Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_017547.4(FOXRED1):c.694C>T (p.Gln232Ter)	SNV Germline	Chr11:126275389	Pathogenic	Mitochondrial complex I deficiency, nuclear type 19 Condition: not provided Leigh syndrome FOXRED1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA113792	rs_267606829	6 SubmittersRCV000000015 RCV000578659 RCV001194045 RCV003390625
NM_018344.6(SLC29A3):c.1279G>A (p.Gly427Ser)	SNV Germline	Chr10:71362459	Pathogenic	H syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA114349	rs_121912583	6 SubmittersRCV000000593 RCV002272004
NM_018344.6(SLC29A3):c.1330G>T (p.Glu444Ter)	SNV Germline	Chr10:71362510	Pathogenic/Likely pathogenic	H syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA114350	rs_267607056	5 SubmittersRCV000000594 RCV000413820
NM_018344.6(SLC29A3):c.1309G>A (p.Gly437Arg)	SNV Germline	Chr10:71362489	Pathogenic	H syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA114352	rs_121912584	6 SubmittersRCV000000595 RCV000414664
NM_018344.6(SLC29A3):c.347T>G (p.Met116Arg)	SNV Germline	Chr10:71344255	Likely pathogenic	H syndrome	Criteria Provided Single Submitter	CA114353	rs_267607057	2 SubmittersRCV000000598
NM_018344.6(SLC29A3):c.1346C>G (p.Thr449Arg)	SNV Germline	Chr10:71362526	Pathogenic	H syndrome SLC29A3-related disorder	Criteria Provided Single Submitter	CA114354	rs_267607058	2 SubmittersRCV000000599 RCV003398400
NM_001378615.1(CC2D2A):c.1762C>T (p.Gln588Ter)	SNV Germline	Chr4:15537074	Pathogenic	Meckel syndrome, type 6 Meckel-Gruber syndrome Joubert syndrome Meckel syndrome, type 6 Retinitis pigmentosa 93 COACH syndrome 2 Joubert syndrome 9 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA2863751	rs_116358011	4 SubmittersRCV000000778 RCV001385996 RCV005024978 RCV005409592
NM_001378615.1(CC2D2A):c.3364C>T (p.Pro1122Ser)	SNV Germline	Chr4:15567752	Conflicting classifications of pathogenicity	Joubert syndrome 9 Condition: not provided COACH syndrome 1 Meckel-Gruber syndrome Joubert syndrome	Criteria Provided Conflicting Classifications	CA114469	rs_118204051	10 SubmittersRCV000000779 RCV000730543 RCV001329602 RCV001851514
NM_001378615.1(CC2D2A):c.4582C>T (p.Arg1528Cys)	SNV Germline	Chr4:15599614	Pathogenic/Likely pathogenic	Joubert syndrome 9 Condition: not provided COACH syndrome 2 Meckel syndrome, type 6 Joubert syndrome Meckel-Gruber syndrome CC2D2A-related disorder Joubert syndrome 9 Meckel syndrome, type 6 Retinitis pigmentosa 93 COACH syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA114471	rs_118204052	9 SubmittersRCV000000780 RCV000445290 RCV001269034 RCV003234885 RCV003764503 RCV004532267 RCV005031374
NM_001378615.1(CC2D2A):c.2848C>T (p.Arg950Ter)	SNV Germline	Chr4:15559183	Pathogenic	Joubert syndrome 9 Condition: not provided Inborn genetic diseases Meckel-Gruber syndrome Joubert syndrome CC2D2A-related disorder Meckel syndrome, type 6 Retinitis pigmentosa 93 COACH syndrome 2 Joubert syndrome 9	Criteria Provided Multiple Submitters No Conflicts	CA114473	rs_118204053	9 SubmittersRCV000000781 RCV000727257 RCV001266487 RCV002512617 RCV004528061 RCV005222657
NM_001378615.1(CC2D2A):c.3145C>T (p.Arg1049Ter)	SNV Germline	Chr4:15563485	Pathogenic	COACH syndrome 2 Meckel-Gruber syndrome Joubert syndrome Joubert syndrome 9/15, digenic Condition: not provided Meckel syndrome, type 6 Retinitis pigmentosa 93 COACH syndrome 2 Joubert syndrome 9 See cases Inborn genetic diseases Meckel syndrome, type 6 COACH syndrome 2 Joubert syndrome 9	Criteria Provided Multiple Submitters No Conflicts	CA129544	rs_386833750	8 SubmittersRCV000000783 RCV000199602 RCV000023922 RCV000578695 RCV002476904 RCV002251848 RCV005305943 RCV004795365
NM_001378615.1(CC2D2A):c.3347C>T (p.Thr1116Met)	SNV Germline	Chr4:15567735	Conflicting classifications of pathogenicity	COACH syndrome 2 Condition: not provided Joubert syndrome 9 Meckel-Gruber syndrome Joubert syndrome Meckel syndrome, type 6 Retinitis pigmentosa 93 COACH syndrome 2 Joubert syndrome 9	Criteria Provided Conflicting Classifications	CA210343	rs_267606709	6 SubmittersRCV000000784 RCV000729670 RCV000201781 RCV001383566 RCV005031375
NM_015141.4(GPD1L):c.370A>G (p.Ile124Val)	SNV Germline	Chr3:32140231	Conflicting classifications of pathogenicity	Brugada syndrome 2 SUDDEN INFANT DEATH SYNDROME Long QT syndrome Primary familial hypertrophic cardiomyopathy not specified Condition: not provided Cardiovascular phenotype Hypertrophic cardiomyopathy Brugada syndrome GPD1L-related disorder	Criteria Provided Conflicting Classifications	CA213881	rs_72552293	18 SubmittersRCV000000824 RCV000029945 RCV000157243 RCV000170920 RCV000203752 RCV000620285 RCV000852958 RCV001081825 RCV003952333
NM_015272.5(RPGRIP1L):c.1843A>C (p.Thr615Pro)	SNV Germline	Chr16:53652844	Pathogenic	Joubert syndrome 7 Joubert syndrome Meckel-Gruber syndrome Condition: not provided Joubert syndrome Joubert syndrome 7 COACH syndrome 3 Meckel syndrome, type 5 RPGRIP1L-related disorder Joubert syndrome and related disorders	Criteria Provided Multiple Submitters No Conflicts	CA251689	rs_121918198	8 SubmittersRCV000001124 RCV000689745 RCV000393725 RCV001271279 RCV002482812 RCV004528062 RCV003155007
NM_015272.5(RPGRIP1L):c.757C>T (p.Gln253Ter)	SNV Germline	Chr16:53686452	Pathogenic	Joubert syndrome 7 Meckel-Gruber syndrome Joubert syndrome Joubert syndrome Joubert syndrome and related disorders Joubert syndrome 7 Meckel syndrome, type 5 COACH syndrome 3	Criteria Provided Multiple Submitters No Conflicts	CA251691	rs_121918199	5 SubmittersRCV000001125 RCV001067857 RCV001831500 RCV003398409 RCV005016221
NM_015272.5(RPGRIP1L):c.2614C>T (p.Gln872Ter)	SNV Germline	Chr16:53645694	Pathogenic/Likely pathogenic	Meckel syndrome, type 5 Condition: not provided Meckel-Gruber syndrome Joubert syndrome COACH syndrome 1 Joubert syndrome 7 Meckel syndrome, type 5 RPGRIP1L-related disorder Joubert syndrome Joubert syndrome 7 Meckel syndrome, type 5 COACH syndrome 3 Meckel-Gruber syndrome	Criteria Provided Multiple Submitters No Conflicts	CA130771	rs_121918203	7 SubmittersRCV000033207 RCV000790748 RCV001059320 RCV000762961 RCV000779628 RCV001831501 RCV005007803 RCV004017218
NM_015272.5(RPGRIP1L):c.2050C>T (p.Gln684Ter)	SNV Germline	Chr16:53652637	Pathogenic/Likely pathogenic	Joubert syndrome 7 Joubert syndrome 7 COACH syndrome 1 Meckel syndrome, type 5 Meckel-Gruber syndrome Joubert syndrome Condition: not provided Joubert syndrome Abnormality of prenatal development or birth COACH syndrome 3 Joubert syndrome 7 Meckel syndrome, type 5	Criteria Provided Multiple Submitters No Conflicts	CA251696	rs_121918204	10 SubmittersRCV000001131 RCV000762962 RCV000824619 RCV001781157 RCV001271277 RCV001813927 RCV005007804
NM_015272.5(RPGRIP1L):c.2413C>T (p.Arg805Ter)	SNV Germline	Chr16:53645895	Pathogenic	COACH syndrome 3 Joubert syndrome 7 Condition: not provided Joubert syndrome Meckel-Gruber syndrome Joubert syndrome Joubert syndrome 7 Meckel syndrome, type 5 COACH syndrome 3	Criteria Provided Multiple Submitters No Conflicts	CA210648	rs_145665129	7 SubmittersRCV000001134 RCV000201645 RCV000733537 RCV001831502 RCV001382825 RCV002490288
NM_015272.5(RPGRIP1L):c.1975T>C (p.Ser659Pro)	SNV Germline	Chr16:53652712	Pathogenic	COACH syndrome 3 Joubert syndrome 7	Criteria Provided Single Submitter	CA210651	rs_267607020	2 SubmittersRCV000001135 RCV000201757
NM_153704.6(TMEM67):c.1538A>G (p.Tyr513Cys)	SNV Germline	Chr8:93791282	Pathogenic/Likely pathogenic	Joubert syndrome 6 COACH syndrome 1 Meckel-Gruber syndrome Joubert syndrome Joubert syndrome and related disorders 6 conditions	Criteria Provided Multiple Submitters No Conflicts	CA210653	rs_137853107	5 SubmittersRCV000001436 RCV000001437 RCV001851544 RCV004585980 RCV005049307
NM_153704.6(TMEM67):c.1961-2A>C	SNV Germline	Chr8:93797329	Pathogenic	COACH syndrome 1 Joubert syndrome 6	Criteria Provided Single Submitter	CA212768	rs_758948621	2 SubmittersRCV000001441 RCV000201576
NM_153704.6(TMEM67):c.958A>T (p.Ser320Cys)	SNV Germline	Chr8:93780962	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 14, modifier of Nephronophthisis Condition: not provided Joubert syndrome 6 RHYNS syndrome Meckel-Gruber syndrome Joubert syndrome Meckel syndrome, type 3 Nephronophthisis 11 COACH syndrome 1 not specified TMEM67-related disorder 6 conditions	Criteria Provided Conflicting Classifications	CA114968	rs_111619594	15 SubmittersRCV000001444 RCV000234830 RCV000725926 RCV001158404 RCV001198570 RCV001085857 RCV001158405 RCV001158406 RCV001333012 RCV003488318 RCV004528064 RCV005394103
NM_153704.6(TMEM67):c.2498T>C (p.Ile833Thr)	SNV Germline	Chr8:93808898	Pathogenic/Likely pathogenic	COACH syndrome 1 Joubert syndrome 6 Meckel syndrome, type 3 Joubert syndrome and related disorders 6 conditions Nephronophthisis 11 COACH syndrome 1 Joubert syndrome 6 RHYNS syndrome Joubert syndrome Meckel-Gruber syndrome Condition: not provided TMEM67-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA210657	rs_267607119	13 SubmittersRCV000001445 RCV000001446 RCV000995902 RCV001804708 RCV001536092 RCV005357054 RCV000821785 RCV001310635 RCV003315221
NM_153704.6(TMEM67):c.2556+1G>T	SNV Germline	Chr8:93808957	Pathogenic	COACH syndrome 1 Joubert syndrome 6	Criteria Provided Single Submitter	CA212769	rs_786200867	2 SubmittersRCV000001447 RCV000201565
NM_153704.6(TMEM67):c.312+5G>A	SNV Germline	Chr8:93755871	Pathogenic	COACH syndrome 1 Meckel-Gruber syndrome Joubert syndrome 6 conditions	Criteria Provided Multiple Submitters No Conflicts	CA212770	rs_786200868	3 SubmittersRCV000001448 RCV001388801 RCV002496229
NM_153704.6(TMEM67):c.1769T>C (p.Phe590Ser)	SNV Germline	Chr8:93795503	Pathogenic/Likely pathogenic	COACH syndrome 1 Joubert syndrome 6 Condition: not provided Meckel-Gruber syndrome Joubert syndrome 6 conditions	Criteria Provided Multiple Submitters No Conflicts	CA210661	rs_267607115	8 SubmittersRCV000001449 RCV000201677 RCV001781164 RCV001851546 RCV005049308
NM_153704.6(TMEM67):c.1843T>C (p.Cys615Arg)	SNV Germline	Chr8:93795970	Pathogenic/Likely pathogenic	Joubert syndrome 6 Nephronophthisis 11 Nephronophthisis TMEM67-related disorder Meckel-Gruber syndrome Joubert syndrome Oligohydramnios Joubert syndrome Renal cyst Condition: not provided Inborn genetic diseases 14 conditions Joubert syndrome 6 COACH syndrome 1 Bardet-Biedl syndrome 14 Nephronophthisis 11 Meckel syndrome, type 3 RHYNS syndrome 6 conditions Joubert syndrome 6 COACH syndrome 1 RHYNS syndrome Nephronophthisis 11	Criteria Provided Multiple Submitters No Conflicts	CA114977	rs_201893408	17 SubmittersRCV000001452 RCV000001451 RCV000234823 RCV000283682 RCV000534533 RCV000415055 RCV000479077 RCV000623857 RCV000627004 RCV000763610 RCV001197497 RCV005041963 RCV005357055
NM_174889.5(NDUFAF2):c.139C>T (p.Arg47Ter)	SNV Germline	Chr5:61073136	Pathogenic/Likely pathogenic	Mitochondrial complex I deficiency, nuclear type 10 Mitochondrial complex I deficiency, nuclear type 1 Inborn genetic diseases Leigh syndrome not specified Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA115096	rs_137852863	7 SubmittersRCV000001661 RCV000779476 RCV000624428 RCV000679870 RCV000781647 RCV001582459
NM_000251.3(MSH2):c.1865C>T (p.Pro622Leu)	SNV Germline	Chr2:47475130	Pathogenic	Lynch syndrome 1 Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Condition: not provided	Reviewed By Expert Panel	CA019478	rs_28929483	6 SubmittersRCV000001823 RCV000076307 RCV000566777 RCV000630204 RCV002460877
NM_000251.3(MSH2):c.1216C>T (p.Arg406Ter)	SNV Germline	Chr2:47429881	Pathogenic	Lynch syndrome 1 Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Condition: not provided Carcinoma of colon Lynch syndrome 1 Muir-Torré syndrome Mismatch repair cancer syndrome 1 Gastric cancer	Reviewed By Expert Panel	CA017519	rs_63751108	26 SubmittersRCV000001825 RCV000030238 RCV000524334 RCV000162489 RCV000202291 RCV000677885 RCV000763491 RCV003162204
NM_000251.3(MSH2):c.1915C>T (p.His639Tyr)	SNV Germline	Chr2:47475180	Pathogenic	Lynch syndrome 1 Lynch syndrome Condition: not provided Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary nonpolyposis colon cancer	Reviewed By Expert Panel	CA019553	rs_28929484	9 SubmittersRCV000001826 RCV000030246 RCV000202104 RCV000491611 RCV001204094 RCV003987305
NM_000251.3(MSH2):c.1801C>T (p.Gln601Ter)	SNV Germline	Chr2:47475066	Pathogenic	Muir-Torré syndrome Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Condition: not provided Lynch syndrome 1	Reviewed By Expert Panel	CA019344	rs_63750047	10 SubmittersRCV000001828 RCV000076290 RCV000491732 RCV000809096 RCV000428558 RCV003450612
NM_000251.3(MSH2):c.1571G>C (p.Arg524Pro)	SNV Germline	Chr2:47466718	Likely pathogenic	Lynch syndrome 1 Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Condition: not provided Hereditary nonpolyposis colon cancer	Reviewed By Expert Panel	CA018643	rs_63751207	11 SubmittersRCV000001829 RCV000076197 RCV000165648 RCV000531855 RCV000256140 RCV001251063
NM_000251.3(MSH2):c.1906G>C (p.Ala636Pro)	SNV Germline	Chr2:47475171	Pathogenic	Lynch syndrome Lynch syndrome 1 Hereditary cancer-predisposing syndrome Condition: not provided Mismatch repair cancer syndrome 1 Muir-Torré syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms Carcinoma of colon	Reviewed By Expert Panel	CA019533	rs_63750875	22 SubmittersRCV000030245 RCV000376757 RCV000130428 RCV000202220 RCV000763493 RCV000524366 RCV001353396
NM_024426.6(WT1):c.1399C>T (p.Arg467Trp)	SNV Germline	Chr11:32392020	Pathogenic/Likely pathogenic	Drash syndrome Meacham syndrome Nephrotic syndrome, type 4 Wilms tumor 1 Drash syndrome 11p partial monosomy syndrome Frasier syndrome Condition: not provided Steroid-resistant nephrotic syndrome Nephrotic range proteinuria Kidney disorder Wilms tumor 1 WT1-related disorder 6 conditions	Criteria Provided Multiple Submitters No Conflicts	CA016324	rs_121907900	15 SubmittersRCV000003656 RCV000003657 RCV000003658 RCV000467701 RCV000484426 RCV001003819 RCV002293973 RCV001290016 RCV004739285 RCV005003322
NM_024426.6(WT1):c.1316G>A (p.Arg439His)	SNV Germline	Chr11:32392704	Pathogenic	Drash syndrome Condition: not provided Wilms tumor 1 Drash syndrome Frasier syndrome Nephrotic syndrome, type 4 Wilms tumor 1 Drash syndrome 11p partial monosomy syndrome Frasier syndrome Nephrotic syndrome, type 4 Wilms tumor 1 8 conditions	Criteria Provided Multiple Submitters No Conflicts	CA016285	rs_121907901	9 SubmittersRCV000003659 RCV000484493 RCV001250546 RCV001851622 RCV002243617 RCV003147274 RCV002496247
NM_024426.6(WT1):c.1406A>G (p.Asp469Gly)	SNV Germline	Chr11:32392013	Likely pathogenic	Drash syndrome Wilms tumor 1 Drash syndrome 11p partial monosomy syndrome Frasier syndrome	Criteria Provided Single Submitter	CA016344	rs_121907902	2 SubmittersRCV000003660 RCV001376854
NM_024426.6(WT1):c.1405G>A (p.Asp469Asn)	SNV Germline	Chr11:32392014	Pathogenic	Drash syndrome Nephrotic syndrome, type 4 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA016338	rs_28941778	3 SubmittersRCV000003661 RCV000003662 RCV003322746
NM_024426.6(WT1):c.1400G>C (p.Arg467Pro)	SNV Germline	Chr11:32392019	Pathogenic	Drash syndrome WT1-related disorder	Criteria Provided Single Submitter	CA016330	rs_121907903	2 SubmittersRCV000003663 RCV004547456
NM_024426.6(WT1):c.1208G>A (p.Cys403Tyr)	SNV Germline	Chr11:32396313	Pathogenic	Drash syndrome	No Assertion Criteria Provided	CA016258	rs_121907904	1 SubmittersRCV000003664
NM_024426.6(WT1):c.1447+5G>A	SNV Germline	Chr11:32391967	Pathogenic	Drash syndrome Frasier syndrome Familial idiopathic steroid-resistant nephrotic syndrome Nephrotic syndrome, type 4 Drash syndrome Wilms tumor 1 11p partial monosomy syndrome Frasier syndrome Wilms tumor 1 Condition: not provided WT1-related disorder 6 conditions Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA016607	rs_587776576	21 SubmittersRCV000003665 RCV000030876 RCV000208283 RCV000589623 RCV000705142 RCV001290018 RCV001288155 RCV004547457 RCV005003323 RCV005520217
NM_024426.6(WT1):c.1387C>T (p.Arg463Ter)	SNV Germline	Chr11:32392032	Pathogenic	Wilms tumor 1 Frasier syndrome Wilms tumor 1 Drash syndrome 11p partial monosomy syndrome Frasier syndrome Condition: not provided Focal segmental glomerulosclerosis 6 conditions	Criteria Provided Multiple Submitters No Conflicts	CA016309	rs_121907909	7 SubmittersRCV000003666 RCV000030877 RCV000471023 RCV000521800 RCV002293974 RCV005003324
NM_024426.6(WT1):c.1348C>T (p.His450Tyr)	SNV Germline	Chr11:32392672	Pathogenic/Likely pathogenic	Nephrotic syndrome, type 4 Drash syndrome Wilms tumor 1 Drash syndrome 11p partial monosomy syndrome Frasier syndrome	Criteria Provided Multiple Submitters No Conflicts	CA016298	rs_28942089	3 SubmittersRCV000003668 RCV000003667 RCV002512715
NM_024426.6(WT1):c.1297T>G (p.Cys433Gly)	SNV Germline	Chr11:32392723	Likely pathogenic	Drash syndrome Wilms tumor 1 Drash syndrome 11p partial monosomy syndrome Frasier syndrome	Criteria Provided Single Submitter	CA016265	rs_121907905	2 SubmittersRCV000003669 RCV002512716
NM_024426.6(WT1):c.1303C>T (p.Arg435Ter)	SNV Germline	Chr11:32392717	Pathogenic	Drash syndrome Wilms tumor 1 Wilms tumor 1 Drash syndrome 11p partial monosomy syndrome Frasier syndrome 8 conditions Condition: not provided 6 conditions	Criteria Provided Multiple Submitters No Conflicts	CA016273	rs_121907906	8 SubmittersRCV000003670 RCV000003671 RCV000685465 RCV000762840 RCV001565696 RCV004795369
NM_024426.6(WT1):c.1338C>G (p.His446Gln)	SNV Germline	Chr11:32392682	Pathogenic	Drash syndrome Wilms tumor 1 Drash syndrome 11p partial monosomy syndrome Frasier syndrome	Criteria Provided Single Submitter	CA016292	rs_121907907	2 SubmittersRCV000003672 RCV005222665
NM_024426.6(WT1):c.1447+4C>T	SNV Germline	Chr11:32391968	Pathogenic/Likely pathogenic	Frasier syndrome Nephrotic syndrome, type 4 Familial idiopathic steroid-resistant nephrotic syndrome Condition: not provided Drash syndrome Wilms tumor 1 11p partial monosomy syndrome Frasier syndrome Wilms tumor 1 WT1-related disorder 6 conditions Nephrotic range proteinuria	Criteria Provided Multiple Submitters No Conflicts	CA016600	rs_587776577	17 SubmittersRCV000003674 RCV000003675 RCV000157584 RCV000489749 RCV001216104 RCV001290017 RCV004547458 RCV005049315 RCV001003818
NM_024426.6(WT1):c.1315C>T (p.Arg439Cys)	SNV Germline	Chr11:32392705	Pathogenic	Meacham syndrome Condition: not provided Wilms tumor 1 Drash syndrome 11p partial monosomy syndrome Frasier syndrome Nephrotic syndrome, type 4	Criteria Provided Multiple Submitters No Conflicts	CA016279	rs_121907910	5 SubmittersRCV000003680 RCV001288153 RCV005222666 RCV005252662
NM_001079866.2(BCS1L):c.166C>T (p.Arg56Ter)	SNV Germline	Chr2:218661153	Pathogenic	Mitochondrial complex III deficiency nuclear type 1 Condition: not provided BCS1L-related disorder GRACILE syndrome Mitochondrial complex III deficiency nuclear type 1 Pili torti-deafness syndrome Leigh syndrome GRACILE syndrome Pili torti-deafness syndrome Mitochondrial complex III deficiency nuclear type 1 Pili torti-deafness syndrome GRACILE syndrome	Criteria Provided Multiple Submitters No Conflicts	CA118015	rs_121908576	19 SubmittersRCV000006544 RCV000195481 RCV000260660 RCV000576565 RCV000763069 RCV003472989 RCV005016249
NM_001079866.2(BCS1L):c.548G>A (p.Arg183His)	SNV Germline	Chr2:218661846	Pathogenic	Pili torti-deafness syndrome GRACILE syndrome Mitochondrial complex III deficiency nuclear type 1 Mitochondrial complex III deficiency nuclear type 1 GRACILE syndrome Pili torti-deafness syndrome Condition: not provided Leigh syndrome	Criteria Provided Multiple Submitters No Conflicts	CA118021	rs_121908577	7 SubmittersRCV000006545 RCV001835622 RCV002243624 RCV002476937 RCV002512833 RCV000779835
NM_002495.4(NDUFS4):c.316C>T (p.Arg106Ter)	SNV Germline	Chr5:53646371	Pathogenic	Mitochondrial complex I deficiency, nuclear type 1 Mitochondrial complex I deficiency Leigh syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA118548	rs_104893898	8 SubmittersRCV000735424 RCV000578296 RCV002307359 RCV002298437
NM_006941.4(SOX10):c.939C>G (p.Tyr313Ter)	SNV Germline	Chr22:37973957	Pathogenic	PCWH syndrome	No Assertion Criteria Provided	CA118759	rs_74315516	1 SubmittersRCV000007822
NM_006941.4(SOX10):c.752C>A (p.Ser251Ter)	SNV Germline	Chr22:37974144	Pathogenic	PCWH syndrome Condition: not provided	Criteria Provided Single Submitter	CA118762	rs_74315518	2 SubmittersRCV000007823 RCV005089203
NM_006941.4(SOX10):c.748C>T (p.Gln250Ter)	SNV Germline	Chr22:37974148	Pathogenic	PCWH syndrome	No Assertion Criteria Provided	CA118772	rs_74315521	1 SubmittersRCV000007828
NM_002496.4(NDUFS8):c.236C>T (p.Pro79Leu)	SNV Germline	Chr11:68033147	Likely pathogenic	Mitochondrial complex I deficiency, nuclear type 2 Condition: not provided Leigh syndrome	Criteria Provided Multiple Submitters No Conflicts	CA118853	rs_28939679	3 SubmittersRCV000007941 RCV000442702 RCV000762861
NM_024407.5(NDUFS7):c.364G>A (p.Val122Met)	SNV Germline	Chr19:1391006	Pathogenic/Likely pathogenic	Mitochondrial complex I deficiency, nuclear type 3 Condition: not provided Leigh syndrome	Criteria Provided Multiple Submitters No Conflicts	CA118993	rs_104894705	12 SubmittersRCV000008120 RCV000197296 RCV003155020
NM_024407.5(NDUFS7):c.17-1167C>G	SNV Germline	Chr19:1386644	Likely pathogenic	Mitochondrial complex I deficiency, nuclear type 3 Leigh syndrome	Criteria Provided Single Submitter	CA891844320	rs_1568985256	2 SubmittersRCV000008122 RCV002265550
NM_004168.4(SDHA):c.1660C>T (p.Arg554Trp)	SNV Germline	Chr5:251100	Likely pathogenic	Mitochondrial complex II deficiency, nuclear type 1 Hereditary cancer-predisposing syndrome Mitochondrial complex II deficiency, nuclear type 1 Pheochromocytoma/paraganglioma syndrome 5 Leigh syndrome Mitochondrial complex II deficiency, nuclear type 1 Neurodegeneration with ataxia and late-onset optic atrophy Pheochromocytoma/paraganglioma syndrome 5 Dilated cardiomyopathy 1GG Condition: not provided Dilated cardiomyopathy 1GG Diffuse midline glioma, H3 K27-altered SDHA-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA119879	rs_9809219	11 SubmittersRCV000009281 RCV000573113 RCV000456631 RCV000790927 RCV005031432 RCV001818148 RCV003473060 RCV003315222 RCV005417425
NM_000535.7(PMS2):c.400C>T (p.Arg134Ter)	SNV Germline	Chr7:6002590	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Mismatch repair cancer syndrome 4 Condition: not provided Hereditary nonpolyposis colorectal neoplasms Mismatch repair cancer syndrome 1 Lynch syndrome 4 Lynch syndrome 1 Gastric cancer Lynch syndrome 4 Mismatch repair cancer syndrome 4	Reviewed By Expert Panel	CA012083	rs_63750871	21 SubmittersRCV000076872 RCV000115695 RCV000009815 RCV000212842 RCV000524474 RCV001196700 RCV000576870 RCV001310204 RCV003162222 RCV005042023
NM_000535.7(PMS2):c.2404C>T (p.Arg802Ter)	SNV Germline	Chr7:5977629	Pathogenic	Hereditary cancer-predisposing syndrome Lynch syndrome 4 Mismatch repair cancer syndrome 1 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome Condition: not provided Mismatch repair cancer syndrome 4 Rhabdomyosarcoma Hereditary nonpolyposis colon cancer Lynch syndrome 4 Mismatch repair cancer syndrome 4 PMS2-related disorder Inherited MMR deficiency (Lynch syndrome)	Reviewed By Expert Panel	CA011441	rs_63751466	23 SubmittersRCV000129304 RCV000409056 RCV000009818 RCV000524467 RCV000076858 RCV000413126 RCV001267876 RCV001257544 RCV002265552 RCV005031433 RCV003415681 RCV004691719
NM_000535.7(PMS2):c.1882C>T (p.Arg628Ter)	SNV Germline	Chr7:5986883	Pathogenic	Lynch syndrome 4 Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Condition: not provided Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colon cancer	Reviewed By Expert Panel	CA010399	rs_63750451	18 SubmittersRCV000009823 RCV000076834 RCV000524451 RCV000220439 RCV000218575 RCV001193819
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile)	SNV Germline	Chr7:6005918	Likely pathogenic	Mismatch repair cancer syndrome 1 Lynch syndrome Lynch syndrome 4 Hereditary cancer-predisposing syndrome Condition: not provided Pituitary carcinoma Hereditary nonpolyposis colorectal neoplasms Endometrial carcinoma Mismatch repair cancer syndrome 4 Lynch syndrome 1 Breast and/or ovarian cancer Lynch syndrome 4 Mismatch repair cancer syndrome 4 PMS2-related disorder PMS2-related cancer disorders Inherited MMR deficiency (Lynch syndrome) Dilated cardiomyopathy 1G Hypertrophic cardiomyopathy 9	Reviewed By Expert Panel	CA009597	rs_121434629	48 SubmittersRCV000009826 RCV000076807 RCV000056324 RCV000115657 RCV000200994 RCV000722017 RCV000524432 RCV001353458 RCV001267878 RCV001804723 RCV001797999 RCV002476951 RCV003390667 RCV003335023 RCV004691720 RCV004555831
NM_000335.5(SCN5A):c.3305C>A (p.Ser1102Tyr)	SNV Germline	Chr3:38579416	Conflicting classifications of pathogenicity	Long QT syndrome 3, acquired, susceptibility to SUDDEN INFANT DEATH SYNDROME Condition: not provided not specified Brugada syndrome Progressive familial heart block, type 1A Ventricular fibrillation, paroxysmal familial, type 1 Sick sinus syndrome 1 Dilated cardiomyopathy 1E Congenital long QT syndrome Cardiovascular phenotype Long QT syndrome 3 Brugada syndrome 1 Primary dilated cardiomyopathy Cardiomyopathy Cardiac arrhythmia 8 conditions	Criteria Provided Conflicting Classifications	CA017028	rs_7626962	23 SubmittersRCV000009992 RCV000009993 RCV000058563 RCV000041615 RCV000204216 RCV000304064 RCV000368908 RCV000396768 RCV000274325 RCV000363449 RCV000621429 RCV000755696 RCV001094834 RCV003125829 RCV003149567 RCV001841239 RCV002504776
NC_012920.1(MT-TV):m.1624C>T	SNV Germline	ChrMT:1624	Likely pathogenic	Leigh syndrome MELAS syndrome Leigh syndrome, mitochondrial Mitochondrial disease	Reviewed By Expert Panel	CA120537	rs_199476144	5 SubmittersRCV000010158 RCV000850667 RCV004554592 RCV005415393
NC_012920.1(MT-TK):m.8344A>G	SNV Germline	ChrMT:8344	Pathogenic	Leigh syndrome MERRF syndrome Parkinson disease, mitochondrial Condition: not provided Mitochondrial disease MELAS syndrome MT-TK-related mitochondrial disorder MT-TK-related disorder Complex hereditary spastic paraplegia	Reviewed By Expert Panel	CA254836	rs_118192098	14 SubmittersRCV000010193 RCV000010192 RCV000010194 RCV000224965 RCV000495310 RCV000850950 RCV001729345 RCV003492290 RCV004766996
NC_012920.1(MT-TK):m.8363G>A	SNV Germline	ChrMT:8363	Likely pathogenic	Cardiomyopathy and Deafness Leigh syndrome MERRF syndrome MELAS syndrome Mitochondrial disease	Reviewed By Expert Panel	CA120555	rs_118192100	5 SubmittersRCV000010197 RCV000144004 RCV000192053 RCV000850961 RCV003162232
NC_012920.1(MT-TL1):m.3243A>G	SNV Germline/somatic	ChrMT:3243	Pathogenic/Likely pathogenic	MELAS syndrome Cyclical vomiting syndrome Age related macular degeneration 2 Mitochondrial complex IV deficiency, nuclear type 1 3-methylglutaconic aciduria type 1 MERRF/MELAS overlap syndrome Diabetes-deafness syndrome maternally transmitted Leigh syndrome Condition: not provided Mitochondrial disease Short stature Stroke disorder Sensorineural hearing loss disorder Glucose intolerance MELAS syndrome MERRF syndrome Cerebral palsy not specified See cases Charcot-Marie-Tooth disease, axonal, mitochondrial form, 1 Maternally-inherited mitochondrial myopathy MELAS syndrome Leigh Syndrome (mtDNA mutation) Hypertrophic cardiomyopathy Diabetes-deafness syndrome maternally transmitted Auditory neuropathy spectrum disorder Leigh syndrome, mitochondrial	Criteria Provided Multiple Submitters No Conflicts	CA120560	rs_199474657	34 SubmittersRCV000010206 RCV000010210 RCV000010209 RCV000010211 RCV000022901 RCV000022902 RCV000032997 RCV000143997 RCV000224855 RCV000495738 RCV000626561 RCV000763623 RCV001794441 RCV002285005 RCV002287327 RCV002250458 RCV004766997 RCV003325938 RCV003984803 RCV004554593
NC_012920.1(MT-ATP6):m.8993T>C	SNV Germline	ChrMT:8993	Pathogenic	Ataxia and polyneuropathy, adult-onset Leigh syndrome Mitochondrial disease NARP syndrome Condition: not provided Mitochondrial complex 5 (ATP synthase) deficiency, mitochondrial type 1 Leber optic atrophy	Reviewed By Expert Panel	CA120596	rs_199476133	11 SubmittersRCV000010276 RCV000010275 RCV000495030 RCV000854390 RCV001268873 RCV000754647 RCV002247300
NC_012920.1(MT-ATP6):m.9176T>C	SNV Germline	ChrMT:9176	Pathogenic	Striatonigral degeneration, infantile, mitochondrial Leigh syndrome Mitochondrial complex 5 (ATP synthase) deficiency, mitochondrial type 1 Condition: not provided Leber optic atrophy Leigh syndrome, mitochondrial Maternally-inherited spastic paraplegia Mitochondrial disease NARP syndrome	Reviewed By Expert Panel	CA120597	rs_199476135	14 SubmittersRCV000010278 RCV000010279 RCV000754652 RCV001027501 RCV001542707 RCV004554599 RCV002251425 RCV002260585 RCV004766998
NC_012920.1(MT-ATP6):m.9185T>C	SNV Germline	ChrMT:9185	Pathogenic	Leigh syndrome Charcot-Marie-Tooth disease Mitochondrial complex 5 (ATP synthase) deficiency, mitochondrial type 1 Condition: not provided Mitochondrial disease Leber optic atrophy Mitochondrial DNA-Associated Leigh Syndrome and NARP NARP syndrome Charcot-Marie-Tooth disease, type IA	Reviewed By Expert Panel	CA340928	rs_199476138	16 SubmittersRCV000010282 RCV000240612 RCV000754648 RCV001267926 RCV000495689 RCV001542709 RCV002267606 RCV004760325 RCV003224857
NC_012920.1(MT-ATP6):m.9176T>G	SNV Germline	ChrMT:9176	Likely pathogenic	Leigh syndrome Mitochondrial complex 5 (ATP synthase) deficiency, mitochondrial type 1 Condition: not provided Leber optic atrophy Mitochondrial disease	Reviewed By Expert Panel	CA340929	rs_199476135	6 SubmittersRCV000010285 RCV000754649 RCV001543462 RCV001542708 RCV002221473
NC_012920.1(MT-CO1):m.6480G>A	SNV Germline	ChrMT:6480	Conflicting classifications of pathogenicity	Mitochondrial complex IV deficiency, nuclear type 1 Leigh syndrome Mitochondrial disease	Criteria Provided Conflicting Classifications	CA120611	rs_199476128	3 SubmittersRCV000010304 RCV000853974 RCV003985072
NC_012920.1(MT-CYB):m.15242G>A	SNV Germline	ChrMT:15242	Likely pathogenic	Mitochondrial encephalomyopathy Leigh syndrome Mitochondrial disease	Reviewed By Expert Panel	CA120618	rs_207459999	3 SubmittersRCV000010318 RCV000855252 RCV004691092
NC_012920.1(MT-ND6):m.14484T>C	SNV Germline	ChrMT:14484	Pathogenic	Leber optic atrophy Leigh syndrome Condition: not provided Mitochondrial disease Retinal dystrophy Optic atrophy	Reviewed By Expert Panel	CA340932	rs_199476104	14 SubmittersRCV000010325 RCV000144018 RCV000223709 RCV003162238 RCV004814873 RCV004814874
NC_012920.1(MT-ND6):m.14453G>A	SNV Germline	ChrMT:14453	Likely pathogenic	MELAS syndrome Leigh syndrome Mitochondrial disease	Reviewed By Expert Panel	CA254853	rs_199476107	4 SubmittersRCV000010331 RCV000855109 RCV002260589
NC_012920.1(MT-ND6):m.14487T>C	SNV Germline	ChrMT:14487	Pathogenic	Striatal necrosis, bilateral, with dystonia Leigh syndrome Leigh syndrome due to mitochondrial complex I deficiency Mitochondrial disease MELAS syndrome Leber optic atrophy	Reviewed By Expert Panel	CA120627	rs_199476109	6 SubmittersRCV000010334 RCV000144020 RCV000010333 RCV003162239 RCV005252673 RCV002247307
NC_012920.1(MT-ND5):m.12706T>C (p.Phe124Leu)	SNV Germline	ChrMT:12706	Likely pathogenic	Leigh syndrome due to mitochondrial complex I deficiency Leigh syndrome Leber optic atrophy Mitochondrial disease	Reviewed By Expert Panel	CA120628	rs_267606893	5 SubmittersRCV000010338 RCV000144015 RCV002247308 RCV002260591
NC_012920.1(MT-ND5):m.13513G>A	SNV Germline	ChrMT:13513	Pathogenic	MELAS syndrome Leigh syndrome due to mitochondrial complex I deficiency Leigh syndrome Condition: not provided Mitochondrial disease	Reviewed By Expert Panel	CA120632	rs_267606897	11 SubmittersRCV000010345 RCV000010346 RCV000144016 RCV000224472 RCV000494941
NC_012920.1(MT-ND5):m.13042G>A	SNV Germline	ChrMT:13042	Likely pathogenic	MELAS syndrome MERRF syndrome Leigh syndrome due to mitochondrial complex I deficiency Leber optic atrophy Mitochondrial disease	Reviewed By Expert Panel	CA120633	rs_267606898	5 SubmittersRCV000010347 RCV000010348 RCV000010349 RCV000854885 RCV002260592
NC_012920.1(MT-ND4):m.11777C>A	SNV Germline	ChrMT:11777	Likely pathogenic	Mitochondrial complex I deficiency Leber optic atrophy Leigh syndrome Mitochondrial disease Leber optic atrophy and dystonia	Reviewed By Expert Panel	CA120636	rs_28384199	5 SubmittersRCV000010357 RCV000854746 RCV000144013 RCV002260594 RCV005252675
NC_012920.1(MT-ND3):m.10191T>C	SNV Germline	ChrMT:10191	Pathogenic	Mitochondrial complex I deficiency, mitochondrial type 1 Leigh syndrome Mitochondrial disease Mitochondrial complex I deficiency	Reviewed By Expert Panel	CA120637	rs_267606890	5 SubmittersRCV000010358 RCV000144010 RCV002291212 RCV001542636
NC_012920.1(MT-ND3):m.10158T>C	SNV Germline	ChrMT:10158	Pathogenic	Mitochondrial complex I deficiency, mitochondrial type 1 Condition: not provided Leigh syndrome Mitochondrial disease	Reviewed By Expert Panel	CA120639	rs_199476117	6 SubmittersRCV000010360 RCV000224598 RCV000144009 RCV001796716
NC_012920.1(MT-ND3):m.10197G>A	SNV Germline	ChrMT:10197	Pathogenic	Leber optic atrophy and dystonia Mitochondrial complex I deficiency, mitochondrial type 1 Mitochondrial DNA-Associated Leigh Syndrome and NARP Leigh syndrome not specified Mitochondrial disease Condition: not provided See cases Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy	Reviewed By Expert Panel	CA120640	rs_267606891	11 SubmittersRCV000010363 RCV000010362 RCV002247309 RCV000144011 RCV002285008 RCV002291213 RCV000507278 RCV004017234 RCV004767000
NC_012920.1(MT-ND1):m.3460G>A	SNV Germline	ChrMT:3460	Pathogenic	Leber optic atrophy Leigh syndrome Condition: not provided MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 3 Optic atrophy Mitochondrial disease MELAS syndrome	Reviewed By Expert Panel	CA120646	rs_199476118	11 SubmittersRCV000010370 RCV000143998 RCV000757484 RCV000735416 RCV004814877 RCV003319165 RCV005252676
NM_000377.3(WAS):c.257G>T (p.Arg86Leu)	SNV Germline	ChrX:48684407	Pathogenic	Wiskott-Aldrich syndrome	No Assertion Criteria Provided	CA341001	rs_132630268	1 SubmittersRCV000011863
NM_000377.3(WAS):c.257G>A (p.Arg86His)	SNV Germline	ChrX:48684407	Pathogenic	Wiskott-Aldrich syndrome Condition: not provided Wiskott-Aldrich syndrome X-linked severe congenital neutropenia Thrombocytopenia 1	Criteria Provided Multiple Submitters No Conflicts	CA341003	rs_132630268	8 SubmittersRCV000011864 RCV000414284 RCV000633305
NM_000377.3(WAS):c.167C>T (p.Ala56Val)	SNV Germline	ChrX:48684317	Pathogenic	Thrombocytopenia 1 Condition: not provided Wiskott-Aldrich syndrome X-linked severe congenital neutropenia Thrombocytopenia 1 Wiskott-Aldrich syndrome	Criteria Provided Multiple Submitters No Conflicts	CA255723	rs_132630269	5 SubmittersRCV000011865 RCV001563489 RCV003764557 RCV002243636
NM_000377.3(WAS):c.100C>T (p.Arg34Ter)	SNV Germline	ChrX:48683953	Pathogenic	Wiskott-Aldrich syndrome Wiskott-Aldrich syndrome X-linked severe congenital neutropenia Thrombocytopenia 1	Criteria Provided Single Submitter	CA341005	rs_132630271	2 SubmittersRCV000011868 RCV003764558
NM_000377.3(WAS):c.1A>T (p.Met1Leu)	SNV Somatic	ChrX:48683854	Pathogenic	Wiskott-Aldrich syndrome	No Assertion Criteria Provided	CA341008	rs_587776742	1 SubmittersRCV000011869
NM_000377.3(WAS):c.244T>C (p.Ser82Pro)	SNV Germline	ChrX:48684394	Likely pathogenic	WISKOTT-ALDRICH SYNDROME, ATTENUATED Condition: not provided	Criteria Provided Single Submitter	CA121359	rs_132630272	2 SubmittersRCV000011871 RCV001509116
NM_000377.3(WAS):c.134C>T (p.Thr45Met)	SNV Germline	ChrX:48684284	Pathogenic	Thrombocytopenia 1 Thrombocytopenia Thrombocytopenia 1 Wiskott-Aldrich syndrome X-linked severe congenital neutropenia Condition: not provided Wiskott-Aldrich syndrome WAS-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA255728	rs_132630273	10 SubmittersRCV000011872 RCV000851684 RCV001037597 RCV001172206 RCV004760326 RCV004748516
NM_000377.3(WAS):c.809T>C (p.Leu270Pro)	SNV Germline	ChrX:48688331	Pathogenic/Likely pathogenic	X-linked severe congenital neutropenia Condition: not provided Wiskott-Aldrich syndrome X-linked severe congenital neutropenia Thrombocytopenia 1	Criteria Provided Multiple Submitters No Conflicts	CA280988	rs_132630274	3 SubmittersRCV000011874 RCV001291553 RCV001851800
NM_000377.3(WAS):c.560-1G>A	SNV Germline	ChrX:48686780	Pathogenic	Wiskott-Aldrich syndrome	No Assertion Criteria Provided	CA412869779	rs_1602178087	1 SubmittersRCV000011880
NM_000377.3(WAS):c.559+2T>G	SNV Germline	ChrX:48686136	Pathogenic	Wiskott-Aldrich syndrome	No Assertion Criteria Provided	CA412869598	rs_1602177733	1 SubmittersRCV000011881
NM_000363.5(TNNI3):c.575G>A (p.Arg192His)	SNV Germline	Chr19:55151892	Pathogenic	Cardiomyopathy, familial restrictive, 1 Restrictive cardiomyopathy Hypertrophic cardiomyopathy Primary familial hypertrophic cardiomyopathy Condition: not provided Hypertrophic cardiomyopathy Restrictive cardiomyopathy Cardiovascular phenotype SUDDEN INFANT DEATH SYNDROME Dilated cardiomyopathy 2A	Criteria Provided Multiple Submitters No Conflicts	CA021957	rs_104894729	11 SubmittersRCV000013237 RCV000154212 RCV000157534 RCV000159242 RCV000629012 RCV000852483 RCV000619328 RCV003147282 RCV003388566
NM_000363.5(TNNI3):c.433C>T (p.Arg145Trp)	SNV Germline	Chr19:55154146	Pathogenic	Cardiomyopathy, familial restrictive, 1 Condition: not provided Cardiomyopathy Hypertrophic cardiomyopathy Restrictive cardiomyopathy Hypertrophic cardiomyopathy SUDDEN INFANT DEATH SYNDROME Hypertrophic cardiomyopathy 7 Dilated cardiomyopathy 2A Cardiomyopathy, familial restrictive, 1 Dilated cardiomyopathy 1FF TNNI3-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA021667	rs_104894724	19 SubmittersRCV000013239 RCV000159222 RCV001170617 RCV000498333 RCV001254730 RCV001787387 RCV004795401 RCV004549357
NM_003172.4(SURF1):c.751C>T (p.Gln251Ter)	SNV Germline	Chr9:133352446	Pathogenic	Mitochondrial complex IV deficiency, nuclear type 1 Leigh syndrome Condition: not provided Mitochondrial disease Charcot-Marie-Tooth disease type 4K Mitochondrial complex IV deficiency, nuclear type 1	Criteria Provided Multiple Submitters No Conflicts	CA122692	rs_121918657	6 SubmittersRCV000013599 RCV000589222 RCV000599426 RCV003314553 RCV005042037
NM_003172.4(SURF1):c.371G>A (p.Gly124Glu)	SNV Germline	Chr9:133353893	Pathogenic	Mitochondrial complex IV deficiency, nuclear type 1 Leigh syndrome	Criteria Provided Single Submitter	CA122697	rs_28933402	2 SubmittersRCV000013606 RCV001851829
NM_000540.3(RYR1):c.1840C>T (p.Arg614Cys)	SNV Germline	Chr19:38457545	Pathogenic; drug response	Condition: not provided Malignant hyperthermia of anesthesia RYR1-related disorder Inborn genetic diseases desflurane response - Toxicity Malignant hyperthermia, susceptibility to, 1 enflurane response - Toxicity succinylcholine response - Toxicity Malignant hyperthermia, susceptibility to, 1 Central core myopathy Congenital myopathy with fiber type disproportion King Denborough syndrome Congenital multicore myopathy with external ophthalmoplegia halothane response - Toxicity isoflurane response - Toxicity methoxyflurane response - Toxicity sevoflurane response - Toxicity	Reviewed By Expert Panel	CA024311	rs_118192172	30 SubmittersRCV000119586 RCV000608635 RCV000538121 RCV000624176 RCV001787388 RCV000013830 RCV001787389 RCV001787394 RCV002496349 RCV001787390 RCV001787391 RCV001787392 RCV001787393
NM_000540.3(RYR1):c.7300G>A (p.Gly2434Arg)	SNV Germline	Chr19:38499993	Pathogenic; drug response	Malignant hyperthermia, susceptibility to, 1 Condition: not provided RYR1-related disorder Malignant hyperthermia of anesthesia desflurane response - Toxicity enflurane response - Toxicity halothane response - Toxicity methoxyflurane response - Toxicity succinylcholine response - Toxicity isoflurane response - Toxicity sevoflurane response - Toxicity Central core myopathy Inborn genetic diseases King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Central core myopathy	Reviewed By Expert Panel	CA024747	rs_121918593	32 SubmittersRCV000013837 RCV000119698 RCV000551243 RCV000612258 RCV001787719 RCV001787720 RCV001787721 RCV001787723 RCV001787725 RCV001787722 RCV001787724 RCV002288488 RCV002513026 RCV005025050
NM_000540.3(RYR1):c.7372C>T (p.Arg2458Cys)	SNV Germline	Chr19:38500654	Likely pathogenic; drug response	Malignant hyperthermia, susceptibility to, 1 Condition: not provided Malignant hyperthermia of anesthesia RYR1-related disorder sevoflurane response - Toxicity King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion Congenital multicore myopathy with external ophthalmoplegia Central core myopathy methoxyflurane response - Toxicity succinylcholine response - Toxicity desflurane response - Toxicity enflurane response - Toxicity halothane response - Toxicity isoflurane response - Toxicity	Reviewed By Expert Panel	CA024784	rs_28933397	12 SubmittersRCV000013838 RCV000119711 RCV000614410 RCV000796565 RCV001787731 RCV002490361 RCV001787730 RCV001787732 RCV001787726 RCV001787727 RCV001787728 RCV001787729
NM_000540.3(RYR1):c.6617C>T (p.Thr2206Met)	SNV Germline	Chr19:38496283	Pathogenic	Malignant hyperthermia, susceptibility to, 1 Condition: not provided History of neonatal hypotonia Absence of the sacrum Ptosis Malignant hyperthermia of anesthesia RYR1-related disorder King Denborough syndrome Inborn genetic diseases Malignant hyperthermia, susceptibility to Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Central core myopathy King Denborough syndrome Central core myopathy	Reviewed By Expert Panel	CA024622	rs_118192177	24 SubmittersRCV000013846 RCV000119662 RCV000162149 RCV000606881 RCV000655558 RCV001729348 RCV004658961 RCV004556715 RCV005016260 RCV005624685
NM_000540.3(RYR1):c.325C>T (p.Arg109Trp)	SNV Germline	Chr19:38443612	Conflicting classifications of pathogenicity	Congenital multicore myopathy with external ophthalmoplegia Condition: not provided RYR1-related disorder Congenital myopathy with fiber type disproportion Malignant hyperthermia, susceptibility to, 1 Central core myopathy Centronuclear myopathy King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Central core myopathy	Criteria Provided Conflicting Classifications	CA024392	rs_118192173	17 SubmittersRCV000013860 RCV000119608 RCV000655512 RCV001199051 RCV003996093 RCV003447473 RCV004586005 RCV005003354
NM_000540.3(RYR1):c.7268T>A (p.Met2423Lys)	SNV Germline	Chr19:38499961	Conflicting classifications of pathogenicity	Congenital multicore myopathy with external ophthalmoplegia Condition: not provided Clubfoot EMG abnormality Lower limb amyotrophy Congenital myopathy with fiber type disproportion RYR1-related disorder King Denborough syndrome Congenital myopathy with fiber type disproportion Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Malignant hyperthermia, susceptibility to, 1 Neuromuscular disease Central core myopathy	Criteria Provided Conflicting Classifications	CA024732	rs_118192174	11 SubmittersRCV000013861 RCV000119694 RCV000415169 RCV001197410 RCV001851835 RCV002504782 RCV003996094 RCV004017243 RCV004813035
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg)	SNV Germline/somatic	Chr3:179234297	Pathogenic	Carcinoma of colon Hepatocellular carcinoma Non-small cell lung carcinoma Seborrheic keratosis Breast adenocarcinoma OVARIAN CANCER, EPITHELIAL, SOMATIC CLOVES syndrome Ovarian neoplasm PIK3CA related overgrowth syndrome Neoplasm Rosette-forming glioneuronal tumor MACRODACTYLY, SOMATIC Condition: not provided Lip and oral cavity carcinoma Abnormal cardiovascular system morphology CEREBRAL CAVERNOUS MALFORMATIONS 4, SOMATIC CLAPO syndrome Cerebrofacial Vascular Metameric Syndrome (CVMS) Segmental undergrowth associated with mainly venous malformation with capillary component Segmental undergrowth associated with lymphatic malformation Megalencephaly-capillary malformation-polymicrogyria syndrome Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes Congenital macrodactylia Gastric cancer Breast carcinoma Klippel-Trenaunay-like-Syndrome Rare venous malformation Rare combined vascular malformation PIK3CA-related disorder PIK3CA-Related Overgrowth Spectrum Disorders	Reviewed By Expert Panel	CA123326	rs_121913279	30 SubmittersRCV000014624 RCV000014626 RCV000014627 RCV000014628 RCV000014622 RCV000014623 RCV000024621 RCV000154516 RCV000201231 RCV000438435 RCV000487449 RCV000709691 RCV001092442 RCV001255686 RCV001327968 RCV001728091 RCV001729349 RCV001730472 RCV001705589 RCV001705590 RCV001807727 RCV001836707 RCV001526648 RCV002508124 RCV003128082 RCV003325939 RCV004527290 RCV004527291 RCV004737153 RCV005051734
NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu)	SNV Germline/somatic	Chr3:179234297	Pathogenic	Breast adenocarcinoma PIK3CA related overgrowth syndrome CLOVES syndrome Stroke disorder Macrodactyly of toe Ovarian neoplasm CLAPO syndrome Cowden syndrome 1 Megalencephaly-capillary malformation-polymicrogyria syndrome CEREBRAL CAVERNOUS MALFORMATIONS 4, SOMATIC Hemihypertrophy Condition: not provided Colorectal cancer Cavernous lymphangioma Neoplasm Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA123328	rs_121913279	13 SubmittersRCV000014629 RCV000201235 RCV000032905 RCV000626894 RCV000422323 RCV000709692 RCV000987367 RCV001253236 RCV001728092 RCV001526597 RCV002254265 RCV001807728 RCV004527292 RCV004668728 RCV004649064
NM_006218.4(PIK3CA):c.1636C>G (p.Gln546Glu)	SNV Somatic	Chr3:179218306	Likely pathogenic	Breast adenocarcinoma PIK3CA related overgrowth syndrome	Criteria Provided Single Submitter	CA123331	rs_121913286	2 SubmittersRCV000014630 RCV005251037
NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys)	SNV Germline/somatic	Chr3:179218303	Pathogenic/Likely pathogenic	Carcinoma of colon Seborrheic keratosis Breast adenocarcinoma OVARIAN CANCER, EPITHELIAL, SOMATIC Non-small cell lung carcinoma Megalencephaly-capillary malformation-polymicrogyria syndrome Sarcoma Ovarian neoplasm Condition: not provided CLOVES syndrome Abnormal cardiovascular system morphology PIK3CA related overgrowth syndrome Cerebrofacial Vascular Metameric Syndrome (CVMS) Segmental undergrowth associated with lymphatic malformation Gallbladder cancer Eccrine angiomatous hamartoma Gastric cancer HEMIFACIAL MYOHYPERPLASIA, SOMATIC Angioosteohypertrophic syndrome Rare venous malformation Rare combined vascular malformation Neoplasm PIK3CA overgrowth syndrome	Criteria Provided Multiple Submitters No Conflicts	CA123334	rs_104886003	19 SubmittersRCV000014633 RCV000014636 RCV000014631 RCV000014632 RCV000038671 RCV000055930 RCV000119356 RCV000422210 RCV001092440 RCV001262721 RCV001327963 RCV001290591 RCV001730473 RCV001705591 RCV001374447 RCV001786329 RCV002508125 RCV003764575 RCV004527293 RCV004527294 RCV004527295 RCV004668729 RCV004698419
NM_006218.4(PIK3CA):c.1634A>G (p.Glu545Gly)	SNV Somatic	Chr3:179218304	Pathogenic	Epidermal nevus Carcinoma of colon PIK3CA related overgrowth syndrome	Criteria Provided Single Submitter	CA123336	rs_121913274	2 SubmittersRCV000014638 RCV000014637 RCV004562209
NM_006218.4(PIK3CA):c.1636C>A (p.Gln546Lys)	SNV Germline/somatic	Chr3:179218306	Conflicting classifications of pathogenicity	Carcinoma of colon OVARIAN CANCER, EPITHELIAL, SOMATIC Prostate cancer PIK3CA related overgrowth syndrome Ovarian neoplasm Segmental undergrowth associated with mainly venous malformation with capillary component Condition: not provided Megalencephaly-capillary malformation-polymicrogyria syndrome	Criteria Provided Conflicting Classifications	CA123338	rs_121913286	8 SubmittersRCV000014640 RCV000014639 RCV000205164 RCV000201230 RCV000436582 RCV001705592 RCV001762046 RCV004698784
NM_007103.4(NDUFV1):c.1268C>T (p.Thr423Met)	SNV Germline	Chr11:67612225	Pathogenic/Likely pathogenic	Mitochondrial complex I deficiency Leigh syndrome Condition: not provided Mitochondrial complex I deficiency, nuclear type 1 Mitochondrial complex I deficiency, nuclear type 4	Criteria Provided Multiple Submitters No Conflicts	CA123735	rs_121913659	13 SubmittersRCV000015100 RCV002468969 RCV000200093 RCV000763271 RCV000735412
NM_007103.4(NDUFV1):c.175C>T (p.Arg59Ter)	SNV Germline	Chr11:67608571	Pathogenic	Mitochondrial complex I deficiency, nuclear type 4 Condition: not provided Leigh syndrome	Criteria Provided Multiple Submitters No Conflicts	CA082750	rs_768050261	7 SubmittersRCV000015101 RCV000494645 RCV001420935
NM_007103.4(NDUFV1):c.1022C>T (p.Ala341Val)	SNV Germline	Chr11:67611511	Pathogenic/Likely pathogenic	Mitochondrial complex I deficiency Mitochondrial complex I deficiency, nuclear type 4 Condition: not provided Leigh syndrome	Criteria Provided Multiple Submitters No Conflicts	CA123737	rs_121913660	7 SubmittersRCV000015102 RCV001331688 RCV001851864 RCV003155025
NM_007103.4(NDUFV1):c.640G>A (p.Glu214Lys)	SNV Germline	Chr11:67610510	Pathogenic	Mitochondrial complex I deficiency, nuclear type 4 Condition: not provided Leigh syndrome	Criteria Provided Multiple Submitters No Conflicts	CA123738	rs_121913661	4 SubmittersRCV000015103 RCV000497761 RCV003234905
NM_000814.6(GABRB3):c.650G>A (p.Arg217His)	SNV Germline	Chr15:26580351	Conflicting classifications of pathogenicity	Insomnia SUDDEN INFANT DEATH SYNDROME Epilepsy, childhood absence, susceptibility to, 5 Epilepsy, childhood absence, susceptibility to, 1 Developmental and epileptic encephalopathy, 43	Criteria Provided Conflicting Classifications	CA126256	rs_121913125	5 SubmittersRCV000017574 RCV001787803 RCV000703382 RCV003133118
NM_000249.4(MLH1):c.131C>T (p.Ser44Phe)	SNV Germline	Chr3:36996633	Pathogenic	Lynch syndrome Condition: not provided Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA004973	rs_63751109	4 SubmittersRCV000075169 RCV001269530 RCV000018608 RCV002381257
NM_000249.4(MLH1):c.986A>C (p.His329Pro)	SNV Germline	Chr3:37020411	Pathogenic	Hereditary cancer-predisposing syndrome Lynch syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colorectal neoplasms	Reviewed By Expert Panel	CA013465	rs_63750710	5 SubmittersRCV000215121 RCV000075954 RCV000018614 RCV005089272
NM_000249.4(MLH1):c.676C>T (p.Arg226Ter)	SNV Germline/somatic	Chr3:37012098	Pathogenic	Colorectal cancer, hereditary nonpolyposis, type 2 Lynch syndrome Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 1 Lynch-like syndrome Mismatch repair cancer syndrome 1 Breast and/or ovarian cancer Muir-Torré syndrome	Reviewed By Expert Panel	CA011496	rs_63751615	24 SubmittersRCV000018616 RCV000075801 RCV000115485 RCV000202205 RCV000524311 RCV001093685 RCV001249951 RCV001267883 RCV003149572 RCV003137535
NM_000249.4(MLH1):c.199G>T (p.Gly67Trp)	SNV Germline	Chr3:36996701	Pathogenic	Lynch syndrome Mismatch repair cancer syndrome 1 Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA008112	rs_63750206	4 SubmittersRCV000075475 RCV001267885 RCV000018618 RCV002415421
NM_000249.4(MLH1):c.350C>T (p.Thr117Met)	SNV Germline/somatic	Chr3:37004444	Pathogenic	Colorectal cancer, hereditary nonpolyposis, type 2 Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Lynch syndrome 1 Condition: not provided Lynch-like syndrome Endometrial carcinoma Colon cancer Inherited MMR deficiency (Lynch syndrome) Muir-Torré syndrome Mismatch repair cancer syndrome 1 Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA009872	rs_63750781	30 SubmittersRCV000018626 RCV000075666 RCV000524293 RCV000570680 RCV000144599 RCV000160518 RCV001249927 RCV001353627 RCV003229801 RCV004584176 RCV004795924
NM_000249.4(MLH1):c.1942C>T (p.Pro648Ser)	SNV Germline	Chr3:37048562	Pathogenic	Colorectal cancer, hereditary nonpolyposis, type 2 Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Condition: not provided Mismatch repair cancer syndrome 1	Reviewed By Expert Panel	CA007707	rs_63750899	7 SubmittersRCV000018629 RCV000075432 RCV000162472 RCV001040524 RCV001284501 RCV001267884
NM_000249.4(MLH1):c.806C>G (p.Ser269Ter)	SNV Germline	Chr3:37017521	Pathogenic	Lynch syndrome Colon cancer Condition: not provided Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA012452	rs_63750691	7 SubmittersRCV000075875 RCV000677880 RCV001723579 RCV000704907 RCV000018631 RCV002408469
NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr)	SNV Germline	Chr3:37048955	Pathogenic	Colorectal cancer, hereditary nonpolyposis, type 2 Lynch syndrome not specified Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Condition: not provided Colorectal cancer, hereditary nonpolyposis, type 2 Mismatch repair cancer syndrome 1 Muir-Torré syndrome Hereditary nonpolyposis colon cancer Muir-Torré syndrome Hereditary breast ovarian cancer syndrome	Reviewed By Expert Panel	CA008304	rs_63750217	26 SubmittersRCV000018632 RCV000075495 RCV000202172 RCV000213700 RCV000524270 RCV000519240 RCV000763105 RCV001328323 RCV002288511 RCV005251042
NM_000249.4(MLH1):c.200G>A (p.Gly67Glu)	SNV Germline	Chr3:36996702	Pathogenic	Hereditary cancer-predisposing syndrome Lynch syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA008188	rs_63749939	9 SubmittersRCV000132445 RCV000075482 RCV000216147 RCV000524267 RCV000018641
NM_001379500.1(COL18A1):c.12-2A>T	SNV Germline	Chr21:45405377	Pathogenic	Knobloch syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA410620250	rs_1467976097	3 SubmittersRCV000018652 RCV001851919
NM_001379500.1(COL18A1):c.3013+3A>C	SNV Germline	Chr21:45505281	Likely pathogenic	Knobloch syndrome Knobloch syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA2573054950	rs_770631950	3 SubmittersRCV000018656 RCV004782018
NM_000249.4(MLH1):c.793C>T (p.Arg265Cys)	SNV Germline	Chr3:37017508	Pathogenic	Colorectal cancer, hereditary nonpolyposis, type 2 Condition: not provided Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Carcinoma of colon Lynch syndrome 1 Muir-Torré syndrome Mismatch repair cancer syndrome 1 Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA012394	rs_63751194	25 SubmittersRCV000022502 RCV000034802 RCV000075872 RCV000220712 RCV000524317 RCV000677879 RCV001093673 RCV005025076
NM_000249.4(MLH1):c.1865T>A (p.Leu622His)	SNV Germline	Chr3:37047652	Pathogenic	Colorectal cancer, hereditary nonpolyposis, type 2 Lynch syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Condition: not provided	Reviewed By Expert Panel	CA007237	rs_63750693	7 SubmittersRCV000022505 RCV000075389 RCV001804746 RCV001851995 RCV002408475 RCV004998105
NM_000377.3(WAS):c.814T>C (p.Ser272Pro)	SNV Germline	ChrX:48688336	Likely pathogenic	X-linked severe congenital neutropenia X-linked severe congenital neutropenia Thrombocytopenia 1 Wiskott-Aldrich syndrome	Criteria Provided Single Submitter	CA281101	rs_387906716	2 SubmittersRCV000022858 RCV003764631
NM_000377.3(WAS):c.881T>C (p.Ile294Thr)	SNV Germline	ChrX:48688403	Pathogenic/Likely pathogenic	X-linked severe congenital neutropenia X-linked severe congenital neutropenia Thrombocytopenia 1 Wiskott-Aldrich syndrome Condition: not provided X-Linked Neutropenia WAS-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA281104	rs_387906717	10 SubmittersRCV000022859 RCV001058962 RCV001268500 RCV004782021 RCV003407355
NM_001375834.1(WIPF1):c.1301C>G (p.Ser434Ter)	SNV Germline	Chr2:174567902	Pathogenic	Wiskott-Aldrich syndrome 2	No Assertion Criteria Provided	CA349336559	rs_1574785867	1 SubmittersRCV000023193
NM_018344.6(SLC29A3):c.1088G>A (p.Arg363Gln)	SNV Germline	Chr10:71362268	Pathogenic	H syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA129561	rs_387907066	3 SubmittersRCV000023938 RCV005003403
NM_018344.6(SLC29A3):c.1087C>T (p.Arg363Trp)	SNV Germline	Chr10:71362267	Pathogenic/Likely pathogenic	H syndrome Condition: not provided SLC29A3-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA129562	rs_387907067	5 SubmittersRCV000023939 RCV000493511 RCV003398566
NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys)	SNV Germline/somatic	Chr3:179218294	Pathogenic	CLOVES syndrome Ovarian neoplasm Non-small cell lung carcinoma Condition: not provided CLAPO syndrome Lip and oral cavity carcinoma CEREBRAL CAVERNOUS MALFORMATIONS 4, SOMATIC Abnormal cardiovascular system morphology Cerebrofacial Vascular Metameric Syndrome (CVMS) Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes PIK3CA-related overgrowth PIK3CA-related disorder Cowden syndrome Megalencephaly-capillary malformation-polymicrogyria syndrome HEMIFACIAL MYOHYPERPLASIA, SOMATIC Rare venous malformation PIK3CA related overgrowth syndrome Neoplasm	Reviewed By Expert Panel	CA333572	rs_121913273	18 SubmittersRCV000024622 RCV000151649 RCV000154513 RCV000416776 RCV000709693 RCV001255687 RCV001728093 RCV001327962 RCV001730477 RCV001836714 RCV003987334 RCV004532404 RCV002513230 RCV004698785 RCV003764635 RCV004527296 RCV003458190 RCV004668742
NM_006218.4(PIK3CA):c.1258T>C (p.Cys420Arg)	SNV Germline/somatic	Chr3:179210192	Pathogenic	CLOVES syndrome PIK3CA related overgrowth syndrome Ovarian neoplasm CLAPO syndrome Abnormal cardiovascular system morphology Capillary malformation Rare combined vascular malformation Segmental undergrowth associated with lymphatic malformation Colorectal cancer Condition: not provided Cowden syndrome Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA180900	rs_121913272	16 SubmittersRCV000024623 RCV000201232 RCV000154512 RCV000709694 RCV001327960 RCV001526612 RCV004527297 RCV001705599 RCV005603590 RCV002054475 RCV003588566 RCV004668743
NM_000249.4(MLH1):c.1381A>T (p.Lys461Ter)	SNV Germline/somatic	Chr3:37025979	Pathogenic	Hereditary cancer-predisposing syndrome Lynch syndrome Condition: not provided Colorectal cancer, hereditary nonpolyposis, type 2 Mismatch repair cancer syndrome 1 Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colorectal neoplasms Lynch-like syndrome Lynch syndrome 1	Reviewed By Expert Panel	CA005183	rs_63750540	18 SubmittersRCV000132422 RCV000030213 RCV000202201 RCV000659871 RCV000763102 RCV000524235 RCV001249929 RCV001804748
NM_000249.4(MLH1):c.1937A>G (p.Tyr646Cys)	SNV Germline	Chr3:37048557	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Lynch syndrome 1 not specified Lynch syndrome	Criteria Provided Conflicting Classifications	CA007678	rs_35045067	16 SubmittersRCV000131964 RCV000587551 RCV000524258 RCV000662690 RCV001093659 RCV002267800 RCV003996129
NM_000249.4(MLH1):c.2213G>A (p.Gly738Glu)	SNV Germline	Chr3:37050595	Conflicting classifications of pathogenicity	Lynch syndrome not specified Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Condition: not provided Muir-Torré syndrome	Criteria Provided Conflicting Classifications	CA009110	rs_148317871	14 SubmittersRCV000030221 RCV000160545 RCV000411992 RCV000524281 RCV000573289 RCV000767194 RCV005357160
NM_000249.4(MLH1):c.298C>T (p.Arg100Ter)	SNV Germline/somatic	Chr3:37001045	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Condition: not provided Hereditary nonpolyposis colorectal neoplasms Lynch-like syndrome	Reviewed By Expert Panel	CA009575	rs_63751221	18 SubmittersRCV000030223 RCV000569466 RCV000576742 RCV000220956 RCV000524287 RCV001250008
NM_000249.4(MLH1):c.454-1G>A	SNV Germline	Chr3:37008813	Pathogenic	Colorectal cancer, hereditary nonpolyposis, type 2 Lynch syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms Condition: not provided	Reviewed By Expert Panel	CA010570	rs_193922370	7 SubmittersRCV000018611 RCV000030226 RCV001804749 RCV001067834 RCV001725119
NM_000249.4(MLH1):c.94A>G (p.Ile32Val)	SNV Germline	Chr3:36993641	Conflicting classifications of pathogenicity	Lynch syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome	Criteria Provided Conflicting Classifications	CA013254	rs_2020872	9 SubmittersRCV000030233 RCV000217828 RCV000524324 RCV000568967 RCV001030560
NM_000251.3(MSH2):c.1030C>T (p.Gln344Ter)	SNV Germline	Chr2:47416383	Pathogenic	Lynch syndrome Condition: not provided Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Muir-Torré syndrome Lynch syndrome 1 Mismatch repair cancer syndrome 2 Lynch syndrome 1	Reviewed By Expert Panel	CA016912	rs_63750245	8 SubmittersRCV000030234 RCV000759091 RCV001009753 RCV001224622 RCV005394174 RCV003450651
NM_000251.3(MSH2):c.2038C>T (p.Arg680Ter)	SNV Germline/somatic	Chr2:47476399	Pathogenic	Lynch syndrome Lynch syndrome 1 Hereditary cancer-predisposing syndrome Condition: not provided Malignant tumor of ascending colon Hereditary nonpolyposis colorectal neoplasms Lynch-like syndrome Lynch syndrome 4	Reviewed By Expert Panel	CA019872	rs_63749932	21 SubmittersRCV000030248 RCV000576755 RCV000115515 RCV000202174 RCV000677886 RCV000524372 RCV001250040 RCV004555850
NM_000251.3(MSH2):c.421A>G (p.Met141Val)	SNV Germline	Chr2:47410148	Conflicting classifications of pathogenicity	Lynch syndrome Condition: not provided Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 1 Muir-Torré syndrome	Criteria Provided Conflicting Classifications	CA021148	rs_193922374	8 SubmittersRCV000030254 RCV000212584 RCV000115531 RCV001079015 RCV005420519 RCV005357161
NM_000251.3(MSH2):c.942+3A>T	SNV Germline/somatic	Chr2:47414421	Pathogenic	Lynch syndrome 1 Lynch syndrome Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Lynch-like syndrome Carcinoma of colon Hereditary nonpolyposis colon cancer Breast carcinoma Mismatch repair cancer syndrome 2 Lynch syndrome 1 Muir-Torré syndrome MSH2-related disorder	Reviewed By Expert Panel	CA022585	rs_193922376	33 SubmittersRCV000001844 RCV000030256 RCV000115549 RCV000201997 RCV000524424 RCV001249912 RCV001353565 RCV001731319 RCV001579303 RCV005025083 RCV004734535
NM_000179.3(MSH6):c.38A>C (p.Lys13Thr)	SNV Germline	Chr2:47783271	Conflicting classifications of pathogenicity	Lynch syndrome Condition: not provided Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 5 not specified Endometrial carcinoma Endometrial carcinoma Mismatch repair cancer syndrome 3 Lynch syndrome 5	Criteria Provided Conflicting Classifications	CA014649	rs_41294988	12 SubmittersRCV000030274 RCV000160705 RCV000569787 RCV000627725 RCV000662751 RCV001818192 RCV003466879 RCV005394175
NM_000179.3(MSH6):c.975A>G (p.Gln325=)	SNV Germline	Chr2:47798958	Conflicting classifications of pathogenicity	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms not specified Hereditary cancer-predisposing syndrome Lynch syndrome 5	Criteria Provided Conflicting Classifications	CA016697	rs_193922345	6 SubmittersRCV000030278 RCV000805479 RCV000423476 RCV002256010 RCV005420520
NM_000377.3(WAS):c.310C>T (p.Gln104Ter)	SNV Germline	ChrX:48685583	Likely pathogenic	Wiskott-Aldrich syndrome	Criteria Provided Single Submitter	CA342894	rs_193922414	1 SubmittersRCV000030594
NM_000377.3(WAS):c.37C>T (p.Arg13Ter)	SNV Germline	ChrX:48683890	Pathogenic	Wiskott-Aldrich syndrome Wiskott-Aldrich syndrome Thrombocytopenia 1 X-linked severe congenital neutropenia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA342897	rs_193922415	5 SubmittersRCV000030595 RCV001230612 RCV001311067
NM_000377.3(WAS):c.538C>A (p.His180Asn)	SNV Germline	ChrX:48686113	Conflicting classifications of pathogenicity	Thrombocytopenia 1 not specified Condition: not provided Wiskott-Aldrich syndrome Thrombocytopenia 1 X-linked severe congenital neutropenia WAS-related disorder	Criteria Provided Conflicting Classifications	CA162689	rs_145040665	9 SubmittersRCV000030596 RCV000122270 RCV000419963 RCV001086760 RCV003914875
NM_006218.4(PIK3CA):c.2740G>A (p.Gly914Arg)	SNV Germline/somatic	Chr3:179230077	Pathogenic	Megalencephaly-capillary malformation-polymicrogyria syndrome Condition: not provided Abnormal cardiovascular system morphology Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes PIK3CA related overgrowth syndrome Cowden syndrome 5 CLOVES syndrome PIK3CA-related disorder Inborn genetic diseases PIK3C1-related disorder Cowden syndrome Angioosteohypertrophic syndrome Abnormal cerebral morphology	Reviewed By Expert Panel	CA130467	rs_587776932	21 SubmittersRCV000032907 RCV000414672 RCV001327966 RCV001836717 RCV003233078 RCV001594376 RCV004798751 RCV004737167 RCV004955261 RCV005222712 RCV001852661 RCV002254272 RCV002274888
NM_006218.4(PIK3CA):c.1133G>A (p.Cys378Tyr)	SNV Germline/somatic	Chr3:179204576	Pathogenic	Megalencephaly-capillary malformation-polymicrogyria syndrome PIK3CA related overgrowth syndrome Cowden syndrome Epidermal nevus Condition: not provided PIK3CA-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA130469	rs_397514565	10 SubmittersRCV000032908 RCV000201233 RCV000806643 RCV005229840 RCV005241335 RCV004532477
NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr)	SNV Germline/somatic	Chr3:179234296	Pathogenic	Megalencephaly-capillary malformation-polymicrogyria syndrome Non-small cell lung carcinoma Cowden syndrome 13 conditions Condition: not provided Segmental undergrowth associated with mainly venous malformation with capillary component PIK3CA related overgrowth syndrome CLOVES syndrome HEMIFACIAL MYOHYPERPLASIA, SOMATIC PIK3CA overgrowth syndrome Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA130471	rs_121913281	14 SubmittersRCV000032909 RCV000038675 RCV000698423 RCV000763508 RCV001092441 RCV001705625 RCV003233079 RCV002226661 RCV003882732 RCV004698336 RCV004955262
NM_005027.4(PIK3R2):c.1117G>A (p.Gly373Arg)	SNV Germline	Chr19:18162974	Pathogenic	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 Inborn genetic diseases Megalencephaly-capillary malformation-polymicrogyria syndrome Condition: not provided Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes Seizure PIK3R2-related disorder Intellectual disability	Reviewed By Expert Panel	CA130573	rs_587776934	27 SubmittersRCV000033029 RCV000190661 RCV000416575 RCV000366413 RCV001836718 RCV001849288 RCV003914893 RCV001526656
NM_139242.4(MTFMT):c.626C>T (p.Ser209Leu)	SNV Germline	Chr15:65021533	Pathogenic	Combined oxidative phosphorylation defect type 15 Leigh syndrome Mitochondrial complex I deficiency, nuclear type 27 Condition: not provided 6 conditions See cases MTFMT-related disorder Inborn genetic diseases Mitochondrial complex I deficiency, nuclear type 27 Combined oxidative phosphorylation defect type 15 MTFMT-Related Disorders	Criteria Provided Multiple Submitters No Conflicts	CA130599	rs_201431517	21 SubmittersRCV000033047 RCV000190888 RCV000735417 RCV000320667 RCV000415235 RCV002251943 RCV005256554 RCV002513312 RCV002477042 RCV005055532
NC_012920.1(MT-ATP6):m.9191T>C	SNV Germline	ChrMT:9191	Likely pathogenic	Leigh syndrome Mitochondrial disease	Reviewed By Expert Panel	CA345914	rs_1556423632	2 SubmittersRCV000144006 RCV002221481
NM_000179.3(MSH6):c.1867C>G (p.Pro623Ala)	SNV Germline	Chr2:47799850	Conflicting classifications of pathogenicity	Condition: not provided Lynch syndrome not specified Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms MSH6-related disorder	Criteria Provided Conflicting Classifications	CA009344	rs_3136334	14 SubmittersRCV000034494 RCV000074692 RCV000121577 RCV000128867 RCV000662448 RCV001082588 RCV004534719
NM_000179.3(MSH6):c.2667G>T (p.Gln889His)	SNV Germline	Chr2:47800650	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome not specified Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Hereditary cancer MSH6-related disorder	Criteria Provided Conflicting Classifications	CA010704	rs_149945495	16 SubmittersRCV000034496 RCV000115393 RCV000235185 RCV000410628 RCV001080247 RCV003492327 RCV004739319
NM_000249.4(MLH1):c.1964T>C (p.Ile655Thr)	SNV Germline	Chr3:37048584	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Colorectal cancer, non-polyposis Hereditary nonpolyposis colorectal neoplasms not specified Colorectal cancer, hereditary nonpolyposis, type 2 Lynch syndrome MLH1-related disorder	Criteria Provided Conflicting Classifications	CA007813	rs_63751225	18 SubmittersRCV000034544 RCV000128924 RCV000148623 RCV001085205 RCV000781539 RCV000662533 RCV004806018 RCV003944879
NM_000251.3(MSH2):c.1748A>G (p.Asn583Ser)	SNV Germline	Chr2:47471051	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Colorectal cancer, non-polyposis Lynch syndrome Mismatch repair cancer syndrome 1 Muir-Torré syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms not specified Malignant tumor of breast Lynch syndrome 1 Breast and/or ovarian cancer	Criteria Provided Conflicting Classifications	CA019161	rs_201118107	18 SubmittersRCV000034553 RCV000115510 RCV000148636 RCV000076263 RCV000765667 RCV001079601 RCV002265576 RCV001354468 RCV005246597 RCV003492329
NM_000251.3(MSH2):c.1787A>G (p.Asn596Ser)	SNV Germline	Chr2:47475052	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Colorectal cancer, non-polyposis Lynch syndrome not specified Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms Breast and/or ovarian cancer Mismatch repair cancer syndrome 1 Muir-Torré syndrome Lynch syndrome 1	Criteria Provided Conflicting Classifications	CA019304	rs_41295288	24 SubmittersRCV000034554 RCV000115511 RCV000148641 RCV000076286 RCV000200985 RCV000659882 RCV001081309 RCV003149607 RCV000765668
NM_000251.3(MSH2):c.1837A>C (p.Asn613His)	SNV Germline	Chr2:47475102	Conflicting classifications of pathogenicity	Condition: not provided Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Lynch syndrome Muir-Torré syndrome Lynch syndrome 1 Mismatch repair cancer syndrome 2	Criteria Provided Conflicting Classifications	CA019422	rs_200147804	6 SubmittersRCV000034555 RCV000705544 RCV000771463 RCV004806020 RCV005394197
NM_000251.3(MSH2):c.2425G>A (p.Glu809Lys)	SNV Germline	Chr2:47478486	Conflicting classifications of pathogenicity	Condition: not provided not specified Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Malignant tumor of breast Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 1 MSH2-related disorder Hereditary nonpolyposis colon cancer	Criteria Provided Conflicting Classifications	CA020577	rs_202145681	15 SubmittersRCV000034556 RCV000121564 RCV000129519 RCV001030484 RCV001356651 RCV001080801 RCV001093691 RCV004534720 RCV001787035
NM_000535.7(PMS2):c.1437C>G (p.His479Gln)	SNV Germline	Chr7:5987328	Conflicting classifications of pathogenicity	Condition: not provided Lynch syndrome not specified Hereditary cancer-predisposing syndrome Lynch syndrome 4 Hereditary nonpolyposis colorectal neoplasms Malignant tumor of breast Breast and/or ovarian cancer Ovarian cancer	Criteria Provided Conflicting Classifications	CA009671	rs_63750685	26 SubmittersRCV000034615 RCV000076809 RCV000121844 RCV000162366 RCV000625386 RCV001081746 RCV001356193 RCV003149610 RCV003153324
NM_000535.7(PMS2):c.2149G>A (p.Val717Met)	SNV Germline	Chr7:5982849	Conflicting classifications of pathogenicity	Condition: not provided Lynch syndrome Hereditary cancer-predisposing syndrome Lynch syndrome 4 not specified Lynch syndrome 4 Mismatch repair cancer syndrome 1 Hereditary nonpolyposis colorectal neoplasms Breast and/or ovarian cancer Hereditary cancer	Criteria Provided Conflicting Classifications	CA010907	rs_201671325	27 SubmittersRCV000034624 RCV000199450 RCV000115676 RCV000411225 RCV000417397 RCV000515268 RCV001081398 RCV001798066 RCV003492332
NM_000535.7(PMS2):c.53T>C (p.Ile18Thr)	SNV Germline	Chr7:6006002	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Lynch syndrome not specified Lynch syndrome 4 Mismatch repair cancer syndrome 1 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 4 Breast and/or ovarian cancer PMS2-related disorder	Criteria Provided Conflicting Classifications	CA012293	rs_201343342	19 SubmittersRCV000034630 RCV000115698 RCV000123089 RCV000212836 RCV000515284 RCV001083711 RCV001159382 RCV003149612 RCV003944883
NM_000535.7(PMS2):c.572A>G (p.Tyr191Cys)	SNV Germline	Chr7:5999241	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome not specified Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 4 Breast and/or ovarian cancer Lynch syndrome	Criteria Provided Conflicting Classifications	CA012331	rs_375289386	16 SubmittersRCV000034631 RCV000132453 RCV000221255 RCV001080249 RCV000662753 RCV001798067 RCV003996173
NM_000535.7(PMS2):c.708G>T (p.Leu236Phe)	SNV Germline	Chr7:5997421	Conflicting classifications of pathogenicity	Condition: not provided Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Lynch syndrome 4 not specified Mismatch repair cancer syndrome 4 Lynch syndrome 4	Criteria Provided Conflicting Classifications	CA012634	rs_201395630	11 SubmittersRCV000034634 RCV000231924 RCV000165656 RCV000412437 RCV001290448 RCV005042107
NM_000535.7(PMS2):c.86G>C (p.Gly29Ala)	SNV Germline	Chr7:6005969	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome not specified Lynch syndrome Lynch syndrome 4 Breast and/or ovarian cancer PMS2-related disorder Hereditary nonpolyposis colorectal neoplasms	Criteria Provided Conflicting Classifications	CA013092	rs_146176004	22 SubmittersRCV000034637 RCV000115707 RCV000121855 RCV000123093 RCV000786854 RCV003492334 RCV003891470 RCV001082141
NM_000535.7(PMS2):c.953A>G (p.Tyr318Cys)	SNV Germline	Chr7:5992008	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome not specified Lynch syndrome 4 Hereditary nonpolyposis colorectal neoplasms Malignant tumor of breast PMS2-related disorder	Criteria Provided Conflicting Classifications	CA013361	rs_139438201	19 SubmittersRCV000034638 RCV000115712 RCV000212860 RCV000987839 RCV001083014 RCV001354089 RCV003952396
NM_024426.6(WT1):c.1063T>C (p.Cys355Arg)	SNV Germline	Chr11:32399998	Conflicting classifications of pathogenicity	Condition: not provided not specified Wilms tumor 1 11p partial monosomy syndrome Drash syndrome Frasier syndrome Hereditary cancer-predisposing syndrome Hereditary cancer Wilms tumor 1 WT1-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA016364	rs_142059681	9 SubmittersRCV000034780 RCV000122312 RCV001081983 RCV002255123 RCV004700302 RCV005402808 RCV004549406 RCV004965266
NM_000251.3(MSH2):c.2276G>A (p.Gly759Glu)	SNV Germline	Chr2:47478337	Conflicting classifications of pathogenicity	Condition: not provided Lynch syndrome 1 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA020397	rs_386833406	3 SubmittersRCV000034800 RCV000986685 RCV002444462
NM_000540.3(RYR1):c.10204T>G (p.Cys3402Gly)	SNV Germline	Chr19:38519399	Pathogenic	Congenital myopathy with fiber type disproportion Central core myopathy Condition: not provided not specified RYR1-related disorder Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 RYR1-related myopathy Central core myopathy Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Congenital multicore myopathy with external ophthalmoplegia	Reviewed By Expert Panel	CA023822	rs_367543058	14 SubmittersRCV000034925 RCV000233916 RCV000147397 RCV000401146 RCV000529599 RCV004786294 RCV003996181 RCV005252703 RCV005394216
NM_000179.3(MSH6):c.3173-1G>C	SNV Germline	Chr2:47803419	Pathogenic/Likely pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Hereditary nonpolyposis colon cancer Lynch syndrome 5	Criteria Provided Multiple Submitters No Conflicts	CA011783	rs_397515875	10 SubmittersRCV000035322 RCV000115404 RCV000201971 RCV000697257 RCV003323369 RCV003450661
NM_000179.3(MSH6):c.3991C>T (p.Arg1331Ter)	SNV Germline	Chr2:47806641	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 5 Endometrial carcinoma Hereditary nonpolyposis colon cancer Endometrial carcinoma Mismatch repair cancer syndrome 3 Lynch syndrome 5 Breast and/or ovarian cancer MSH6-related disorder	Reviewed By Expert Panel	CA015060	rs_267608094	25 SubmittersRCV000035325 RCV000131743 RCV000202305 RCV000524203 RCV000410467 RCV003460548 RCV001824584 RCV002490471 RCV003492340 RCV004528168
NM_000256.3(MYBPC3):c.821+1G>A	SNV Germline/somatic	Chr11:47347856	Pathogenic	Cardiovascular phenotype Primary familial hypertrophic cardiomyopathy Condition: not provided Hypertrophic cardiomyopathy Cardiomyopathy Hypertrophic cardiomyopathy 4 Left ventricular noncompaction 10 Primary dilated cardiomyopathy SUDDEN INFANT DEATH SYNDROME MYBPC3-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA015883	rs_397516073	27 SubmittersRCV000249601 RCV000845451 RCV000158313 RCV000168401 RCV001176299 RCV001807754 RCV002288533 RCV001375643 RCV001787823 RCV004549435
NM_006218.4(PIK3CA):c.1252G>A (p.Glu418Lys)	SNV Germline/somatic	Chr3:179210186	Pathogenic	not specified CLOVES syndrome Neoplasm PIK3CA related overgrowth syndrome PIK3CA-related disorder	Criteria Provided Single Submitter	CA136365	rs_397517199	5 SubmittersRCV000038669 RCV001256198 RCV004668761 RCV003458192 RCV004534818
NM_006218.4(PIK3CA):c.1637A>G (p.Gln546Arg)	SNV Somatic	Chr3:179218307	Pathogenic	Ovarian neoplasm Abnormal cardiovascular system morphology Neoplasm PIK3CA related overgrowth syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA136371	rs_397517201	6 SubmittersRCV000038672 RCV001327965 RCV004668762 RCV003458193 RCV002254273
NM_006218.4(PIK3CA):c.3073A>G (p.Thr1025Ala)	SNV Germline/somatic	Chr3:179234230	Pathogenic/Likely pathogenic	Non-small cell lung carcinoma Condition: not provided PIK3CA related overgrowth syndrome CLOVES syndrome	Criteria Provided Multiple Submitters No Conflicts	CA136374	rs_397517202	5 SubmittersRCV000038673 RCV002254274 RCV003458194 RCV001526503
NM_000540.3(RYR1):c.97A>G (p.Lys33Glu)	SNV Germline	Chr19:38440796	Likely pathogenic	King Denborough syndrome Condition: not provided Malignant hyperthermia, susceptibility to, 1 RYR1-related disorder	Reviewed By Expert Panel	CA025005	rs_193922746	5 SubmittersRCV000049252 RCV000119774 RCV001588881 RCV003591651
NM_000540.3(RYR1):c.10348-6C>G	SNV Germline	Chr19:38523211	Pathogenic	RYR1-related disorder Condition: not provided Central core myopathy Congenital multicore myopathy with external ophthalmoplegia King Denborough syndrome Central core myopathy Inborn genetic diseases King Denborough syndrome Central core myopathy Congenital multicore myopathy with external ophthalmoplegia King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 1 Centronuclear myopathy Myopathy, RYR1-associated RYR1-related myopathy	Reviewed By Expert Panel	CA023836	rs_193922837	18 SubmittersRCV000535801 RCV000119410 RCV005359124 RCV001775081 RCV000624604 RCV001249074 RCV005003479 RCV003997313 RCV004586556 RCV004689614 RCV005430496
NM_001378615.1(CC2D2A):c.3544T>C (p.Trp1182Arg)	SNV Germline	Chr4:15570446	Conflicting classifications of pathogenicity	Meckel syndrome, type 6 CC2D2A-related disorder Joubert syndrome Meckel-Gruber syndrome Condition: not provided Joubert syndrome 9 Meckel syndrome, type 6 COACH syndrome 2 Retinitis pigmentosa 93	Criteria Provided Conflicting Classifications	CA144229	rs_386833755	7 SubmittersRCV000049719 RCV003335082 RCV001378831 RCV001723639 RCV005031533
NM_001378615.1(CC2D2A):c.517C>T (p.Arg173Ter)	SNV Germline	Chr4:15510217	Pathogenic	Meckel syndrome, type 6 Condition: not provided Joubert syndrome 9 Retinitis pigmentosa 93 Meckel syndrome, type 6 COACH syndrome 2 Joubert syndrome Meckel-Gruber syndrome	Criteria Provided Multiple Submitters No Conflicts	CA144239	rs_386833763	7 SubmittersRCV000049727 RCV004700347 RCV005031535 RCV001853050
NM_000540.3(RYR1):c.7354C>T (p.Arg2452Trp)	SNV Germline	Chr19:38500636	Likely pathogenic; drug response	Central core myopathy Condition: not provided RYR1-related disorder methoxyflurane response - Toxicity sevoflurane response - Toxicity succinylcholine response - Toxicity Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome desflurane response - Toxicity halothane response - Toxicity enflurane response - Toxicity isoflurane response - Toxicity RYR1-related myopathy	Reviewed By Expert Panel	CA024770	rs_118192124	15 SubmittersRCV000056226 RCV000119706 RCV000527240 RCV001787851 RCV001787852 RCV001787853 RCV002281899 RCV001729374 RCV001787847 RCV001787849 RCV001787848 RCV001787850 RCV002221195
NM_000540.3(RYR1):c.7361G>A (p.Arg2454His)	SNV Germline	Chr19:38500643	Pathogenic; drug response	Central core myopathy Condition: not provided desflurane response - Toxicity enflurane response - Toxicity isoflurane response - Toxicity Malignant hyperthermia, susceptibility to, 1 RYR1-related disorder halothane response - Toxicity methoxyflurane response - Toxicity sevoflurane response - Toxicity succinylcholine response - Toxicity Malignant hyperthermia of anesthesia King Denborough syndrome Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1	Reviewed By Expert Panel	CA024781	rs_118192122	17 SubmittersRCV000056227 RCV000119710 RCV001787854 RCV001787855 RCV001787857 RCV000709760 RCV000699835 RCV001787856 RCV001787858 RCV001787859 RCV001787860 RCV004700357 RCV005016355
NM_000540.3(RYR1):c.7522C>T (p.Arg2508Cys)	SNV Germline	Chr19:38500898	Likely pathogenic	Central core myopathy Condition: not provided Congenital myopathy with fiber type disproportion RYR1-related disorder Abnormality of the musculature Inborn genetic diseases Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome	Reviewed By Expert Panel	CA024819	rs_118192178	13 SubmittersRCV000056228 RCV000119718 RCV001198416 RCV000552166 RCV001814037 RCV000624571 RCV002281900 RCV001731347
NM_000540.3(RYR1):c.14473C>T (p.Arg4825Cys)	SNV Germline	Chr19:38580090	Conflicting classifications of pathogenicity	Central core myopathy Condition: not provided Malignant hyperthermia, susceptibility to, 1 RYR1-related disorder Lynch syndrome 5	Criteria Provided Conflicting Classifications	CA024150	rs_118192180	6 SubmittersRCV000056232 RCV000119518 RCV003996488 RCV001854163 RCV004555852
NM_000540.3(RYR1):c.14677C>T (p.Arg4893Trp)	SNV Germline	Chr19:38584973	Pathogenic/Likely pathogenic	Condition: not provided Central core myopathy RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion King Denborough syndrome Central core myopathy	Criteria Provided Multiple Submitters No Conflicts	CA024220	rs_118192150	9 SubmittersRCV000119545 RCV000056236 RCV001046476 RCV003996489 RCV002496742
NM_001278716.2(FBXL4):c.1303C>T (p.Arg435Ter)	SNV Germline	Chr6:98899282	Pathogenic	Mitochondrial DNA depletion syndrome 13 Mitochondrial DNA depletion syndrome Inborn genetic diseases Condition: not provided Leigh syndrome	Criteria Provided Multiple Submitters No Conflicts	CA144886	rs_201889294	12 SubmittersRCV000056328 RCV000604628 RCV000622490 RCV001837446 RCV005237491
NM_001278716.2(FBXL4):c.1444C>T (p.Arg482Trp)	SNV Germline	Chr6:98875673	Pathogenic/Likely pathogenic	Mitochondrial DNA depletion syndrome 13 Mitochondrial encephalomyopathy Global developmental delay Condition: not provided Leigh syndrome Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA144891	rs_398123061	13 SubmittersRCV000056330 RCV000162170 RCV000224233 RCV003155062 RCV003242974
NM_000218.3(KCNQ1):c.1135T>C (p.Trp379Arg)	SNV Germline	Chr11:2587576	Conflicting classifications of pathogenicity	SUDDEN INFANT DEATH SYNDROME Long QT syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA005370	rs_199472768	5 SubmittersRCV000057559 RCV000462343 RCV000505766
NM_000218.3(KCNQ1):c.820A>G (p.Ile274Val)	SNV Germline	Chr11:2572885	Conflicting classifications of pathogenicity	Congenital long QT syndrome Condition: not provided not specified SUDDEN INFANT DEATH SYNDROME Long QT syndrome Atrial fibrillation, familial, 3 Cardiac arrhythmia Cardiovascular phenotype Short QT syndrome type 2 Long QT syndrome 1 Jervell and Lange-Nielsen syndrome 1	Criteria Provided Conflicting Classifications	CA008353	rs_199472728	10 SubmittersRCV000057771 RCV000182121 RCV000219577 RCV000148546 RCV001080930 RCV001108025 RCV001841690 RCV002426616 RCV001108024 RCV001102797 RCV001108026
NM_000238.4(KCNH2):c.2684C>T (p.Thr895Met)	SNV Germline	Chr7:150948452	Conflicting classifications of pathogenicity	SUDDEN INFANT DEATH SYNDROME Long QT syndrome 2 Long QT syndrome Condition: not provided Long QT syndrome 1 Cardiac arrhythmia Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA007147	rs_199473434	10 SubmittersRCV000058151 RCV000988000 RCV000699702 RCV001588890 RCV001256913 RCV001841715 RCV004019008
NM_000335.5(SCN5A):c.2039G>A (p.Arg680His)	SNV Germline	Chr3:38597952	Conflicting classifications of pathogenicity	SUDDEN INFANT DEATH SYNDROME not specified Condition: not provided Cardiac arrhythmia Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA015757	rs_199473142	7 SubmittersRCV000058473 RCV000156507 RCV001699115 RCV001842306 RCV004019041
NM_000335.5(SCN5A):c.2989G>A (p.Ala997Thr)	SNV Germline	Chr3:38581170	Conflicting classifications of pathogenicity	Brugada syndrome Brugada syndrome SUDDEN INFANT DEATH SYNDROME Condition: not provided Sick sinus syndrome 1 Ventricular fibrillation, paroxysmal familial, type 1 Long QT syndrome 3 Dilated cardiomyopathy 1E Progressive familial heart block, type 1A Cardiovascular phenotype Cardiac arrhythmia Cardiomyopathy 8 conditions	Criteria Provided Conflicting Classifications	CA016710	rs_137854609	16 SubmittersRCV000058541 RCV000171570 RCV000766794 RCV001145182 RCV001145179 RCV001145180 RCV001145181 RCV001147136 RCV004019046 RCV001842324 RCV003149712 RCV005394295
NM_000335.5(SCN5A):c.481G>A (p.Glu161Lys)	SNV Germline	Chr3:38622401	Pathogenic/Likely pathogenic	Brugada syndrome Condition: not provided Cardiovascular phenotype Brugada syndrome 1 Sick sinus syndrome 1 Dilated cardiomyopathy 1E SUDDEN INFANT DEATH SYNDROME Brugada syndrome 1 Long QT syndrome	Criteria Provided Multiple Submitters No Conflicts	CA018588	rs_199473062	10 SubmittersRCV000058710 RCV001699194 RCV002336213 RCV004786347 RCV005428999
NM_000335.5(SCN5A):c.4892G>A (p.Arg1631His)	SNV Germline	Chr3:38551477	Conflicting classifications of pathogenicity	Conduction system disorder Condition: not provided SUDDEN INFANT DEATH SYNDROME Long QT syndrome 3 Brugada syndrome 1 Sick sinus syndrome 1 Brugada syndrome Cardiovascular phenotype Brugada syndrome 1 Cardiac arrhythmia	Criteria Provided Conflicting Classifications	CA018735	rs_199473286	11 SubmittersRCV000058723 RCV000519341 RCV001787861 RCV001258072 RCV001530198 RCV003996546 RCV002336214 RCV003450919 RCV003591672
NM_000335.5(SCN5A):c.5284G>A (p.Val1762Met)	SNV Germline	Chr3:38551085	Pathogenic	Congenital long QT syndrome Condition: not provided SUDDEN INFANT DEATH SYNDROME Long QT syndrome 3	Criteria Provided Multiple Submitters No Conflicts	CA019062	rs_199473631	5 SubmittersRCV000058760 RCV000183112 RCV001787862 RCV004786351
NM_024426.6(WT1):c.1463G>A (p.Ser488Asn)	SNV Germline	Chr11:32389164	Conflicting classifications of pathogenicity	Inborn genetic diseases Frasier syndrome Drash syndrome Wilms tumor 1 11p partial monosomy syndrome	Criteria Provided Conflicting Classifications	CA219471729	rs_267602849	2 SubmittersRCV005305960 RCV000542066
NM_015272.5(RPGRIP1L):c.2230C>T (p.Arg744Ter)	SNV Germline	Chr16:53649038	Pathogenic/Likely pathogenic	Meckel-Gruber syndrome Joubert syndrome Joubert syndrome Joubert syndrome 7 Meckel syndrome, type 5 COACH syndrome 3	Criteria Provided Multiple Submitters No Conflicts	CA281341870	rs_267604575	3 SubmittersRCV001220267 RCV004017384 RCV005016358
NM_000179.3(MSH6):c.*85T>A	SNV Germline	Chr2:47806945	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Condition: not provided Lynch syndrome 5 Hereditary cancer Hereditary nonpolyposis colorectal neoplasms Endometrial carcinoma Lynch syndrome 5	Criteria Provided Conflicting Classifications	CA016549	rs_2020906	9 SubmittersRCV000202135 RCV002256038 RCV002274909 RCV000986755 RCV003492396 RCV002514327 RCV005364957
NM_000179.3(MSH6):c.-8C>T	SNV Germline	Chr2:47783226	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided not specified Lynch syndrome 5 Lynch syndrome MSH6-related disorder Endometrial carcinoma	Criteria Provided Conflicting Classifications	CA016627	rs_565211544	16 SubmittersRCV000131026 RCV000587581 RCV000212613 RCV000412463 RCV003997060 RCV004537271 RCV001354724
NM_000179.3(MSH6):c.1082G>A (p.Arg361His)	SNV Germline/somatic	Chr2:47799065	Conflicting classifications of pathogenicity	Lynch syndrome Condition: not provided Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Endometrial carcinoma MSH6-related disorder	Criteria Provided Conflicting Classifications	CA007978	rs_63750440	11 SubmittersRCV000074629 RCV000487116 RCV000567227 RCV000409637 RCV000701439 RCV003466931 RCV004739330
NM_000179.3(MSH6):c.1109T>C (p.Leu370Ser)	SNV Germline	Chr2:47799092	Pathogenic/Likely pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Hereditary nonpolyposis colon cancer Gastric cancer Lynch syndrome 5 MSH6-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA008059	rs_587779204	15 SubmittersRCV000074633 RCV000162441 RCV000518839 RCV000524101 RCV001201190 RCV003162468 RCV003450922 RCV004739331
NM_000179.3(MSH6):c.1133G>A (p.Arg378Lys)	SNV Germline	Chr2:47799116	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Carcinoma of colon Condition: not provided Hereditary nonpolyposis colorectal neoplasms Lynch syndrome Endometrial carcinoma	Criteria Provided Conflicting Classifications	CA008097	rs_587779205	8 SubmittersRCV000569385 RCV001290538 RCV001358106 RCV000479933 RCV000629837 RCV003997062 RCV004566915
NM_000179.3(MSH6):c.1144C>T (p.His382Tyr)	SNV Germline	Chr2:47799127	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms not specified Endometrial carcinoma Lynch syndrome	Criteria Provided Conflicting Classifications	CA008133	rs_587779207	11 SubmittersRCV000162700 RCV000213163 RCV000411429 RCV000627690 RCV001255541 RCV003460658 RCV003997063
NM_000179.3(MSH6):c.1193T>A (p.Val398Glu)	SNV Germline	Chr2:47799176	Pathogenic	Lynch syndrome	Reviewed By Expert Panel	CA008305	rs_587779208	1 SubmittersRCV000074641
NM_000179.3(MSH6):c.124C>T (p.Pro42Ser)	SNV Germline	Chr2:47783357	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Lynch syndrome 5 not specified Hereditary nonpolyposis colorectal neoplasms Carcinoma of colon Condition: not provided Breast and/or ovarian cancer MSH6-related disorder	Criteria Provided Conflicting Classifications	CA008371	rs_34014629	14 SubmittersRCV000131942 RCV000410444 RCV000422207 RCV000524105 RCV001354476 RCV001719808 RCV003149716 RCV004542739
NM_000179.3(MSH6):c.1273A>G (p.Ile425Val)	SNV Germline	Chr2:47799256	Conflicting classifications of pathogenicity	Hereditary nonpolyposis colorectal neoplasms Lynch syndrome Hereditary cancer-predisposing syndrome Lynch syndrome 5 Endometrial carcinoma Condition: not provided	Criteria Provided Conflicting Classifications	CA008413	rs_63749971	8 SubmittersRCV001063935 RCV003997064 RCV000570856 RCV005620899 RCV003466932 RCV004724790
NM_000179.3(MSH6):c.1299T>A (p.Tyr433Ter)	SNV Germline	Chr2:47799282	Pathogenic	Lynch syndrome Condition: not provided Lynch syndrome 5	Reviewed By Expert Panel	CA008461	rs_267608055	3 SubmittersRCV000074647 RCV003321496 RCV003450924
NM_000179.3(MSH6):c.1304T>C (p.Leu435Pro)	SNV Germline	Chr2:47799287	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Endometrial carcinoma Lynch syndrome 5	Criteria Provided Multiple Submitters No Conflicts	CA008468	rs_63751405	6 SubmittersRCV000128873 RCV000214282 RCV000791437 RCV003460660 RCV002288560
NM_000179.3(MSH6):c.1325T>C (p.Ile442Thr)	SNV Germline	Chr2:47799308	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA008493	rs_587779210	6 SubmittersRCV000568557 RCV000627712 RCV003997065 RCV000213558
NM_000179.3(MSH6):c.1346T>C (p.Leu449Pro)	SNV Germline	Chr2:47799329	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 1 Condition: not provided Endometrial carcinoma Inherited MMR deficiency (Lynch syndrome)	Reviewed By Expert Panel	CA008516	rs_63750741	13 SubmittersRCV000074651 RCV000491070 RCV000576688 RCV000627730 RCV001804803 RCV003137604 RCV003466933 RCV005252731
NM_000179.3(MSH6):c.1402C>T (p.Arg468Cys)	SNV Germline/somatic	Chr2:47799385	Conflicting classifications of pathogenicity	Lynch syndrome Hereditary cancer-predisposing syndrome not specified Condition: not provided Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 5 Mismatch repair cancer syndrome 1 Endometrial carcinoma MSH6-related disorder Lynch syndrome 5	Criteria Provided Conflicting Classifications	CA008576	rs_369456858	15 SubmittersRCV000074653 RCV000166488 RCV000222213 RCV000587141 RCV000524109 RCV001535649 RCV004566916 RCV004528269 RCV003450925
NM_000179.3(MSH6):c.1444C>T (p.Arg482Ter)	SNV Germline	Chr2:47799427	Pathogenic	Lynch syndrome Condition: not provided Lynch syndrome 5 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Carcinoma of colon Endometrial carcinoma Hereditary breast ovarian cancer syndrome	Reviewed By Expert Panel	CA008614	rs_63750909	21 SubmittersRCV000074656 RCV000215386 RCV000410127 RCV000491001 RCV000524108 RCV001355905 RCV003128135 RCV004794357
NM_000179.3(MSH6):c.1474A>G (p.Met492Val)	SNV Germline	Chr2:47799457	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Condition: not provided Lynch syndrome 5 Carcinoma of colon Lynch syndrome	Criteria Provided Conflicting Classifications	CA008673	rs_61754783	13 SubmittersRCV000212649 RCV000115374 RCV000524111 RCV000587662 RCV005420526 RCV001353728 RCV003997066
NM_000179.3(MSH6):c.1477G>T (p.Glu493Ter)	SNV Germline	Chr2:47799460	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA008679	rs_267608046	2 SubmittersRCV000074658 RCV005251057
NM_000179.3(MSH6):c.1483C>T (p.Arg495Ter)	SNV Germline/somatic	Chr2:47799466	Pathogenic	Lynch syndrome Condition: not provided Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Carcinoma of colon Endometrial carcinoma Lynch-like syndrome Hereditary nonpolyposis colon cancer Lynch syndrome 5	Reviewed By Expert Panel	CA008701	rs_587779212	25 SubmittersRCV000074659 RCV000202276 RCV000131420 RCV000524112 RCV001353858 RCV003460662 RCV001249984 RCV004700371 RCV003334381
NM_000179.3(MSH6):c.1565A>G (p.Gln522Arg)	SNV Germline	Chr2:47799548	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 5 not specified Endometrial carcinoma Hereditary breast ovarian cancer syndrome	Criteria Provided Conflicting Classifications	CA008795	rs_63751009	11 SubmittersRCV000219119 RCV000214996 RCV000556355 RCV000662803 RCV001194395 RCV003460663 RCV004786355
NM_000179.3(MSH6):c.1572C>G (p.Tyr524Ter)	SNV Germline	Chr2:47799555	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Condition: not provided Hereditary nonpolyposis colon cancer Lynch syndrome 5	Reviewed By Expert Panel	CA008805	rs_587779215	8 SubmittersRCV000074665 RCV000491949 RCV000798747 RCV002266921 RCV002469003 RCV003450926
NM_000179.3(MSH6):c.1696G>A (p.Gly566Arg)	SNV Germline	Chr2:47799679	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Lynch syndrome 5 Condition: not provided Hereditary nonpolyposis colorectal neoplasms not specified MSH6-related disorder	Criteria Provided Conflicting Classifications	CA009071	rs_63749973	11 SubmittersRCV000131251 RCV000411714 RCV000212651 RCV001080487 RCV001328467 RCV004542740
NM_000179.3(MSH6):c.1729C>T (p.Arg577Cys)	SNV Germline	Chr2:47799712	Conflicting classifications of pathogenicity	Condition: not provided Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 5 Hereditary cancer-predisposing syndrome Endometrial carcinoma Hereditary nonpolyposis colon cancer not specified Lynch syndrome	Criteria Provided Conflicting Classifications	CA009088	rs_542838372	18 SubmittersRCV000115381 RCV000524118 RCV000409690 RCV000491847 RCV003466935 RCV003993789 RCV003235029 RCV003997068
NM_000179.3(MSH6):c.1739C>T (p.Ser580Leu)	SNV Germline	Chr2:47799722	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Condition: not provided not specified Endometrial carcinoma Lynch syndrome 5 Lynch syndrome 5 Endometrial carcinoma Mismatch repair cancer syndrome 3 Lynch syndrome	Criteria Provided Conflicting Classifications	CA009108	rs_41295270	14 SubmittersRCV000131189 RCV000524119 RCV000485534 RCV001818236 RCV003466936 RCV004019093 RCV002498356 RCV005357440
NM_000179.3(MSH6):c.1754T>C (p.Leu585Pro)	SNV Germline/somatic	Chr2:47799737	Pathogenic/Likely pathogenic	Condition: not provided Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 5 MSH6-related disorder Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colon cancer Endometrial carcinoma	Criteria Provided Multiple Submitters No Conflicts	CA009121	rs_587779220	12 SubmittersRCV000219463 RCV000791380 RCV003450930 RCV004537273 RCV000074683 RCV000491054 RCV001290557 RCV003128136
NM_000179.3(MSH6):c.1835C>A (p.Ser612Ter)	SNV Germline	Chr2:47799818	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Condition: not provided	Reviewed By Expert Panel	CA009299	rs_63750564	5 SubmittersRCV000074690 RCV002408572 RCV003450933 RCV003593866 RCV004696678
NM_000179.3(MSH6):c.1857A>C (p.Glu619Asp)	SNV Germline	Chr2:47799840	Conflicting classifications of pathogenicity	Lynch syndrome 5 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Endometrial carcinoma Lynch syndrome Mismatch repair cancer syndrome 3	Criteria Provided Conflicting Classifications	CA009330	rs_63751121	10 SubmittersRCV005420529 RCV000132230 RCV000221704 RCV000524122 RCV003460665 RCV003997069 RCV005357442
NM_000179.3(MSH6):c.1932G>C (p.Arg644Ser)	SNV Germline	Chr2:47799915	Conflicting classifications of pathogenicity	Lynch syndrome Hereditary cancer-predisposing syndrome not specified Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Carcinoma of colon Condition: not provided MSH6-related disorder Hereditary cancer	Criteria Provided Conflicting Classifications	CA009475	rs_34938432	14 SubmittersRCV000074697 RCV000166227 RCV000219792 RCV000409155 RCV000524127 RCV001355116 RCV001703971 RCV004537274 RCV005234963
NM_000179.3(MSH6):c.2006T>C (p.Ile669Thr)	SNV Germline	Chr2:47799989	Conflicting classifications of pathogenicity	Lynch syndrome 5 Endometrial carcinoma Mismatch repair cancer syndrome 3 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Condition: not provided not specified Endometrial carcinoma Lynch syndrome Lynch syndrome 5	Criteria Provided Conflicting Classifications	CA009545	rs_555209664	13 SubmittersRCV005394300 RCV000130794 RCV001083193 RCV000679222 RCV000507463 RCV003460666 RCV003997070 RCV005420531
NM_000179.3(MSH6):c.2057G>A (p.Gly686Asp)	SNV Germline	Chr2:47800040	Likely pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 5 not specified Endometrial carcinoma Hereditary nonpolyposis colon cancer	Reviewed By Expert Panel	CA009620	rs_587779227	17 SubmittersRCV000074709 RCV000128865 RCV000212657 RCV000524130 RCV000576301 RCV000583928 RCV001353773 RCV001526863
NM_000179.3(MSH6):c.2061T>A (p.Cys687Ter)	SNV Germline	Chr2:47800044	Pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Condition: not provided Endometrial carcinoma Hereditary nonpolyposis colon cancer Lynch syndrome 5 MSH6-related disorder	Reviewed By Expert Panel	CA009627	rs_267608068	11 SubmittersRCV000074710 RCV000530716 RCV000162397 RCV000201965 RCV001353419 RCV002222379 RCV003450938 RCV004724791
NM_000179.3(MSH6):c.2080T>C (p.Cys694Arg)	SNV Germline	Chr2:47800063	Likely pathogenic	Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 5	Criteria Provided Multiple Submitters No Conflicts	CA009656	rs_587779228	3 SubmittersRCV001186406 RCV000822642 RCV003450940
NM_000179.3(MSH6):c.2092C>G (p.Gln698Glu)	SNV Germline	Chr2:47800075	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms not specified Endometrial carcinoma	Criteria Provided Conflicting Classifications	CA009674	rs_63750832	13 SubmittersRCV000130187 RCV000480300 RCV000662368 RCV000524131 RCV003320553 RCV003466939
NM_000179.3(MSH6):c.2105C>G (p.Ser702Ter)	SNV Germline	Chr2:47800088	Pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Lynch syndrome 5 Mismatch repair cancer syndrome 3 Endometrial carcinoma Lynch syndrome 5	Reviewed By Expert Panel	CA009686	rs_63751419	5 SubmittersRCV000074717 RCV000629877 RCV001014449 RCV003450941 RCV002490669
NM_000179.3(MSH6):c.2117T>C (p.Phe706Ser)	SNV Germline	Chr2:47800100	Likely pathogenic	Lynch syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Lynch syndrome 5	Reviewed By Expert Panel	CA009702	rs_587779231	8 SubmittersRCV000074718 RCV001530136 RCV001854277 RCV003584540 RCV003137606
NM_000179.3(MSH6):c.2127T>A (p.Tyr709Ter)	SNV Germline	Chr2:47800110	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Endometrial carcinoma Hereditary nonpolyposis colorectal neoplasms Condition: not provided Lynch syndrome 5	Reviewed By Expert Panel	CA009710	rs_587779232	6 SubmittersRCV000074719 RCV000130308 RCV003460669 RCV000690199 RCV003148645 RCV003450942
NM_000179.3(MSH6):c.2177T>A (p.Phe726Tyr)	SNV Germline	Chr2:47800160	Conflicting classifications of pathogenicity	Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Lynch syndrome 5 Condition: not provided Endometrial carcinoma Lynch syndrome	Criteria Provided Conflicting Classifications	CA009822	rs_574358605	12 SubmittersRCV000524133 RCV000568729 RCV000662512 RCV001582560 RCV003466941 RCV003997072
NM_000179.3(MSH6):c.2183A>C (p.Lys728Thr)	SNV Germline	Chr2:47800166	Conflicting classifications of pathogenicity	Hereditary nonpolyposis colorectal neoplasms not specified Condition: not provided Hereditary cancer-predisposing syndrome Lynch syndrome	Criteria Provided Conflicting Classifications	CA009828	rs_35552856	6 SubmittersRCV000688768 RCV000221222 RCV000657127 RCV000563245 RCV003997073
NM_000179.3(MSH6):c.2191C>T (p.Gln731Ter)	SNV Germline	Chr2:47800174	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 5	Reviewed By Expert Panel	CA009848	rs_63751442	4 SubmittersRCV000074725 RCV000490877 RCV001206112 RCV003450943
NM_000179.3(MSH6):c.2194C>T (p.Arg732Ter)	SNV Germline	Chr2:47800177	Pathogenic	Lynch syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Endometrial carcinoma Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colon cancer Lynch syndrome 5 MSH6-related disorder	Reviewed By Expert Panel	CA009856	rs_63751127	16 SubmittersRCV000074726 RCV000212661 RCV000524134 RCV003466942 RCV000132226 RCV002281906 RCV003450944 RCV004739332
NM_000179.3(MSH6):c.2282G>A (p.Arg761Lys)	SNV Germline	Chr2:47800265	Conflicting classifications of pathogenicity	Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Condition: not provided not specified Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA009957	rs_587779233	7 SubmittersRCV000410000 RCV001045519 RCV001284513 RCV002267827 RCV002444527
NM_000179.3(MSH6):c.2314C>T (p.Arg772Trp)	SNV Germline	Chr2:47800297	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Condition: not provided Lynch syndrome 5 Carcinoma of colon Endometrial carcinoma	Reviewed By Expert Panel	CA010016	rs_63750138	16 SubmittersRCV000074732 RCV000162422 RCV000524139 RCV000218399 RCV002467437 RCV001353694 RCV003466943
NM_000179.3(MSH6):c.2330G>A (p.Trp777Ter)	SNV Germline	Chr2:47800313	Pathogenic	Lynch syndrome	Reviewed By Expert Panel	CA010055	rs_587779234	1 SubmittersRCV000074736
NM_000179.3(MSH6):c.2392C>G (p.Leu798Val)	SNV Germline	Chr2:47800375	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome Inherited polyposis and early onset colorectal cancer - germline testing	Criteria Provided Conflicting Classifications	CA010176	rs_587779238	5 SubmittersRCV000572114 RCV000629860 RCV003997075 RCV005430482
NM_000179.3(MSH6):c.2408A>G (p.Asp803Gly)	SNV Germline	Chr2:47800391	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Colorectal cancer not specified Lynch syndrome 5 Condition: not provided Hereditary nonpolyposis colorectal neoplasms Malignant tumor of breast Lynch syndrome Endometrial carcinoma Lynch syndrome 5 Mismatch repair cancer syndrome 3 Endometrial carcinoma	Criteria Provided Conflicting Classifications	CA010206	rs_63751450	18 SubmittersRCV000130124 RCV000148651 RCV000212666 RCV000410826 RCV000586083 RCV000524143 RCV001356592 RCV003997077 RCV003466944 RCV005025118
NM_000179.3(MSH6):c.2503C>T (p.Gln835Ter)	SNV Germline	Chr2:47800486	Pathogenic	Condition: not provided Lynch syndrome 5 Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary nonpolyposis colon cancer	Reviewed By Expert Panel	CA010314	rs_63751321	6 SubmittersRCV000520652 RCV003450946 RCV000074750 RCV000218020 RCV001223542 RCV001731360
NM_000179.3(MSH6):c.2561A>T (p.Lys854Met)	SNV Germline	Chr2:47800544	Conflicting classifications of pathogenicity	not specified Colorectal cancer Hereditary cancer-predisposing syndrome Condition: not provided Endometrial carcinoma Mismatch repair cancer syndrome 1 Lynch syndrome 5 Lynch syndrome 1 Carcinoma of colon Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Breast and/or ovarian cancer MSH6-related disorder	Criteria Provided Conflicting Classifications	CA010423	rs_34374438	19 SubmittersRCV000121574 RCV000148652 RCV000129191 RCV000585210 RCV000764424 RCV001093694 RCV001353909 RCV000986723 RCV001083699 RCV003149719 RCV004528270
NM_000179.3(MSH6):c.2597A>C (p.Lys866Thr)	SNV Germline	Chr2:47800580	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 5 Condition: not provided Endometrial carcinoma Lynch syndrome MSH6-related disorder	Criteria Provided Conflicting Classifications	CA010469	rs_190075874	13 SubmittersRCV000222631 RCV000479488 RCV000524146 RCV000662498 RCV000759136 RCV003137607 RCV003997079 RCV004542741
NM_000179.3(MSH6):c.2633T>G (p.Val878Gly)	SNV Germline	Chr2:47800616	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms not specified Condition: not provided Lynch syndrome	Criteria Provided Conflicting Classifications	CA010648	rs_2020912	6 SubmittersRCV000584072 RCV000630141 RCV000587077 RCV001778700 RCV003997080
NM_000179.3(MSH6):c.2702G>A (p.Arg901His)	SNV Germline	Chr2:47800685	Conflicting classifications of pathogenicity	Hereditary nonpolyposis colorectal neoplasms Lynch syndrome Hereditary cancer-predisposing syndrome Condition: not provided Endometrial carcinoma	Criteria Provided Conflicting Classifications	CA010764	rs_63749889	8 SubmittersRCV000559913 RCV003997081 RCV000570122 RCV001561918 RCV003460671
NM_000179.3(MSH6):c.2714T>A (p.Leu905Ter)	SNV Germline	Chr2:47800697	Pathogenic	Lynch syndrome	Reviewed By Expert Panel	CA010781	rs_587779245	1 SubmittersRCV000074775
NM_000179.3(MSH6):c.2731C>T (p.Arg911Ter)	SNV Germline	Chr2:47800714	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Endometrial carcinoma Condition: not provided Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Carcinoma of colon Breast carcinoma Hereditary nonpolyposis colon cancer Gastric cancer Endometrial carcinoma Lynch syndrome 5 Mismatch repair cancer syndrome 3	Reviewed By Expert Panel	CA010815	rs_63751017	29 SubmittersRCV000074777 RCV000129807 RCV000148645 RCV000202017 RCV000411710 RCV000524149 RCV001353531 RCV001554337 RCV002271398 RCV003162471 RCV002477210
NM_000179.3(MSH6):c.2764C>T (p.Arg922Ter)	SNV Germline	Chr2:47800747	Pathogenic	Lynch syndrome Condition: not provided Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Carcinoma of colon Hereditary nonpolyposis colon cancer Gastric cancer Endometrial carcinoma	Reviewed By Expert Panel	CA010831	rs_587779246	15 SubmittersRCV000074779 RCV002267828 RCV000491845 RCV001262897 RCV001056241 RCV001357595 RCV002281907 RCV003162472 RCV003460672
NM_000179.3(MSH6):c.2815C>T (p.Gln939Ter)	SNV Germline	Chr2:47800798	Pathogenic	Hereditary cancer-predisposing syndrome Lynch syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms	Reviewed By Expert Panel	CA010943	rs_63750140	4 SubmittersRCV000491935 RCV000074783 RCV003450950 RCV005089501
NM_000179.3(MSH6):c.2906A>C (p.Tyr969Ser)	SNV Germline	Chr2:47800889	Conflicting classifications of pathogenicity	Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Condition: not provided Endometrial carcinoma Lynch syndrome 5 MSH6-related disorder Mismatch repair cancer syndrome 3 Endometrial carcinoma Lynch syndrome 5	Criteria Provided Conflicting Classifications	CA011072	rs_63749919	6 SubmittersRCV000552775 RCV002433573 RCV003477462 RCV003398659 RCV004528271 RCV005394301
NM_000179.3(MSH6):c.2927G>A (p.Arg976His)	SNV Germline	Chr2:47800910	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Hereditary nonpolyposis colorectal neoplasms Condition: not provided Lynch syndrome 5 Endometrial carcinoma Hereditary breast ovarian cancer syndrome	Criteria Provided Conflicting Classifications	CA011105	rs_63751113	10 SubmittersRCV000218618 RCV000455514 RCV000629775 RCV002273954 RCV004700372 RCV003460673 RCV005600635
NM_000179.3(MSH6):c.2931C>G (p.Tyr977Ter)	SNV Germline	Chr2:47800914	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 1 Condition: not provided Lynch syndrome 5 Endometrial carcinoma	Reviewed By Expert Panel	CA011115	rs_63750111	10 SubmittersRCV000074788 RCV000491868 RCV002514330 RCV001804805 RCV001008655 RCV003450952 RCV004566920
NM_000179.3(MSH6):c.2983G>T (p.Glu995Ter)	SNV Germline	Chr2:47800966	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Condition: not provided Lynch syndrome 1 Lynch syndrome 5 Mismatch repair cancer syndrome 3	Reviewed By Expert Panel	CA011274	rs_63750258	9 SubmittersRCV000074793 RCV000491673 RCV001062414 RCV001269505 RCV001804806 RCV003450954 RCV005364959
NM_000179.3(MSH6):c.3013C>T (p.Arg1005Ter)	SNV Germline	Chr2:47800996	Pathogenic	Lynch syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Lynch syndrome 5 Endometrial carcinoma Hereditary nonpolyposis colon cancer	Reviewed By Expert Panel	CA011340	rs_63750563	22 SubmittersRCV000074795 RCV000202164 RCV000808924 RCV000491215 RCV000624966 RCV003460674 RCV001263506
NM_000179.3(MSH6):c.3020G>A (p.Trp1007Ter)	SNV Germline	Chr2:47801003	Pathogenic	Mismatch repair cancer syndrome 3 Lynch syndrome Condition: not provided Lynch syndrome 5 Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA011367	rs_587779252	4 SubmittersRCV000009493 RCV000074796 RCV004696679 RCV000202503 RCV002433574
NM_000179.3(MSH6):c.3067G>T (p.Glu1023Ter)	SNV Germline	Chr2:47801050	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Condition: not provided Lynch syndrome 5	Reviewed By Expert Panel	CA011483	rs_267608059	8 SubmittersRCV000074801 RCV000491450 RCV000687014 RCV004595907 RCV003450956
NM_000179.3(MSH6):c.3103C>T (p.Arg1035Ter)	SNV Germline	Chr2:47801086	Pathogenic	Gastric cancer Lynch syndrome Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Hereditary nonpolyposis colon cancer Lynch syndrome 5 Lynch syndrome 5 Endometrial carcinoma Mismatch repair cancer syndrome 3 Endometrial carcinoma	Reviewed By Expert Panel	CA011558	rs_63749999	26 SubmittersRCV003162473 RCV000074803 RCV000223452 RCV000484829 RCV000524153 RCV001194362 RCV003450957 RCV002477211 RCV001355855
NM_000179.3(MSH6):c.3163G>A (p.Ala1055Thr)	SNV Germline	Chr2:47801146	Conflicting classifications of pathogenicity	Condition: not provided Lynch syndrome 5 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Mismatch repair cancer syndrome 1 Lynch syndrome 5 Endometrial carcinoma Endometrial carcinoma not specified	Criteria Provided Conflicting Classifications	CA011694	rs_587779254	10 SubmittersRCV000218375 RCV000409200 RCV000565213 RCV000627700 RCV000764427 RCV003460677 RCV003493433
NM_000179.3(MSH6):c.3172+1G>T	SNV Germline	Chr2:47801156	Likely pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Endometrial carcinoma Hereditary nonpolyposis colon cancer Condition: not provided Lynch syndrome 5	Reviewed By Expert Panel	CA011722	rs_587779255	8 SubmittersRCV000074809 RCV000565688 RCV000627710 RCV003460678 RCV001194394 RCV003114239 RCV003450959
NM_000179.3(MSH6):c.3202C>T (p.Arg1068Ter)	SNV Germline/somatic	Chr2:47803449	Pathogenic	Lynch syndrome Lynch syndrome 1 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 5 Mismatch repair cancer syndrome 1 Endometrial carcinoma Lynch syndrome 5 Endometrial carcinoma Carcinoma of colon Lynch-like syndrome Hereditary nonpolyposis colon cancer Gastric cancer MSH6-related disorder	Reviewed By Expert Panel	CA011916	rs_63749843	33 SubmittersRCV000074817 RCV000172816 RCV000160692 RCV000201960 RCV000524156 RCV000607176 RCV000763497 RCV001253564 RCV001353539 RCV001249973 RCV003389678 RCV003162474 RCV005229880
NM_000179.3(MSH6):c.3218C>G (p.Pro1073Arg)	SNV Germline	Chr2:47803465	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome Lynch syndrome 5	Criteria Provided Conflicting Classifications	CA012014	rs_587779257	6 SubmittersRCV000484501 RCV001181943 RCV001209408 RCV003997085 RCV005420536
NM_000179.3(MSH6):c.3226C>T (p.Arg1076Cys)	SNV Germline	Chr2:47803473	Likely pathogenic	Lynch syndrome 1 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 5 Hereditary nonpolyposis colon cancer Malignant tumor of breast Breast carcinoma Breast and/or ovarian cancer Inherited MMR deficiency (Lynch syndrome) Inherited prostate cancer Gastric cancer Endometrial carcinoma Lynch syndrome MSH6-related disorder	Reviewed By Expert Panel	CA012063	rs_63750617	34 SubmittersRCV000074823 RCV000162445 RCV000254700 RCV000524159 RCV000709742 RCV000780464 RCV001356266 RCV001564011 RCV003492400 RCV004808573 RCV004584185 RCV003162475 RCV003466947 RCV003997086 RCV004739334
NM_000179.3(MSH6):c.3245C>T (p.Pro1082Leu)	SNV Germline	Chr2:47803492	Conflicting classifications of pathogenicity	Lynch syndrome Hereditary cancer-predisposing syndrome not specified Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 1 Condition: not provided Lynch syndrome 5 Hereditary cancer Carcinoma of colon MSH6-related disorder	Criteria Provided Conflicting Classifications	CA012135	rs_191109849	19 SubmittersRCV000074824 RCV000115409 RCV000121583 RCV001085899 RCV001093655 RCV000656898 RCV002288561 RCV005234964 RCV001358430 RCV004528272
NM_000179.3(MSH6):c.3259C>A (p.Pro1087Thr)	SNV Germline	Chr2:47803506	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms MSH6-related disorder Mismatch repair cancer syndrome 3 Condition: not provided Lynch syndrome 5 Ovarian cancer	Criteria Provided Conflicting Classifications	CA012215	rs_63750998	11 SubmittersRCV000131160 RCV001083021 RCV004537277 RCV005357445 RCV000212679 RCV001137558 RCV003153343
NM_000179.3(MSH6):c.3259C>T (p.Pro1087Ser)	SNV Germline	Chr2:47803506	Conflicting classifications of pathogenicity	Ovarian cancer Hereditary cancer-predisposing syndrome not specified Lynch syndrome 5 Mismatch repair cancer syndrome 1 Endometrial carcinoma Condition: not provided Hereditary nonpolyposis colorectal neoplasms Breast carcinoma Lynch syndrome 5 Lynch syndrome MSH6-related disorder	Criteria Provided Conflicting Classifications	CA012243	rs_63750998	20 SubmittersRCV000148653 RCV000131245 RCV000212678 RCV000764429 RCV000514075 RCV001079820 RCV001262368 RCV003325179 RCV005364960 RCV004537278
NM_000179.3(MSH6):c.3260C>G (p.Pro1087Arg)	SNV Germline	Chr2:47803507	Conflicting classifications of pathogenicity	Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Condition: not provided Mismatch repair cancer syndrome 1 Lynch syndrome 5 Endometrial carcinoma Breast and/or ovarian cancer Lynch syndrome 5 not specified	Criteria Provided Conflicting Classifications	CA012273	rs_63750753	15 SubmittersRCV000074829 RCV000160725 RCV000524164 RCV000586012 RCV000764430 RCV003149721 RCV004589547 RCV004799777
NM_000179.3(MSH6):c.3284G>A (p.Arg1095His)	SNV Germline	Chr2:47803531	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms not specified Condition: not provided Lynch syndrome	Criteria Provided Conflicting Classifications	CA012443	rs_63750253	13 SubmittersRCV000164048 RCV000412287 RCV000524168 RCV000433110 RCV000985842 RCV003997087
NM_000179.3(MSH6):c.3299C>T (p.Thr1100Met)	SNV Germline	Chr2:47803546	Conflicting classifications of pathogenicity	Lynch syndrome Hereditary cancer-predisposing syndrome not specified Hereditary nonpolyposis colorectal neoplasms Endometrial carcinoma Mismatch repair cancer syndrome 1 Lynch syndrome 5 Condition: not provided Malignant tumor of breast MSH6-related disorder Lynch syndrome 5 Endometrial carcinoma	Criteria Provided Conflicting Classifications	CA012473	rs_63750442	18 SubmittersRCV000074836 RCV000218926 RCV000223174 RCV000524169 RCV000764431 RCV000587747 RCV001358521 RCV004542742 RCV004019095 RCV003460680
NM_000179.3(MSH6):c.3355G>T (p.Glu1119Ter)	SNV Germline	Chr2:47803602	Pathogenic	Lynch syndrome	Reviewed By Expert Panel	CA012669	rs_267608084	1 SubmittersRCV000074842
NM_000179.3(MSH6):c.3367G>T (p.Glu1123Ter)	SNV Germline	Chr2:47803614	Pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 5	Reviewed By Expert Panel	CA012699	rs_267608086	3 SubmittersRCV000074843 RCV001854282 RCV003450964
NM_000179.3(MSH6):c.3383A>G (p.Tyr1128Cys)	SNV Germline	Chr2:47803630	Conflicting classifications of pathogenicity	Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Condition: not provided Endometrial carcinoma Lynch syndrome Endometrial carcinoma Lynch syndrome 5 Mismatch repair cancer syndrome 3	Criteria Provided Conflicting Classifications	CA012724	rs_587779261	7 SubmittersRCV000524174 RCV000573399 RCV001800369 RCV003460682 RCV003997088 RCV005031553
NM_000179.3(MSH6):c.3415G>A (p.Gly1139Ser)	SNV Germline	Chr2:47803662	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Lynch syndrome 5 Condition: not provided Hereditary nonpolyposis colorectal neoplasms	Criteria Provided Conflicting Classifications	CA012775	rs_63751063	4 SubmittersRCV002452190 RCV003454113 RCV005227588 RCV005096266
NM_000179.3(MSH6):c.3425C>T (p.Thr1142Met)	SNV Germline	Chr2:47803672	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Condition: not provided Malignant tumor of breast Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 5 Lynch syndrome Endometrial carcinoma	Criteria Provided Conflicting Classifications	CA012799	rs_267608089	15 SubmittersRCV000115415 RCV000212683 RCV000656899 RCV001357449 RCV000524175 RCV002288562 RCV003997089 RCV003460683
NM_000179.3(MSH6):c.3436C>T (p.Gln1146Ter)	SNV Germline	Chr2:47803683	Pathogenic	Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 5 Lynch syndrome Condition: not provided	Reviewed By Expert Panel	CA012815	rs_63750356	5 SubmittersRCV000561009 RCV000629768 RCV003450966 RCV000074849 RCV000657654
NM_000179.3(MSH6):c.3438+1G>A	SNV Germline	Chr2:47803686	Likely pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Lynch syndrome 5	Reviewed By Expert Panel	CA012865	rs_267608096	3 SubmittersRCV000074854 RCV002453381 RCV003450967
NM_000179.3(MSH6):c.3439-1G>T	SNV Germline	Chr2:47804909	Likely pathogenic	Lynch syndrome Condition: not provided Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 1 Endometrial carcinoma Hereditary nonpolyposis colon cancer Lynch syndrome 5 Endometrial carcinoma Mismatch repair cancer syndrome 3 Lynch syndrome 5 Inherited MMR deficiency (Lynch syndrome)	Reviewed By Expert Panel	CA012908	rs_587779263	16 SubmittersRCV000074858 RCV000215652 RCV000491481 RCV000629776 RCV002272051 RCV003460684 RCV003483460 RCV002483121 RCV003450968 RCV004808574
NM_000179.3(MSH6):c.3439-2A>G	SNV Germline	Chr2:47804908	Likely pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 5 Endometrial carcinoma Carcinoma of colon Hereditary nonpolyposis colon cancer Breast and/or ovarian cancer MSH6-related disorder	Reviewed By Expert Panel	CA012917	rs_267608098	19 SubmittersRCV000074859 RCV000130487 RCV000202159 RCV000524176 RCV000576575 RCV001292865 RCV001353640 RCV001526853 RCV001798254 RCV004739335
NM_000179.3(MSH6):c.3469G>A (p.Gly1157Ser)	SNV Germline	Chr2:47804940	Likely pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided not specified Lynch syndrome 5 Lynch syndrome 4 Inherited MMR deficiency (Lynch syndrome) Hereditary nonpolyposis colorectal neoplasms	Criteria Provided Multiple Submitters No Conflicts	CA012971	rs_587779264	7 SubmittersRCV000131534 RCV002510780 RCV000202300 RCV003450969 RCV004555853 RCV004584187 RCV002513797
NM_000179.3(MSH6):c.3487G>T (p.Glu1163Ter)	SNV Germline	Chr2:47804958	Pathogenic	Lynch syndrome Condition: not provided Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Endometrial carcinoma Lynch syndrome 5 Hereditary nonpolyposis colon cancer	Reviewed By Expert Panel	CA013109	rs_587779267	11 SubmittersRCV000074867 RCV000115417 RCV000491292 RCV000791426 RCV003466948 RCV003450970 RCV005406804
NM_000179.3(MSH6):c.3513T>C (p.Asp1171=)	SNV Germline	Chr2:47804984	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided not specified Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome MSH6-related disorder Lynch syndrome 5 Mismatch repair cancer syndrome 3 Endometrial carcinoma	Criteria Provided Conflicting Classifications	CA013188	rs_63749834	14 SubmittersRCV000163879 RCV000524179 RCV000433073 RCV000662442 RCV001081095 RCV003997091 RCV004542743 RCV005394304
NM_000179.3(MSH6):c.3543C>G (p.Asp1181Glu)	SNV Germline	Chr2:47805014	Conflicting classifications of pathogenicity	Condition: not provided Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Lynch syndrome 5 Lynch syndrome not specified Endometrial carcinoma Lynch syndrome 5 Mismatch repair cancer syndrome 3	Criteria Provided Conflicting Classifications	CA013331	rs_267608100	10 SubmittersRCV000486053 RCV000556518 RCV000565574 RCV000662821 RCV003997092 RCV002267830 RCV005394305
NM_000179.3(MSH6):c.3563G>A (p.Ser1188Asn)	SNV Germline	Chr2:47805624	Conflicting classifications of pathogenicity	Condition: not provided Endometrial carcinoma Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 5	Criteria Provided Conflicting Classifications	CA013469	rs_587779272	9 SubmittersRCV000478227 RCV004566921 RCV004804043 RCV000582224 RCV000685790 RCV003450973
NM_000179.3(MSH6):c.3577G>A (p.Glu1193Lys)	SNV Germline	Chr2:47805638	Pathogenic/Likely pathogenic	Endometrial carcinoma Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Hereditary nonpolyposis colon cancer Lynch syndrome Lynch syndrome 5	Criteria Provided Multiple Submitters No Conflicts	CA013478	rs_63751328	8 SubmittersRCV003460687 RCV000166108 RCV000679239 RCV001302789 RCV003230394 RCV003997093 RCV003450974
NM_000179.3(MSH6):c.3605T>C (p.Met1202Thr)	SNV Germline	Chr2:47805666	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 5 Mismatch repair cancer syndrome 1 Lynch syndrome 5 Endometrial carcinoma not specified Lynch syndrome	Criteria Provided Conflicting Classifications	CA013519	rs_587779273	10 SubmittersRCV000129370 RCV000212685 RCV000524181 RCV000662842 RCV000764434 RCV003987347 RCV003997094
NM_000179.3(MSH6):c.3647-1G>A	SNV Germline	Chr2:47806203	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 5 Condition: not provided	Reviewed By Expert Panel	CA013645	rs_587779279	11 SubmittersRCV000074902 RCV000491917 RCV000791366 RCV002467438 RCV001781398
NM_000179.3(MSH6):c.3647-2A>C	SNV Germline	Chr2:47806202	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Lynch syndrome 5 Condition: not provided Hereditary nonpolyposis colorectal neoplasms	Reviewed By Expert Panel	CA013656	rs_267608111	7 SubmittersRCV000074903 RCV002345375 RCV003335091 RCV001531316 RCV001854283
NM_000179.3(MSH6):c.3656C>T (p.Thr1219Ile)	SNV Germline/somatic	Chr2:47806213	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Neoplasm Lynch syndrome 5	Criteria Provided Conflicting Classifications	CA013759	rs_63750949	5 SubmittersRCV000572978 RCV001222841 RCV004668770 RCV003450976
NM_000179.3(MSH6):c.3674C>T (p.Thr1225Met)	SNV Germline	Chr2:47806231	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms not specified Malignant tumor of breast Ovarian cancer Endometrial carcinoma Lynch syndrome	Criteria Provided Conflicting Classifications	CA013768	rs_63750370	16 SubmittersRCV000160696 RCV000212686 RCV000410774 RCV000524182 RCV000780485 RCV001354592 RCV003153344 RCV003460688 RCV003997095
NM_000179.3(MSH6):c.3679A>T (p.Ile1227Leu)	SNV Germline	Chr2:47806236	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Endometrial carcinoma	Criteria Provided Conflicting Classifications	CA013789	rs_587779282	9 SubmittersRCV000574037 RCV000217680 RCV000625244 RCV001854284 RCV004566922
NM_000179.3(MSH6):c.3724C>A (p.Arg1242Ser)	SNV Germline	Chr2:47806281	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Condition: not provided Endometrial carcinoma Lynch syndrome	Criteria Provided Conflicting Classifications	CA014030	rs_587779285	7 SubmittersRCV000216969 RCV000684809 RCV000767045 RCV003460689 RCV004017385
NM_000179.3(MSH6):c.3762A>T (p.Glu1254Asp)	SNV Germline	Chr2:47806319	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Condition: not provided MSH6-related disorder Lynch syndrome	Criteria Provided Conflicting Classifications	CA014214	rs_375459388	13 SubmittersRCV000160699 RCV000212689 RCV000408995 RCV000524187 RCV000587284 RCV004537280 RCV003997096
NM_000179.3(MSH6):c.3768T>G (p.Tyr1256Ter)	SNV Germline	Chr2:47806325	Pathogenic	Lynch syndrome Condition: not provided Lynch syndrome 5 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Endometrial carcinoma Lynch syndrome 5 Mismatch repair cancer syndrome 1	Reviewed By Expert Panel	CA014232	rs_63751058	13 SubmittersRCV000074926 RCV000202271 RCV003450979 RCV000491038 RCV000546623 RCV003460691 RCV003483461
NM_000179.3(MSH6):c.3772C>T (p.Gln1258Ter)	SNV Germline	Chr2:47806329	Pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Condition: not provided	Reviewed By Expert Panel	CA014244	rs_63750554	3 SubmittersRCV000074927 RCV003593872 RCV004696680
NM_000179.3(MSH6):c.3787C>T (p.Arg1263Cys)	SNV Germline	Chr2:47806344	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 5 Condition: not provided Endometrial carcinoma not specified Lynch syndrome	Criteria Provided Conflicting Classifications	CA014275	rs_367912290	12 SubmittersRCV000164843 RCV000559935 RCV000659897 RCV000485038 RCV003460692 RCV003235031 RCV004804044
NM_000179.3(MSH6):c.3838C>T (p.Gln1280Ter)	SNV Germline	Chr2:47806488	Pathogenic	Lynch syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Condition: not provided Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA014495	rs_63750139	8 SubmittersRCV000074940 RCV000603416 RCV001229855 RCV001723643 RCV002362701
NM_000179.3(MSH6):c.383G>T (p.Arg128Leu)	SNV Germline	Chr2:47791049	Conflicting classifications of pathogenicity	Lynch syndrome 5 Lynch syndrome Hereditary cancer-predisposing syndrome Mismatch repair cancer syndrome 1 Lynch syndrome 5 Endometrial carcinoma Condition: not provided Hereditary nonpolyposis colorectal neoplasms not specified Endometrial carcinoma	Criteria Provided Conflicting Classifications	CA014504	rs_63750143	12 SubmittersRCV005600636 RCV000074941 RCV000165162 RCV000765680 RCV000485426 RCV000545223 RCV002265595 RCV004566923
NM_000179.3(MSH6):c.3851C>T (p.Thr1284Met)	SNV Germline	Chr2:47806501	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Condition: not provided Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 5 Endometrial carcinoma Carcinoma of colon Breast and/or ovarian cancer	Criteria Provided Conflicting Classifications	CA014580	rs_63750836	15 SubmittersRCV000131709 RCV000454725 RCV000759868 RCV001082428 RCV000662523 RCV003448259 RCV001357732 RCV003492403
NM_000179.3(MSH6):c.3930G>C (p.Glu1310Asp)	SNV Germline	Chr2:47806580	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Condition: not provided Lynch syndrome 5 not specified Lynch syndrome Endometrial carcinoma	Criteria Provided Conflicting Classifications	CA014716	rs_267608129	9 SubmittersRCV000129017 RCV000524194 RCV001548132 RCV005600637 RCV001804807 RCV003997097 RCV004566924
NM_000179.3(MSH6):c.3961A>G (p.Arg1321Gly)	SNV Germline	Chr2:47806611	Conflicting classifications of pathogenicity	Lynch syndrome Hereditary cancer-predisposing syndrome Lynch syndrome 5 Colorectal cancer, early onset Condition: not provided not specified Hereditary nonpolyposis colorectal neoplasms MSH6-related disorder Malignant tumor of breast	Criteria Provided Conflicting Classifications	CA014874	rs_41295278	22 SubmittersRCV000074958 RCV000115425 RCV000410058 RCV000148646 RCV000590664 RCV000202255 RCV001082577 RCV004528273 RCV001355442
NM_000179.3(MSH6):c.4001+2T>C	SNV Germline	Chr2:47806653	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Condition: not provided Lynch syndrome 5	Reviewed By Expert Panel	CA015138	rs_267608131	7 SubmittersRCV000074969 RCV000491060 RCV000812440 RCV002267832 RCV003450986
NM_000179.3(MSH6):c.4001G>A (p.Arg1334Gln)	SNV Germline	Chr2:47806651	Pathogenic	Lynch syndrome Condition: not provided Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 5 Endometrial carcinoma Hereditary nonpolyposis colon cancer	Reviewed By Expert Panel	CA015202	rs_267608122	20 SubmittersRCV000074974 RCV000160701 RCV000491705 RCV000542786 RCV000576708 RCV001355904 RCV004799778
NM_000179.3(MSH6):c.4002-10T>A	SNV Germline	Chr2:47806769	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Condition: not provided See cases Breast and/or ovarian cancer MSH6-related disorder Carcinoma of colon	Criteria Provided Conflicting Classifications	CA015230	rs_545466048	19 SubmittersRCV000160702 RCV000771079 RCV000986753 RCV001081736 RCV000590285 RCV002287361 RCV003149725 RCV004542745 RCV001357666
NM_000179.3(MSH6):c.426G>A (p.Trp142Ter)	SNV Germline	Chr2:47791092	Pathogenic	Lynch syndrome Lynch syndrome 1 Hereditary cancer-predisposing syndrome Lynch syndrome 5 Condition: not provided Endometrial carcinoma	Reviewed By Expert Panel	CA015491	rs_63750342	6 SubmittersRCV000074987 RCV000144625 RCV002326786 RCV003450987 RCV003311675 RCV003460698
NM_000179.3(MSH6):c.457+2T>A	SNV Germline	Chr2:47791125	Pathogenic	Lynch syndrome	Reviewed By Expert Panel	CA015582	rs_267608036	1 SubmittersRCV000074993
NM_000179.3(MSH6):c.458-17A>G	SNV Germline	Chr2:47795877	Conflicting classifications of pathogenicity	Lynch syndrome 5 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms	Criteria Provided Conflicting Classifications	CA015619	rs_554847828	5 SubmittersRCV000662516 RCV000774587 RCV001854287
NM_000179.3(MSH6):c.458-1G>A	SNV Germline	Chr2:47795893	Likely pathogenic	Lynch syndrome 5 Lynch syndrome Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA015627	rs_267608035	4 SubmittersRCV003450988 RCV000075000 RCV001190339
NM_000179.3(MSH6):c.467C>G (p.Ser156Ter)	SNV Germline	Chr2:47795903	Pathogenic	Lynch syndrome Condition: not provided Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 5 Lynch syndrome 1 Carcinoma of colon MSH6-related disorder Endometrial carcinoma Hereditary nonpolyposis colon cancer	Reviewed By Expert Panel	CA015662	rs_63749873	20 SubmittersRCV000075003 RCV000201956 RCV000490955 RCV000524207 RCV000576312 RCV000172813 RCV001357340 RCV004739337 RCV003466952 RCV004782043
NM_000179.3(MSH6):c.599C>A (p.Ser200Ter)	SNV Germline	Chr2:47796035	Pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Condition: not provided	Reviewed By Expert Panel	CA015935	rs_63751077	3 SubmittersRCV000075008 RCV005089502 RCV004814996
NM_000179.3(MSH6):c.642C>A (p.Tyr214Ter)	SNV Germline	Chr2:47798625	Pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA016077	rs_1800937	4 SubmittersRCV000075015 RCV001071476 RCV003162479
NM_000179.3(MSH6):c.642C>G (p.Tyr214Ter)	SNV Germline	Chr2:47798625	Pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Lynch syndrome 5 Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Mismatch repair cancer syndrome 3 Endometrial carcinoma Lynch syndrome 5	Reviewed By Expert Panel	CA016086	rs_1800937	9 SubmittersRCV000485263 RCV001025256 RCV003450990 RCV000075016 RCV000703480 RCV002477214
NM_000179.3(MSH6):c.652A>T (p.Lys218Ter)	SNV Germline	Chr2:47798635	Pathogenic	Lynch syndrome Malignant tumor of breast Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA016159	rs_587779315	4 SubmittersRCV000075019 RCV001355616 RCV001386352 RCV002362702
NM_000179.3(MSH6):c.663A>C (p.Glu221Asp)	SNV Germline	Chr2:47798646	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Hereditary nonpolyposis colorectal neoplasms Abnormality of the ovary Breast and/or ovarian cancer Condition: not provided Lynch syndrome 5 Carcinoma of colon Hereditary cancer	Criteria Provided Conflicting Classifications	CA016186	rs_41557217	26 SubmittersRCV000115440 RCV000121575 RCV001083709 RCV001564013 RCV001798257 RCV000588752 RCV000659887 RCV001353587 RCV003492405
NM_000179.3(MSH6):c.694C>T (p.Gln232Ter)	SNV Germline	Chr2:47798677	Pathogenic	Lynch syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 5 Endometrial carcinoma Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA016261	rs_587779318	11 SubmittersRCV000075025 RCV000412800 RCV001383732 RCV003450991 RCV003460700 RCV002362703
NM_000179.3(MSH6):c.706C>T (p.Gln236Ter)	SNV Germline	Chr2:47798689	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA016297	rs_63750996	2 SubmittersRCV000075026 RCV002362704
NM_000179.3(MSH6):c.718C>T (p.Arg240Ter)	SNV Germline	Chr2:47798701	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Lynch syndrome 1 Carcinoma of colon Hereditary nonpolyposis colorectal neoplasms Condition: not provided Endometrial carcinoma Inherited MMR deficiency (Lynch syndrome) Lynch syndrome 5	Reviewed By Expert Panel	CA016325	rs_63750019	18 SubmittersRCV000075028 RCV000220361 RCV001310159 RCV001358367 RCV000704209 RCV000657653 RCV003460701 RCV005237500 RCV002288564
NM_000179.3(MSH6):c.730C>T (p.Gln244Ter)	SNV Germline	Chr2:47798713	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Condition: not provided	Reviewed By Expert Panel	CA016353	rs_267608066	6 SubmittersRCV000075029 RCV002381377 RCV000984323 RCV002513799 RCV003144122
NM_000179.3(MSH6):c.73G>T (p.Ala25Ser)	SNV Germline	Chr2:47783306	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Lynch syndrome not specified Condition: not provided Endometrial carcinoma Mismatch repair cancer syndrome 1 Lynch syndrome 5 Hereditary breast ovarian cancer syndrome Hereditary nonpolyposis colorectal neoplasms Endometrial carcinoma Lynch syndrome 5 Mismatch repair cancer syndrome 3 MSH6-related disorder Lynch syndrome 5	Criteria Provided Conflicting Classifications	CA016371	rs_267608026	20 SubmittersRCV000115442 RCV000075031 RCV000417385 RCV000524214 RCV000765674 RCV003482130 RCV001082180 RCV005394306 RCV004528274 RCV005420539
NM_000179.3(MSH6):c.742C>T (p.Arg248Ter)	SNV Germline	Chr2:47798725	Pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary nonpolyposis colon cancer Endometrial carcinoma Lynch syndrome 5	Reviewed By Expert Panel	CA016391	rs_63749980	15 SubmittersRCV000486750 RCV000490932 RCV000075032 RCV000524215 RCV001193103 RCV003460702 RCV002288565
NM_000179.3(MSH6):c.751A>G (p.Ile251Val)	SNV Germline	Chr2:47798734	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 5 Endometrial carcinoma Lynch syndrome	Criteria Provided Conflicting Classifications	CA016421	rs_554884560	8 SubmittersRCV000215096 RCV000220612 RCV000630227 RCV000662409 RCV003460703 RCV003997102
NM_000179.3(MSH6):c.753A>G (p.Ile251Met)	SNV Germline	Chr2:47798736	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Condition: not provided Lynch syndrome 5 Lynch syndrome	Criteria Provided Conflicting Classifications	CA016429	rs_587779321	7 SubmittersRCV000506023 RCV001026537 RCV000803732 RCV004767059 RCV005357450 RCV003997103
NM_000179.3(MSH6):c.755C>G (p.Ser252Ter)	SNV Germline	Chr2:47798738	Pathogenic	Lynch syndrome Endometrial carcinoma Lynch syndrome 5	Reviewed By Expert Panel	CA016437	rs_267608048	3 SubmittersRCV000075035 RCV001354709 RCV003450992
NM_000179.3(MSH6):c.806C>G (p.Thr269Ser)	SNV Germline	Chr2:47798789	Conflicting classifications of pathogenicity	Condition: not provided Mismatch repair cancer syndrome 3 Endometrial carcinoma Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome not specified Lynch syndrome	Criteria Provided Conflicting Classifications	CA016470	rs_587779322	8 SubmittersRCV000759873 RCV002504983 RCV000684794 RCV000568144 RCV002267836 RCV003997104
NM_000179.3(MSH6):c.814G>T (p.Glu272Ter)	SNV Germline	Chr2:47798797	Pathogenic	Lynch syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms	Reviewed By Expert Panel	CA016485	rs_63750552	3 SubmittersRCV000075038 RCV003450994 RCV005089503
NM_000179.3(MSH6):c.854G>T (p.Ser285Ile)	SNV Germline	Chr2:47798837	Conflicting classifications of pathogenicity	Colorectal cancer Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms not specified Lynch syndrome Endometrial carcinoma Endometrial carcinoma Lynch syndrome 5 Mismatch repair cancer syndrome 3	Criteria Provided Conflicting Classifications	CA016543	rs_63750878	11 SubmittersRCV000148648 RCV000160657 RCV000212635 RCV000556949 RCV001174593 RCV003997105 RCV004566926 RCV005025120
NM_000179.3(MSH6):c.884A>G (p.Lys295Arg)	SNV Germline	Chr2:47798867	Conflicting classifications of pathogenicity	Lynch syndrome Hereditary cancer-predisposing syndrome Lynch syndrome 5 Condition: not provided Hereditary nonpolyposis colorectal neoplasms not specified Hereditary cancer	Criteria Provided Conflicting Classifications	CA016588	rs_267608051	18 SubmittersRCV000075042 RCV000115445 RCV000410872 RCV000512927 RCV000524217 RCV000212636 RCV004700373
NM_000179.3(MSH6):c.892C>T (p.Arg298Ter)	SNV Germline	Chr2:47798875	Pathogenic	Lynch syndrome Condition: not provided Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Endometrial carcinoma Lynch syndrome 5 Endometrial carcinoma Lynch syndrome 5 Mismatch repair cancer syndrome 3	Reviewed By Expert Panel	CA016604	rs_146816935	15 SubmittersRCV000075043 RCV000149892 RCV000130865 RCV000551832 RCV003466953 RCV003450996 RCV005394307
NM_000249.4(MLH1):c.1013A>G (p.Asn338Ser)	SNV Germline	Chr3:37020438	Conflicting classifications of pathogenicity	Colorectal cancer, non-polyposis Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Condition: not provided not specified Colorectal cancer, hereditary nonpolyposis, type 2 Mismatch repair cancer syndrome 1 Muir-Torré syndrome Hereditary cancer Malignant tumor of breast Lynch syndrome Hereditary breast ovarian cancer syndrome MLH1-related disorder Colorectal cancer, hereditary nonpolyposis, type 2	Criteria Provided Conflicting Classifications	CA004051	rs_63751467	20 SubmittersRCV000148621 RCV000128912 RCV000524219 RCV000656860 RCV000220791 RCV000764485 RCV004700374 RCV001356843 RCV003997106 RCV003483462 RCV004748551 RCV005246613
NM_000249.4(MLH1):c.1037A>G (p.Gln346Arg)	SNV Germline	Chr3:37020462	Pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms	Reviewed By Expert Panel	CA004077	rs_63751609	2 SubmittersRCV000075079 RCV003593873
NM_000249.4(MLH1):c.1038+1G>C	SNV Germline/somatic	Chr3:37020464	Likely pathogenic	Lynch syndrome Lynch-like syndrome Lynch syndrome 1 Colorectal cancer, hereditary nonpolyposis, type 2 Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colorectal neoplasms	Reviewed By Expert Panel	CA004088	rs_267607816	6 SubmittersRCV000075082 RCV001249908 RCV001093692 RCV003450998 RCV005357454 RCV002514334
NM_000249.4(MLH1):c.1038G>A (p.Gln346=)	SNV Germline	Chr3:37020463	Pathogenic	Lynch syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA004100	rs_63751715	10 SubmittersRCV000075085 RCV000506818 RCV000629976 RCV000214854 RCV003450999
NM_000249.4(MLH1):c.1038G>C (p.Gln346His)	SNV Germline	Chr3:37020463	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA004104	rs_63751715	3 SubmittersRCV000075086 RCV002390211 RCV002243695
NM_000249.4(MLH1):c.1038G>T (p.Gln346His)	SNV Germline	Chr3:37020463	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA004107	rs_63751715	2 SubmittersRCV000075087 RCV002390212
NM_000249.4(MLH1):c.1039-1G>A	SNV Germline	Chr3:37025636	Pathogenic	Lynch syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA004114	rs_267607819	10 SubmittersRCV000075088 RCV000153506 RCV001201713 RCV003451000 RCV002390213
NM_000249.4(MLH1):c.1039-2A>G	SNV Germline/somatic	Chr3:37025635	Likely pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Condition: not provided Colorectal cancer, hereditary nonpolyposis, type 2 MLH1-related disorder Familial cancer of breast	Reviewed By Expert Panel	CA004118	rs_267607815	7 SubmittersRCV000075090 RCV002514335 RCV003441739 RCV003137609 RCV003390766 RCV005357455
NM_000249.4(MLH1):c.1039-2A>T	SNV Germline	Chr3:37025635	Likely pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA004123	rs_267607815	2 SubmittersRCV000075091 RCV003162481
NM_000249.4(MLH1):c.104T>G (p.Met35Arg)	SNV Germline	Chr3:36993651	Pathogenic	Condition: not provided Lynch syndrome Hereditary cancer-predisposing syndrome Carcinoma of colon Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA004200	rs_63749906	5 SubmittersRCV001269567 RCV000075100 RCV002399429 RCV001353714 RCV003451002
NM_000249.4(MLH1):c.109G>A (p.Glu37Lys)	SNV Germline/somatic	Chr3:36993656	Pathogenic/Likely pathogenic	Lynch syndrome Carcinoma of colon Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2	Criteria Provided Multiple Submitters No Conflicts	CA004328	rs_63751012	4 SubmittersRCV000075110 RCV001357016 RCV000693918 RCV003451004
NM_000249.4(MLH1):c.109G>T (p.Glu37Ter)	SNV Germline	Chr3:36993656	Pathogenic	Lynch syndrome	Reviewed By Expert Panel	CA004335	rs_63751012	1 SubmittersRCV000075111
NM_000249.4(MLH1):c.112A>C (p.Asn38His)	SNV Germline	Chr3:36993659	Pathogenic	Hereditary cancer-predisposing syndrome Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 1 Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA004399	rs_63750580	5 SubmittersRCV000129232 RCV000075115 RCV001034681 RCV001804811 RCV003451006
NM_000249.4(MLH1):c.113A>G (p.Asn38Ser)	SNV Germline	Chr3:36993660	Pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA004445	rs_587778888	3 SubmittersRCV000075118 RCV000688444 RCV004943740
NM_000249.4(MLH1):c.114C>G (p.Asn38Lys)	SNV Germline	Chr3:36993661	Pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA004476	rs_267607706	5 SubmittersRCV000075121 RCV001206557 RCV001176886 RCV003451007
NM_000249.4(MLH1):c.1153C>T (p.Arg385Cys)	SNV Germline	Chr3:37025751	Conflicting classifications of pathogenicity	Lynch syndrome not specified Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary breast ovarian cancer syndrome Condition: not provided Colorectal cancer, hereditary nonpolyposis, type 2 Mismatch repair cancer syndrome 1 Muir-Torré syndrome Breast and/or ovarian cancer Hereditary cancer Childhood neoplasm	Criteria Provided Conflicting Classifications	CA004503	rs_63750760	16 SubmittersRCV000075124 RCV000202088 RCV000217569 RCV000524225 RCV000490290 RCV001030628 RCV000656862 RCV000764489 RCV003149731 RCV003492407 RCV005621869
NM_000249.4(MLH1):c.116+1G>A	SNV Germline	Chr3:36993664	Likely pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Mismatch repair cancer syndrome 1 Colorectal cancer, hereditary nonpolyposis, type 2 Condition: not provided Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA004527	rs_267607709	8 SubmittersRCV000075127 RCV002514337 RCV001294059 RCV000709737 RCV001284001 RCV002354257
NM_000249.4(MLH1):c.116+5G>C	SNV Germline	Chr3:36993668	Pathogenic	Condition: not provided Lynch syndrome Carcinoma of colon Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA004556	rs_267607710	7 SubmittersRCV000413453 RCV000075129 RCV001358274 RCV000776333 RCV000694368 RCV003451008
NM_000249.4(MLH1):c.1165C>T (p.Arg389Trp)	SNV Germline	Chr3:37025763	Conflicting classifications of pathogenicity	Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms not specified Condition: not provided Colorectal cancer, hereditary nonpolyposis, type 2	Criteria Provided Conflicting Classifications	CA004549	rs_61751644	10 SubmittersRCV000075132 RCV000165994 RCV000627719 RCV000582826 RCV001563149 RCV003444197
NM_000249.4(MLH1):c.1171C>T (p.Gln391Ter)	SNV Germline	Chr3:37025769	Pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA004606	rs_587778894	5 SubmittersRCV000075144 RCV001034673 RCV002288566 RCV005357457
NM_000249.4(MLH1):c.1192C>T (p.Gln398Ter)	SNV Germline	Chr3:37025790	Pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA004676	rs_63750483	4 SubmittersRCV000075146 RCV001383026 RCV002336222 RCV003451011
NM_000249.4(MLH1):c.121G>C (p.Asp41His)	SNV Germline	Chr3:36996623	Pathogenic	Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms Condition: not provided	Reviewed By Expert Panel	CA004758	rs_267607713	3 SubmittersRCV000075155 RCV003593875 RCV000255808
NM_000249.4(MLH1):c.1225C>T (p.Gln409Ter)	SNV Germline	Chr3:37025823	Pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary cancer-predisposing syndrome Condition: not provided	Reviewed By Expert Panel	CA004765	rs_63751153	6 SubmittersRCV000075156 RCV000541219 RCV003451013 RCV002362706 RCV005229881
NM_000249.4(MLH1):c.122A>G (p.Asp41Gly)	SNV Germline	Chr3:36996624	Pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA004780	rs_63751094	5 SubmittersRCV000675183 RCV001216631 RCV003451014 RCV002362707
NM_000249.4(MLH1):c.1266C>T (p.Gly422=)	SNV Germline	Chr3:37025864	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Condition: not provided not specified Lynch syndrome MLH1-related disorder	Criteria Provided Conflicting Classifications	CA004884	rs_63750791	13 SubmittersRCV000218731 RCV000524230 RCV000662538 RCV001355583 RCV001818238 RCV003997107 RCV004748552
NM_000249.4(MLH1):c.1276C>T (p.Gln426Ter)	SNV Germline	Chr3:37025874	Pathogenic	Colorectal cancer, hereditary nonpolyposis, type 2 Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms	Reviewed By Expert Panel	CA004908	rs_63750316	8 SubmittersRCV003129769 RCV000075164 RCV000571335 RCV000690382
NM_000249.4(MLH1):c.1327A>C (p.Lys443Gln)	SNV Germline	Chr3:37025925	Conflicting classifications of pathogenicity	Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Condition: not provided Lynch syndrome	Criteria Provided Conflicting Classifications	CA004995	rs_34213726	6 SubmittersRCV000144608 RCV000219360 RCV000697163 RCV001703974 RCV003997108
NM_000249.4(MLH1):c.1409+1G>A	SNV Germline	Chr3:37026008	Likely pathogenic	Hereditary cancer-predisposing syndrome Lynch syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colon cancer	Reviewed By Expert Panel	CA005246	rs_267607825	10 SubmittersRCV000220831 RCV000075192 RCV000519388 RCV000524237 RCV003451024 RCV004782044
NM_000249.4(MLH1):c.1409+1G>C	SNV Germline	Chr3:37026008	Pathogenic	Lynch syndrome Hereditary nonpolyposis colon cancer Familial cancer of breast Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA005254	rs_267607825	6 SubmittersRCV000075193 RCV002281908 RCV005357460 RCV002390216 RCV002513800 RCV003451025
NM_000249.4(MLH1):c.1409+2T>G	SNV Germline	Chr3:37026009	Likely pathogenic	Lynch syndrome	Reviewed By Expert Panel	CA005261	rs_587778911	1 SubmittersRCV000075194
NM_000249.4(MLH1):c.1420C>T (p.Arg474Trp)	SNV Germline/somatic	Chr3:37028794	Conflicting classifications of pathogenicity	Lynch syndrome Condition: not provided not specified Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Criteria Provided Conflicting Classifications	CA005399	rs_147939838	10 SubmittersRCV000075209 RCV000679267 RCV004689443 RCV000820563 RCV001011503 RCV003460706
NM_000249.4(MLH1):c.1421G>A (p.Arg474Gln)	SNV Germline	Chr3:37028795	Conflicting classifications of pathogenicity	Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome not specified Condition: not provided Lynch syndrome	Criteria Provided Conflicting Classifications	CA005413	rs_63751083	10 SubmittersRCV000662517 RCV000685340 RCV000776166 RCV002247468 RCV003129770 RCV003997111
NM_000249.4(MLH1):c.142C>T (p.Gln48Ter)	SNV Germline	Chr3:36996644	Pathogenic	Lynch syndrome Breast and/or ovarian cancer Condition: not provided Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA005419	rs_587778913	8 SubmittersRCV000075212 RCV001270940 RCV000219426 RCV001214512 RCV002390218 RCV003451027
NM_000249.4(MLH1):c.143A>C (p.Gln48Pro)	SNV Germline	Chr3:36996645	Likely pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA005432	rs_587778914	4 SubmittersRCV000075213 RCV001069994 RCV003451028 RCV004943741
NM_000249.4(MLH1):c.1459C>T (p.Arg487Ter)	SNV Germline/somatic	Chr3:37028833	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Colorectal cancer, hereditary nonpolyposis, type 2 Mismatch repair cancer syndrome 1 Muir-Torré syndrome Lynch-like syndrome Lynch syndrome 1 Carcinoma of colon MLH1-related disorder	Reviewed By Expert Panel	CA005475	rs_63749795	24 SubmittersRCV000075218 RCV000128870 RCV000255034 RCV000524240 RCV000662808 RCV000763103 RCV001249944 RCV001093677 RCV001353584 RCV004748554
NM_000249.4(MLH1):c.1460G>A (p.Arg487Gln)	SNV Germline	Chr3:37028834	Conflicting classifications of pathogenicity	Condition: not provided Breast and/or ovarian cancer not specified Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Lynch syndrome	Criteria Provided Conflicting Classifications	CA005483	rs_587778917	12 SubmittersRCV000480533 RCV003492408 RCV004595908 RCV000218037 RCV000630048 RCV001257464 RCV003997113
NM_000249.4(MLH1):c.1462A>T (p.Lys488Ter)	SNV Germline	Chr3:37028836	Pathogenic	Lynch syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA005491	rs_587778918	2 SubmittersRCV000075220 RCV005600639
NM_000249.4(MLH1):c.146T>A (p.Val49Glu)	SNV Germline	Chr3:36996648	Pathogenic	Lynch syndrome Mismatch repair cancer syndrome 1 Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA005522	rs_63750098	2 SubmittersRCV000075223 RCV005394310
NM_000249.4(MLH1):c.1474G>A (p.Ala492Thr)	SNV Germline	Chr3:37028848	Conflicting classifications of pathogenicity	Lynch syndrome Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms not specified Colorectal cancer, hereditary nonpolyposis, type 2 Colorectal cancer, hereditary nonpolyposis, type 2 Mismatch repair cancer syndrome 1 Muir-Torré syndrome	Criteria Provided Conflicting Classifications	CA005528	rs_63751145	13 SubmittersRCV000075224 RCV000132236 RCV000212538 RCV000524241 RCV003478994 RCV003474657 RCV005394311
NM_000249.4(MLH1):c.1487C>G (p.Pro496Arg)	SNV Germline	Chr3:37028861	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Condition: not provided Hereditary nonpolyposis colorectal neoplasms Mismatch repair cancer syndrome 1 Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Lynch syndrome not specified	Criteria Provided Conflicting Classifications	CA005534	rs_63750226	13 SubmittersRCV000221321 RCV000409591 RCV000483364 RCV000627722 RCV000764493 RCV003997114 RCV002228178
NM_000249.4(MLH1):c.1528C>T (p.Gln510Ter)	SNV Germline	Chr3:37028902	Pathogenic	Lynch syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA005676	rs_63749923	4 SubmittersRCV000075235 RCV003451030 RCV000699744 RCV002390219
NM_000249.4(MLH1):c.1534G>T (p.Glu512Ter)	SNV Germline	Chr3:37028908	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Condition: not provided Hereditary nonpolyposis colorectal neoplasms	Reviewed By Expert Panel	CA005696	rs_63751472	5 SubmittersRCV000075236 RCV002399430 RCV003451031 RCV001786332 RCV001854291
NM_000249.4(MLH1):c.1549G>T (p.Gly517Ter)	SNV Germline	Chr3:37028923	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA005724	rs_63751705	2 SubmittersRCV000075239 RCV002399431
NM_000249.4(MLH1):c.1558+1G>T	SNV Germline	Chr3:37028933	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Lynch syndrome 1	Reviewed By Expert Panel	CA005817	rs_267607832	4 SubmittersRCV000075246 RCV002399432 RCV003315592 RCV001804813
NM_000249.4(MLH1):c.1558+2T>G	SNV Germline	Chr3:37028934	Likely pathogenic	Lynch syndrome	Reviewed By Expert Panel	CA005833	rs_267607831	1 SubmittersRCV000075248
NM_000249.4(MLH1):c.1559-1G>A	SNV Germline	Chr3:37040185	Likely pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Condition: not provided Hereditary cancer-predisposing syndrome Carcinoma of colon Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA005884	rs_267607837	6 SubmittersRCV000075253 RCV001238289 RCV001267988 RCV002399433 RCV001358119 RCV003451032
NM_000249.4(MLH1):c.1559-1G>C	SNV Germline	Chr3:37040185	Likely pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Condition: not provided Colorectal cancer, hereditary nonpolyposis, type 2 Muir-Torré syndrome Hereditary nonpolyposis colon cancer	Reviewed By Expert Panel	CA005891	rs_267607837	8 SubmittersRCV000075254 RCV000539690 RCV001012154 RCV001091800 RCV003455989 RCV003448260 RCV005237501
NM_000249.4(MLH1):c.1559-1G>T	SNV Germline	Chr3:37040185	Pathogenic	Lynch syndrome Condition: not provided Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary nonpolyposis colon cancer Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA005896	rs_267607837	9 SubmittersRCV000075255 RCV000485205 RCV002399434 RCV000799045 RCV001193241 RCV003451033
NM_000249.4(MLH1):c.1559-2A>C	SNV Germline	Chr3:37040184	Likely pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Condition: not provided	Reviewed By Expert Panel	CA005902	rs_267607836	4 SubmittersRCV000075256 RCV000524243 RCV003451034 RCV004696681
NM_000249.4(MLH1):c.1559-2A>G	SNV Germline	Chr3:37040184	Pathogenic	Lynch syndrome Condition: not provided Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA005907	rs_267607836	7 SubmittersRCV000075257 RCV000520869 RCV000410283 RCV001201368 RCV004943742
NM_000249.4(MLH1):c.1559-2A>T	SNV Germline	Chr3:37040184	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA005913	rs_267607836	2 SubmittersRCV000075258 RCV002399435
NM_000249.4(MLH1):c.1565G>A (p.Arg522Gln)	SNV Germline	Chr3:37040192	Conflicting classifications of pathogenicity	Lynch syndrome Condition: not provided Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome not specified Colorectal cancer, hereditary nonpolyposis, type 2 Mismatch repair cancer syndrome 1 Muir-Torré syndrome	Criteria Provided Conflicting Classifications	CA005937	rs_63751630	15 SubmittersRCV000075265 RCV000483197 RCV000662491 RCV000627718 RCV000566893 RCV001778702 RCV005025121
NM_000249.4(MLH1):c.1574T>A (p.Leu525Ter)	SNV Germline	Chr3:37040201	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA005996	rs_587778929	4 SubmittersRCV000075271 RCV001180387 RCV003451038
NM_000249.4(MLH1):c.1609C>T (p.Gln537Ter)	SNV Germline	Chr3:37040236	Pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Condition: not provided Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA006033	rs_63751277	5 SubmittersRCV000075275 RCV002513801 RCV003451039 RCV001354465 RCV002390220
NM_000249.4(MLH1):c.1613G>A (p.Trp538Ter)	SNV Germline	Chr3:37040240	Pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA006106	rs_587778933	4 SubmittersRCV000075276 RCV000545817 RCV000567360 RCV003451040
NM_000249.4(MLH1):c.1614G>A (p.Trp538Ter)	SNV Germline	Chr3:37040241	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA006115	rs_267607842	3 SubmittersRCV000075277 RCV002399437 RCV003451041
NM_000249.4(MLH1):c.1624C>T (p.Gln542Ter)	SNV Germline	Chr3:37040251	Pathogenic	Lynch syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA006166	rs_63750192	7 SubmittersRCV000075283 RCV000657575 RCV001201351 RCV002399438 RCV003451042
NM_000249.4(MLH1):c.1633A>G (p.Thr545Ala)	SNV Germline	Chr3:37040260	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Colorectal cancer, hereditary nonpolyposis, type 2 Condition: not provided Hereditary nonpolyposis colorectal neoplasms MLH1-related disorder Lynch syndrome Breast and/or ovarian cancer Mismatch repair cancer syndrome 1 Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Criteria Provided Conflicting Classifications	CA006190	rs_267607840	21 SubmittersRCV000130610 RCV000212542 RCV000606136 RCV000656863 RCV000524244 RCV003935009 RCV003997116 RCV003492409 RCV005025122
NM_000249.4(MLH1):c.1640T>A (p.Leu547Ter)	SNV Germline	Chr3:37040267	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms	Reviewed By Expert Panel	CA006204	rs_63750300	3 SubmittersRCV000075288 RCV002399439 RCV002514340
NM_000249.4(MLH1):c.1644C>G (p.Tyr548Ter)	SNV Germline	Chr3:37040271	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA006215	rs_63751087	2 SubmittersRCV000075289 RCV002399440
NM_000249.4(MLH1):c.1649T>C (p.Leu550Pro)	SNV Germline	Chr3:37040276	Pathogenic	Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA006231	rs_63750193	4 SubmittersRCV000075292 RCV001212034 RCV000570739 RCV003451045
NM_000249.4(MLH1):c.1664T>C (p.Leu555Pro)	SNV Germline	Chr3:37040291	Likely pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA006269	rs_587778937	3 SubmittersRCV000075296 RCV002399441 RCV003451046
NM_000249.4(MLH1):c.1667G>T (p.Ser556Ile)	SNV Germline	Chr3:37040294	Pathogenic	Lynch syndrome	Reviewed By Expert Panel	CA006292	rs_63751596	1 SubmittersRCV000075299
NM_000249.4(MLH1):c.1668-1G>A	SNV Germline/somatic	Chr3:37042267	Likely pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Condition: not provided	Reviewed By Expert Panel	CA006307	rs_267607845	10 SubmittersRCV000075300 RCV000214110 RCV000629693 RCV003451048 RCV001353428
NM_000249.4(MLH1):c.1668-1G>T	SNV Germline	Chr3:37042267	Likely pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA006313	rs_267607845	5 SubmittersRCV000075301 RCV001854292 RCV003451049
NM_000249.4(MLH1):c.1668-3C>A	SNV Germline	Chr3:37042265	Likely pathogenic	Lynch syndrome Carcinoma of colon Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA006330	rs_267607844	3 SubmittersRCV000075303 RCV000503705 RCV002399442
NM_000249.4(MLH1):c.1669G>T (p.Glu557Ter)	SNV Germline	Chr3:37042269	Pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA006349	rs_63751244	4 SubmittersRCV000075308 RCV000791445 RCV002399443 RCV003455990
NM_000249.4(MLH1):c.1672G>T (p.Glu558Ter)	SNV Germline	Chr3:37042272	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA006355	rs_63751081	2 SubmittersRCV000075309 RCV002399444
NM_000249.4(MLH1):c.1683C>G (p.Tyr561Ter)	SNV Germline	Chr3:37042283	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA006384	rs_63751393	4 SubmittersRCV000075312 RCV001012704 RCV000703498 RCV003451050
NM_000249.4(MLH1):c.1684C>T (p.Gln562Ter)	SNV Germline	Chr3:37042284	Pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary nonpolyposis colon cancer Lynch syndrome 1 Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA006391	rs_63751460	6 SubmittersRCV000075313 RCV001240104 RCV001192578 RCV001310198 RCV002408574 RCV003451051
NM_000249.4(MLH1):c.1693A>T (p.Ile565Phe)	SNV Germline	Chr3:37042293	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Criteria Provided Conflicting Classifications	CA006426	rs_63750062	8 SubmittersRCV000160538 RCV000234862 RCV000627705 RCV001354474 RCV005246618
NM_000249.4(MLH1):c.1721T>C (p.Leu574Pro)	SNV Germline/somatic	Chr3:37042321	Likely pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms	Reviewed By Expert Panel	CA006493	rs_63751608	4 SubmittersRCV000075320 RCV002408575 RCV000698457
NM_000249.4(MLH1):c.1731+1G>A	SNV Germline/somatic	Chr3:37042332	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Lynch-like syndrome Condition: not provided Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colorectal neoplasms	Reviewed By Expert Panel	CA006527	rs_267607853	9 SubmittersRCV000075322 RCV000574302 RCV001250003 RCV001579372 RCV003451053 RCV002514341
NM_000249.4(MLH1):c.1731+1G>C	SNV Germline/somatic	Chr3:37042332	Likely pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA006535	rs_267607853	5 SubmittersRCV000075323 RCV000693129 RCV002408576 RCV003451054
NM_000249.4(MLH1):c.1731+1G>T	SNV Germline	Chr3:37042332	Likely pathogenic	Lynch syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colorectal neoplasms Condition: not provided Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA006540	rs_267607853	7 SubmittersRCV000075324 RCV000576509 RCV000685725 RCV001567027 RCV002408577
NM_000249.4(MLH1):c.1731+2T>G	SNV Germline	Chr3:37042333	Likely pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA006555	rs_267607856	3 SubmittersRCV000075326 RCV000797048 RCV003451055
NM_000249.4(MLH1):c.1731+3A>T	SNV Germline	Chr3:37042334	Likely pathogenic	Lynch syndrome	Reviewed By Expert Panel	CA006561	rs_267607851	1 SubmittersRCV000075327
NM_000249.4(MLH1):c.1731+5G>A	SNV Germline	Chr3:37042336	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Muir-Torré syndrome Condition: not provided Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA006570	rs_267607850	6 SubmittersRCV000075328 RCV001012888 RCV001201385 RCV005357461 RCV002279946 RCV003451056
NM_000249.4(MLH1):c.1731G>A (p.Ser577=)	SNV Germline	Chr3:37042331	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Colon cancer Lynch syndrome 1 Hereditary nonpolyposis colon cancer Breast and/or ovarian cancer Colorectal cancer, hereditary nonpolyposis, type 2 Mismatch repair cancer syndrome 1 Muir-Torré syndrome MLH1-related disorder	Reviewed By Expert Panel	CA006585	rs_63751657	19 SubmittersRCV000075331 RCV000132025 RCV000202231 RCV000524246 RCV000662481 RCV001580146 RCV001804815 RCV001553748 RCV003492410 RCV002483122 RCV004748555
NM_000249.4(MLH1):c.1732-1G>A	SNV Germline	Chr3:37047518	Pathogenic	Lynch syndrome Carcinoma of colon Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA006615	rs_267607854	5 SubmittersRCV000075333 RCV001355292 RCV002408578 RCV002514342 RCV003451057
NM_000249.4(MLH1):c.1732-2A>G	SNV Germline	Chr3:37047517	Likely pathogenic	Hereditary cancer-predisposing syndrome Lynch syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA006625	rs_267607852	5 SubmittersRCV002399446 RCV000075335 RCV000506870 RCV001386351 RCV003451058
NM_000249.4(MLH1):c.1732-2A>T	SNV Germline	Chr3:37047517	Pathogenic	Lynch syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA006632	rs_267607852	2 SubmittersRCV000075336 RCV003451059
NM_000249.4(MLH1):c.1744C>G (p.Leu582Val)	SNV Germline	Chr3:37047531	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colorectal neoplasms not specified Hereditary breast ovarian cancer syndrome Lynch syndrome	Criteria Provided Conflicting Classifications	CA006690	rs_63751713	7 SubmittersRCV000571505 RCV004019101 RCV000627697 RCV001193957 RCV001030630 RCV003997117
NM_000249.4(MLH1):c.1745T>C (p.Leu582Pro)	SNV Germline	Chr3:37047532	Pathogenic	Lynch syndrome	Reviewed By Expert Panel	CA006717	rs_63751616	1 SubmittersRCV000075347
NM_000249.4(MLH1):c.1766C>A (p.Ala589Asp)	SNV Germline	Chr3:37047553	Likely pathogenic	Lynch syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA006836	rs_63750016	2 SubmittersRCV000075360 RCV003451065
NM_000249.4(MLH1):c.1790G>A (p.Trp597Ter)	SNV Germline	Chr3:37047577	Pathogenic	Condition: not provided Lynch syndrome Hereditary cancer-predisposing syndrome Carcinoma of colon Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colon cancer Hereditary nonpolyposis colorectal neoplasms	Reviewed By Expert Panel	CA006929	rs_63750604	9 SubmittersRCV000479277 RCV000075365 RCV000565193 RCV001354093 RCV003451068 RCV003492411 RCV003153348
NM_000249.4(MLH1):c.1810A>T (p.Lys604Ter)	SNV Germline	Chr3:37047597	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Condition: not provided	Reviewed By Expert Panel	CA006984	rs_63750386	4 SubmittersRCV000075370 RCV002255277 RCV003451069 RCV000985779
NM_000249.4(MLH1):c.184C>T (p.Gln62Ter)	SNV Germline	Chr3:36996686	Pathogenic	Lynch syndrome Condition: not provided Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA007117	rs_63751428	9 SubmittersRCV000075379 RCV000254916 RCV000217644 RCV000694109 RCV003451072
NM_000249.4(MLH1):c.1852A>G (p.Lys618Glu)	SNV Germline	Chr3:37047639	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome not specified Colorectal cancer, hereditary nonpolyposis, type 2 Breast and/or ovarian cancer Hereditary nonpolyposis colorectal neoplasms Lynch syndrome	Criteria Provided Conflicting Classifications	CA007156	rs_35001569	21 SubmittersRCV000114852 RCV000132423 RCV000174992 RCV000663286 RCV003149734 RCV001083570 RCV003997118
NM_000249.4(MLH1):c.1852A>T (p.Lys618Ter)	SNV Germline	Chr3:37047639	Pathogenic	Lynch syndrome	Reviewed By Expert Panel	CA007164	rs_35001569	1 SubmittersRCV000075381
NM_000249.4(MLH1):c.1855G>C (p.Ala619Pro)	SNV Germline	Chr3:37047642	Likely pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA007222	rs_267607866	4 SubmittersRCV000075387 RCV000548274 RCV003451073 RCV000165622
NM_000249.4(MLH1):c.1865T>C (p.Leu622Pro)	SNV Germline	Chr3:37047652	Pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA007245	rs_63750693	3 SubmittersRCV000075390 RCV001201390 RCV002408581
NM_000249.4(MLH1):c.1875T>G (p.Tyr625Ter)	SNV Germline	Chr3:37047662	Pathogenic	Lynch syndrome	Reviewed By Expert Panel	CA007270	rs_63751415	1 SubmittersRCV000075393
NM_000249.4(MLH1):c.187G>A (p.Asp63Asn)	SNV Germline	Chr3:36996689	Pathogenic/Likely pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2	Criteria Provided Multiple Submitters No Conflicts	CA007334	rs_63750850	6 SubmittersRCV000075399 RCV000160535 RCV000212515 RCV000694220 RCV003460707
NM_000249.4(MLH1):c.1896+1G>A	SNV Germline	Chr3:37047684	Likely pathogenic	Hereditary nonpolyposis colorectal neoplasms Lynch syndrome Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA007410	rs_267607867	4 SubmittersRCV000541555 RCV000075404 RCV002408583 RCV003451077
NM_000249.4(MLH1):c.1896+1G>T	SNV Germline	Chr3:37047684	Likely pathogenic	Lynch syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA007419	rs_267607867	7 SubmittersRCV000075405 RCV000479456 RCV000684807 RCV002288568 RCV001013523
NM_000249.4(MLH1):c.1896+2T>C	SNV Germline	Chr3:37047685	Likely pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Condition: not provided Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA007427	rs_267607869	4 SubmittersRCV000075407 RCV001854293 RCV003235032 RCV002408584
NM_000249.4(MLH1):c.1896G>A (p.Glu632=)	SNV Germline	Chr3:37047683	Pathogenic	Lynch syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Hereditary nonpolyposis colon cancer Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA007444	rs_63751632	15 SubmittersRCV000075409 RCV000498248 RCV000524256 RCV001193961 RCV000605751 RCV001013527
NM_000249.4(MLH1):c.1897-2A>G	SNV Germline	Chr3:37048515	Likely pathogenic	Lynch syndrome Condition: not provided Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Mismatch repair cancer syndrome 1 Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2 not specified Familial cancer of breast	Reviewed By Expert Panel	CA007469	rs_267607871	13 SubmittersRCV000075411 RCV000487325 RCV000570210 RCV000524638 RCV000763104 RCV000662785 RCV001844029 RCV005357463
NM_000249.4(MLH1):c.189C>A (p.Asp63Glu)	SNV Germline	Chr3:36996691	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA007476	rs_587778955	2 SubmittersRCV000075413 RCV004943743
NM_000249.4(MLH1):c.1918C>T (p.Pro640Ser)	SNV Germline	Chr3:37048538	Likely pathogenic	Carcinoma of colon Condition: not provided Colorectal cancer, hereditary nonpolyposis, type 2 Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary nonpolyposis colon cancer	Reviewed By Expert Panel	CA007602	rs_63749792	8 SubmittersRCV001354000 RCV002223786 RCV002291271 RCV000075424 RCV000569430 RCV000791363 RCV001193959
NM_000249.4(MLH1):c.1919C>T (p.Pro640Leu)	SNV Germline	Chr3:37048539	Likely pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA007611	rs_267607875	4 SubmittersRCV000075425 RCV000821758 RCV003451083 RCV002408588
NM_000249.4(MLH1):c.191A>G (p.Asn64Ser)	SNV Germline	Chr3:36996693	Conflicting classifications of pathogenicity	Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Lynch syndrome 1 Condition: not provided Lynch syndrome Mismatch repair cancer syndrome 1 Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2 not specified Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary breast ovarian cancer syndrome MLH1-related disorder	Criteria Provided Conflicting Classifications	CA007619	rs_63750952	19 SubmittersRCV000075426 RCV000217492 RCV000490571 RCV000513562 RCV000708912 RCV005025123 RCV005055564 RCV001262297 RCV002288569 RCV004760365 RCV004748556
NM_000249.4(MLH1):c.1943C>T (p.Pro648Leu)	SNV Germline	Chr3:37048563	Likely pathogenic	Colorectal cancer, hereditary nonpolyposis, type 2 Mismatch repair cancer syndrome 1 Muir-Torré syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 1 Hereditary cancer-predisposing syndrome Condition: not provided Lynch syndrome	Reviewed By Expert Panel	CA007716	rs_63750610	8 SubmittersRCV000477957 RCV000812087 RCV000075433 RCV000221413 RCV001269952 RCV003997119
NM_000249.4(MLH1):c.194G>A (p.Gly65Asp)	SNV Germline	Chr3:36996696	Likely pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms	Reviewed By Expert Panel	CA007735	rs_63751465	3 SubmittersRCV000075435 RCV000564174 RCV001201396
NM_000249.4(MLH1):c.1958T>G (p.Leu653Arg)	SNV Germline	Chr3:37048578	Likely pathogenic	Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA007760	rs_63751202	4 SubmittersRCV000075437 RCV001203288 RCV003451086 RCV002415523
NM_000249.4(MLH1):c.1961C>T (p.Pro654Leu)	SNV Germline	Chr3:37048581	Pathogenic	Lynch syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Breast carcinoma Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2 MLH1-related disorder	Reviewed By Expert Panel	CA007789	rs_63750726	10 SubmittersRCV000075439 RCV000215855 RCV001201909 RCV001554328 RCV002415524 RCV002463635 RCV004724792
NM_000249.4(MLH1):c.1975C>T (p.Arg659Ter)	SNV Germline	Chr3:37048595	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Hereditary nonpolyposis colon cancer Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA007865	rs_63751310	14 SubmittersRCV000075444 RCV000128869 RCV000202252 RCV000524261 RCV003226186 RCV003451087
NM_000249.4(MLH1):c.1976G>A (p.Arg659Gln)	SNV Germline	Chr3:37048596	Conflicting classifications of pathogenicity	not specified Condition: not provided Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Mismatch repair cancer syndrome 1 Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Lynch syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Criteria Provided Conflicting Classifications	CA007891	rs_63749900	12 SubmittersRCV000121365 RCV000656865 RCV001081501 RCV000568527 RCV005031554 RCV003997120 RCV005600642
NM_000249.4(MLH1):c.1976G>C (p.Arg659Pro)	SNV Germline	Chr3:37048596	Pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Condition: not provided Colorectal cancer, hereditary nonpolyposis, type 2 Inherited MMR deficiency (Lynch syndrome)	Reviewed By Expert Panel	CA007900	rs_63749900	6 SubmittersRCV000075447 RCV001064800 RCV002415525 RCV003237435 RCV003451088 RCV005252732
NM_000249.4(MLH1):c.1976G>T (p.Arg659Leu)	SNV Germline	Chr3:37048596	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms	Reviewed By Expert Panel	CA007908	rs_63749900	4 SubmittersRCV000075448 RCV000572238 RCV005089506
NM_000249.4(MLH1):c.1984A>C (p.Thr662Pro)	SNV Germline	Chr3:37048604	Likely pathogenic	Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colon cancer Lynch syndrome	Reviewed By Expert Panel	CA007926	rs_587778964	6 SubmittersRCV000524263 RCV001013906 RCV003451089 RCV005237503 RCV000075450
NM_000249.4(MLH1):c.1989+1G>A	SNV Germline	Chr3:37048610	Pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA090784	rs_267607879	4 SubmittersRCV000075455 RCV000691557 RCV002415526
NM_000249.4(MLH1):c.1989+1G>C	SNV Germline	Chr3:37048610	Likely pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Condition: not provided Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA007969	rs_267607879	5 SubmittersRCV000075456 RCV001054272 RCV004696684 RCV004943744 RCV003451090
NM_000249.4(MLH1):c.1989+1G>T	SNV Germline	Chr3:37048610	Pathogenic	Lynch syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA007977	rs_267607879	7 SubmittersRCV000075457 RCV000679272 RCV000794468 RCV001180388
NM_000249.4(MLH1):c.1989+5G>C	SNV Germline/somatic	Chr3:37048614	Pathogenic/Likely pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Criteria Provided Multiple Submitters No Conflicts	CA007990	rs_267607878	4 SubmittersRCV000075459 RCV001040247 RCV002415527 RCV003451091
NM_000249.4(MLH1):c.1989G>A (p.Glu663=)	SNV Germline	Chr3:37048609	Pathogenic	Condition: not provided Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 1 Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA008008	rs_63751662	5 SubmittersRCV000508038 RCV000075461 RCV000680174 RCV001525221
NM_000249.4(MLH1):c.1989G>T (p.Glu663Asp)	SNV Germline	Chr3:37048609	Pathogenic	Lynch syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Carcinoma of colon	Reviewed By Expert Panel	CA008016	rs_63751662	7 SubmittersRCV000075462 RCV000256174 RCV000524264 RCV002415528 RCV001353681
NM_000249.4(MLH1):c.1990-1G>A	SNV Germline	Chr3:37048903	Pathogenic	Lynch syndrome Condition: not provided Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms	Reviewed By Expert Panel	CA008052	rs_267607884	5 SubmittersRCV000075467 RCV000985780 RCV001013970 RCV003593880
NM_000249.4(MLH1):c.1990-1G>T	SNV Germline/somatic	Chr3:37048903	Likely pathogenic	Lynch syndrome Lynch-like syndrome Hereditary nonpolyposis colorectal neoplasms	Reviewed By Expert Panel	CA008060	rs_267607884	3 SubmittersRCV000075468 RCV001250002 RCV001854294
NM_000249.4(MLH1):c.1990-2A>G	SNV Germline	Chr3:37048902	Pathogenic	Lynch syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA008068	rs_267607883	5 SubmittersRCV000075469 RCV000202242 RCV000690743 RCV003466957 RCV004943745
NM_000249.4(MLH1):c.1998G>A (p.Trp666Ter)	SNV Germline	Chr3:37048912	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Condition: not provided	Reviewed By Expert Panel	CA008096	rs_63750639	4 SubmittersRCV000075473 RCV002415529 RCV002514344 RCV000627203
NM_000249.4(MLH1):c.199G>A (p.Gly67Arg)	SNV Germline/somatic	Chr3:36996701	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Lynch syndrome 1 Carcinoma of colon Lynch-like syndrome Hereditary nonpolyposis colon cancer	Reviewed By Expert Panel	CA008104	rs_63750206	24 SubmittersRCV000075474 RCV000128871 RCV000202032 RCV000524266 RCV000662719 RCV001310195 RCV001353779 RCV001249945 RCV001290649
NM_000249.4(MLH1):c.1A>G (p.Met1Val)	SNV Germline	Chr3:36993548	Pathogenic	Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Mismatch repair cancer syndrome 1 Muir-Torré syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Reviewed By Expert Panel	CA008127	rs_587778967	5 SubmittersRCV000075477 RCV000629832 RCV005031555 RCV002415530 RCV003477467
NM_000249.4(MLH1):c.2011G>T (p.Glu671Ter)	SNV Germline/somatic	Chr3:37048925	Pathogenic	Colorectal cancer, hereditary nonpolyposis, type 2 Lynch syndrome Lynch-like syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms	Reviewed By Expert Panel	CA008195	rs_63750663	5 SubmittersRCV003451094 RCV000075483 RCV001249947 RCV002415532 RCV005089507
NM_000249.4(MLH1):c.2027T>C (p.Leu676Pro)	SNV Germline	Chr3:37048941	Conflicting classifications of pathogenicity	Hereditary nonpolyposis colorectal neoplasms Condition: not provided Lynch syndrome Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Criteria Provided Conflicting Classifications	CA008222	rs_63750242	5 SubmittersRCV000695668 RCV000985781 RCV000075485 RCV000216198 RCV000987189
NM_000249.4(MLH1):c.2035G>T (p.Glu679Ter)	SNV Germline	Chr3:37048949	Pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Condition: not provided Hereditary cancer-predisposing syndrome Carcinoma of colon Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA008258	rs_587778971	6 SubmittersRCV000075489 RCV000529563 RCV000507295 RCV001014093 RCV001353532 RCV003451095
NM_000249.4(MLH1):c.2038T>C (p.Cys680Arg)	SNV Germline	Chr3:37048952	Likely pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Carcinoma of colon Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA008266	rs_63750809	8 SubmittersRCV000075490 RCV000215088 RCV000791351 RCV001353998 RCV003451096
NM_000249.4(MLH1):c.2038T>G (p.Cys680Gly)	SNV Germline	Chr3:37048952	Conflicting classifications of pathogenicity	Hereditary nonpolyposis colorectal neoplasms not specified Lynch syndrome Condition: not provided Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Criteria Provided Conflicting Classifications	CA008274	rs_63750809	14 SubmittersRCV000684822 RCV002228179 RCV003997122 RCV000483931 RCV000579550 RCV000411388
NM_000249.4(MLH1):c.203T>A (p.Ile68Asn)	SNV Germline	Chr3:36996705	Likely pathogenic	Lynch syndrome Condition: not provided	Reviewed By Expert Panel	CA008282	rs_63750281	2 SubmittersRCV000075492 RCV001269638
NM_000249.4(MLH1):c.2040C>A (p.Cys680Ter)	SNV Germline	Chr3:37048954	Pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA008289	rs_63749867	6 SubmittersRCV000075493 RCV000524268 RCV000573665 RCV003451097
NM_000249.4(MLH1):c.2040C>T (p.Cys680=)	SNV Germline/somatic	Chr3:37048954	Conflicting classifications of pathogenicity	Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Condition: not provided Muir-Torré syndrome	Criteria Provided Conflicting Classifications	CA008297	rs_63749867	9 SubmittersRCV000075494 RCV000567661 RCV000541158 RCV000662499 RCV001711130 RCV005357465
NM_000249.4(MLH1):c.2048T>C (p.Phe683Ser)	SNV Germline	Chr3:37048962	Likely pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Condition: not provided Carcinoma of colon Hereditary nonpolyposis colorectal neoplasms Hereditary nonpolyposis colon cancer	Reviewed By Expert Panel	CA008321	rs_587778972	7 SubmittersRCV000075497 RCV001014231 RCV003451098 RCV000589365 RCV001355274 RCV001209526 RCV005237504
NM_000249.4(MLH1):c.2059C>T (p.Arg687Trp)	SNV Germline	Chr3:37048973	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Condition: not provided Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colorectal neoplasms Mismatch repair cancer syndrome 1 Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Lynch syndrome 1 Carcinoma of colon MLH1-related disorder	Reviewed By Expert Panel	CA008336	rs_63751275	24 SubmittersRCV000075499 RCV000215428 RCV000481137 RCV000411954 RCV000524272 RCV000763106 RCV001093679 RCV001356525 RCV003915039
NM_000249.4(MLH1):c.207+1G>A	SNV Germline	Chr3:36996710	Likely pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA008419	rs_267607718	10 SubmittersRCV000075505 RCV000128866 RCV000202020 RCV000627707 RCV003451099
NM_000249.4(MLH1):c.207+1G>T	SNV Germline	Chr3:36996710	Likely pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA008427	rs_267607718	4 SubmittersRCV000075506 RCV001854295 RCV002415534 RCV003455992
NM_000249.4(MLH1):c.207+2T>C	SNV Germline	Chr3:36996711	Likely pathogenic	Lynch syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms not specified Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA008435	rs_267607722	6 SubmittersRCV000075508 RCV000507560 RCV001210840 RCV001000153 RCV001014311 RCV003455993
NM_000249.4(MLH1):c.208-1G>A	SNV Germline	Chr3:37000954	Pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA008505	rs_267607717	4 SubmittersRCV000075514 RCV000629825 RCV003451100 RCV002415535
NM_000249.4(MLH1):c.208-2A>G	SNV Germline	Chr3:37000953	Pathogenic	Lynch syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA008517	rs_267607716	3 SubmittersRCV000075516 RCV003137610 RCV002415536
NM_000249.4(MLH1):c.208-3C>G	SNV Germline/somatic	Chr3:37000952	Likely pathogenic	Condition: not provided Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Mismatch repair cancer syndrome 1 Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA008526	rs_267607720	8 SubmittersRCV000160554 RCV000075517 RCV000562969 RCV000524274 RCV000763098 RCV003451102
NM_000249.4(MLH1):c.2084C>A (p.Ser695Ter)	SNV Germline	Chr3:37048998	Pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colon cancer	Reviewed By Expert Panel	CA008537	rs_63749995	6 SubmittersRCV000075523 RCV001059462 RCV003455995 RCV002415537 RCV005055565
NM_000249.4(MLH1):c.2093C>G (p.Ser698Ter)	SNV Germline	Chr3:37049007	Pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA008574	rs_587778975	6 SubmittersRCV000075525 RCV000706709 RCV003451103 RCV002415539
NM_000249.4(MLH1):c.2101C>T (p.Gln701Ter)	SNV Germline	Chr3:37049015	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Condition: not provided	Reviewed By Expert Panel	CA008607	rs_63750114	7 SubmittersRCV000075528 RCV002415540 RCV001854297 RCV003451104 RCV003480053
NM_000249.4(MLH1):c.2103+1G>A	SNV Germline	Chr3:37049018	Pathogenic	Hereditary cancer-predisposing syndrome Lynch syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA008626	rs_267607888	7 SubmittersRCV002415541 RCV000075529 RCV000202158 RCV001380413 RCV005600643
NM_000249.4(MLH1):c.2103+1G>C	SNV Germline	Chr3:37049018	Likely pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms	Reviewed By Expert Panel	CA008633	rs_267607888	2 SubmittersRCV000075530 RCV001380414
NM_000249.4(MLH1):c.2103+1G>T	SNV Germline	Chr3:37049018	Likely pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms	Reviewed By Expert Panel	CA008639	rs_267607888	5 SubmittersRCV000075531 RCV000446141 RCV000483619 RCV003593881
NM_000249.4(MLH1):c.2103G>C (p.Gln701His)	SNV Germline	Chr3:37049017	Pathogenic	Colorectal cancer, hereditary nonpolyposis, type 2 Lynch syndrome Lynch syndrome 1 Hereditary nonpolyposis colon cancer Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Condition: not provided	Reviewed By Expert Panel	CA008661	rs_63750603	8 SubmittersRCV002288570 RCV000075534 RCV001093697 RCV001549279 RCV000694604 RCV001014446 RCV003477468
NM_000249.4(MLH1):c.2104-1G>T	SNV Germline	Chr3:37050485	Likely pathogenic	Lynch syndrome	Reviewed By Expert Panel	CA008680	rs_587778978	1 SubmittersRCV000075537
NM_000249.4(MLH1):c.2104-2A>G	SNV Germline	Chr3:37050484	Likely pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA008707	rs_267607889	3 SubmittersRCV000075539 RCV001314807 RCV003451105
NM_000249.4(MLH1):c.2104-2A>T	SNV Germline	Chr3:37050484	Pathogenic	Lynch syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA008714	rs_267607889	3 SubmittersRCV000075540 RCV003451106 RCV002415543
NM_000249.4(MLH1):c.211G>T (p.Glu71Ter)	SNV Germline	Chr3:37000958	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA008784	rs_63749829	2 SubmittersRCV000075548 RCV002415545
NM_000249.4(MLH1):c.2135G>A (p.Trp712Ter)	SNV Germline	Chr3:37050517	Pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 1 Colorectal cancer, hereditary nonpolyposis, type 2 Mismatch repair cancer syndrome 1 Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA008833	rs_63750561	12 SubmittersRCV000202047 RCV000581002 RCV000075550 RCV000686456 RCV001310200 RCV005394315 RCV003451108
NM_000249.4(MLH1):c.2136G>A (p.Trp712Ter)	SNV Germline/somatic	Chr3:37050518	Pathogenic	Lynch syndrome Lynch-like syndrome Hereditary cancer-predisposing syndrome Condition: not provided Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA008842	rs_63750499	5 SubmittersRCV000075551 RCV001249996 RCV002415546 RCV004700376 RCV003451109
NM_000249.4(MLH1):c.2141G>A (p.Trp714Ter)	SNV Germline	Chr3:37050523	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Condition: not provided Lynch syndrome 1 Colorectal cancer, hereditary nonpolyposis, type 2 Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA008850	rs_63751022	10 SubmittersRCV000075553 RCV000165669 RCV001044497 RCV002280100 RCV000144606 RCV005357468 RCV003451110
NM_000249.4(MLH1):c.2153A>C (p.His718Pro)	SNV Germline	Chr3:37050535	Likely pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Muir-Torré syndrome	Reviewed By Expert Panel	CA008900	rs_587778983	3 SubmittersRCV000075557 RCV000694232 RCV002247469
NM_000249.4(MLH1):c.2159T>G (p.Val720Gly)	SNV Germline	Chr3:37050541	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome	Criteria Provided Conflicting Classifications	CA008948	rs_587778985	7 SubmittersRCV000162502 RCV002288571 RCV000627729 RCV003997124
NM_000249.4(MLH1):c.2162A>G (p.Tyr721Cys)	SNV Germline	Chr3:37050544	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colorectal neoplasms not specified Colorectal cancer, hereditary nonpolyposis, type 2 Mismatch repair cancer syndrome 1 Muir-Torré syndrome MLH1-related disorder Lynch syndrome	Criteria Provided Conflicting Classifications	CA008958	rs_587778986	13 SubmittersRCV000160544 RCV000212548 RCV000409675 RCV000524278 RCV000781540 RCV002483123 RCV003390768 RCV003997125
NM_000249.4(MLH1):c.2163T>A (p.Tyr721Ter)	SNV Germline	Chr3:37050545	Pathogenic	Lynch syndrome	Reviewed By Expert Panel	CA008969	rs_63750484	1 SubmittersRCV000075565
NM_000249.4(MLH1):c.2173C>T (p.Arg725Cys)	SNV Germline	Chr3:37050555	Conflicting classifications of pathogenicity	Hereditary nonpolyposis colorectal neoplasms not specified Hereditary cancer-predisposing syndrome Condition: not provided Lynch syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Criteria Provided Conflicting Classifications	CA009001	rs_138584384	9 SubmittersRCV000627721 RCV000485816 RCV001014672 RCV000767193 RCV003997126 RCV004566928
NM_000249.4(MLH1):c.2174G>A (p.Arg725His)	SNV Germline	Chr3:37050556	Conflicting classifications of pathogenicity	Lynch syndrome Hereditary cancer-predisposing syndrome not specified Condition: not provided Mismatch repair cancer syndrome 1 Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colorectal neoplasms	Criteria Provided Conflicting Classifications	CA009007	rs_566928243	17 SubmittersRCV000075568 RCV000115473 RCV000212549 RCV000586779 RCV000764498 RCV001147135 RCV001079417
NM_000249.4(MLH1):c.2194A>T (p.Lys732Ter)	SNV Germline	Chr3:37050576	Pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Condition: not provided Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA009077	rs_267607906	6 SubmittersRCV000075573 RCV000558933 RCV000564805 RCV001353662 RCV003451115
NM_000249.4(MLH1):c.2210A>T (p.Asp737Val)	SNV Germline	Chr3:37050592	Conflicting classifications of pathogenicity	Condition: not provided Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome MLH1-related disorder Lynch syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Criteria Provided Conflicting Classifications	CA009102	rs_267607885	8 SubmittersRCV000115474 RCV000791373 RCV000563079 RCV003894921 RCV003997127 RCV004566929
NM_000249.4(MLH1):c.2224C>T (p.Gln742Ter)	SNV Germline	Chr3:37050606	Pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA009163	rs_587778992	5 SubmittersRCV000075580 RCV001040530 RCV000574085 RCV003451117
NM_000249.4(MLH1):c.2246T>C (p.Leu749Pro)	SNV Germline	Chr3:37050628	Pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Colorectal cancer, hereditary nonpolyposis, type 2 MLH1-related disorder Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Carcinoma of colon	Reviewed By Expert Panel	CA009197	rs_267607894	12 SubmittersRCV000216146 RCV000478074 RCV001823108 RCV004724793 RCV000075583 RCV000627694 RCV001355258
NM_000249.4(MLH1):c.229T>C (p.Cys77Arg)	SNV Germline	Chr3:37000976	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colon cancer Condition: not provided Hereditary nonpolyposis colorectal neoplasms	Reviewed By Expert Panel	CA009324	rs_63749859	5 SubmittersRCV000075596 RCV000220766 RCV001192575 RCV001358424 RCV001854300
NM_000249.4(MLH1):c.230G>A (p.Cys77Tyr)	SNV Germline	Chr3:37000977	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colorectal neoplasms Condition: not provided	Reviewed By Expert Panel	CA009334	rs_63750437	12 SubmittersRCV000075598 RCV000562335 RCV001262551 RCV000791362 RCV003477469
NM_000249.4(MLH1):c.238T>G (p.Phe80Val)	SNV Germline	Chr3:37000985	Likely pathogenic	Lynch syndrome 1 Condition: not provided Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA009371	rs_63749990	4 SubmittersRCV000075601 RCV001091798 RCV001379075 RCV004019103
NM_000249.4(MLH1):c.244A>G (p.Thr82Ala)	SNV Germline	Chr3:37000991	Likely pathogenic	Lynch syndrome 1 Lynch syndrome Hereditary cancer-predisposing syndrome not specified Hereditary nonpolyposis colorectal neoplasms Carcinoma of colon Colorectal cancer, hereditary nonpolyposis, type 2 Condition: not provided Hereditary nonpolyposis colon cancer	Reviewed By Expert Panel	CA009402	rs_587778998	14 SubmittersRCV000490565 RCV000075602 RCV000166056 RCV000506252 RCV000542720 RCV001353582 RCV002467439 RCV004595910 RCV004782045
NM_000249.4(MLH1):c.245C>T (p.Thr82Ile)	SNV Germline	Chr3:37000992	Pathogenic	Hereditary cancer-predisposing syndrome Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colon cancer Condition: not provided	Reviewed By Expert Panel	CA009423	rs_63750005	8 SubmittersRCV000222555 RCV000075604 RCV000630024 RCV000659867 RCV001778703 RCV003477470
NM_000249.4(MLH1):c.250A>G (p.Lys84Glu)	SNV Germline	Chr3:37000997	Likely pathogenic	Hereditary cancer-predisposing syndrome Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Carcinoma of colon Colorectal cancer, hereditary nonpolyposis, type 2 Condition: not provided	Reviewed By Expert Panel	CA009442	rs_63750641	8 SubmittersRCV002433575 RCV000075606 RCV001201354 RCV001353981 RCV003451121 RCV001269582

NM_017547.4(FOXRED1):c.694C>T (p.Gln232Ter)

SNV
Germline

Chr11:126275389

Pathogenic

Mitochondrial complex I deficiency, nuclear type 19
Condition: not provided
Leigh syndrome
FOXRED1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA113792

rs_267606829

6 SubmittersRCV000000015 RCV000578659 RCV001194045 RCV003390625

NM_018344.6(SLC29A3):c.1279G>A (p.Gly427Ser)

SNV
Germline

Chr10:71362459

Pathogenic

H syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA114349

rs_121912583

6 SubmittersRCV000000593 RCV002272004

NM_018344.6(SLC29A3):c.1330G>T (p.Glu444Ter)

SNV
Germline

Chr10:71362510

Pathogenic/Likely pathogenic

H syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA114350

rs_267607056

5 SubmittersRCV000000594 RCV000413820

NM_018344.6(SLC29A3):c.1309G>A (p.Gly437Arg)

SNV
Germline

Chr10:71362489

Pathogenic

H syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA114352

rs_121912584

6 SubmittersRCV000000595 RCV000414664

NM_018344.6(SLC29A3):c.347T>G (p.Met116Arg)

SNV
Germline

Chr10:71344255

Likely pathogenic

H syndrome

Criteria Provided
Single Submitter

CA114353

rs_267607057

2 SubmittersRCV000000598

NM_018344.6(SLC29A3):c.1346C>G (p.Thr449Arg)

SNV
Germline

Chr10:71362526

Pathogenic

H syndrome
SLC29A3-related disorder

Criteria Provided
Single Submitter

CA114354

rs_267607058

2 SubmittersRCV000000599 RCV003398400

NM_001378615.1(CC2D2A):c.1762C>T (p.Gln588Ter)

SNV
Germline

Chr4:15537074

Pathogenic

Meckel syndrome, type 6
Meckel-Gruber syndrome
Joubert syndrome
Meckel syndrome, type 6
Retinitis pigmentosa 93
COACH syndrome 2
Joubert syndrome 9
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA2863751

rs_116358011

4 SubmittersRCV000000778 RCV001385996 RCV005024978 RCV005409592

NM_001378615.1(CC2D2A):c.3364C>T (p.Pro1122Ser)

SNV
Germline

Chr4:15567752

Conflicting classifications of pathogenicity

Joubert syndrome 9
Condition: not provided
COACH syndrome 1
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA114469

rs_118204051

10 SubmittersRCV000000779 RCV000730543 RCV001329602 RCV001851514

NM_001378615.1(CC2D2A):c.4582C>T (p.Arg1528Cys)

SNV
Germline

Chr4:15599614

Pathogenic/Likely pathogenic

Joubert syndrome 9
Condition: not provided
COACH syndrome 2
Meckel syndrome, type 6
Joubert syndrome
Meckel-Gruber syndrome
CC2D2A-related disorder
Joubert syndrome 9
Meckel syndrome, type 6
Retinitis pigmentosa 93
COACH syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA114471

rs_118204052

9 SubmittersRCV000000780 RCV000445290 RCV001269034 RCV003234885 RCV003764503 RCV004532267 RCV005031374

NM_001378615.1(CC2D2A):c.2848C>T (p.Arg950Ter)

SNV
Germline

Chr4:15559183

Pathogenic

Joubert syndrome 9
Condition: not provided
Inborn genetic diseases
Meckel-Gruber syndrome
Joubert syndrome
CC2D2A-related disorder
Meckel syndrome, type 6
Retinitis pigmentosa 93
COACH syndrome 2
Joubert syndrome 9

Criteria Provided
Multiple Submitters
No Conflicts

CA114473

rs_118204053

9 SubmittersRCV000000781 RCV000727257 RCV001266487 RCV002512617 RCV004528061 RCV005222657

NM_001378615.1(CC2D2A):c.3145C>T (p.Arg1049Ter)

SNV
Germline

Chr4:15563485

Pathogenic

COACH syndrome 2
Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome 9/15, digenic
Condition: not provided
Meckel syndrome, type 6
Retinitis pigmentosa 93
COACH syndrome 2
Joubert syndrome 9
See cases
Inborn genetic diseases
Meckel syndrome, type 6
COACH syndrome 2
Joubert syndrome 9

Criteria Provided
Multiple Submitters
No Conflicts

CA129544

rs_386833750

8 SubmittersRCV000000783 RCV000199602 RCV000023922 RCV000578695 RCV002476904 RCV002251848 RCV005305943 RCV004795365

NM_001378615.1(CC2D2A):c.3347C>T (p.Thr1116Met)

SNV
Germline

Chr4:15567735

Conflicting classifications of pathogenicity

COACH syndrome 2
Condition: not provided
Joubert syndrome 9
Meckel-Gruber syndrome
Joubert syndrome
Meckel syndrome, type 6
Retinitis pigmentosa 93
COACH syndrome 2
Joubert syndrome 9

Criteria Provided
Conflicting Classifications

CA210343

rs_267606709

6 SubmittersRCV000000784 RCV000729670 RCV000201781 RCV001383566 RCV005031375

NM_015141.4(GPD1L):c.370A>G (p.Ile124Val)

SNV
Germline

Chr3:32140231

Conflicting classifications of pathogenicity

Brugada syndrome 2
SUDDEN INFANT DEATH SYNDROME
Long QT syndrome
Primary familial hypertrophic cardiomyopathy
not specified
Condition: not provided
Cardiovascular phenotype
Hypertrophic cardiomyopathy
Brugada syndrome
GPD1L-related disorder

Criteria Provided
Conflicting Classifications

CA213881

rs_72552293

18 SubmittersRCV000000824 RCV000029945 RCV000157243 RCV000170920 RCV000203752 RCV000620285 RCV000852958 RCV001081825 RCV003952333

NM_015272.5(RPGRIP1L):c.1843A>C (p.Thr615Pro)

SNV
Germline

Chr16:53652844

Pathogenic

Joubert syndrome 7
Joubert syndrome
Meckel-Gruber syndrome
Condition: not provided
Joubert syndrome
Joubert syndrome 7
COACH syndrome 3
Meckel syndrome, type 5
RPGRIP1L-related disorder
Joubert syndrome and related disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA251689

rs_121918198

8 SubmittersRCV000001124 RCV000689745 RCV000393725 RCV001271279 RCV002482812 RCV004528062 RCV003155007

NM_015272.5(RPGRIP1L):c.757C>T (p.Gln253Ter)

SNV
Germline

Chr16:53686452

Pathogenic

Joubert syndrome 7
Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome
Joubert syndrome and related disorders
Joubert syndrome 7
Meckel syndrome, type 5
COACH syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA251691

rs_121918199

5 SubmittersRCV000001125 RCV001067857 RCV001831500 RCV003398409 RCV005016221

NM_015272.5(RPGRIP1L):c.2614C>T (p.Gln872Ter)

SNV
Germline

Chr16:53645694

Pathogenic/Likely pathogenic

Meckel syndrome, type 5
Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
COACH syndrome 1
Joubert syndrome 7
Meckel syndrome, type 5
RPGRIP1L-related disorder
Joubert syndrome
Joubert syndrome 7
Meckel syndrome, type 5
COACH syndrome 3
Meckel-Gruber syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA130771

rs_121918203

7 SubmittersRCV000033207 RCV000790748 RCV001059320 RCV000762961 RCV000779628 RCV001831501 RCV005007803 RCV004017218

NM_015272.5(RPGRIP1L):c.2050C>T (p.Gln684Ter)

SNV
Germline

Chr16:53652637

Pathogenic/Likely pathogenic

Joubert syndrome 7
Joubert syndrome 7
COACH syndrome 1
Meckel syndrome, type 5
Meckel-Gruber syndrome
Joubert syndrome
Condition: not provided
Joubert syndrome
Abnormality of prenatal development or birth
COACH syndrome 3
Joubert syndrome 7
Meckel syndrome, type 5

Criteria Provided
Multiple Submitters
No Conflicts

CA251696

rs_121918204

10 SubmittersRCV000001131 RCV000762962 RCV000824619 RCV001781157 RCV001271277 RCV001813927 RCV005007804

NM_015272.5(RPGRIP1L):c.2413C>T (p.Arg805Ter)

SNV
Germline

Chr16:53645895

Pathogenic

COACH syndrome 3
Joubert syndrome 7
Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome 7
Meckel syndrome, type 5
COACH syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA210648

rs_145665129

7 SubmittersRCV000001134 RCV000201645 RCV000733537 RCV001831502 RCV001382825 RCV002490288

NM_015272.5(RPGRIP1L):c.1975T>C (p.Ser659Pro)

SNV
Germline

Chr16:53652712

Pathogenic

COACH syndrome 3
Joubert syndrome 7

Criteria Provided
Single Submitter

CA210651

rs_267607020

2 SubmittersRCV000001135 RCV000201757

NM_153704.6(TMEM67):c.1538A>G (p.Tyr513Cys)

SNV
Germline

Chr8:93791282

Pathogenic/Likely pathogenic

Joubert syndrome 6
COACH syndrome 1
Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome and related disorders
6 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA210653

rs_137853107

5 SubmittersRCV000001436 RCV000001437 RCV001851544 RCV004585980 RCV005049307

NM_153704.6(TMEM67):c.1961-2A>C

SNV
Germline

Chr8:93797329

Pathogenic

COACH syndrome 1
Joubert syndrome 6

Criteria Provided
Single Submitter

CA212768

rs_758948621

2 SubmittersRCV000001441 RCV000201576

NM_153704.6(TMEM67):c.958A>T (p.Ser320Cys)

SNV
Germline

Chr8:93780962

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 14, modifier of
Nephronophthisis
Condition: not provided
Joubert syndrome 6
RHYNS syndrome
Meckel-Gruber syndrome
Joubert syndrome
Meckel syndrome, type 3
Nephronophthisis 11
COACH syndrome 1
not specified
TMEM67-related disorder
6 conditions

Criteria Provided
Conflicting Classifications

CA114968

rs_111619594

15 SubmittersRCV000001444 RCV000234830 RCV000725926 RCV001158404 RCV001198570 RCV001085857 RCV001158405 RCV001158406 RCV001333012 RCV003488318 RCV004528064 RCV005394103

NM_153704.6(TMEM67):c.2498T>C (p.Ile833Thr)

SNV
Germline

Chr8:93808898

Pathogenic/Likely pathogenic

COACH syndrome 1
Joubert syndrome 6
Meckel syndrome, type 3
Joubert syndrome and related disorders
6 conditions
Nephronophthisis 11
COACH syndrome 1
Joubert syndrome 6
RHYNS syndrome
Joubert syndrome
Meckel-Gruber syndrome
Condition: not provided
TMEM67-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA210657

rs_267607119

13 SubmittersRCV000001445 RCV000001446 RCV000995902 RCV001804708 RCV001536092 RCV005357054 RCV000821785 RCV001310635 RCV003315221

NM_153704.6(TMEM67):c.2556+1G>T

SNV
Germline

Chr8:93808957

Pathogenic

COACH syndrome 1
Joubert syndrome 6

Criteria Provided
Single Submitter

CA212769

rs_786200867

2 SubmittersRCV000001447 RCV000201565

NM_153704.6(TMEM67):c.312+5G>A

SNV
Germline

Chr8:93755871

Pathogenic

COACH syndrome 1
Meckel-Gruber syndrome
Joubert syndrome
6 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA212770

rs_786200868

3 SubmittersRCV000001448 RCV001388801 RCV002496229

NM_153704.6(TMEM67):c.1769T>C (p.Phe590Ser)

SNV
Germline

Chr8:93795503

Pathogenic/Likely pathogenic

COACH syndrome 1
Joubert syndrome 6
Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
6 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA210661

rs_267607115

8 SubmittersRCV000001449 RCV000201677 RCV001781164 RCV001851546 RCV005049308

NM_153704.6(TMEM67):c.1843T>C (p.Cys615Arg)

SNV
Germline

Chr8:93795970

Pathogenic/Likely pathogenic

Joubert syndrome 6
Nephronophthisis 11
Nephronophthisis
TMEM67-related disorder
Meckel-Gruber syndrome
Joubert syndrome
Oligohydramnios
Joubert syndrome
Renal cyst
Condition: not provided
Inborn genetic diseases
14 conditions
Joubert syndrome 6
COACH syndrome 1
Bardet-Biedl syndrome 14
Nephronophthisis 11
Meckel syndrome, type 3
RHYNS syndrome
6 conditions
Joubert syndrome 6
COACH syndrome 1
RHYNS syndrome
Nephronophthisis 11

Criteria Provided
Multiple Submitters
No Conflicts

CA114977

rs_201893408

17 SubmittersRCV000001452 RCV000001451 RCV000234823 RCV000283682 RCV000534533 RCV000415055 RCV000479077 RCV000623857 RCV000627004 RCV000763610 RCV001197497 RCV005041963 RCV005357055

NM_174889.5(NDUFAF2):c.139C>T (p.Arg47Ter)

SNV
Germline

Chr5:61073136

Pathogenic/Likely pathogenic

Mitochondrial complex I deficiency, nuclear type 10
Mitochondrial complex I deficiency, nuclear type 1
Inborn genetic diseases
Leigh syndrome
not specified
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA115096

rs_137852863

7 SubmittersRCV000001661 RCV000779476 RCV000624428 RCV000679870 RCV000781647 RCV001582459

NM_000251.3(MSH2):c.1865C>T (p.Pro622Leu)

SNV
Germline

Chr2:47475130

Pathogenic

Lynch syndrome 1
Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided

Reviewed By Expert Panel

CA019478

rs_28929483

6 SubmittersRCV000001823 RCV000076307 RCV000566777 RCV000630204 RCV002460877

NM_000251.3(MSH2):c.1216C>T (p.Arg406Ter)

SNV
Germline

Chr2:47429881

Pathogenic

Lynch syndrome 1
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Carcinoma of colon
Lynch syndrome 1
Muir-Torré syndrome
Mismatch repair cancer syndrome 1
Gastric cancer

Reviewed By Expert Panel

CA017519

rs_63751108

26 SubmittersRCV000001825 RCV000030238 RCV000524334 RCV000162489 RCV000202291 RCV000677885 RCV000763491 RCV003162204

NM_000251.3(MSH2):c.1915C>T (p.His639Tyr)

SNV
Germline

Chr2:47475180

Pathogenic

Lynch syndrome 1
Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer

Reviewed By Expert Panel

CA019553

rs_28929484

9 SubmittersRCV000001826 RCV000030246 RCV000202104 RCV000491611 RCV001204094 RCV003987305

NM_000251.3(MSH2):c.1801C>T (p.Gln601Ter)

SNV
Germline

Chr2:47475066

Pathogenic

Muir-Torré syndrome
Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1

Reviewed By Expert Panel

CA019344

rs_63750047

10 SubmittersRCV000001828 RCV000076290 RCV000491732 RCV000809096 RCV000428558 RCV003450612

NM_000251.3(MSH2):c.1571G>C (p.Arg524Pro)

SNV
Germline

Chr2:47466718

Likely pathogenic

Lynch syndrome 1
Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary nonpolyposis colon cancer

Reviewed By Expert Panel

CA018643

rs_63751207

11 SubmittersRCV000001829 RCV000076197 RCV000165648 RCV000531855 RCV000256140 RCV001251063

NM_000251.3(MSH2):c.1906G>C (p.Ala636Pro)

SNV
Germline

Chr2:47475171

Pathogenic

Lynch syndrome
Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Carcinoma of colon

Reviewed By Expert Panel

CA019533

rs_63750875

22 SubmittersRCV000030245 RCV000376757 RCV000130428 RCV000202220 RCV000763493 RCV000524366 RCV001353396

NM_024426.6(WT1):c.1399C>T (p.Arg467Trp)

SNV
Germline

Chr11:32392020

Pathogenic/Likely pathogenic

Drash syndrome
Meacham syndrome
Nephrotic syndrome, type 4
Wilms tumor 1
Drash syndrome
11p partial monosomy syndrome
Frasier syndrome
Condition: not provided
Steroid-resistant nephrotic syndrome
Nephrotic range proteinuria
Kidney disorder
Wilms tumor 1
WT1-related disorder
6 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA016324

rs_121907900

15 SubmittersRCV000003656 RCV000003657 RCV000003658 RCV000467701 RCV000484426 RCV001003819 RCV002293973 RCV001290016 RCV004739285 RCV005003322

NM_024426.6(WT1):c.1316G>A (p.Arg439His)

SNV
Germline

Chr11:32392704

Pathogenic

Drash syndrome
Condition: not provided
Wilms tumor 1
Drash syndrome
Frasier syndrome
Nephrotic syndrome, type 4
Wilms tumor 1
Drash syndrome
11p partial monosomy syndrome
Frasier syndrome
Nephrotic syndrome, type 4
Wilms tumor 1
8 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA016285

rs_121907901

9 SubmittersRCV000003659 RCV000484493 RCV001250546 RCV001851622 RCV002243617 RCV003147274 RCV002496247

NM_024426.6(WT1):c.1406A>G (p.Asp469Gly)

SNV
Germline

Chr11:32392013

Likely pathogenic

Drash syndrome
Wilms tumor 1
Drash syndrome
11p partial monosomy syndrome
Frasier syndrome

Criteria Provided
Single Submitter

CA016344

rs_121907902

2 SubmittersRCV000003660 RCV001376854

NM_024426.6(WT1):c.1405G>A (p.Asp469Asn)

SNV
Germline

Chr11:32392014

Pathogenic

Drash syndrome
Nephrotic syndrome, type 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA016338

rs_28941778

3 SubmittersRCV000003661 RCV000003662 RCV003322746

NM_024426.6(WT1):c.1400G>C (p.Arg467Pro)

SNV
Germline

Chr11:32392019

Pathogenic

Drash syndrome
WT1-related disorder

Criteria Provided
Single Submitter

CA016330

rs_121907903

2 SubmittersRCV000003663 RCV004547456

NM_024426.6(WT1):c.1208G>A (p.Cys403Tyr)

SNV
Germline

Chr11:32396313

Pathogenic

Drash syndrome

No Assertion Criteria Provided

CA016258

rs_121907904

1 SubmittersRCV000003664

NM_024426.6(WT1):c.1447+5G>A

SNV
Germline

Chr11:32391967

Pathogenic

Drash syndrome
Frasier syndrome
Familial idiopathic steroid-resistant nephrotic syndrome
Nephrotic syndrome, type 4
Drash syndrome
Wilms tumor 1
11p partial monosomy syndrome
Frasier syndrome
Wilms tumor 1
Condition: not provided
WT1-related disorder
6 conditions
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA016607

rs_587776576

21 SubmittersRCV000003665 RCV000030876 RCV000208283 RCV000589623 RCV000705142 RCV001290018 RCV001288155 RCV004547457 RCV005003323 RCV005520217

NM_024426.6(WT1):c.1387C>T (p.Arg463Ter)

SNV
Germline

Chr11:32392032

Pathogenic

Wilms tumor 1
Frasier syndrome
Wilms tumor 1
Drash syndrome
11p partial monosomy syndrome
Frasier syndrome
Condition: not provided
Focal segmental glomerulosclerosis
6 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA016309

rs_121907909

7 SubmittersRCV000003666 RCV000030877 RCV000471023 RCV000521800 RCV002293974 RCV005003324

NM_024426.6(WT1):c.1348C>T (p.His450Tyr)

SNV
Germline

Chr11:32392672

Pathogenic/Likely pathogenic

Nephrotic syndrome, type 4
Drash syndrome
Wilms tumor 1
Drash syndrome
11p partial monosomy syndrome
Frasier syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA016298

rs_28942089

3 SubmittersRCV000003668 RCV000003667 RCV002512715

NM_024426.6(WT1):c.1297T>G (p.Cys433Gly)

SNV
Germline

Chr11:32392723

Likely pathogenic

Drash syndrome
Wilms tumor 1
Drash syndrome
11p partial monosomy syndrome
Frasier syndrome

Criteria Provided
Single Submitter

CA016265

rs_121907905

2 SubmittersRCV000003669 RCV002512716

NM_024426.6(WT1):c.1303C>T (p.Arg435Ter)

SNV
Germline

Chr11:32392717

Pathogenic

Drash syndrome
Wilms tumor 1
Wilms tumor 1
Drash syndrome
11p partial monosomy syndrome
Frasier syndrome
8 conditions
Condition: not provided
6 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA016273

rs_121907906

8 SubmittersRCV000003670 RCV000003671 RCV000685465 RCV000762840 RCV001565696 RCV004795369

NM_024426.6(WT1):c.1338C>G (p.His446Gln)

SNV
Germline

Chr11:32392682

Pathogenic

Drash syndrome
Wilms tumor 1
Drash syndrome
11p partial monosomy syndrome
Frasier syndrome

Criteria Provided
Single Submitter

CA016292

rs_121907907

2 SubmittersRCV000003672 RCV005222665

NM_024426.6(WT1):c.1447+4C>T

SNV
Germline

Chr11:32391968

Pathogenic/Likely pathogenic

Frasier syndrome
Nephrotic syndrome, type 4
Familial idiopathic steroid-resistant nephrotic syndrome
Condition: not provided
Drash syndrome
Wilms tumor 1
11p partial monosomy syndrome
Frasier syndrome
Wilms tumor 1
WT1-related disorder
6 conditions
Nephrotic range proteinuria

Criteria Provided
Multiple Submitters
No Conflicts

CA016600

rs_587776577

17 SubmittersRCV000003674 RCV000003675 RCV000157584 RCV000489749 RCV001216104 RCV001290017 RCV004547458 RCV005049315 RCV001003818

NM_024426.6(WT1):c.1315C>T (p.Arg439Cys)

SNV
Germline

Chr11:32392705

Pathogenic

Meacham syndrome
Condition: not provided
Wilms tumor 1
Drash syndrome
11p partial monosomy syndrome
Frasier syndrome
Nephrotic syndrome, type 4

Criteria Provided
Multiple Submitters
No Conflicts

CA016279

rs_121907910

5 SubmittersRCV000003680 RCV001288153 RCV005222666 RCV005252662

NM_001079866.2(BCS1L):c.166C>T (p.Arg56Ter)

SNV
Germline

Chr2:218661153

Pathogenic

Mitochondrial complex III deficiency nuclear type 1
Condition: not provided
BCS1L-related disorder
GRACILE syndrome
Mitochondrial complex III deficiency nuclear type 1
Pili torti-deafness syndrome
Leigh syndrome
GRACILE syndrome
Pili torti-deafness syndrome
Mitochondrial complex III deficiency nuclear type 1
Pili torti-deafness syndrome
GRACILE syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA118015

rs_121908576

19 SubmittersRCV000006544 RCV000195481 RCV000260660 RCV000576565 RCV000763069 RCV003472989 RCV005016249

NM_001079866.2(BCS1L):c.548G>A (p.Arg183His)

SNV
Germline

Chr2:218661846

Pathogenic

Pili torti-deafness syndrome
GRACILE syndrome
Mitochondrial complex III deficiency nuclear type 1
Mitochondrial complex III deficiency nuclear type 1
GRACILE syndrome
Pili torti-deafness syndrome
Condition: not provided
Leigh syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA118021

rs_121908577

7 SubmittersRCV000006545 RCV001835622 RCV002243624 RCV002476937 RCV002512833 RCV000779835

NM_002495.4(NDUFS4):c.316C>T (p.Arg106Ter)

SNV
Germline

Chr5:53646371

Pathogenic

Mitochondrial complex I deficiency, nuclear type 1
Mitochondrial complex I deficiency
Leigh syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA118548

rs_104893898

8 SubmittersRCV000735424 RCV000578296 RCV002307359 RCV002298437

NM_006941.4(SOX10):c.939C>G (p.Tyr313Ter)

SNV
Germline

Chr22:37973957

Pathogenic

PCWH syndrome

No Assertion Criteria Provided

CA118759

rs_74315516

1 SubmittersRCV000007822

NM_006941.4(SOX10):c.752C>A (p.Ser251Ter)

SNV
Germline

Chr22:37974144

Pathogenic

PCWH syndrome
Condition: not provided

Criteria Provided
Single Submitter

CA118762

rs_74315518

2 SubmittersRCV000007823 RCV005089203

NM_006941.4(SOX10):c.748C>T (p.Gln250Ter)

SNV
Germline

Chr22:37974148

Pathogenic

PCWH syndrome

No Assertion Criteria Provided

CA118772

rs_74315521

1 SubmittersRCV000007828

NM_002496.4(NDUFS8):c.236C>T (p.Pro79Leu)

SNV
Germline

Chr11:68033147

Likely pathogenic

Mitochondrial complex I deficiency, nuclear type 2
Condition: not provided
Leigh syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA118853

rs_28939679

3 SubmittersRCV000007941 RCV000442702 RCV000762861

NM_024407.5(NDUFS7):c.364G>A (p.Val122Met)

SNV
Germline

Chr19:1391006

Pathogenic/Likely pathogenic

Mitochondrial complex I deficiency, nuclear type 3
Condition: not provided
Leigh syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA118993

rs_104894705

12 SubmittersRCV000008120 RCV000197296 RCV003155020

NM_024407.5(NDUFS7):c.17-1167C>G

SNV
Germline

Chr19:1386644

Likely pathogenic

Mitochondrial complex I deficiency, nuclear type 3
Leigh syndrome

Criteria Provided
Single Submitter

CA891844320

rs_1568985256

2 SubmittersRCV000008122 RCV002265550

NM_004168.4(SDHA):c.1660C>T (p.Arg554Trp)

SNV
Germline

Chr5:251100

Likely pathogenic

Mitochondrial complex II deficiency, nuclear type 1
Hereditary cancer-predisposing syndrome
Mitochondrial complex II deficiency, nuclear type 1
Pheochromocytoma/paraganglioma syndrome 5
Leigh syndrome
Mitochondrial complex II deficiency, nuclear type 1
Neurodegeneration with ataxia and late-onset optic atrophy
Pheochromocytoma/paraganglioma syndrome 5
Dilated cardiomyopathy 1GG
Condition: not provided
Dilated cardiomyopathy 1GG
Diffuse midline glioma, H3 K27-altered
SDHA-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA119879

rs_9809219

11 SubmittersRCV000009281 RCV000573113 RCV000456631 RCV000790927 RCV005031432 RCV001818148 RCV003473060 RCV003315222 RCV005417425

NM_000535.7(PMS2):c.400C>T (p.Arg134Ter)

SNV
Germline

Chr7:6002590

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Mismatch repair cancer syndrome 4
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Mismatch repair cancer syndrome 1
Lynch syndrome 4
Lynch syndrome 1
Gastric cancer
Lynch syndrome 4
Mismatch repair cancer syndrome 4

Reviewed By Expert Panel

CA012083

rs_63750871

21 SubmittersRCV000076872 RCV000115695 RCV000009815 RCV000212842 RCV000524474 RCV001196700 RCV000576870 RCV001310204 RCV003162222 RCV005042023

NM_000535.7(PMS2):c.2404C>T (p.Arg802Ter)

SNV
Germline

Chr7:5977629

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Mismatch repair cancer syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Condition: not provided
Mismatch repair cancer syndrome 4
Rhabdomyosarcoma
Hereditary nonpolyposis colon cancer
Lynch syndrome 4
Mismatch repair cancer syndrome 4
PMS2-related disorder
Inherited MMR deficiency (Lynch syndrome)

Reviewed By Expert Panel

CA011441

rs_63751466

23 SubmittersRCV000129304 RCV000409056 RCV000009818 RCV000524467 RCV000076858 RCV000413126 RCV001267876 RCV001257544 RCV002265552 RCV005031433 RCV003415681 RCV004691719

NM_000535.7(PMS2):c.1882C>T (p.Arg628Ter)

SNV
Germline

Chr7:5986883

Pathogenic

Lynch syndrome 4
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colon cancer

Reviewed By Expert Panel

CA010399

rs_63750451

18 SubmittersRCV000009823 RCV000076834 RCV000524451 RCV000220439 RCV000218575 RCV001193819

NM_000535.7(PMS2):c.137G>T (p.Ser46Ile)

SNV
Germline

Chr7:6005918

Likely pathogenic

Mismatch repair cancer syndrome 1
Lynch syndrome
Lynch syndrome 4
Hereditary cancer-predisposing syndrome
Condition: not provided
Pituitary carcinoma
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Mismatch repair cancer syndrome 4
Lynch syndrome 1
Breast and/or ovarian cancer
Lynch syndrome 4
Mismatch repair cancer syndrome 4
PMS2-related disorder
PMS2-related cancer disorders
Inherited MMR deficiency (Lynch syndrome)
Dilated cardiomyopathy 1G
Hypertrophic cardiomyopathy 9

Reviewed By Expert Panel

CA009597

rs_121434629

48 SubmittersRCV000009826 RCV000076807 RCV000056324 RCV000115657 RCV000200994 RCV000722017 RCV000524432 RCV001353458 RCV001267878 RCV001804723 RCV001797999 RCV002476951 RCV003390667 RCV003335023 RCV004691720 RCV004555831

NM_000335.5(SCN5A):c.3305C>A (p.Ser1102Tyr)

SNV
Germline

Chr3:38579416

Conflicting classifications of pathogenicity

Long QT syndrome 3, acquired, susceptibility to
SUDDEN INFANT DEATH SYNDROME
Condition: not provided
not specified
Brugada syndrome
Progressive familial heart block, type 1A
Ventricular fibrillation, paroxysmal familial, type 1
Sick sinus syndrome 1
Dilated cardiomyopathy 1E
Congenital long QT syndrome
Cardiovascular phenotype
Long QT syndrome 3
Brugada syndrome 1
Primary dilated cardiomyopathy
Cardiomyopathy
Cardiac arrhythmia
8 conditions

Criteria Provided
Conflicting Classifications

CA017028

rs_7626962

23 SubmittersRCV000009992 RCV000009993 RCV000058563 RCV000041615 RCV000204216 RCV000304064 RCV000368908 RCV000396768 RCV000274325 RCV000363449 RCV000621429 RCV000755696 RCV001094834 RCV003125829 RCV003149567 RCV001841239 RCV002504776

NC_012920.1(MT-TV):m.1624C>T

SNV
Germline

ChrMT:1624

Likely pathogenic

Leigh syndrome
MELAS syndrome
Leigh syndrome, mitochondrial
Mitochondrial disease

Reviewed By Expert Panel

CA120537

rs_199476144

5 SubmittersRCV000010158 RCV000850667 RCV004554592 RCV005415393

NC_012920.1(MT-TK):m.8344A>G

SNV
Germline

ChrMT:8344

Pathogenic

Leigh syndrome
MERRF syndrome
Parkinson disease, mitochondrial
Condition: not provided
Mitochondrial disease
MELAS syndrome
MT-TK-related mitochondrial disorder
MT-TK-related disorder
Complex hereditary spastic paraplegia

Reviewed By Expert Panel

CA254836

rs_118192098

14 SubmittersRCV000010193 RCV000010192 RCV000010194 RCV000224965 RCV000495310 RCV000850950 RCV001729345 RCV003492290 RCV004766996

NC_012920.1(MT-TK):m.8363G>A

SNV
Germline

ChrMT:8363

Likely pathogenic

Cardiomyopathy and Deafness
Leigh syndrome
MERRF syndrome
MELAS syndrome
Mitochondrial disease

Reviewed By Expert Panel

CA120555

rs_118192100

5 SubmittersRCV000010197 RCV000144004 RCV000192053 RCV000850961 RCV003162232

NC_012920.1(MT-TL1):m.3243A>G

SNV
Germline/somatic

ChrMT:3243

Pathogenic/Likely pathogenic

MELAS syndrome
Cyclical vomiting syndrome
Age related macular degeneration 2
Mitochondrial complex IV deficiency, nuclear type 1
3-methylglutaconic aciduria type 1
MERRF/MELAS overlap syndrome
Diabetes-deafness syndrome maternally transmitted
Leigh syndrome
Condition: not provided
Mitochondrial disease
Short stature
Stroke disorder
Sensorineural hearing loss disorder
Glucose intolerance
MELAS syndrome
MERRF syndrome
Cerebral palsy
not specified
See cases
Charcot-Marie-Tooth disease, axonal, mitochondrial form, 1
Maternally-inherited mitochondrial myopathy
MELAS syndrome
Leigh Syndrome (mtDNA mutation)
Hypertrophic cardiomyopathy
Diabetes-deafness syndrome maternally transmitted
Auditory neuropathy spectrum disorder
Leigh syndrome, mitochondrial

Criteria Provided
Multiple Submitters
No Conflicts

CA120560

rs_199474657

34 SubmittersRCV000010206 RCV000010210 RCV000010209 RCV000010211 RCV000022901 RCV000022902 RCV000032997 RCV000143997 RCV000224855 RCV000495738 RCV000626561 RCV000763623 RCV001794441 RCV002285005 RCV002287327 RCV002250458 RCV004766997 RCV003325938 RCV003984803 RCV004554593

NC_012920.1(MT-ATP6):m.8993T>C

SNV
Germline

ChrMT:8993

Pathogenic

Ataxia and polyneuropathy, adult-onset
Leigh syndrome
Mitochondrial disease
NARP syndrome
Condition: not provided
Mitochondrial complex 5 (ATP synthase) deficiency, mitochondrial type 1
Leber optic atrophy

Reviewed By Expert Panel

CA120596

rs_199476133

11 SubmittersRCV000010276 RCV000010275 RCV000495030 RCV000854390 RCV001268873 RCV000754647 RCV002247300

NC_012920.1(MT-ATP6):m.9176T>C

SNV
Germline

ChrMT:9176

Pathogenic

Striatonigral degeneration, infantile, mitochondrial
Leigh syndrome
Mitochondrial complex 5 (ATP synthase) deficiency, mitochondrial type 1
Condition: not provided
Leber optic atrophy
Leigh syndrome, mitochondrial
Maternally-inherited spastic paraplegia
Mitochondrial disease
NARP syndrome

Reviewed By Expert Panel

CA120597

rs_199476135

14 SubmittersRCV000010278 RCV000010279 RCV000754652 RCV001027501 RCV001542707 RCV004554599 RCV002251425 RCV002260585 RCV004766998

NC_012920.1(MT-ATP6):m.9185T>C

SNV
Germline

ChrMT:9185

Pathogenic

Leigh syndrome
Charcot-Marie-Tooth disease
Mitochondrial complex 5 (ATP synthase) deficiency, mitochondrial type 1
Condition: not provided
Mitochondrial disease
Leber optic atrophy
Mitochondrial DNA-Associated Leigh Syndrome and NARP
NARP syndrome
Charcot-Marie-Tooth disease, type IA

Reviewed By Expert Panel

CA340928

rs_199476138

16 SubmittersRCV000010282 RCV000240612 RCV000754648 RCV001267926 RCV000495689 RCV001542709 RCV002267606 RCV004760325 RCV003224857

NC_012920.1(MT-ATP6):m.9176T>G

SNV
Germline

ChrMT:9176

Likely pathogenic

Leigh syndrome
Mitochondrial complex 5 (ATP synthase) deficiency, mitochondrial type 1
Condition: not provided
Leber optic atrophy
Mitochondrial disease

Reviewed By Expert Panel

CA340929

rs_199476135

6 SubmittersRCV000010285 RCV000754649 RCV001543462 RCV001542708 RCV002221473

NC_012920.1(MT-CO1):m.6480G>A

SNV
Germline

ChrMT:6480

Conflicting classifications of pathogenicity

Mitochondrial complex IV deficiency, nuclear type 1
Leigh syndrome
Mitochondrial disease

Criteria Provided
Conflicting Classifications

CA120611

rs_199476128

3 SubmittersRCV000010304 RCV000853974 RCV003985072

NC_012920.1(MT-CYB):m.15242G>A

SNV
Germline

ChrMT:15242

Likely pathogenic

Mitochondrial encephalomyopathy
Leigh syndrome
Mitochondrial disease

Reviewed By Expert Panel

CA120618

rs_207459999

3 SubmittersRCV000010318 RCV000855252 RCV004691092

NC_012920.1(MT-ND6):m.14484T>C

SNV
Germline

ChrMT:14484

Pathogenic

Leber optic atrophy
Leigh syndrome
Condition: not provided
Mitochondrial disease
Retinal dystrophy
Optic atrophy

Reviewed By Expert Panel

CA340932

rs_199476104

14 SubmittersRCV000010325 RCV000144018 RCV000223709 RCV003162238 RCV004814873 RCV004814874

NC_012920.1(MT-ND6):m.14453G>A

SNV
Germline

ChrMT:14453

Likely pathogenic

MELAS syndrome
Leigh syndrome
Mitochondrial disease

Reviewed By Expert Panel

CA254853

rs_199476107

4 SubmittersRCV000010331 RCV000855109 RCV002260589

NC_012920.1(MT-ND6):m.14487T>C

SNV
Germline

ChrMT:14487

Pathogenic

Striatal necrosis, bilateral, with dystonia
Leigh syndrome
Leigh syndrome due to mitochondrial complex I deficiency
Mitochondrial disease
MELAS syndrome
Leber optic atrophy

Reviewed By Expert Panel

CA120627

rs_199476109

6 SubmittersRCV000010334 RCV000144020 RCV000010333 RCV003162239 RCV005252673 RCV002247307

NC_012920.1(MT-ND5):m.12706T>C (p.Phe124Leu)

SNV
Germline

ChrMT:12706

Likely pathogenic

Leigh syndrome due to mitochondrial complex I deficiency
Leigh syndrome
Leber optic atrophy
Mitochondrial disease

Reviewed By Expert Panel

CA120628

rs_267606893

5 SubmittersRCV000010338 RCV000144015 RCV002247308 RCV002260591

NC_012920.1(MT-ND5):m.13513G>A

SNV
Germline

ChrMT:13513

Pathogenic

MELAS syndrome
Leigh syndrome due to mitochondrial complex I deficiency
Leigh syndrome
Condition: not provided
Mitochondrial disease

Reviewed By Expert Panel

CA120632

rs_267606897

11 SubmittersRCV000010345 RCV000010346 RCV000144016 RCV000224472 RCV000494941

NC_012920.1(MT-ND5):m.13042G>A

SNV
Germline

ChrMT:13042

Likely pathogenic

MELAS syndrome
MERRF syndrome
Leigh syndrome due to mitochondrial complex I deficiency
Leber optic atrophy
Mitochondrial disease

Reviewed By Expert Panel

CA120633

rs_267606898

5 SubmittersRCV000010347 RCV000010348 RCV000010349 RCV000854885 RCV002260592

NC_012920.1(MT-ND4):m.11777C>A

SNV
Germline

ChrMT:11777

Likely pathogenic

Mitochondrial complex I deficiency
Leber optic atrophy
Leigh syndrome
Mitochondrial disease
Leber optic atrophy and dystonia

Reviewed By Expert Panel

CA120636

rs_28384199

5 SubmittersRCV000010357 RCV000854746 RCV000144013 RCV002260594 RCV005252675

NC_012920.1(MT-ND3):m.10191T>C

SNV
Germline

ChrMT:10191

Pathogenic

Mitochondrial complex I deficiency, mitochondrial type 1
Leigh syndrome
Mitochondrial disease
Mitochondrial complex I deficiency

Reviewed By Expert Panel

CA120637

rs_267606890

5 SubmittersRCV000010358 RCV000144010 RCV002291212 RCV001542636

NC_012920.1(MT-ND3):m.10158T>C

SNV
Germline

ChrMT:10158

Pathogenic

Mitochondrial complex I deficiency, mitochondrial type 1
Condition: not provided
Leigh syndrome
Mitochondrial disease

Reviewed By Expert Panel

CA120639

rs_199476117

6 SubmittersRCV000010360 RCV000224598 RCV000144009 RCV001796716

NC_012920.1(MT-ND3):m.10197G>A

SNV
Germline

ChrMT:10197

Pathogenic

Leber optic atrophy and dystonia
Mitochondrial complex I deficiency, mitochondrial type 1
Mitochondrial DNA-Associated Leigh Syndrome and NARP
Leigh syndrome
not specified
Mitochondrial disease
Condition: not provided
See cases
Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy

Reviewed By Expert Panel

CA120640

rs_267606891

11 SubmittersRCV000010363 RCV000010362 RCV002247309 RCV000144011 RCV002285008 RCV002291213 RCV000507278 RCV004017234 RCV004767000

NC_012920.1(MT-ND1):m.3460G>A

SNV
Germline

ChrMT:3460

Pathogenic

Leber optic atrophy
Leigh syndrome
Condition: not provided
MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 3
Optic atrophy
Mitochondrial disease
MELAS syndrome

Reviewed By Expert Panel

CA120646

rs_199476118

11 SubmittersRCV000010370 RCV000143998 RCV000757484 RCV000735416 RCV004814877 RCV003319165 RCV005252676

NM_000377.3(WAS):c.257G>T (p.Arg86Leu)

SNV
Germline

ChrX:48684407

Pathogenic

Wiskott-Aldrich syndrome

No Assertion Criteria Provided

CA341001

rs_132630268

1 SubmittersRCV000011863

NM_000377.3(WAS):c.257G>A (p.Arg86His)

SNV
Germline

ChrX:48684407

Pathogenic

Wiskott-Aldrich syndrome
Condition: not provided
Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia
Thrombocytopenia 1

Criteria Provided
Multiple Submitters
No Conflicts

CA341003

rs_132630268

8 SubmittersRCV000011864 RCV000414284 RCV000633305

NM_000377.3(WAS):c.167C>T (p.Ala56Val)

SNV
Germline

ChrX:48684317

Pathogenic

Thrombocytopenia 1
Condition: not provided
Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia
Thrombocytopenia 1
Wiskott-Aldrich syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA255723

rs_132630269

5 SubmittersRCV000011865 RCV001563489 RCV003764557 RCV002243636

NM_000377.3(WAS):c.100C>T (p.Arg34Ter)

SNV
Germline

ChrX:48683953

Pathogenic

Wiskott-Aldrich syndrome
Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia
Thrombocytopenia 1

Criteria Provided
Single Submitter

CA341005

rs_132630271

2 SubmittersRCV000011868 RCV003764558

NM_000377.3(WAS):c.1A>T (p.Met1Leu)

SNV
Somatic

ChrX:48683854

Pathogenic

Wiskott-Aldrich syndrome

No Assertion Criteria Provided

CA341008

rs_587776742

1 SubmittersRCV000011869

NM_000377.3(WAS):c.244T>C (p.Ser82Pro)

SNV
Germline

ChrX:48684394

Likely pathogenic

WISKOTT-ALDRICH SYNDROME, ATTENUATED
Condition: not provided

Criteria Provided
Single Submitter

CA121359

rs_132630272

2 SubmittersRCV000011871 RCV001509116

NM_000377.3(WAS):c.134C>T (p.Thr45Met)

SNV
Germline

ChrX:48684284

Pathogenic

Thrombocytopenia 1
Thrombocytopenia
Thrombocytopenia 1
Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia
Condition: not provided
Wiskott-Aldrich syndrome
WAS-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA255728

rs_132630273

10 SubmittersRCV000011872 RCV000851684 RCV001037597 RCV001172206 RCV004760326 RCV004748516

NM_000377.3(WAS):c.809T>C (p.Leu270Pro)

SNV
Germline

ChrX:48688331

Pathogenic/Likely pathogenic

X-linked severe congenital neutropenia
Condition: not provided
Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia
Thrombocytopenia 1

Criteria Provided
Multiple Submitters
No Conflicts

CA280988

rs_132630274

3 SubmittersRCV000011874 RCV001291553 RCV001851800

NM_000377.3(WAS):c.560-1G>A

SNV
Germline

ChrX:48686780

Pathogenic

Wiskott-Aldrich syndrome

No Assertion Criteria Provided

CA412869779

rs_1602178087

1 SubmittersRCV000011880

NM_000377.3(WAS):c.559+2T>G

SNV
Germline

ChrX:48686136

Pathogenic

Wiskott-Aldrich syndrome

No Assertion Criteria Provided

CA412869598

rs_1602177733

1 SubmittersRCV000011881

NM_000363.5(TNNI3):c.575G>A (p.Arg192His)

SNV
Germline

Chr19:55151892

Pathogenic

Cardiomyopathy, familial restrictive, 1
Restrictive cardiomyopathy
Hypertrophic cardiomyopathy
Primary familial hypertrophic cardiomyopathy
Condition: not provided
Hypertrophic cardiomyopathy
Restrictive cardiomyopathy
Cardiovascular phenotype
SUDDEN INFANT DEATH SYNDROME
Dilated cardiomyopathy 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA021957

rs_104894729

11 SubmittersRCV000013237 RCV000154212 RCV000157534 RCV000159242 RCV000629012 RCV000852483 RCV000619328 RCV003147282 RCV003388566

NM_000363.5(TNNI3):c.433C>T (p.Arg145Trp)

SNV
Germline

Chr19:55154146

Pathogenic

Cardiomyopathy, familial restrictive, 1
Condition: not provided
Cardiomyopathy
Hypertrophic cardiomyopathy
Restrictive cardiomyopathy
Hypertrophic cardiomyopathy
SUDDEN INFANT DEATH SYNDROME
Hypertrophic cardiomyopathy 7
Dilated cardiomyopathy 2A
Cardiomyopathy, familial restrictive, 1
Dilated cardiomyopathy 1FF
TNNI3-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA021667

rs_104894724

19 SubmittersRCV000013239 RCV000159222 RCV001170617 RCV000498333 RCV001254730 RCV001787387 RCV004795401 RCV004549357

NM_003172.4(SURF1):c.751C>T (p.Gln251Ter)

SNV
Germline

Chr9:133352446

Pathogenic

Mitochondrial complex IV deficiency, nuclear type 1
Leigh syndrome
Condition: not provided
Mitochondrial disease
Charcot-Marie-Tooth disease type 4K
Mitochondrial complex IV deficiency, nuclear type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA122692

rs_121918657

6 SubmittersRCV000013599 RCV000589222 RCV000599426 RCV003314553 RCV005042037

NM_003172.4(SURF1):c.371G>A (p.Gly124Glu)

SNV
Germline

Chr9:133353893

Pathogenic

Mitochondrial complex IV deficiency, nuclear type 1
Leigh syndrome

Criteria Provided
Single Submitter

CA122697

rs_28933402

2 SubmittersRCV000013606 RCV001851829

NM_000540.3(RYR1):c.1840C>T (p.Arg614Cys)

SNV
Germline

Chr19:38457545

Pathogenic; drug response

Condition: not provided
Malignant hyperthermia of anesthesia
RYR1-related disorder
Inborn genetic diseases
desflurane response - Toxicity
Malignant hyperthermia, susceptibility to, 1
enflurane response - Toxicity
succinylcholine response - Toxicity
Malignant hyperthermia, susceptibility to, 1
Central core myopathy
Congenital myopathy with fiber type disproportion
King Denborough syndrome
Congenital multicore myopathy with external ophthalmoplegia
halothane response - Toxicity
isoflurane response - Toxicity
methoxyflurane response - Toxicity
sevoflurane response - Toxicity

Reviewed By Expert Panel

CA024311

rs_118192172

30 SubmittersRCV000119586 RCV000608635 RCV000538121 RCV000624176 RCV001787388 RCV000013830 RCV001787389 RCV001787394 RCV002496349 RCV001787390 RCV001787391 RCV001787392 RCV001787393

NM_000540.3(RYR1):c.7300G>A (p.Gly2434Arg)

SNV
Germline

Chr19:38499993

Pathogenic; drug response

Malignant hyperthermia, susceptibility to, 1
Condition: not provided
RYR1-related disorder
Malignant hyperthermia of anesthesia
desflurane response - Toxicity
enflurane response - Toxicity
halothane response - Toxicity
methoxyflurane response - Toxicity
succinylcholine response - Toxicity
isoflurane response - Toxicity
sevoflurane response - Toxicity
Central core myopathy
Inborn genetic diseases
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy

Reviewed By Expert Panel

CA024747

rs_121918593

32 SubmittersRCV000013837 RCV000119698 RCV000551243 RCV000612258 RCV001787719 RCV001787720 RCV001787721 RCV001787723 RCV001787725 RCV001787722 RCV001787724 RCV002288488 RCV002513026 RCV005025050

NM_000540.3(RYR1):c.7372C>T (p.Arg2458Cys)

SNV
Germline

Chr19:38500654

Likely pathogenic; drug response

Malignant hyperthermia, susceptibility to, 1
Condition: not provided
Malignant hyperthermia of anesthesia
RYR1-related disorder
sevoflurane response - Toxicity
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1
Congenital myopathy with fiber type disproportion
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
methoxyflurane response - Toxicity
succinylcholine response - Toxicity
desflurane response - Toxicity
enflurane response - Toxicity
halothane response - Toxicity
isoflurane response - Toxicity

Reviewed By Expert Panel

CA024784

rs_28933397

12 SubmittersRCV000013838 RCV000119711 RCV000614410 RCV000796565 RCV001787731 RCV002490361 RCV001787730 RCV001787732 RCV001787726 RCV001787727 RCV001787728 RCV001787729

NM_000540.3(RYR1):c.6617C>T (p.Thr2206Met)

SNV
Germline

Chr19:38496283

Pathogenic

Malignant hyperthermia, susceptibility to, 1
Condition: not provided
History of neonatal hypotonia
Absence of the sacrum
Ptosis
Malignant hyperthermia of anesthesia
RYR1-related disorder
King Denborough syndrome
Inborn genetic diseases
Malignant hyperthermia, susceptibility to
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
Central core myopathy
King Denborough syndrome
Central core myopathy

Reviewed By Expert Panel

CA024622

rs_118192177

24 SubmittersRCV000013846 RCV000119662 RCV000162149 RCV000606881 RCV000655558 RCV001729348 RCV004658961 RCV004556715 RCV005016260 RCV005624685

NM_000540.3(RYR1):c.325C>T (p.Arg109Trp)

SNV
Germline

Chr19:38443612

Conflicting classifications of pathogenicity

Congenital multicore myopathy with external ophthalmoplegia
Condition: not provided
RYR1-related disorder
Congenital myopathy with fiber type disproportion
Malignant hyperthermia, susceptibility to, 1
Central core myopathy
Centronuclear myopathy
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy

Criteria Provided
Conflicting Classifications

CA024392

rs_118192173

17 SubmittersRCV000013860 RCV000119608 RCV000655512 RCV001199051 RCV003996093 RCV003447473 RCV004586005 RCV005003354

NM_000540.3(RYR1):c.7268T>A (p.Met2423Lys)

SNV
Germline

Chr19:38499961

Conflicting classifications of pathogenicity

Congenital multicore myopathy with external ophthalmoplegia
Condition: not provided
Clubfoot
EMG abnormality
Lower limb amyotrophy
Congenital myopathy with fiber type disproportion
RYR1-related disorder
King Denborough syndrome
Congenital myopathy with fiber type disproportion
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Neuromuscular disease
Central core myopathy

Criteria Provided
Conflicting Classifications

CA024732

rs_118192174

11 SubmittersRCV000013861 RCV000119694 RCV000415169 RCV001197410 RCV001851835 RCV002504782 RCV003996094 RCV004017243 RCV004813035

NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg)

SNV
Germline/somatic

Chr3:179234297

Pathogenic

Carcinoma of colon
Hepatocellular carcinoma
Non-small cell lung carcinoma
Seborrheic keratosis
Breast adenocarcinoma
OVARIAN CANCER, EPITHELIAL, SOMATIC
CLOVES syndrome
Ovarian neoplasm
PIK3CA related overgrowth syndrome
Neoplasm
Rosette-forming glioneuronal tumor
MACRODACTYLY, SOMATIC
Condition: not provided
Lip and oral cavity carcinoma
Abnormal cardiovascular system morphology
CEREBRAL CAVERNOUS MALFORMATIONS 4, SOMATIC
CLAPO syndrome
Cerebrofacial Vascular Metameric Syndrome (CVMS)
Segmental undergrowth associated with mainly venous malformation with capillary component
Segmental undergrowth associated with lymphatic malformation
Megalencephaly-capillary malformation-polymicrogyria syndrome
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
Congenital macrodactylia
Gastric cancer
Breast carcinoma
Klippel-Trenaunay-like-Syndrome
Rare venous malformation
Rare combined vascular malformation
PIK3CA-related disorder
PIK3CA-Related Overgrowth Spectrum Disorders

Reviewed By Expert Panel

CA123326

rs_121913279

30 SubmittersRCV000014624 RCV000014626 RCV000014627 RCV000014628 RCV000014622 RCV000014623 RCV000024621 RCV000154516 RCV000201231 RCV000438435 RCV000487449 RCV000709691 RCV001092442 RCV001255686 RCV001327968 RCV001728091 RCV001729349 RCV001730472 RCV001705589 RCV001705590 RCV001807727 RCV001836707 RCV001526648 RCV002508124 RCV003128082 RCV003325939 RCV004527290 RCV004527291 RCV004737153 RCV005051734

NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu)

SNV
Germline/somatic

Chr3:179234297

Pathogenic

Breast adenocarcinoma
PIK3CA related overgrowth syndrome
CLOVES syndrome
Stroke disorder
Macrodactyly of toe
Ovarian neoplasm
CLAPO syndrome
Cowden syndrome 1
Megalencephaly-capillary malformation-polymicrogyria syndrome
CEREBRAL CAVERNOUS MALFORMATIONS 4, SOMATIC
Hemihypertrophy
Condition: not provided
Colorectal cancer
Cavernous lymphangioma
Neoplasm
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA123328

rs_121913279

13 SubmittersRCV000014629 RCV000201235 RCV000032905 RCV000626894 RCV000422323 RCV000709692 RCV000987367 RCV001253236 RCV001728092 RCV001526597 RCV002254265 RCV001807728 RCV004527292 RCV004668728 RCV004649064

NM_006218.4(PIK3CA):c.1636C>G (p.Gln546Glu)

SNV
Somatic

Chr3:179218306

Likely pathogenic

Breast adenocarcinoma
PIK3CA related overgrowth syndrome

Criteria Provided
Single Submitter

CA123331

rs_121913286

2 SubmittersRCV000014630 RCV005251037

NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys)

SNV
Germline/somatic

Chr3:179218303

Pathogenic/Likely pathogenic

Carcinoma of colon
Seborrheic keratosis
Breast adenocarcinoma
OVARIAN CANCER, EPITHELIAL, SOMATIC
Non-small cell lung carcinoma
Megalencephaly-capillary malformation-polymicrogyria syndrome
Sarcoma
Ovarian neoplasm
Condition: not provided
CLOVES syndrome
Abnormal cardiovascular system morphology
PIK3CA related overgrowth syndrome
Cerebrofacial Vascular Metameric Syndrome (CVMS)
Segmental undergrowth associated with lymphatic malformation
Gallbladder cancer
Eccrine angiomatous hamartoma
Gastric cancer
HEMIFACIAL MYOHYPERPLASIA, SOMATIC
Angioosteohypertrophic syndrome
Rare venous malformation
Rare combined vascular malformation
Neoplasm
PIK3CA overgrowth syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA123334

rs_104886003

19 SubmittersRCV000014633 RCV000014636 RCV000014631 RCV000014632 RCV000038671 RCV000055930 RCV000119356 RCV000422210 RCV001092440 RCV001262721 RCV001327963 RCV001290591 RCV001730473 RCV001705591 RCV001374447 RCV001786329 RCV002508125 RCV003764575 RCV004527293 RCV004527294 RCV004527295 RCV004668729 RCV004698419

NM_006218.4(PIK3CA):c.1634A>G (p.Glu545Gly)

SNV
Somatic

Chr3:179218304

Pathogenic

Epidermal nevus
Carcinoma of colon
PIK3CA related overgrowth syndrome

Criteria Provided
Single Submitter

CA123336

rs_121913274

2 SubmittersRCV000014638 RCV000014637 RCV004562209

NM_006218.4(PIK3CA):c.1636C>A (p.Gln546Lys)

SNV
Germline/somatic

Chr3:179218306

Conflicting classifications of pathogenicity

Carcinoma of colon
OVARIAN CANCER, EPITHELIAL, SOMATIC
Prostate cancer
PIK3CA related overgrowth syndrome
Ovarian neoplasm
Segmental undergrowth associated with mainly venous malformation with capillary component
Condition: not provided
Megalencephaly-capillary malformation-polymicrogyria syndrome

Criteria Provided
Conflicting Classifications

CA123338

rs_121913286

8 SubmittersRCV000014640 RCV000014639 RCV000205164 RCV000201230 RCV000436582 RCV001705592 RCV001762046 RCV004698784

NM_007103.4(NDUFV1):c.1268C>T (p.Thr423Met)

SNV
Germline

Chr11:67612225

Pathogenic/Likely pathogenic

Mitochondrial complex I deficiency
Leigh syndrome
Condition: not provided
Mitochondrial complex I deficiency, nuclear type 1
Mitochondrial complex I deficiency, nuclear type 4

Criteria Provided
Multiple Submitters
No Conflicts

CA123735

rs_121913659

13 SubmittersRCV000015100 RCV002468969 RCV000200093 RCV000763271 RCV000735412

NM_007103.4(NDUFV1):c.175C>T (p.Arg59Ter)

SNV
Germline

Chr11:67608571

Pathogenic

Mitochondrial complex I deficiency, nuclear type 4
Condition: not provided
Leigh syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA082750

rs_768050261

7 SubmittersRCV000015101 RCV000494645 RCV001420935

NM_007103.4(NDUFV1):c.1022C>T (p.Ala341Val)

SNV
Germline

Chr11:67611511

Pathogenic/Likely pathogenic

Mitochondrial complex I deficiency
Mitochondrial complex I deficiency, nuclear type 4
Condition: not provided
Leigh syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA123737

rs_121913660

7 SubmittersRCV000015102 RCV001331688 RCV001851864 RCV003155025

NM_007103.4(NDUFV1):c.640G>A (p.Glu214Lys)

SNV
Germline

Chr11:67610510

Pathogenic

Mitochondrial complex I deficiency, nuclear type 4
Condition: not provided
Leigh syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA123738

rs_121913661

4 SubmittersRCV000015103 RCV000497761 RCV003234905

NM_000814.6(GABRB3):c.650G>A (p.Arg217His)

SNV
Germline

Chr15:26580351

Conflicting classifications of pathogenicity

Insomnia
SUDDEN INFANT DEATH SYNDROME
Epilepsy, childhood absence, susceptibility to, 5
Epilepsy, childhood absence, susceptibility to, 1
Developmental and epileptic encephalopathy, 43

Criteria Provided
Conflicting Classifications

CA126256

rs_121913125

5 SubmittersRCV000017574 RCV001787803 RCV000703382 RCV003133118

NM_000249.4(MLH1):c.131C>T (p.Ser44Phe)

SNV
Germline

Chr3:36996633

Pathogenic

Lynch syndrome
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA004973

rs_63751109

4 SubmittersRCV000075169 RCV001269530 RCV000018608 RCV002381257

NM_000249.4(MLH1):c.986A>C (p.His329Pro)

SNV
Germline

Chr3:37020411

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA013465

rs_63750710

5 SubmittersRCV000215121 RCV000075954 RCV000018614 RCV005089272

NM_000249.4(MLH1):c.676C>T (p.Arg226Ter)

SNV
Germline/somatic

Chr3:37012098

Pathogenic

Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Lynch-like syndrome
Mismatch repair cancer syndrome 1
Breast and/or ovarian cancer
Muir-Torré syndrome

Reviewed By Expert Panel

CA011496

rs_63751615

24 SubmittersRCV000018616 RCV000075801 RCV000115485 RCV000202205 RCV000524311 RCV001093685 RCV001249951 RCV001267883 RCV003149572 RCV003137535

NM_000249.4(MLH1):c.199G>T (p.Gly67Trp)

SNV
Germline

Chr3:36996701

Pathogenic

Lynch syndrome
Mismatch repair cancer syndrome 1
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA008112

rs_63750206

4 SubmittersRCV000075475 RCV001267885 RCV000018618 RCV002415421

NM_000249.4(MLH1):c.350C>T (p.Thr117Met)

SNV
Germline/somatic

Chr3:37004444

Pathogenic

Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Condition: not provided
Lynch-like syndrome
Endometrial carcinoma
Colon cancer
Inherited MMR deficiency (Lynch syndrome)
Muir-Torré syndrome
Mismatch repair cancer syndrome 1
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA009872

rs_63750781

30 SubmittersRCV000018626 RCV000075666 RCV000524293 RCV000570680 RCV000144599 RCV000160518 RCV001249927 RCV001353627 RCV003229801 RCV004584176 RCV004795924

NM_000249.4(MLH1):c.1942C>T (p.Pro648Ser)

SNV
Germline

Chr3:37048562

Pathogenic

Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Mismatch repair cancer syndrome 1

Reviewed By Expert Panel

CA007707

rs_63750899

7 SubmittersRCV000018629 RCV000075432 RCV000162472 RCV001040524 RCV001284501 RCV001267884

NM_000249.4(MLH1):c.806C>G (p.Ser269Ter)

SNV
Germline

Chr3:37017521

Pathogenic

Lynch syndrome
Colon cancer
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA012452

rs_63750691

7 SubmittersRCV000075875 RCV000677880 RCV001723579 RCV000704907 RCV000018631 RCV002408469

NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr)

SNV
Germline

Chr3:37048955

Pathogenic

Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome
not specified
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Hereditary nonpolyposis colon cancer
Muir-Torré syndrome
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA008304

rs_63750217

26 SubmittersRCV000018632 RCV000075495 RCV000202172 RCV000213700 RCV000524270 RCV000519240 RCV000763105 RCV001328323 RCV002288511 RCV005251042

NM_000249.4(MLH1):c.200G>A (p.Gly67Glu)

SNV
Germline

Chr3:36996702

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA008188

rs_63749939

9 SubmittersRCV000132445 RCV000075482 RCV000216147 RCV000524267 RCV000018641

NM_001379500.1(COL18A1):c.12-2A>T

SNV
Germline

Chr21:45405377

Pathogenic

Knobloch syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA410620250

rs_1467976097

3 SubmittersRCV000018652 RCV001851919

NM_001379500.1(COL18A1):c.3013+3A>C

SNV
Germline

Chr21:45505281

Likely pathogenic

Knobloch syndrome
Knobloch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA2573054950

rs_770631950

3 SubmittersRCV000018656 RCV004782018

NM_000249.4(MLH1):c.793C>T (p.Arg265Cys)

SNV
Germline

Chr3:37017508

Pathogenic

Colorectal cancer, hereditary nonpolyposis, type 2
Condition: not provided
Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Carcinoma of colon
Lynch syndrome 1
Muir-Torré syndrome
Mismatch repair cancer syndrome 1
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA012394

rs_63751194

25 SubmittersRCV000022502 RCV000034802 RCV000075872 RCV000220712 RCV000524317 RCV000677879 RCV001093673 RCV005025076

NM_000249.4(MLH1):c.1865T>A (p.Leu622His)

SNV
Germline

Chr3:37047652

Pathogenic

Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided

Reviewed By Expert Panel

CA007237

rs_63750693

7 SubmittersRCV000022505 RCV000075389 RCV001804746 RCV001851995 RCV002408475 RCV004998105

NM_000377.3(WAS):c.814T>C (p.Ser272Pro)

SNV
Germline

ChrX:48688336

Likely pathogenic

X-linked severe congenital neutropenia
X-linked severe congenital neutropenia
Thrombocytopenia 1
Wiskott-Aldrich syndrome

Criteria Provided
Single Submitter

CA281101

rs_387906716

2 SubmittersRCV000022858 RCV003764631

NM_000377.3(WAS):c.881T>C (p.Ile294Thr)

SNV
Germline

ChrX:48688403

Pathogenic/Likely pathogenic

X-linked severe congenital neutropenia
X-linked severe congenital neutropenia
Thrombocytopenia 1
Wiskott-Aldrich syndrome
Condition: not provided
X-Linked Neutropenia
WAS-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA281104

rs_387906717

10 SubmittersRCV000022859 RCV001058962 RCV001268500 RCV004782021 RCV003407355

NM_001375834.1(WIPF1):c.1301C>G (p.Ser434Ter)

SNV
Germline

Chr2:174567902

Pathogenic

Wiskott-Aldrich syndrome 2

No Assertion Criteria Provided

CA349336559

rs_1574785867

1 SubmittersRCV000023193

NM_018344.6(SLC29A3):c.1088G>A (p.Arg363Gln)

SNV
Germline

Chr10:71362268

Pathogenic

H syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA129561

rs_387907066

3 SubmittersRCV000023938 RCV005003403

NM_018344.6(SLC29A3):c.1087C>T (p.Arg363Trp)

SNV
Germline

Chr10:71362267

Pathogenic/Likely pathogenic

H syndrome
Condition: not provided
SLC29A3-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA129562

rs_387907067

5 SubmittersRCV000023939 RCV000493511 RCV003398566

NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys)

SNV
Germline/somatic

Chr3:179218294

Pathogenic

CLOVES syndrome
Ovarian neoplasm
Non-small cell lung carcinoma
Condition: not provided
CLAPO syndrome
Lip and oral cavity carcinoma
CEREBRAL CAVERNOUS MALFORMATIONS 4, SOMATIC
Abnormal cardiovascular system morphology
Cerebrofacial Vascular Metameric Syndrome (CVMS)
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
PIK3CA-related overgrowth
PIK3CA-related disorder
Cowden syndrome
Megalencephaly-capillary malformation-polymicrogyria syndrome
HEMIFACIAL MYOHYPERPLASIA, SOMATIC
Rare venous malformation
PIK3CA related overgrowth syndrome
Neoplasm

Reviewed By Expert Panel

CA333572

rs_121913273

18 SubmittersRCV000024622 RCV000151649 RCV000154513 RCV000416776 RCV000709693 RCV001255687 RCV001728093 RCV001327962 RCV001730477 RCV001836714 RCV003987334 RCV004532404 RCV002513230 RCV004698785 RCV003764635 RCV004527296 RCV003458190 RCV004668742

NM_006218.4(PIK3CA):c.1258T>C (p.Cys420Arg)

SNV
Germline/somatic

Chr3:179210192

Pathogenic

CLOVES syndrome
PIK3CA related overgrowth syndrome
Ovarian neoplasm
CLAPO syndrome
Abnormal cardiovascular system morphology
Capillary malformation
Rare combined vascular malformation
Segmental undergrowth associated with lymphatic malformation
Colorectal cancer
Condition: not provided
Cowden syndrome
Neoplasm

Criteria Provided
Multiple Submitters
No Conflicts

CA180900

rs_121913272

16 SubmittersRCV000024623 RCV000201232 RCV000154512 RCV000709694 RCV001327960 RCV001526612 RCV004527297 RCV001705599 RCV005603590 RCV002054475 RCV003588566 RCV004668743

NM_000249.4(MLH1):c.1381A>T (p.Lys461Ter)

SNV
Germline/somatic

Chr3:37025979

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colorectal neoplasms
Lynch-like syndrome
Lynch syndrome 1

Reviewed By Expert Panel

CA005183

rs_63750540

18 SubmittersRCV000132422 RCV000030213 RCV000202201 RCV000659871 RCV000763102 RCV000524235 RCV001249929 RCV001804748

NM_000249.4(MLH1):c.1937A>G (p.Tyr646Cys)

SNV
Germline

Chr3:37048557

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome 1
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA007678

rs_35045067

16 SubmittersRCV000131964 RCV000587551 RCV000524258 RCV000662690 RCV001093659 RCV002267800 RCV003996129

NM_000249.4(MLH1):c.2213G>A (p.Gly738Glu)

SNV
Germline

Chr3:37050595

Conflicting classifications of pathogenicity

Lynch syndrome
not specified
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA009110

rs_148317871

14 SubmittersRCV000030221 RCV000160545 RCV000411992 RCV000524281 RCV000573289 RCV000767194 RCV005357160

NM_000249.4(MLH1):c.298C>T (p.Arg100Ter)

SNV
Germline/somatic

Chr3:37001045

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch-like syndrome

Reviewed By Expert Panel

CA009575

rs_63751221

18 SubmittersRCV000030223 RCV000569466 RCV000576742 RCV000220956 RCV000524287 RCV001250008

NM_000249.4(MLH1):c.454-1G>A

SNV
Germline

Chr3:37008813

Pathogenic

Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided

Reviewed By Expert Panel

CA010570

rs_193922370

7 SubmittersRCV000018611 RCV000030226 RCV001804749 RCV001067834 RCV001725119

NM_000249.4(MLH1):c.94A>G (p.Ile32Val)

SNV
Germline

Chr3:36993641

Conflicting classifications of pathogenicity

Lynch syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA013254

rs_2020872

9 SubmittersRCV000030233 RCV000217828 RCV000524324 RCV000568967 RCV001030560

NM_000251.3(MSH2):c.1030C>T (p.Gln344Ter)

SNV
Germline

Chr2:47416383

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Muir-Torré syndrome
Lynch syndrome 1
Mismatch repair cancer syndrome 2
Lynch syndrome 1

Reviewed By Expert Panel

CA016912

rs_63750245

8 SubmittersRCV000030234 RCV000759091 RCV001009753 RCV001224622 RCV005394174 RCV003450651

NM_000251.3(MSH2):c.2038C>T (p.Arg680Ter)

SNV
Germline/somatic

Chr2:47476399

Pathogenic

Lynch syndrome
Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Malignant tumor of ascending colon
Hereditary nonpolyposis colorectal neoplasms
Lynch-like syndrome
Lynch syndrome 4

Reviewed By Expert Panel

CA019872

rs_63749932

21 SubmittersRCV000030248 RCV000576755 RCV000115515 RCV000202174 RCV000677886 RCV000524372 RCV001250040 RCV004555850

NM_000251.3(MSH2):c.421A>G (p.Met141Val)

SNV
Germline

Chr2:47410148

Conflicting classifications of pathogenicity

Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA021148

rs_193922374

8 SubmittersRCV000030254 RCV000212584 RCV000115531 RCV001079015 RCV005420519 RCV005357161

NM_000251.3(MSH2):c.942+3A>T

SNV
Germline/somatic

Chr2:47414421

Pathogenic

Lynch syndrome 1
Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch-like syndrome
Carcinoma of colon
Hereditary nonpolyposis colon cancer
Breast carcinoma
Mismatch repair cancer syndrome 2
Lynch syndrome 1
Muir-Torré syndrome
MSH2-related disorder

Reviewed By Expert Panel

CA022585

rs_193922376

33 SubmittersRCV000001844 RCV000030256 RCV000115549 RCV000201997 RCV000524424 RCV001249912 RCV001353565 RCV001731319 RCV001579303 RCV005025083 RCV004734535

NM_000179.3(MSH6):c.38A>C (p.Lys13Thr)

SNV
Germline

Chr2:47783271

Conflicting classifications of pathogenicity

Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
not specified
Endometrial carcinoma
Endometrial carcinoma
Mismatch repair cancer syndrome 3
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA014649

rs_41294988

12 SubmittersRCV000030274 RCV000160705 RCV000569787 RCV000627725 RCV000662751 RCV001818192 RCV003466879 RCV005394175

NM_000179.3(MSH6):c.975A>G (p.Gln325=)

SNV
Germline

Chr2:47798958

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA016697

rs_193922345

6 SubmittersRCV000030278 RCV000805479 RCV000423476 RCV002256010 RCV005420520

NM_000377.3(WAS):c.310C>T (p.Gln104Ter)

SNV
Germline

ChrX:48685583

Likely pathogenic

Wiskott-Aldrich syndrome

Criteria Provided
Single Submitter

CA342894

rs_193922414

1 SubmittersRCV000030594

NM_000377.3(WAS):c.37C>T (p.Arg13Ter)

SNV
Germline

ChrX:48683890

Pathogenic

Wiskott-Aldrich syndrome
Wiskott-Aldrich syndrome
Thrombocytopenia 1
X-linked severe congenital neutropenia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA342897

rs_193922415

5 SubmittersRCV000030595 RCV001230612 RCV001311067

NM_000377.3(WAS):c.538C>A (p.His180Asn)

SNV
Germline

ChrX:48686113

Conflicting classifications of pathogenicity

Thrombocytopenia 1
not specified
Condition: not provided
Wiskott-Aldrich syndrome
Thrombocytopenia 1
X-linked severe congenital neutropenia
WAS-related disorder

Criteria Provided
Conflicting Classifications

CA162689

rs_145040665

9 SubmittersRCV000030596 RCV000122270 RCV000419963 RCV001086760 RCV003914875

NM_006218.4(PIK3CA):c.2740G>A (p.Gly914Arg)

SNV
Germline/somatic

Chr3:179230077

Pathogenic

Megalencephaly-capillary malformation-polymicrogyria syndrome
Condition: not provided
Abnormal cardiovascular system morphology
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
PIK3CA related overgrowth syndrome
Cowden syndrome 5
CLOVES syndrome
PIK3CA-related disorder
Inborn genetic diseases
PIK3C1-related disorder
Cowden syndrome
Angioosteohypertrophic syndrome
Abnormal cerebral morphology

Reviewed By Expert Panel

CA130467

rs_587776932

21 SubmittersRCV000032907 RCV000414672 RCV001327966 RCV001836717 RCV003233078 RCV001594376 RCV004798751 RCV004737167 RCV004955261 RCV005222712 RCV001852661 RCV002254272 RCV002274888

NM_006218.4(PIK3CA):c.1133G>A (p.Cys378Tyr)

SNV
Germline/somatic

Chr3:179204576

Pathogenic

Megalencephaly-capillary malformation-polymicrogyria syndrome
PIK3CA related overgrowth syndrome
Cowden syndrome
Epidermal nevus
Condition: not provided
PIK3CA-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA130469

rs_397514565

10 SubmittersRCV000032908 RCV000201233 RCV000806643 RCV005229840 RCV005241335 RCV004532477

NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr)

SNV
Germline/somatic

Chr3:179234296

Pathogenic

Megalencephaly-capillary malformation-polymicrogyria syndrome
Non-small cell lung carcinoma
Cowden syndrome
13 conditions
Condition: not provided
Segmental undergrowth associated with mainly venous malformation with capillary component
PIK3CA related overgrowth syndrome
CLOVES syndrome
HEMIFACIAL MYOHYPERPLASIA, SOMATIC
PIK3CA overgrowth syndrome
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA130471

rs_121913281

14 SubmittersRCV000032909 RCV000038675 RCV000698423 RCV000763508 RCV001092441 RCV001705625 RCV003233079 RCV002226661 RCV003882732 RCV004698336 RCV004955262

NM_005027.4(PIK3R2):c.1117G>A (p.Gly373Arg)

SNV
Germline

Chr19:18162974

Pathogenic

Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
Inborn genetic diseases
Megalencephaly-capillary malformation-polymicrogyria syndrome
Condition: not provided
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
Seizure
PIK3R2-related disorder
Intellectual disability

Reviewed By Expert Panel

CA130573

rs_587776934

27 SubmittersRCV000033029 RCV000190661 RCV000416575 RCV000366413 RCV001836718 RCV001849288 RCV003914893 RCV001526656

NM_139242.4(MTFMT):c.626C>T (p.Ser209Leu)

SNV
Germline

Chr15:65021533

Pathogenic

Combined oxidative phosphorylation defect type 15
Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 27
Condition: not provided
6 conditions
See cases
MTFMT-related disorder
Inborn genetic diseases
Mitochondrial complex I deficiency, nuclear type 27
Combined oxidative phosphorylation defect type 15
MTFMT-Related Disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA130599

rs_201431517

21 SubmittersRCV000033047 RCV000190888 RCV000735417 RCV000320667 RCV000415235 RCV002251943 RCV005256554 RCV002513312 RCV002477042 RCV005055532

NC_012920.1(MT-ATP6):m.9191T>C

SNV
Germline

ChrMT:9191

Likely pathogenic

Leigh syndrome
Mitochondrial disease

Reviewed By Expert Panel

CA345914

rs_1556423632

2 SubmittersRCV000144006 RCV002221481

NM_000179.3(MSH6):c.1867C>G (p.Pro623Ala)

SNV
Germline

Chr2:47799850

Conflicting classifications of pathogenicity

Condition: not provided
Lynch syndrome
not specified
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
MSH6-related disorder

Criteria Provided
Conflicting Classifications

CA009344

rs_3136334

14 SubmittersRCV000034494 RCV000074692 RCV000121577 RCV000128867 RCV000662448 RCV001082588 RCV004534719

NM_000179.3(MSH6):c.2667G>T (p.Gln889His)

SNV
Germline

Chr2:47800650

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer
MSH6-related disorder

Criteria Provided
Conflicting Classifications

CA010704

rs_149945495

16 SubmittersRCV000034496 RCV000115393 RCV000235185 RCV000410628 RCV001080247 RCV003492327 RCV004739319

NM_000249.4(MLH1):c.1964T>C (p.Ile655Thr)

SNV
Germline

Chr3:37048584

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Colorectal cancer, non-polyposis
Hereditary nonpolyposis colorectal neoplasms
not specified
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome
MLH1-related disorder

Criteria Provided
Conflicting Classifications

CA007813

rs_63751225

18 SubmittersRCV000034544 RCV000128924 RCV000148623 RCV001085205 RCV000781539 RCV000662533 RCV004806018 RCV003944879

NM_000251.3(MSH2):c.1748A>G (p.Asn583Ser)

SNV
Germline

Chr2:47471051

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Colorectal cancer, non-polyposis
Lynch syndrome
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
not specified
Malignant tumor of breast
Lynch syndrome 1
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA019161

rs_201118107

18 SubmittersRCV000034553 RCV000115510 RCV000148636 RCV000076263 RCV000765667 RCV001079601 RCV002265576 RCV001354468 RCV005246597 RCV003492329

NM_000251.3(MSH2):c.1787A>G (p.Asn596Ser)

SNV
Germline

Chr2:47475052

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Colorectal cancer, non-polyposis
Lynch syndrome
not specified
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Breast and/or ovarian cancer
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA019304

rs_41295288

24 SubmittersRCV000034554 RCV000115511 RCV000148641 RCV000076286 RCV000200985 RCV000659882 RCV001081309 RCV003149607 RCV000765668

NM_000251.3(MSH2):c.1837A>C (p.Asn613His)

SNV
Germline

Chr2:47475102

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Muir-Torré syndrome
Lynch syndrome 1
Mismatch repair cancer syndrome 2

Criteria Provided
Conflicting Classifications

CA019422

rs_200147804

6 SubmittersRCV000034555 RCV000705544 RCV000771463 RCV004806020 RCV005394197

NM_000251.3(MSH2):c.2425G>A (p.Glu809Lys)

SNV
Germline

Chr2:47478486

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
MSH2-related disorder
Hereditary nonpolyposis colon cancer

Criteria Provided
Conflicting Classifications

CA020577

rs_202145681

15 SubmittersRCV000034556 RCV000121564 RCV000129519 RCV001030484 RCV001356651 RCV001080801 RCV001093691 RCV004534720 RCV001787035

NM_000535.7(PMS2):c.1437C>G (p.His479Gln)

SNV
Germline

Chr7:5987328

Conflicting classifications of pathogenicity

Condition: not provided
Lynch syndrome
not specified
Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Hereditary nonpolyposis colorectal neoplasms
Malignant tumor of breast
Breast and/or ovarian cancer
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA009671

rs_63750685

26 SubmittersRCV000034615 RCV000076809 RCV000121844 RCV000162366 RCV000625386 RCV001081746 RCV001356193 RCV003149610 RCV003153324

NM_000535.7(PMS2):c.2149G>A (p.Val717Met)

SNV
Germline

Chr7:5982849

Conflicting classifications of pathogenicity

Condition: not provided
Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 4
not specified
Lynch syndrome 4
Mismatch repair cancer syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Breast and/or ovarian cancer
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA010907

rs_201671325

27 SubmittersRCV000034624 RCV000199450 RCV000115676 RCV000411225 RCV000417397 RCV000515268 RCV001081398 RCV001798066 RCV003492332

NM_000535.7(PMS2):c.53T>C (p.Ile18Thr)

SNV
Germline

Chr7:6006002

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome
not specified
Lynch syndrome 4
Mismatch repair cancer syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Breast and/or ovarian cancer
PMS2-related disorder

Criteria Provided
Conflicting Classifications

CA012293

rs_201343342

19 SubmittersRCV000034630 RCV000115698 RCV000123089 RCV000212836 RCV000515284 RCV001083711 RCV001159382 RCV003149612 RCV003944883

NM_000535.7(PMS2):c.572A>G (p.Tyr191Cys)

SNV
Germline

Chr7:5999241

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Breast and/or ovarian cancer
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA012331

rs_375289386

16 SubmittersRCV000034631 RCV000132453 RCV000221255 RCV001080249 RCV000662753 RCV001798067 RCV003996173

NM_000535.7(PMS2):c.708G>T (p.Leu236Phe)

SNV
Germline

Chr7:5997421

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4
not specified
Mismatch repair cancer syndrome 4
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA012634

rs_201395630

11 SubmittersRCV000034634 RCV000231924 RCV000165656 RCV000412437 RCV001290448 RCV005042107

NM_000535.7(PMS2):c.86G>C (p.Gly29Ala)

SNV
Germline

Chr7:6005969

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome
Lynch syndrome 4
Breast and/or ovarian cancer
PMS2-related disorder
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA013092

rs_146176004

22 SubmittersRCV000034637 RCV000115707 RCV000121855 RCV000123093 RCV000786854 RCV003492334 RCV003891470 RCV001082141

NM_000535.7(PMS2):c.953A>G (p.Tyr318Cys)

SNV
Germline

Chr7:5992008

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome 4
Hereditary nonpolyposis colorectal neoplasms
Malignant tumor of breast
PMS2-related disorder

Criteria Provided
Conflicting Classifications

CA013361

rs_139438201

19 SubmittersRCV000034638 RCV000115712 RCV000212860 RCV000987839 RCV001083014 RCV001354089 RCV003952396

NM_024426.6(WT1):c.1063T>C (p.Cys355Arg)

SNV
Germline

Chr11:32399998

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Wilms tumor 1
11p partial monosomy syndrome
Drash syndrome
Frasier syndrome
Hereditary cancer-predisposing syndrome
Hereditary cancer
Wilms tumor 1
WT1-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA016364

rs_142059681

9 SubmittersRCV000034780 RCV000122312 RCV001081983 RCV002255123 RCV004700302 RCV005402808 RCV004549406 RCV004965266

NM_000251.3(MSH2):c.2276G>A (p.Gly759Glu)

SNV
Germline

Chr2:47478337

Conflicting classifications of pathogenicity

Condition: not provided
Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA020397

rs_386833406

3 SubmittersRCV000034800 RCV000986685 RCV002444462

NM_000540.3(RYR1):c.10204T>G (p.Cys3402Gly)

SNV
Germline

Chr19:38519399

Pathogenic

Congenital myopathy with fiber type disproportion
Central core myopathy
Condition: not provided
not specified
RYR1-related disorder
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1
RYR1-related myopathy
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
Congenital multicore myopathy with external ophthalmoplegia

Reviewed By Expert Panel

CA023822

rs_367543058

14 SubmittersRCV000034925 RCV000233916 RCV000147397 RCV000401146 RCV000529599 RCV004786294 RCV003996181 RCV005252703 RCV005394216

NM_000179.3(MSH6):c.3173-1G>C

SNV
Germline

Chr2:47803419

Pathogenic/Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA011783

rs_397515875

10 SubmittersRCV000035322 RCV000115404 RCV000201971 RCV000697257 RCV003323369 RCV003450661

NM_000179.3(MSH6):c.3991C>T (p.Arg1331Ter)

SNV
Germline

Chr2:47806641

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Endometrial carcinoma
Hereditary nonpolyposis colon cancer
Endometrial carcinoma
Mismatch repair cancer syndrome 3
Lynch syndrome 5
Breast and/or ovarian cancer
MSH6-related disorder

Reviewed By Expert Panel

CA015060

rs_267608094

25 SubmittersRCV000035325 RCV000131743 RCV000202305 RCV000524203 RCV000410467 RCV003460548 RCV001824584 RCV002490471 RCV003492340 RCV004528168

NM_000256.3(MYBPC3):c.821+1G>A

SNV
Germline/somatic

Chr11:47347856

Pathogenic

Cardiovascular phenotype
Primary familial hypertrophic cardiomyopathy
Condition: not provided
Hypertrophic cardiomyopathy
Cardiomyopathy
Hypertrophic cardiomyopathy 4
Left ventricular noncompaction 10
Primary dilated cardiomyopathy
SUDDEN INFANT DEATH SYNDROME
MYBPC3-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA015883

rs_397516073

27 SubmittersRCV000249601 RCV000845451 RCV000158313 RCV000168401 RCV001176299 RCV001807754 RCV002288533 RCV001375643 RCV001787823 RCV004549435

NM_006218.4(PIK3CA):c.1252G>A (p.Glu418Lys)

SNV
Germline/somatic

Chr3:179210186

Pathogenic

not specified
CLOVES syndrome
Neoplasm
PIK3CA related overgrowth syndrome
PIK3CA-related disorder

Criteria Provided
Single Submitter

CA136365

rs_397517199

5 SubmittersRCV000038669 RCV001256198 RCV004668761 RCV003458192 RCV004534818

NM_006218.4(PIK3CA):c.1637A>G (p.Gln546Arg)

SNV
Somatic

Chr3:179218307

Pathogenic

Ovarian neoplasm
Abnormal cardiovascular system morphology
Neoplasm
PIK3CA related overgrowth syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA136371

rs_397517201

6 SubmittersRCV000038672 RCV001327965 RCV004668762 RCV003458193 RCV002254273

NM_006218.4(PIK3CA):c.3073A>G (p.Thr1025Ala)

SNV
Germline/somatic

Chr3:179234230

Pathogenic/Likely pathogenic

Non-small cell lung carcinoma
Condition: not provided
PIK3CA related overgrowth syndrome
CLOVES syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA136374

rs_397517202

5 SubmittersRCV000038673 RCV002254274 RCV003458194 RCV001526503

NM_000540.3(RYR1):c.97A>G (p.Lys33Glu)

SNV
Germline

Chr19:38440796

Likely pathogenic

King Denborough syndrome
Condition: not provided
Malignant hyperthermia, susceptibility to, 1
RYR1-related disorder

Reviewed By Expert Panel

CA025005

rs_193922746

5 SubmittersRCV000049252 RCV000119774 RCV001588881 RCV003591651

NM_000540.3(RYR1):c.10348-6C>G

SNV
Germline

Chr19:38523211

Pathogenic

RYR1-related disorder
Condition: not provided
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
King Denborough syndrome
Central core myopathy
Inborn genetic diseases
King Denborough syndrome
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 1
Centronuclear myopathy
Myopathy, RYR1-associated
RYR1-related myopathy

Reviewed By Expert Panel

CA023836

rs_193922837

18 SubmittersRCV000535801 RCV000119410 RCV005359124 RCV001775081 RCV000624604 RCV001249074 RCV005003479 RCV003997313 RCV004586556 RCV004689614 RCV005430496

NM_001378615.1(CC2D2A):c.3544T>C (p.Trp1182Arg)

SNV
Germline

Chr4:15570446

Conflicting classifications of pathogenicity

Meckel syndrome, type 6
CC2D2A-related disorder
Joubert syndrome
Meckel-Gruber syndrome
Condition: not provided
Joubert syndrome 9
Meckel syndrome, type 6
COACH syndrome 2
Retinitis pigmentosa 93

Criteria Provided
Conflicting Classifications

CA144229

rs_386833755

7 SubmittersRCV000049719 RCV003335082 RCV001378831 RCV001723639 RCV005031533

NM_001378615.1(CC2D2A):c.517C>T (p.Arg173Ter)

SNV
Germline

Chr4:15510217

Pathogenic

Meckel syndrome, type 6
Condition: not provided
Joubert syndrome 9
Retinitis pigmentosa 93
Meckel syndrome, type 6
COACH syndrome 2
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA144239

rs_386833763

7 SubmittersRCV000049727 RCV004700347 RCV005031535 RCV001853050

NM_000540.3(RYR1):c.7354C>T (p.Arg2452Trp)

SNV
Germline

Chr19:38500636

Likely pathogenic; drug response

Central core myopathy
Condition: not provided
RYR1-related disorder
methoxyflurane response - Toxicity
sevoflurane response - Toxicity
succinylcholine response - Toxicity
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
desflurane response - Toxicity
halothane response - Toxicity
enflurane response - Toxicity
isoflurane response - Toxicity
RYR1-related myopathy

Reviewed By Expert Panel

CA024770

rs_118192124

15 SubmittersRCV000056226 RCV000119706 RCV000527240 RCV001787851 RCV001787852 RCV001787853 RCV002281899 RCV001729374 RCV001787847 RCV001787849 RCV001787848 RCV001787850 RCV002221195

NM_000540.3(RYR1):c.7361G>A (p.Arg2454His)

SNV
Germline

Chr19:38500643

Pathogenic; drug response

Central core myopathy
Condition: not provided
desflurane response - Toxicity
enflurane response - Toxicity
isoflurane response - Toxicity
Malignant hyperthermia, susceptibility to, 1
RYR1-related disorder
halothane response - Toxicity
methoxyflurane response - Toxicity
sevoflurane response - Toxicity
succinylcholine response - Toxicity
Malignant hyperthermia of anesthesia
King Denborough syndrome
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1

Reviewed By Expert Panel

CA024781

rs_118192122

17 SubmittersRCV000056227 RCV000119710 RCV001787854 RCV001787855 RCV001787857 RCV000709760 RCV000699835 RCV001787856 RCV001787858 RCV001787859 RCV001787860 RCV004700357 RCV005016355

NM_000540.3(RYR1):c.7522C>T (p.Arg2508Cys)

SNV
Germline

Chr19:38500898

Likely pathogenic

Central core myopathy
Condition: not provided
Congenital myopathy with fiber type disproportion
RYR1-related disorder
Abnormality of the musculature
Inborn genetic diseases
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome

Reviewed By Expert Panel

CA024819

rs_118192178

13 SubmittersRCV000056228 RCV000119718 RCV001198416 RCV000552166 RCV001814037 RCV000624571 RCV002281900 RCV001731347

NM_000540.3(RYR1):c.14473C>T (p.Arg4825Cys)

SNV
Germline

Chr19:38580090

Conflicting classifications of pathogenicity

Central core myopathy
Condition: not provided
Malignant hyperthermia, susceptibility to, 1
RYR1-related disorder
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA024150

rs_118192180

6 SubmittersRCV000056232 RCV000119518 RCV003996488 RCV001854163 RCV004555852

NM_000540.3(RYR1):c.14677C>T (p.Arg4893Trp)

SNV
Germline

Chr19:38584973

Pathogenic/Likely pathogenic

Condition: not provided
Central core myopathy
RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1
Congenital myopathy with fiber type disproportion
King Denborough syndrome
Central core myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA024220

rs_118192150

9 SubmittersRCV000119545 RCV000056236 RCV001046476 RCV003996489 RCV002496742

NM_001278716.2(FBXL4):c.1303C>T (p.Arg435Ter)

SNV
Germline

Chr6:98899282

Pathogenic

Mitochondrial DNA depletion syndrome 13
Mitochondrial DNA depletion syndrome
Inborn genetic diseases
Condition: not provided
Leigh syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA144886

rs_201889294

12 SubmittersRCV000056328 RCV000604628 RCV000622490 RCV001837446 RCV005237491

NM_001278716.2(FBXL4):c.1444C>T (p.Arg482Trp)

SNV
Germline

Chr6:98875673

Pathogenic/Likely pathogenic

Mitochondrial DNA depletion syndrome 13
Mitochondrial encephalomyopathy
Global developmental delay
Condition: not provided
Leigh syndrome
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA144891

rs_398123061

13 SubmittersRCV000056330 RCV000162170 RCV000224233 RCV003155062 RCV003242974

NM_000218.3(KCNQ1):c.1135T>C (p.Trp379Arg)

SNV
Germline

Chr11:2587576

Conflicting classifications of pathogenicity

SUDDEN INFANT DEATH SYNDROME
Long QT syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA005370

rs_199472768

5 SubmittersRCV000057559 RCV000462343 RCV000505766

NM_000218.3(KCNQ1):c.820A>G (p.Ile274Val)

SNV
Germline

Chr11:2572885

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Condition: not provided
not specified
SUDDEN INFANT DEATH SYNDROME
Long QT syndrome
Atrial fibrillation, familial, 3
Cardiac arrhythmia
Cardiovascular phenotype
Short QT syndrome type 2
Long QT syndrome 1
Jervell and Lange-Nielsen syndrome 1

Criteria Provided
Conflicting Classifications

CA008353

rs_199472728

10 SubmittersRCV000057771 RCV000182121 RCV000219577 RCV000148546 RCV001080930 RCV001108025 RCV001841690 RCV002426616 RCV001108024 RCV001102797 RCV001108026

NM_000238.4(KCNH2):c.2684C>T (p.Thr895Met)

SNV
Germline

Chr7:150948452

Conflicting classifications of pathogenicity

SUDDEN INFANT DEATH SYNDROME
Long QT syndrome 2
Long QT syndrome
Condition: not provided
Long QT syndrome 1
Cardiac arrhythmia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA007147

rs_199473434

10 SubmittersRCV000058151 RCV000988000 RCV000699702 RCV001588890 RCV001256913 RCV001841715 RCV004019008

NM_000335.5(SCN5A):c.2039G>A (p.Arg680His)

SNV
Germline

Chr3:38597952

Conflicting classifications of pathogenicity

SUDDEN INFANT DEATH SYNDROME
not specified
Condition: not provided
Cardiac arrhythmia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA015757

rs_199473142

7 SubmittersRCV000058473 RCV000156507 RCV001699115 RCV001842306 RCV004019041

NM_000335.5(SCN5A):c.2989G>A (p.Ala997Thr)

SNV
Germline

Chr3:38581170

Conflicting classifications of pathogenicity

Brugada syndrome
Brugada syndrome
SUDDEN INFANT DEATH SYNDROME
Condition: not provided
Sick sinus syndrome 1
Ventricular fibrillation, paroxysmal familial, type 1
Long QT syndrome 3
Dilated cardiomyopathy 1E
Progressive familial heart block, type 1A
Cardiovascular phenotype
Cardiac arrhythmia
Cardiomyopathy
8 conditions

Criteria Provided
Conflicting Classifications

CA016710

rs_137854609

16 SubmittersRCV000058541 RCV000171570 RCV000766794 RCV001145182 RCV001145179 RCV001145180 RCV001145181 RCV001147136 RCV004019046 RCV001842324 RCV003149712 RCV005394295

NM_000335.5(SCN5A):c.481G>A (p.Glu161Lys)

SNV
Germline

Chr3:38622401

Pathogenic/Likely pathogenic

Brugada syndrome
Condition: not provided
Cardiovascular phenotype
Brugada syndrome 1
Sick sinus syndrome 1
Dilated cardiomyopathy 1E
SUDDEN INFANT DEATH SYNDROME
Brugada syndrome 1
Long QT syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA018588

rs_199473062

10 SubmittersRCV000058710 RCV001699194 RCV002336213 RCV004786347 RCV005428999

NM_000335.5(SCN5A):c.4892G>A (p.Arg1631His)

SNV
Germline

Chr3:38551477

Conflicting classifications of pathogenicity

Conduction system disorder
Condition: not provided
SUDDEN INFANT DEATH SYNDROME
Long QT syndrome 3
Brugada syndrome 1
Sick sinus syndrome 1
Brugada syndrome
Cardiovascular phenotype
Brugada syndrome 1
Cardiac arrhythmia

Criteria Provided
Conflicting Classifications

CA018735

rs_199473286

11 SubmittersRCV000058723 RCV000519341 RCV001787861 RCV001258072 RCV001530198 RCV003996546 RCV002336214 RCV003450919 RCV003591672

NM_000335.5(SCN5A):c.5284G>A (p.Val1762Met)

SNV
Germline

Chr3:38551085

Pathogenic

Congenital long QT syndrome
Condition: not provided
SUDDEN INFANT DEATH SYNDROME
Long QT syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA019062

rs_199473631

5 SubmittersRCV000058760 RCV000183112 RCV001787862 RCV004786351

NM_024426.6(WT1):c.1463G>A (p.Ser488Asn)

SNV
Germline

Chr11:32389164

Conflicting classifications of pathogenicity

Inborn genetic diseases
Frasier syndrome
Drash syndrome
Wilms tumor 1
11p partial monosomy syndrome

Criteria Provided
Conflicting Classifications

CA219471729

rs_267602849

2 SubmittersRCV005305960 RCV000542066

NM_015272.5(RPGRIP1L):c.2230C>T (p.Arg744Ter)

SNV
Germline

Chr16:53649038

Pathogenic/Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome
Joubert syndrome 7
Meckel syndrome, type 5
COACH syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA281341870

rs_267604575

3 SubmittersRCV001220267 RCV004017384 RCV005016358

NM_000179.3(MSH6):c.*85T>A

SNV
Germline

Chr2:47806945

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 5
Hereditary cancer
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA016549

rs_2020906

9 SubmittersRCV000202135 RCV002256038 RCV002274909 RCV000986755 RCV003492396 RCV002514327 RCV005364957

NM_000179.3(MSH6):c.-8C>T

SNV
Germline

Chr2:47783226

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Lynch syndrome 5
Lynch syndrome
MSH6-related disorder
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA016627

rs_565211544

16 SubmittersRCV000131026 RCV000587581 RCV000212613 RCV000412463 RCV003997060 RCV004537271 RCV001354724

NM_000179.3(MSH6):c.1082G>A (p.Arg361His)

SNV
Germline/somatic

Chr2:47799065

Conflicting classifications of pathogenicity

Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
MSH6-related disorder

Criteria Provided
Conflicting Classifications

CA007978

rs_63750440

11 SubmittersRCV000074629 RCV000487116 RCV000567227 RCV000409637 RCV000701439 RCV003466931 RCV004739330

NM_000179.3(MSH6):c.1109T>C (p.Leu370Ser)

SNV
Germline

Chr2:47799092

Pathogenic/Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer
Gastric cancer
Lynch syndrome 5
MSH6-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA008059

rs_587779204

15 SubmittersRCV000074633 RCV000162441 RCV000518839 RCV000524101 RCV001201190 RCV003162468 RCV003450922 RCV004739331

NM_000179.3(MSH6):c.1133G>A (p.Arg378Lys)

SNV
Germline

Chr2:47799116

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Carcinoma of colon
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA008097

rs_587779205

8 SubmittersRCV000569385 RCV001290538 RCV001358106 RCV000479933 RCV000629837 RCV003997062 RCV004566915

NM_000179.3(MSH6):c.1144C>T (p.His382Tyr)

SNV
Germline

Chr2:47799127

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
not specified
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA008133

rs_587779207

11 SubmittersRCV000162700 RCV000213163 RCV000411429 RCV000627690 RCV001255541 RCV003460658 RCV003997063

NM_000179.3(MSH6):c.1193T>A (p.Val398Glu)

SNV
Germline

Chr2:47799176

Pathogenic

Lynch syndrome

Reviewed By Expert Panel

CA008305

rs_587779208

1 SubmittersRCV000074641

NM_000179.3(MSH6):c.124C>T (p.Pro42Ser)

SNV
Germline

Chr2:47783357

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 5
not specified
Hereditary nonpolyposis colorectal neoplasms
Carcinoma of colon
Condition: not provided
Breast and/or ovarian cancer
MSH6-related disorder

Criteria Provided
Conflicting Classifications

CA008371

rs_34014629

14 SubmittersRCV000131942 RCV000410444 RCV000422207 RCV000524105 RCV001354476 RCV001719808 RCV003149716 RCV004542739

NM_000179.3(MSH6):c.1273A>G (p.Ile425Val)

SNV
Germline

Chr2:47799256

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Endometrial carcinoma
Condition: not provided

Criteria Provided
Conflicting Classifications

CA008413

rs_63749971

8 SubmittersRCV001063935 RCV003997064 RCV000570856 RCV005620899 RCV003466932 RCV004724790

NM_000179.3(MSH6):c.1299T>A (p.Tyr433Ter)

SNV
Germline

Chr2:47799282

Pathogenic

Lynch syndrome
Condition: not provided
Lynch syndrome 5

Reviewed By Expert Panel

CA008461

rs_267608055

3 SubmittersRCV000074647 RCV003321496 RCV003450924

NM_000179.3(MSH6):c.1304T>C (p.Leu435Pro)

SNV
Germline

Chr2:47799287

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA008468

rs_63751405

6 SubmittersRCV000128873 RCV000214282 RCV000791437 RCV003460660 RCV002288560

NM_000179.3(MSH6):c.1325T>C (p.Ile442Thr)

SNV
Germline

Chr2:47799308

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA008493

rs_587779210

6 SubmittersRCV000568557 RCV000627712 RCV003997065 RCV000213558

NM_000179.3(MSH6):c.1346T>C (p.Leu449Pro)

SNV
Germline

Chr2:47799329

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Condition: not provided
Endometrial carcinoma
Inherited MMR deficiency (Lynch syndrome)

Reviewed By Expert Panel

CA008516

rs_63750741

13 SubmittersRCV000074651 RCV000491070 RCV000576688 RCV000627730 RCV001804803 RCV003137604 RCV003466933 RCV005252731

NM_000179.3(MSH6):c.1402C>T (p.Arg468Cys)

SNV
Germline/somatic

Chr2:47799385

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Mismatch repair cancer syndrome 1
Endometrial carcinoma
MSH6-related disorder
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA008576

rs_369456858

15 SubmittersRCV000074653 RCV000166488 RCV000222213 RCV000587141 RCV000524109 RCV001535649 RCV004566916 RCV004528269 RCV003450925

NM_000179.3(MSH6):c.1444C>T (p.Arg482Ter)

SNV
Germline

Chr2:47799427

Pathogenic

Lynch syndrome
Condition: not provided
Lynch syndrome 5
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Carcinoma of colon
Endometrial carcinoma
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA008614

rs_63750909

21 SubmittersRCV000074656 RCV000215386 RCV000410127 RCV000491001 RCV000524108 RCV001355905 RCV003128135 RCV004794357

NM_000179.3(MSH6):c.1474A>G (p.Met492Val)

SNV
Germline

Chr2:47799457

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 5
Carcinoma of colon
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA008673

rs_61754783

13 SubmittersRCV000212649 RCV000115374 RCV000524111 RCV000587662 RCV005420526 RCV001353728 RCV003997066

NM_000179.3(MSH6):c.1477G>T (p.Glu493Ter)

SNV
Germline

Chr2:47799460

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA008679

rs_267608046

2 SubmittersRCV000074658 RCV005251057

NM_000179.3(MSH6):c.1483C>T (p.Arg495Ter)

SNV
Germline/somatic

Chr2:47799466

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Carcinoma of colon
Endometrial carcinoma
Lynch-like syndrome
Hereditary nonpolyposis colon cancer
Lynch syndrome 5

Reviewed By Expert Panel

CA008701

rs_587779212

25 SubmittersRCV000074659 RCV000202276 RCV000131420 RCV000524112 RCV001353858 RCV003460662 RCV001249984 RCV004700371 RCV003334381

NM_000179.3(MSH6):c.1565A>G (p.Gln522Arg)

SNV
Germline

Chr2:47799548

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
not specified
Endometrial carcinoma
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA008795

rs_63751009

11 SubmittersRCV000219119 RCV000214996 RCV000556355 RCV000662803 RCV001194395 RCV003460663 RCV004786355

NM_000179.3(MSH6):c.1572C>G (p.Tyr524Ter)

SNV
Germline

Chr2:47799555

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary nonpolyposis colon cancer
Lynch syndrome 5

Reviewed By Expert Panel

CA008805

rs_587779215

8 SubmittersRCV000074665 RCV000491949 RCV000798747 RCV002266921 RCV002469003 RCV003450926

NM_000179.3(MSH6):c.1696G>A (p.Gly566Arg)

SNV
Germline

Chr2:47799679

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
not specified
MSH6-related disorder

Criteria Provided
Conflicting Classifications

CA009071

rs_63749973

11 SubmittersRCV000131251 RCV000411714 RCV000212651 RCV001080487 RCV001328467 RCV004542740

NM_000179.3(MSH6):c.1729C>T (p.Arg577Cys)

SNV
Germline

Chr2:47799712

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Hereditary cancer-predisposing syndrome
Endometrial carcinoma
Hereditary nonpolyposis colon cancer
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA009088

rs_542838372

18 SubmittersRCV000115381 RCV000524118 RCV000409690 RCV000491847 RCV003466935 RCV003993789 RCV003235029 RCV003997068

NM_000179.3(MSH6):c.1739C>T (p.Ser580Leu)

SNV
Germline

Chr2:47799722

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
not specified
Endometrial carcinoma
Lynch syndrome 5
Lynch syndrome 5
Endometrial carcinoma
Mismatch repair cancer syndrome 3
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA009108

rs_41295270

14 SubmittersRCV000131189 RCV000524119 RCV000485534 RCV001818236 RCV003466936 RCV004019093 RCV002498356 RCV005357440

NM_000179.3(MSH6):c.1754T>C (p.Leu585Pro)

SNV
Germline/somatic

Chr2:47799737

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
MSH6-related disorder
Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colon cancer
Endometrial carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA009121

rs_587779220

12 SubmittersRCV000219463 RCV000791380 RCV003450930 RCV004537273 RCV000074683 RCV000491054 RCV001290557 RCV003128136

NM_000179.3(MSH6):c.1835C>A (p.Ser612Ter)

SNV
Germline

Chr2:47799818

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided

Reviewed By Expert Panel

CA009299

rs_63750564

5 SubmittersRCV000074690 RCV002408572 RCV003450933 RCV003593866 RCV004696678

NM_000179.3(MSH6):c.1857A>C (p.Glu619Asp)

SNV
Germline

Chr2:47799840

Conflicting classifications of pathogenicity

Lynch syndrome 5
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Lynch syndrome
Mismatch repair cancer syndrome 3

Criteria Provided
Conflicting Classifications

CA009330

rs_63751121

10 SubmittersRCV005420529 RCV000132230 RCV000221704 RCV000524122 RCV003460665 RCV003997069 RCV005357442

NM_000179.3(MSH6):c.1932G>C (p.Arg644Ser)

SNV
Germline

Chr2:47799915

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
Carcinoma of colon
Condition: not provided
MSH6-related disorder
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA009475

rs_34938432

14 SubmittersRCV000074697 RCV000166227 RCV000219792 RCV000409155 RCV000524127 RCV001355116 RCV001703971 RCV004537274 RCV005234963

NM_000179.3(MSH6):c.2006T>C (p.Ile669Thr)

SNV
Germline

Chr2:47799989

Conflicting classifications of pathogenicity

Lynch syndrome 5
Endometrial carcinoma
Mismatch repair cancer syndrome 3
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
not specified
Endometrial carcinoma
Lynch syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA009545

rs_555209664

13 SubmittersRCV005394300 RCV000130794 RCV001083193 RCV000679222 RCV000507463 RCV003460666 RCV003997070 RCV005420531

NM_000179.3(MSH6):c.2057G>A (p.Gly686Asp)

SNV
Germline

Chr2:47800040

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
not specified
Endometrial carcinoma
Hereditary nonpolyposis colon cancer

Reviewed By Expert Panel

CA009620

rs_587779227

17 SubmittersRCV000074709 RCV000128865 RCV000212657 RCV000524130 RCV000576301 RCV000583928 RCV001353773 RCV001526863

NM_000179.3(MSH6):c.2061T>A (p.Cys687Ter)

SNV
Germline

Chr2:47800044

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Endometrial carcinoma
Hereditary nonpolyposis colon cancer
Lynch syndrome 5
MSH6-related disorder

Reviewed By Expert Panel

CA009627

rs_267608068

11 SubmittersRCV000074710 RCV000530716 RCV000162397 RCV000201965 RCV001353419 RCV002222379 RCV003450938 RCV004724791

NM_000179.3(MSH6):c.2080T>C (p.Cys694Arg)

SNV
Germline

Chr2:47800063

Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA009656

rs_587779228

3 SubmittersRCV001186406 RCV000822642 RCV003450940

NM_000179.3(MSH6):c.2092C>G (p.Gln698Glu)

SNV
Germline

Chr2:47800075

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
not specified
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA009674

rs_63750832

13 SubmittersRCV000130187 RCV000480300 RCV000662368 RCV000524131 RCV003320553 RCV003466939

NM_000179.3(MSH6):c.2105C>G (p.Ser702Ter)

SNV
Germline

Chr2:47800088

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Mismatch repair cancer syndrome 3
Endometrial carcinoma
Lynch syndrome 5

Reviewed By Expert Panel

CA009686

rs_63751419

5 SubmittersRCV000074717 RCV000629877 RCV001014449 RCV003450941 RCV002490669

NM_000179.3(MSH6):c.2117T>C (p.Phe706Ser)

SNV
Germline

Chr2:47800100

Likely pathogenic

Lynch syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Reviewed By Expert Panel

CA009702

rs_587779231

8 SubmittersRCV000074718 RCV001530136 RCV001854277 RCV003584540 RCV003137606

NM_000179.3(MSH6):c.2127T>A (p.Tyr709Ter)

SNV
Germline

Chr2:47800110

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Endometrial carcinoma
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 5

Reviewed By Expert Panel

CA009710

rs_587779232

6 SubmittersRCV000074719 RCV000130308 RCV003460669 RCV000690199 RCV003148645 RCV003450942

NM_000179.3(MSH6):c.2177T>A (p.Phe726Tyr)

SNV
Germline

Chr2:47800160

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Condition: not provided
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA009822

rs_574358605

12 SubmittersRCV000524133 RCV000568729 RCV000662512 RCV001582560 RCV003466941 RCV003997072

NM_000179.3(MSH6):c.2183A>C (p.Lys728Thr)

SNV
Germline

Chr2:47800166

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
not specified
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA009828

rs_35552856

6 SubmittersRCV000688768 RCV000221222 RCV000657127 RCV000563245 RCV003997073

NM_000179.3(MSH6):c.2191C>T (p.Gln731Ter)

SNV
Germline

Chr2:47800174

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Reviewed By Expert Panel

CA009848

rs_63751442

4 SubmittersRCV000074725 RCV000490877 RCV001206112 RCV003450943

NM_000179.3(MSH6):c.2194C>T (p.Arg732Ter)

SNV
Germline

Chr2:47800177

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colon cancer
Lynch syndrome 5
MSH6-related disorder

Reviewed By Expert Panel

CA009856

rs_63751127

16 SubmittersRCV000074726 RCV000212661 RCV000524134 RCV003466942 RCV000132226 RCV002281906 RCV003450944 RCV004739332

NM_000179.3(MSH6):c.2282G>A (p.Arg761Lys)

SNV
Germline

Chr2:47800265

Conflicting classifications of pathogenicity

Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA009957

rs_587779233

7 SubmittersRCV000410000 RCV001045519 RCV001284513 RCV002267827 RCV002444527

NM_000179.3(MSH6):c.2314C>T (p.Arg772Trp)

SNV
Germline

Chr2:47800297

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 5
Carcinoma of colon
Endometrial carcinoma

Reviewed By Expert Panel

CA010016

rs_63750138

16 SubmittersRCV000074732 RCV000162422 RCV000524139 RCV000218399 RCV002467437 RCV001353694 RCV003466943

NM_000179.3(MSH6):c.2330G>A (p.Trp777Ter)

SNV
Germline

Chr2:47800313

Pathogenic

Lynch syndrome

Reviewed By Expert Panel

CA010055

rs_587779234

1 SubmittersRCV000074736

NM_000179.3(MSH6):c.2392C>G (p.Leu798Val)

SNV
Germline

Chr2:47800375

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Inherited polyposis and early onset colorectal cancer - germline testing

Criteria Provided
Conflicting Classifications

CA010176

rs_587779238

5 SubmittersRCV000572114 RCV000629860 RCV003997075 RCV005430482

NM_000179.3(MSH6):c.2408A>G (p.Asp803Gly)

SNV
Germline

Chr2:47800391

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Colorectal cancer
not specified
Lynch syndrome 5
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Malignant tumor of breast
Lynch syndrome
Endometrial carcinoma
Lynch syndrome 5
Mismatch repair cancer syndrome 3
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA010206

rs_63751450

18 SubmittersRCV000130124 RCV000148651 RCV000212666 RCV000410826 RCV000586083 RCV000524143 RCV001356592 RCV003997077 RCV003466944 RCV005025118

NM_000179.3(MSH6):c.2503C>T (p.Gln835Ter)

SNV
Germline

Chr2:47800486

Pathogenic

Condition: not provided
Lynch syndrome 5
Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer

Reviewed By Expert Panel

CA010314

rs_63751321

6 SubmittersRCV000520652 RCV003450946 RCV000074750 RCV000218020 RCV001223542 RCV001731360

NM_000179.3(MSH6):c.2561A>T (p.Lys854Met)

SNV
Germline

Chr2:47800544

Conflicting classifications of pathogenicity

not specified
Colorectal cancer
Hereditary cancer-predisposing syndrome
Condition: not provided
Endometrial carcinoma
Mismatch repair cancer syndrome 1
Lynch syndrome 5
Lynch syndrome 1
Carcinoma of colon
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
Breast and/or ovarian cancer
MSH6-related disorder

Criteria Provided
Conflicting Classifications

CA010423

rs_34374438

19 SubmittersRCV000121574 RCV000148652 RCV000129191 RCV000585210 RCV000764424 RCV001093694 RCV001353909 RCV000986723 RCV001083699 RCV003149719 RCV004528270

NM_000179.3(MSH6):c.2597A>C (p.Lys866Thr)

SNV
Germline

Chr2:47800580

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Condition: not provided
Endometrial carcinoma
Lynch syndrome
MSH6-related disorder

Criteria Provided
Conflicting Classifications

CA010469

rs_190075874

13 SubmittersRCV000222631 RCV000479488 RCV000524146 RCV000662498 RCV000759136 RCV003137607 RCV003997079 RCV004542741

NM_000179.3(MSH6):c.2633T>G (p.Val878Gly)

SNV
Germline

Chr2:47800616

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA010648

rs_2020912

6 SubmittersRCV000584072 RCV000630141 RCV000587077 RCV001778700 RCV003997080

NM_000179.3(MSH6):c.2702G>A (p.Arg901His)

SNV
Germline

Chr2:47800685

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA010764

rs_63749889

8 SubmittersRCV000559913 RCV003997081 RCV000570122 RCV001561918 RCV003460671

NM_000179.3(MSH6):c.2714T>A (p.Leu905Ter)

SNV
Germline

Chr2:47800697

Pathogenic

Lynch syndrome

Reviewed By Expert Panel

CA010781

rs_587779245

1 SubmittersRCV000074775

NM_000179.3(MSH6):c.2731C>T (p.Arg911Ter)

SNV
Germline

Chr2:47800714

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Endometrial carcinoma
Condition: not provided
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
Carcinoma of colon
Breast carcinoma
Hereditary nonpolyposis colon cancer
Gastric cancer
Endometrial carcinoma
Lynch syndrome 5
Mismatch repair cancer syndrome 3

Reviewed By Expert Panel

CA010815

rs_63751017

29 SubmittersRCV000074777 RCV000129807 RCV000148645 RCV000202017 RCV000411710 RCV000524149 RCV001353531 RCV001554337 RCV002271398 RCV003162471 RCV002477210

NM_000179.3(MSH6):c.2764C>T (p.Arg922Ter)

SNV
Germline

Chr2:47800747

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
Carcinoma of colon
Hereditary nonpolyposis colon cancer
Gastric cancer
Endometrial carcinoma

Reviewed By Expert Panel

CA010831

rs_587779246

15 SubmittersRCV000074779 RCV002267828 RCV000491845 RCV001262897 RCV001056241 RCV001357595 RCV002281907 RCV003162472 RCV003460672

NM_000179.3(MSH6):c.2815C>T (p.Gln939Ter)

SNV
Germline

Chr2:47800798

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA010943

rs_63750140

4 SubmittersRCV000491935 RCV000074783 RCV003450950 RCV005089501

NM_000179.3(MSH6):c.2906A>C (p.Tyr969Ser)

SNV
Germline

Chr2:47800889

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Endometrial carcinoma
Lynch syndrome 5
MSH6-related disorder
Mismatch repair cancer syndrome 3
Endometrial carcinoma
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA011072

rs_63749919

6 SubmittersRCV000552775 RCV002433573 RCV003477462 RCV003398659 RCV004528271 RCV005394301

NM_000179.3(MSH6):c.2927G>A (p.Arg976His)

SNV
Germline

Chr2:47800910

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 5
Endometrial carcinoma
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA011105

rs_63751113

10 SubmittersRCV000218618 RCV000455514 RCV000629775 RCV002273954 RCV004700372 RCV003460673 RCV005600635

NM_000179.3(MSH6):c.2931C>G (p.Tyr977Ter)

SNV
Germline

Chr2:47800914

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Condition: not provided
Lynch syndrome 5
Endometrial carcinoma

Reviewed By Expert Panel

CA011115

rs_63750111

10 SubmittersRCV000074788 RCV000491868 RCV002514330 RCV001804805 RCV001008655 RCV003450952 RCV004566920

NM_000179.3(MSH6):c.2983G>T (p.Glu995Ter)

SNV
Germline

Chr2:47800966

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1
Lynch syndrome 5
Mismatch repair cancer syndrome 3

Reviewed By Expert Panel

CA011274

rs_63750258

9 SubmittersRCV000074793 RCV000491673 RCV001062414 RCV001269505 RCV001804806 RCV003450954 RCV005364959

NM_000179.3(MSH6):c.3013C>T (p.Arg1005Ter)

SNV
Germline

Chr2:47800996

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Endometrial carcinoma
Hereditary nonpolyposis colon cancer

Reviewed By Expert Panel

CA011340

rs_63750563

22 SubmittersRCV000074795 RCV000202164 RCV000808924 RCV000491215 RCV000624966 RCV003460674 RCV001263506

NM_000179.3(MSH6):c.3020G>A (p.Trp1007Ter)

SNV
Germline

Chr2:47801003

Pathogenic

Mismatch repair cancer syndrome 3
Lynch syndrome
Condition: not provided
Lynch syndrome 5
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA011367

rs_587779252

4 SubmittersRCV000009493 RCV000074796 RCV004696679 RCV000202503 RCV002433574

NM_000179.3(MSH6):c.3067G>T (p.Glu1023Ter)

SNV
Germline

Chr2:47801050

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 5

Reviewed By Expert Panel

CA011483

rs_267608059

8 SubmittersRCV000074801 RCV000491450 RCV000687014 RCV004595907 RCV003450956

NM_000179.3(MSH6):c.3103C>T (p.Arg1035Ter)

SNV
Germline

Chr2:47801086

Pathogenic

Gastric cancer
Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer
Lynch syndrome 5
Lynch syndrome 5
Endometrial carcinoma
Mismatch repair cancer syndrome 3
Endometrial carcinoma

Reviewed By Expert Panel

CA011558

rs_63749999

26 SubmittersRCV003162473 RCV000074803 RCV000223452 RCV000484829 RCV000524153 RCV001194362 RCV003450957 RCV002477211 RCV001355855

NM_000179.3(MSH6):c.3163G>A (p.Ala1055Thr)

SNV
Germline

Chr2:47801146

Conflicting classifications of pathogenicity

Condition: not provided
Lynch syndrome 5
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Mismatch repair cancer syndrome 1
Lynch syndrome 5
Endometrial carcinoma
Endometrial carcinoma
not specified

Criteria Provided
Conflicting Classifications

CA011694

rs_587779254

10 SubmittersRCV000218375 RCV000409200 RCV000565213 RCV000627700 RCV000764427 RCV003460677 RCV003493433

NM_000179.3(MSH6):c.3172+1G>T

SNV
Germline

Chr2:47801156

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Hereditary nonpolyposis colon cancer
Condition: not provided
Lynch syndrome 5

Reviewed By Expert Panel

CA011722

rs_587779255

8 SubmittersRCV000074809 RCV000565688 RCV000627710 RCV003460678 RCV001194394 RCV003114239 RCV003450959

NM_000179.3(MSH6):c.3202C>T (p.Arg1068Ter)

SNV
Germline/somatic

Chr2:47803449

Pathogenic

Lynch syndrome
Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Mismatch repair cancer syndrome 1
Endometrial carcinoma
Lynch syndrome 5
Endometrial carcinoma
Carcinoma of colon
Lynch-like syndrome
Hereditary nonpolyposis colon cancer
Gastric cancer
MSH6-related disorder

Reviewed By Expert Panel

CA011916

rs_63749843

33 SubmittersRCV000074817 RCV000172816 RCV000160692 RCV000201960 RCV000524156 RCV000607176 RCV000763497 RCV001253564 RCV001353539 RCV001249973 RCV003389678 RCV003162474 RCV005229880

NM_000179.3(MSH6):c.3218C>G (p.Pro1073Arg)

SNV
Germline

Chr2:47803465

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA012014

rs_587779257

6 SubmittersRCV000484501 RCV001181943 RCV001209408 RCV003997085 RCV005420536

NM_000179.3(MSH6):c.3226C>T (p.Arg1076Cys)

SNV
Germline

Chr2:47803473

Likely pathogenic

Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Hereditary nonpolyposis colon cancer
Malignant tumor of breast
Breast carcinoma
Breast and/or ovarian cancer
Inherited MMR deficiency (Lynch syndrome)
Inherited prostate cancer
Gastric cancer
Endometrial carcinoma
Lynch syndrome
MSH6-related disorder

Reviewed By Expert Panel

CA012063

rs_63750617

34 SubmittersRCV000074823 RCV000162445 RCV000254700 RCV000524159 RCV000709742 RCV000780464 RCV001356266 RCV001564011 RCV003492400 RCV004808573 RCV004584185 RCV003162475 RCV003466947 RCV003997086 RCV004739334

NM_000179.3(MSH6):c.3245C>T (p.Pro1082Leu)

SNV
Germline

Chr2:47803492

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome
not specified
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Condition: not provided
Lynch syndrome 5
Hereditary cancer
Carcinoma of colon
MSH6-related disorder

Criteria Provided
Conflicting Classifications

CA012135

rs_191109849

19 SubmittersRCV000074824 RCV000115409 RCV000121583 RCV001085899 RCV001093655 RCV000656898 RCV002288561 RCV005234964 RCV001358430 RCV004528272

NM_000179.3(MSH6):c.3259C>A (p.Pro1087Thr)

SNV
Germline

Chr2:47803506

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
MSH6-related disorder
Mismatch repair cancer syndrome 3
Condition: not provided
Lynch syndrome 5
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA012215

rs_63750998

11 SubmittersRCV000131160 RCV001083021 RCV004537277 RCV005357445 RCV000212679 RCV001137558 RCV003153343

NM_000179.3(MSH6):c.3259C>T (p.Pro1087Ser)

SNV
Germline

Chr2:47803506

Conflicting classifications of pathogenicity

Ovarian cancer
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome 5
Mismatch repair cancer syndrome 1
Endometrial carcinoma
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Breast carcinoma
Lynch syndrome 5
Lynch syndrome
MSH6-related disorder

Criteria Provided
Conflicting Classifications

CA012243

rs_63750998

20 SubmittersRCV000148653 RCV000131245 RCV000212678 RCV000764429 RCV000514075 RCV001079820 RCV001262368 RCV003325179 RCV005364960 RCV004537278

NM_000179.3(MSH6):c.3260C>G (p.Pro1087Arg)

SNV
Germline

Chr2:47803507

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Mismatch repair cancer syndrome 1
Lynch syndrome 5
Endometrial carcinoma
Breast and/or ovarian cancer
Lynch syndrome 5
not specified

Criteria Provided
Conflicting Classifications

CA012273

rs_63750753

15 SubmittersRCV000074829 RCV000160725 RCV000524164 RCV000586012 RCV000764430 RCV003149721 RCV004589547 RCV004799777

NM_000179.3(MSH6):c.3284G>A (p.Arg1095His)

SNV
Germline

Chr2:47803531

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
not specified
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA012443

rs_63750253

13 SubmittersRCV000164048 RCV000412287 RCV000524168 RCV000433110 RCV000985842 RCV003997087

NM_000179.3(MSH6):c.3299C>T (p.Thr1100Met)

SNV
Germline

Chr2:47803546

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome
not specified
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Mismatch repair cancer syndrome 1
Lynch syndrome 5
Condition: not provided
Malignant tumor of breast
MSH6-related disorder
Lynch syndrome 5
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA012473

rs_63750442

18 SubmittersRCV000074836 RCV000218926 RCV000223174 RCV000524169 RCV000764431 RCV000587747 RCV001358521 RCV004542742 RCV004019095 RCV003460680

NM_000179.3(MSH6):c.3355G>T (p.Glu1119Ter)

SNV
Germline

Chr2:47803602

Pathogenic

Lynch syndrome

Reviewed By Expert Panel

CA012669

rs_267608084

1 SubmittersRCV000074842

NM_000179.3(MSH6):c.3367G>T (p.Glu1123Ter)

SNV
Germline

Chr2:47803614

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Reviewed By Expert Panel

CA012699

rs_267608086

3 SubmittersRCV000074843 RCV001854282 RCV003450964

NM_000179.3(MSH6):c.3383A>G (p.Tyr1128Cys)

SNV
Germline

Chr2:47803630

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Endometrial carcinoma
Lynch syndrome
Endometrial carcinoma
Lynch syndrome 5
Mismatch repair cancer syndrome 3

Criteria Provided
Conflicting Classifications

CA012724

rs_587779261

7 SubmittersRCV000524174 RCV000573399 RCV001800369 RCV003460682 RCV003997088 RCV005031553

NM_000179.3(MSH6):c.3415G>A (p.Gly1139Ser)

SNV
Germline

Chr2:47803662

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA012775

rs_63751063

4 SubmittersRCV002452190 RCV003454113 RCV005227588 RCV005096266

NM_000179.3(MSH6):c.3425C>T (p.Thr1142Met)

SNV
Germline

Chr2:47803672

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Malignant tumor of breast
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA012799

rs_267608089

15 SubmittersRCV000115415 RCV000212683 RCV000656899 RCV001357449 RCV000524175 RCV002288562 RCV003997089 RCV003460683

NM_000179.3(MSH6):c.3436C>T (p.Gln1146Ter)

SNV
Germline

Chr2:47803683

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Lynch syndrome
Condition: not provided

Reviewed By Expert Panel

CA012815

rs_63750356

5 SubmittersRCV000561009 RCV000629768 RCV003450966 RCV000074849 RCV000657654

NM_000179.3(MSH6):c.3438+1G>A

SNV
Germline

Chr2:47803686

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Reviewed By Expert Panel

CA012865

rs_267608096

3 SubmittersRCV000074854 RCV002453381 RCV003450967

NM_000179.3(MSH6):c.3439-1G>T

SNV
Germline

Chr2:47804909

Likely pathogenic

Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Endometrial carcinoma
Hereditary nonpolyposis colon cancer
Lynch syndrome 5
Endometrial carcinoma
Mismatch repair cancer syndrome 3
Lynch syndrome 5
Inherited MMR deficiency (Lynch syndrome)

Reviewed By Expert Panel

CA012908

rs_587779263

16 SubmittersRCV000074858 RCV000215652 RCV000491481 RCV000629776 RCV002272051 RCV003460684 RCV003483460 RCV002483121 RCV003450968 RCV004808574

NM_000179.3(MSH6):c.3439-2A>G

SNV
Germline

Chr2:47804908

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Endometrial carcinoma
Carcinoma of colon
Hereditary nonpolyposis colon cancer
Breast and/or ovarian cancer
MSH6-related disorder

Reviewed By Expert Panel

CA012917

rs_267608098

19 SubmittersRCV000074859 RCV000130487 RCV000202159 RCV000524176 RCV000576575 RCV001292865 RCV001353640 RCV001526853 RCV001798254 RCV004739335

NM_000179.3(MSH6):c.3469G>A (p.Gly1157Ser)

SNV
Germline

Chr2:47804940

Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Lynch syndrome 5
Lynch syndrome 4
Inherited MMR deficiency (Lynch syndrome)
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA012971

rs_587779264

7 SubmittersRCV000131534 RCV002510780 RCV000202300 RCV003450969 RCV004555853 RCV004584187 RCV002513797

NM_000179.3(MSH6):c.3487G>T (p.Glu1163Ter)

SNV
Germline

Chr2:47804958

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Lynch syndrome 5
Hereditary nonpolyposis colon cancer

Reviewed By Expert Panel

CA013109

rs_587779267

11 SubmittersRCV000074867 RCV000115417 RCV000491292 RCV000791426 RCV003466948 RCV003450970 RCV005406804

NM_000179.3(MSH6):c.3513T>C (p.Asp1171=)

SNV
Germline

Chr2:47804984

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
MSH6-related disorder
Lynch syndrome 5
Mismatch repair cancer syndrome 3
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA013188

rs_63749834

14 SubmittersRCV000163879 RCV000524179 RCV000433073 RCV000662442 RCV001081095 RCV003997091 RCV004542743 RCV005394304

NM_000179.3(MSH6):c.3543C>G (p.Asp1181Glu)

SNV
Germline

Chr2:47805014

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Lynch syndrome
not specified
Endometrial carcinoma
Lynch syndrome 5
Mismatch repair cancer syndrome 3

Criteria Provided
Conflicting Classifications

CA013331

rs_267608100

10 SubmittersRCV000486053 RCV000556518 RCV000565574 RCV000662821 RCV003997092 RCV002267830 RCV005394305

NM_000179.3(MSH6):c.3563G>A (p.Ser1188Asn)

SNV
Germline

Chr2:47805624

Conflicting classifications of pathogenicity

Condition: not provided
Endometrial carcinoma
Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA013469

rs_587779272

9 SubmittersRCV000478227 RCV004566921 RCV004804043 RCV000582224 RCV000685790 RCV003450973

NM_000179.3(MSH6):c.3577G>A (p.Glu1193Lys)

SNV
Germline

Chr2:47805638

Pathogenic/Likely pathogenic

Endometrial carcinoma
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer
Lynch syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA013478

rs_63751328

8 SubmittersRCV003460687 RCV000166108 RCV000679239 RCV001302789 RCV003230394 RCV003997093 RCV003450974

NM_000179.3(MSH6):c.3605T>C (p.Met1202Thr)

SNV
Germline

Chr2:47805666

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Mismatch repair cancer syndrome 1
Lynch syndrome 5
Endometrial carcinoma
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA013519

rs_587779273

10 SubmittersRCV000129370 RCV000212685 RCV000524181 RCV000662842 RCV000764434 RCV003987347 RCV003997094

NM_000179.3(MSH6):c.3647-1G>A

SNV
Germline

Chr2:47806203

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Condition: not provided

Reviewed By Expert Panel

CA013645

rs_587779279

11 SubmittersRCV000074902 RCV000491917 RCV000791366 RCV002467438 RCV001781398

NM_000179.3(MSH6):c.3647-2A>C

SNV
Germline

Chr2:47806202

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA013656

rs_267608111

7 SubmittersRCV000074903 RCV002345375 RCV003335091 RCV001531316 RCV001854283

NM_000179.3(MSH6):c.3656C>T (p.Thr1219Ile)

SNV
Germline/somatic

Chr2:47806213

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Neoplasm
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA013759

rs_63750949

5 SubmittersRCV000572978 RCV001222841 RCV004668770 RCV003450976

NM_000179.3(MSH6):c.3674C>T (p.Thr1225Met)

SNV
Germline

Chr2:47806231

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
not specified
Malignant tumor of breast
Ovarian cancer
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA013768

rs_63750370

16 SubmittersRCV000160696 RCV000212686 RCV000410774 RCV000524182 RCV000780485 RCV001354592 RCV003153344 RCV003460688 RCV003997095

NM_000179.3(MSH6):c.3679A>T (p.Ile1227Leu)

SNV
Germline

Chr2:47806236

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA013789

rs_587779282

9 SubmittersRCV000574037 RCV000217680 RCV000625244 RCV001854284 RCV004566922

NM_000179.3(MSH6):c.3724C>A (p.Arg1242Ser)

SNV
Germline

Chr2:47806281

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA014030

rs_587779285

7 SubmittersRCV000216969 RCV000684809 RCV000767045 RCV003460689 RCV004017385

NM_000179.3(MSH6):c.3762A>T (p.Glu1254Asp)

SNV
Germline

Chr2:47806319

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
MSH6-related disorder
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA014214

rs_375459388

13 SubmittersRCV000160699 RCV000212689 RCV000408995 RCV000524187 RCV000587284 RCV004537280 RCV003997096

NM_000179.3(MSH6):c.3768T>G (p.Tyr1256Ter)

SNV
Germline

Chr2:47806325

Pathogenic

Lynch syndrome
Condition: not provided
Lynch syndrome 5
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Lynch syndrome 5
Mismatch repair cancer syndrome 1

Reviewed By Expert Panel

CA014232

rs_63751058

13 SubmittersRCV000074926 RCV000202271 RCV003450979 RCV000491038 RCV000546623 RCV003460691 RCV003483461

NM_000179.3(MSH6):c.3772C>T (p.Gln1258Ter)

SNV
Germline

Chr2:47806329

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided

Reviewed By Expert Panel

CA014244

rs_63750554

3 SubmittersRCV000074927 RCV003593872 RCV004696680

NM_000179.3(MSH6):c.3787C>T (p.Arg1263Cys)

SNV
Germline

Chr2:47806344

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Condition: not provided
Endometrial carcinoma
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA014275

rs_367912290

12 SubmittersRCV000164843 RCV000559935 RCV000659897 RCV000485038 RCV003460692 RCV003235031 RCV004804044

NM_000179.3(MSH6):c.3838C>T (p.Gln1280Ter)

SNV
Germline

Chr2:47806488

Pathogenic

Lynch syndrome
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA014495

rs_63750139

8 SubmittersRCV000074940 RCV000603416 RCV001229855 RCV001723643 RCV002362701

NM_000179.3(MSH6):c.383G>T (p.Arg128Leu)

SNV
Germline

Chr2:47791049

Conflicting classifications of pathogenicity

Lynch syndrome 5
Lynch syndrome
Hereditary cancer-predisposing syndrome
Mismatch repair cancer syndrome 1
Lynch syndrome 5
Endometrial carcinoma
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
not specified
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA014504

rs_63750143

12 SubmittersRCV005600636 RCV000074941 RCV000165162 RCV000765680 RCV000485426 RCV000545223 RCV002265595 RCV004566923

NM_000179.3(MSH6):c.3851C>T (p.Thr1284Met)

SNV
Germline

Chr2:47806501

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Endometrial carcinoma
Carcinoma of colon
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA014580

rs_63750836

15 SubmittersRCV000131709 RCV000454725 RCV000759868 RCV001082428 RCV000662523 RCV003448259 RCV001357732 RCV003492403

NM_000179.3(MSH6):c.3930G>C (p.Glu1310Asp)

SNV
Germline

Chr2:47806580

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 5
not specified
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA014716

rs_267608129

9 SubmittersRCV000129017 RCV000524194 RCV001548132 RCV005600637 RCV001804807 RCV003997097 RCV004566924

NM_000179.3(MSH6):c.3961A>G (p.Arg1321Gly)

SNV
Germline

Chr2:47806611

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Colorectal cancer, early onset
Condition: not provided
not specified
Hereditary nonpolyposis colorectal neoplasms
MSH6-related disorder
Malignant tumor of breast

Criteria Provided
Conflicting Classifications

CA014874

rs_41295278

22 SubmittersRCV000074958 RCV000115425 RCV000410058 RCV000148646 RCV000590664 RCV000202255 RCV001082577 RCV004528273 RCV001355442

NM_000179.3(MSH6):c.4001+2T>C

SNV
Germline

Chr2:47806653

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 5

Reviewed By Expert Panel

CA015138

rs_267608131

7 SubmittersRCV000074969 RCV000491060 RCV000812440 RCV002267832 RCV003450986

NM_000179.3(MSH6):c.4001G>A (p.Arg1334Gln)

SNV
Germline

Chr2:47806651

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Endometrial carcinoma
Hereditary nonpolyposis colon cancer

Reviewed By Expert Panel

CA015202

rs_267608122

20 SubmittersRCV000074974 RCV000160701 RCV000491705 RCV000542786 RCV000576708 RCV001355904 RCV004799778

NM_000179.3(MSH6):c.4002-10T>A

SNV
Germline

Chr2:47806769

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
See cases
Breast and/or ovarian cancer
MSH6-related disorder
Carcinoma of colon

Criteria Provided
Conflicting Classifications

CA015230

rs_545466048

19 SubmittersRCV000160702 RCV000771079 RCV000986753 RCV001081736 RCV000590285 RCV002287361 RCV003149725 RCV004542745 RCV001357666

NM_000179.3(MSH6):c.426G>A (p.Trp142Ter)

SNV
Germline

Chr2:47791092

Pathogenic

Lynch syndrome
Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Condition: not provided
Endometrial carcinoma

Reviewed By Expert Panel

CA015491

rs_63750342

6 SubmittersRCV000074987 RCV000144625 RCV002326786 RCV003450987 RCV003311675 RCV003460698

NM_000179.3(MSH6):c.457+2T>A

SNV
Germline

Chr2:47791125

Pathogenic

Lynch syndrome

Reviewed By Expert Panel

CA015582

rs_267608036

1 SubmittersRCV000074993

NM_000179.3(MSH6):c.458-17A>G

SNV
Germline

Chr2:47795877

Conflicting classifications of pathogenicity

Lynch syndrome 5
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA015619

rs_554847828

5 SubmittersRCV000662516 RCV000774587 RCV001854287

NM_000179.3(MSH6):c.458-1G>A

SNV
Germline

Chr2:47795893

Likely pathogenic

Lynch syndrome 5
Lynch syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA015627

rs_267608035

4 SubmittersRCV003450988 RCV000075000 RCV001190339

NM_000179.3(MSH6):c.467C>G (p.Ser156Ter)

SNV
Germline

Chr2:47795903

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Lynch syndrome 1
Carcinoma of colon
MSH6-related disorder
Endometrial carcinoma
Hereditary nonpolyposis colon cancer

Reviewed By Expert Panel

CA015662

rs_63749873

20 SubmittersRCV000075003 RCV000201956 RCV000490955 RCV000524207 RCV000576312 RCV000172813 RCV001357340 RCV004739337 RCV003466952 RCV004782043

NM_000179.3(MSH6):c.599C>A (p.Ser200Ter)

SNV
Germline

Chr2:47796035

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided

Reviewed By Expert Panel

CA015935

rs_63751077

3 SubmittersRCV000075008 RCV005089502 RCV004814996

NM_000179.3(MSH6):c.642C>A (p.Tyr214Ter)

SNV
Germline

Chr2:47798625

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA016077

rs_1800937

4 SubmittersRCV000075015 RCV001071476 RCV003162479

NM_000179.3(MSH6):c.642C>G (p.Tyr214Ter)

SNV
Germline

Chr2:47798625

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Mismatch repair cancer syndrome 3
Endometrial carcinoma
Lynch syndrome 5

Reviewed By Expert Panel

CA016086

rs_1800937

9 SubmittersRCV000485263 RCV001025256 RCV003450990 RCV000075016 RCV000703480 RCV002477214

NM_000179.3(MSH6):c.652A>T (p.Lys218Ter)

SNV
Germline

Chr2:47798635

Pathogenic

Lynch syndrome
Malignant tumor of breast
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA016159

rs_587779315

4 SubmittersRCV000075019 RCV001355616 RCV001386352 RCV002362702

NM_000179.3(MSH6):c.663A>C (p.Glu221Asp)

SNV
Germline

Chr2:47798646

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary nonpolyposis colorectal neoplasms
Abnormality of the ovary
Breast and/or ovarian cancer
Condition: not provided
Lynch syndrome 5
Carcinoma of colon
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA016186

rs_41557217

26 SubmittersRCV000115440 RCV000121575 RCV001083709 RCV001564013 RCV001798257 RCV000588752 RCV000659887 RCV001353587 RCV003492405

NM_000179.3(MSH6):c.694C>T (p.Gln232Ter)

SNV
Germline

Chr2:47798677

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Endometrial carcinoma
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA016261

rs_587779318

11 SubmittersRCV000075025 RCV000412800 RCV001383732 RCV003450991 RCV003460700 RCV002362703

NM_000179.3(MSH6):c.706C>T (p.Gln236Ter)

SNV
Germline

Chr2:47798689

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA016297

rs_63750996

2 SubmittersRCV000075026 RCV002362704

NM_000179.3(MSH6):c.718C>T (p.Arg240Ter)

SNV
Germline

Chr2:47798701

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Carcinoma of colon
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Endometrial carcinoma
Inherited MMR deficiency (Lynch syndrome)
Lynch syndrome 5

Reviewed By Expert Panel

CA016325

rs_63750019

18 SubmittersRCV000075028 RCV000220361 RCV001310159 RCV001358367 RCV000704209 RCV000657653 RCV003460701 RCV005237500 RCV002288564

NM_000179.3(MSH6):c.730C>T (p.Gln244Ter)

SNV
Germline

Chr2:47798713

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided

Reviewed By Expert Panel

CA016353

rs_267608066

6 SubmittersRCV000075029 RCV002381377 RCV000984323 RCV002513799 RCV003144122

NM_000179.3(MSH6):c.73G>T (p.Ala25Ser)

SNV
Germline

Chr2:47783306

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome
not specified
Condition: not provided
Endometrial carcinoma
Mismatch repair cancer syndrome 1
Lynch syndrome 5
Hereditary breast ovarian cancer syndrome
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Lynch syndrome 5
Mismatch repair cancer syndrome 3
MSH6-related disorder
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA016371

rs_267608026

20 SubmittersRCV000115442 RCV000075031 RCV000417385 RCV000524214 RCV000765674 RCV003482130 RCV001082180 RCV005394306 RCV004528274 RCV005420539

NM_000179.3(MSH6):c.742C>T (p.Arg248Ter)

SNV
Germline

Chr2:47798725

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer
Endometrial carcinoma
Lynch syndrome 5

Reviewed By Expert Panel

CA016391

rs_63749980

15 SubmittersRCV000486750 RCV000490932 RCV000075032 RCV000524215 RCV001193103 RCV003460702 RCV002288565

NM_000179.3(MSH6):c.751A>G (p.Ile251Val)

SNV
Germline

Chr2:47798734

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA016421

rs_554884560

8 SubmittersRCV000215096 RCV000220612 RCV000630227 RCV000662409 RCV003460703 RCV003997102

NM_000179.3(MSH6):c.753A>G (p.Ile251Met)

SNV
Germline

Chr2:47798736

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 5
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA016429

rs_587779321

7 SubmittersRCV000506023 RCV001026537 RCV000803732 RCV004767059 RCV005357450 RCV003997103

NM_000179.3(MSH6):c.755C>G (p.Ser252Ter)

SNV
Germline

Chr2:47798738

Pathogenic

Lynch syndrome
Endometrial carcinoma
Lynch syndrome 5

Reviewed By Expert Panel

CA016437

rs_267608048

3 SubmittersRCV000075035 RCV001354709 RCV003450992

NM_000179.3(MSH6):c.806C>G (p.Thr269Ser)

SNV
Germline

Chr2:47798789

Conflicting classifications of pathogenicity

Condition: not provided
Mismatch repair cancer syndrome 3
Endometrial carcinoma
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA016470

rs_587779322

8 SubmittersRCV000759873 RCV002504983 RCV000684794 RCV000568144 RCV002267836 RCV003997104

NM_000179.3(MSH6):c.814G>T (p.Glu272Ter)

SNV
Germline

Chr2:47798797

Pathogenic

Lynch syndrome
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA016485

rs_63750552

3 SubmittersRCV000075038 RCV003450994 RCV005089503

NM_000179.3(MSH6):c.854G>T (p.Ser285Ile)

SNV
Germline

Chr2:47798837

Conflicting classifications of pathogenicity

Colorectal cancer
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome
Endometrial carcinoma
Endometrial carcinoma
Lynch syndrome 5
Mismatch repair cancer syndrome 3

Criteria Provided
Conflicting Classifications

CA016543

rs_63750878

11 SubmittersRCV000148648 RCV000160657 RCV000212635 RCV000556949 RCV001174593 RCV003997105 RCV004566926 RCV005025120

NM_000179.3(MSH6):c.884A>G (p.Lys295Arg)

SNV
Germline

Chr2:47798867

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
not specified
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA016588

rs_267608051

18 SubmittersRCV000075042 RCV000115445 RCV000410872 RCV000512927 RCV000524217 RCV000212636 RCV004700373

NM_000179.3(MSH6):c.892C>T (p.Arg298Ter)

SNV
Germline

Chr2:47798875

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Lynch syndrome 5
Endometrial carcinoma
Lynch syndrome 5
Mismatch repair cancer syndrome 3

Reviewed By Expert Panel

CA016604

rs_146816935

15 SubmittersRCV000075043 RCV000149892 RCV000130865 RCV000551832 RCV003466953 RCV003450996 RCV005394307

NM_000249.4(MLH1):c.1013A>G (p.Asn338Ser)

SNV
Germline

Chr3:37020438

Conflicting classifications of pathogenicity

Colorectal cancer, non-polyposis
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
not specified
Colorectal cancer, hereditary nonpolyposis, type 2
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Hereditary cancer
Malignant tumor of breast
Lynch syndrome
Hereditary breast ovarian cancer syndrome
MLH1-related disorder
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Conflicting Classifications

CA004051

rs_63751467

20 SubmittersRCV000148621 RCV000128912 RCV000524219 RCV000656860 RCV000220791 RCV000764485 RCV004700374 RCV001356843 RCV003997106 RCV003483462 RCV004748551 RCV005246613

NM_000249.4(MLH1):c.1037A>G (p.Gln346Arg)

SNV
Germline

Chr3:37020462

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA004077

rs_63751609

2 SubmittersRCV000075079 RCV003593873

NM_000249.4(MLH1):c.1038+1G>C

SNV
Germline/somatic

Chr3:37020464

Likely pathogenic

Lynch syndrome
Lynch-like syndrome
Lynch syndrome 1
Colorectal cancer, hereditary nonpolyposis, type 2
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA004088

rs_267607816

6 SubmittersRCV000075082 RCV001249908 RCV001093692 RCV003450998 RCV005357454 RCV002514334

NM_000249.4(MLH1):c.1038G>A (p.Gln346=)

SNV
Germline

Chr3:37020463

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA004100

rs_63751715

10 SubmittersRCV000075085 RCV000506818 RCV000629976 RCV000214854 RCV003450999

NM_000249.4(MLH1):c.1038G>C (p.Gln346His)

SNV
Germline

Chr3:37020463

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA004104

rs_63751715

3 SubmittersRCV000075086 RCV002390211 RCV002243695

NM_000249.4(MLH1):c.1038G>T (p.Gln346His)

SNV
Germline

Chr3:37020463

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA004107

rs_63751715

2 SubmittersRCV000075087 RCV002390212

NM_000249.4(MLH1):c.1039-1G>A

SNV
Germline

Chr3:37025636

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA004114

rs_267607819

10 SubmittersRCV000075088 RCV000153506 RCV001201713 RCV003451000 RCV002390213

NM_000249.4(MLH1):c.1039-2A>G

SNV
Germline/somatic

Chr3:37025635

Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
MLH1-related disorder
Familial cancer of breast

Reviewed By Expert Panel

CA004118

rs_267607815

7 SubmittersRCV000075090 RCV002514335 RCV003441739 RCV003137609 RCV003390766 RCV005357455

NM_000249.4(MLH1):c.1039-2A>T

SNV
Germline

Chr3:37025635

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA004123

rs_267607815

2 SubmittersRCV000075091 RCV003162481

NM_000249.4(MLH1):c.104T>G (p.Met35Arg)

SNV
Germline

Chr3:36993651

Pathogenic

Condition: not provided
Lynch syndrome
Hereditary cancer-predisposing syndrome
Carcinoma of colon
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA004200

rs_63749906

5 SubmittersRCV001269567 RCV000075100 RCV002399429 RCV001353714 RCV003451002

NM_000249.4(MLH1):c.109G>A (p.Glu37Lys)

SNV
Germline/somatic

Chr3:36993656

Pathogenic/Likely pathogenic

Lynch syndrome
Carcinoma of colon
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA004328

rs_63751012

4 SubmittersRCV000075110 RCV001357016 RCV000693918 RCV003451004

NM_000249.4(MLH1):c.109G>T (p.Glu37Ter)

SNV
Germline

Chr3:36993656

Pathogenic

Lynch syndrome

Reviewed By Expert Panel

CA004335

rs_63751012

1 SubmittersRCV000075111

NM_000249.4(MLH1):c.112A>C (p.Asn38His)

SNV
Germline

Chr3:36993659

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA004399

rs_63750580

5 SubmittersRCV000129232 RCV000075115 RCV001034681 RCV001804811 RCV003451006

NM_000249.4(MLH1):c.113A>G (p.Asn38Ser)

SNV
Germline

Chr3:36993660

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA004445

rs_587778888

3 SubmittersRCV000075118 RCV000688444 RCV004943740

NM_000249.4(MLH1):c.114C>G (p.Asn38Lys)

SNV
Germline

Chr3:36993661

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA004476

rs_267607706

5 SubmittersRCV000075121 RCV001206557 RCV001176886 RCV003451007

NM_000249.4(MLH1):c.1153C>T (p.Arg385Cys)

SNV
Germline

Chr3:37025751

Conflicting classifications of pathogenicity

Lynch syndrome
not specified
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Breast and/or ovarian cancer
Hereditary cancer
Childhood neoplasm

Criteria Provided
Conflicting Classifications

CA004503

rs_63750760

16 SubmittersRCV000075124 RCV000202088 RCV000217569 RCV000524225 RCV000490290 RCV001030628 RCV000656862 RCV000764489 RCV003149731 RCV003492407 RCV005621869

NM_000249.4(MLH1):c.116+1G>A

SNV
Germline

Chr3:36993664

Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Mismatch repair cancer syndrome 1
Colorectal cancer, hereditary nonpolyposis, type 2
Condition: not provided
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA004527

rs_267607709

8 SubmittersRCV000075127 RCV002514337 RCV001294059 RCV000709737 RCV001284001 RCV002354257

NM_000249.4(MLH1):c.116+5G>C

SNV
Germline

Chr3:36993668

Pathogenic

Condition: not provided
Lynch syndrome
Carcinoma of colon
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA004556

rs_267607710

7 SubmittersRCV000413453 RCV000075129 RCV001358274 RCV000776333 RCV000694368 RCV003451008

NM_000249.4(MLH1):c.1165C>T (p.Arg389Trp)

SNV
Germline

Chr3:37025763

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Conflicting Classifications

CA004549

rs_61751644

10 SubmittersRCV000075132 RCV000165994 RCV000627719 RCV000582826 RCV001563149 RCV003444197

NM_000249.4(MLH1):c.1171C>T (p.Gln391Ter)

SNV
Germline

Chr3:37025769

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA004606

rs_587778894

5 SubmittersRCV000075144 RCV001034673 RCV002288566 RCV005357457

NM_000249.4(MLH1):c.1192C>T (p.Gln398Ter)

SNV
Germline

Chr3:37025790

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA004676

rs_63750483

4 SubmittersRCV000075146 RCV001383026 RCV002336222 RCV003451011

NM_000249.4(MLH1):c.121G>C (p.Asp41His)

SNV
Germline

Chr3:36996623

Pathogenic

Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided

Reviewed By Expert Panel

CA004758

rs_267607713

3 SubmittersRCV000075155 RCV003593875 RCV000255808

NM_000249.4(MLH1):c.1225C>T (p.Gln409Ter)

SNV
Germline

Chr3:37025823

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Reviewed By Expert Panel

CA004765

rs_63751153

6 SubmittersRCV000075156 RCV000541219 RCV003451013 RCV002362706 RCV005229881

NM_000249.4(MLH1):c.122A>G (p.Asp41Gly)

SNV
Germline

Chr3:36996624

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA004780

rs_63751094

5 SubmittersRCV000675183 RCV001216631 RCV003451014 RCV002362707

NM_000249.4(MLH1):c.1266C>T (p.Gly422=)

SNV
Germline

Chr3:37025864

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Condition: not provided
not specified
Lynch syndrome
MLH1-related disorder

Criteria Provided
Conflicting Classifications

CA004884

rs_63750791

13 SubmittersRCV000218731 RCV000524230 RCV000662538 RCV001355583 RCV001818238 RCV003997107 RCV004748552

NM_000249.4(MLH1):c.1276C>T (p.Gln426Ter)

SNV
Germline

Chr3:37025874

Pathogenic

Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA004908

rs_63750316

8 SubmittersRCV003129769 RCV000075164 RCV000571335 RCV000690382

NM_000249.4(MLH1):c.1327A>C (p.Lys443Gln)

SNV
Germline

Chr3:37025925

Conflicting classifications of pathogenicity

Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA004995

rs_34213726

6 SubmittersRCV000144608 RCV000219360 RCV000697163 RCV001703974 RCV003997108

NM_000249.4(MLH1):c.1409+1G>A

SNV
Germline

Chr3:37026008

Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colon cancer

Reviewed By Expert Panel

CA005246

rs_267607825

10 SubmittersRCV000220831 RCV000075192 RCV000519388 RCV000524237 RCV003451024 RCV004782044

NM_000249.4(MLH1):c.1409+1G>C

SNV
Germline

Chr3:37026008

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colon cancer
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA005254

rs_267607825

6 SubmittersRCV000075193 RCV002281908 RCV005357460 RCV002390216 RCV002513800 RCV003451025

NM_000249.4(MLH1):c.1409+2T>G

SNV
Germline

Chr3:37026009

Likely pathogenic

Lynch syndrome

Reviewed By Expert Panel

CA005261

rs_587778911

1 SubmittersRCV000075194

NM_000249.4(MLH1):c.1420C>T (p.Arg474Trp)

SNV
Germline/somatic

Chr3:37028794

Conflicting classifications of pathogenicity

Lynch syndrome
Condition: not provided
not specified
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Conflicting Classifications

CA005399

rs_147939838

10 SubmittersRCV000075209 RCV000679267 RCV004689443 RCV000820563 RCV001011503 RCV003460706

NM_000249.4(MLH1):c.1421G>A (p.Arg474Gln)

SNV
Germline

Chr3:37028795

Conflicting classifications of pathogenicity

Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA005413

rs_63751083

10 SubmittersRCV000662517 RCV000685340 RCV000776166 RCV002247468 RCV003129770 RCV003997111

NM_000249.4(MLH1):c.142C>T (p.Gln48Ter)

SNV
Germline

Chr3:36996644

Pathogenic

Lynch syndrome
Breast and/or ovarian cancer
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA005419

rs_587778913

8 SubmittersRCV000075212 RCV001270940 RCV000219426 RCV001214512 RCV002390218 RCV003451027

NM_000249.4(MLH1):c.143A>C (p.Gln48Pro)

SNV
Germline

Chr3:36996645

Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA005432

rs_587778914

4 SubmittersRCV000075213 RCV001069994 RCV003451028 RCV004943741

NM_000249.4(MLH1):c.1459C>T (p.Arg487Ter)

SNV
Germline/somatic

Chr3:37028833

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Colorectal cancer, hereditary nonpolyposis, type 2
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Lynch-like syndrome
Lynch syndrome 1
Carcinoma of colon
MLH1-related disorder

Reviewed By Expert Panel

CA005475

rs_63749795

24 SubmittersRCV000075218 RCV000128870 RCV000255034 RCV000524240 RCV000662808 RCV000763103 RCV001249944 RCV001093677 RCV001353584 RCV004748554

NM_000249.4(MLH1):c.1460G>A (p.Arg487Gln)

SNV
Germline

Chr3:37028834

Conflicting classifications of pathogenicity

Condition: not provided
Breast and/or ovarian cancer
not specified
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA005483

rs_587778917

12 SubmittersRCV000480533 RCV003492408 RCV004595908 RCV000218037 RCV000630048 RCV001257464 RCV003997113

NM_000249.4(MLH1):c.1462A>T (p.Lys488Ter)

SNV
Germline

Chr3:37028836

Pathogenic

Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA005491

rs_587778918

2 SubmittersRCV000075220 RCV005600639

NM_000249.4(MLH1):c.146T>A (p.Val49Glu)

SNV
Germline

Chr3:36996648

Pathogenic

Lynch syndrome
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA005522

rs_63750098

2 SubmittersRCV000075223 RCV005394310

NM_000249.4(MLH1):c.1474G>A (p.Ala492Thr)

SNV
Germline

Chr3:37028848

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
not specified
Colorectal cancer, hereditary nonpolyposis, type 2
Colorectal cancer, hereditary nonpolyposis, type 2
Mismatch repair cancer syndrome 1
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA005528

rs_63751145

13 SubmittersRCV000075224 RCV000132236 RCV000212538 RCV000524241 RCV003478994 RCV003474657 RCV005394311

NM_000249.4(MLH1):c.1487C>G (p.Pro496Arg)

SNV
Germline

Chr3:37028861

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome
not specified

Criteria Provided
Conflicting Classifications

CA005534

rs_63750226

13 SubmittersRCV000221321 RCV000409591 RCV000483364 RCV000627722 RCV000764493 RCV003997114 RCV002228178

NM_000249.4(MLH1):c.1528C>T (p.Gln510Ter)

SNV
Germline

Chr3:37028902

Pathogenic

Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA005676

rs_63749923

4 SubmittersRCV000075235 RCV003451030 RCV000699744 RCV002390219

NM_000249.4(MLH1):c.1534G>T (p.Glu512Ter)

SNV
Germline

Chr3:37028908

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA005696

rs_63751472

5 SubmittersRCV000075236 RCV002399430 RCV003451031 RCV001786332 RCV001854291

NM_000249.4(MLH1):c.1549G>T (p.Gly517Ter)

SNV
Germline

Chr3:37028923

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA005724

rs_63751705

2 SubmittersRCV000075239 RCV002399431

NM_000249.4(MLH1):c.1558+1G>T

SNV
Germline

Chr3:37028933

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome 1

Reviewed By Expert Panel

CA005817

rs_267607832

4 SubmittersRCV000075246 RCV002399432 RCV003315592 RCV001804813

NM_000249.4(MLH1):c.1558+2T>G

SNV
Germline

Chr3:37028934

Likely pathogenic

Lynch syndrome

Reviewed By Expert Panel

CA005833

rs_267607831

1 SubmittersRCV000075248

NM_000249.4(MLH1):c.1559-1G>A

SNV
Germline

Chr3:37040185

Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Carcinoma of colon
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA005884

rs_267607837

6 SubmittersRCV000075253 RCV001238289 RCV001267988 RCV002399433 RCV001358119 RCV003451032

NM_000249.4(MLH1):c.1559-1G>C

SNV
Germline

Chr3:37040185

Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
Muir-Torré syndrome
Hereditary nonpolyposis colon cancer

Reviewed By Expert Panel

CA005891

rs_267607837

8 SubmittersRCV000075254 RCV000539690 RCV001012154 RCV001091800 RCV003455989 RCV003448260 RCV005237501

NM_000249.4(MLH1):c.1559-1G>T

SNV
Germline

Chr3:37040185

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA005896

rs_267607837

9 SubmittersRCV000075255 RCV000485205 RCV002399434 RCV000799045 RCV001193241 RCV003451033

NM_000249.4(MLH1):c.1559-2A>C

SNV
Germline

Chr3:37040184

Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Condition: not provided

Reviewed By Expert Panel

CA005902

rs_267607836

4 SubmittersRCV000075256 RCV000524243 RCV003451034 RCV004696681

NM_000249.4(MLH1):c.1559-2A>G

SNV
Germline

Chr3:37040184

Pathogenic

Lynch syndrome
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA005907

rs_267607836

7 SubmittersRCV000075257 RCV000520869 RCV000410283 RCV001201368 RCV004943742

NM_000249.4(MLH1):c.1559-2A>T

SNV
Germline

Chr3:37040184

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA005913

rs_267607836

2 SubmittersRCV000075258 RCV002399435

NM_000249.4(MLH1):c.1565G>A (p.Arg522Gln)

SNV
Germline

Chr3:37040192

Conflicting classifications of pathogenicity

Lynch syndrome
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Colorectal cancer, hereditary nonpolyposis, type 2
Mismatch repair cancer syndrome 1
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA005937

rs_63751630

15 SubmittersRCV000075265 RCV000483197 RCV000662491 RCV000627718 RCV000566893 RCV001778702 RCV005025121

NM_000249.4(MLH1):c.1574T>A (p.Leu525Ter)

SNV
Germline

Chr3:37040201

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA005996

rs_587778929

4 SubmittersRCV000075271 RCV001180387 RCV003451038

NM_000249.4(MLH1):c.1609C>T (p.Gln537Ter)

SNV
Germline

Chr3:37040236

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Condition: not provided
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA006033

rs_63751277

5 SubmittersRCV000075275 RCV002513801 RCV003451039 RCV001354465 RCV002390220

NM_000249.4(MLH1):c.1613G>A (p.Trp538Ter)

SNV
Germline

Chr3:37040240

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA006106

rs_587778933

4 SubmittersRCV000075276 RCV000545817 RCV000567360 RCV003451040

NM_000249.4(MLH1):c.1614G>A (p.Trp538Ter)

SNV
Germline

Chr3:37040241

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA006115

rs_267607842

3 SubmittersRCV000075277 RCV002399437 RCV003451041

NM_000249.4(MLH1):c.1624C>T (p.Gln542Ter)

SNV
Germline

Chr3:37040251

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA006166

rs_63750192

7 SubmittersRCV000075283 RCV000657575 RCV001201351 RCV002399438 RCV003451042

NM_000249.4(MLH1):c.1633A>G (p.Thr545Ala)

SNV
Germline

Chr3:37040260

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Colorectal cancer, hereditary nonpolyposis, type 2
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
MLH1-related disorder
Lynch syndrome
Breast and/or ovarian cancer
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Conflicting Classifications

CA006190

rs_267607840

21 SubmittersRCV000130610 RCV000212542 RCV000606136 RCV000656863 RCV000524244 RCV003935009 RCV003997116 RCV003492409 RCV005025122

NM_000249.4(MLH1):c.1640T>A (p.Leu547Ter)

SNV
Germline

Chr3:37040267

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA006204

rs_63750300

3 SubmittersRCV000075288 RCV002399439 RCV002514340

NM_000249.4(MLH1):c.1644C>G (p.Tyr548Ter)

SNV
Germline

Chr3:37040271

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA006215

rs_63751087

2 SubmittersRCV000075289 RCV002399440

NM_000249.4(MLH1):c.1649T>C (p.Leu550Pro)

SNV
Germline

Chr3:37040276

Pathogenic

Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA006231

rs_63750193

4 SubmittersRCV000075292 RCV001212034 RCV000570739 RCV003451045

NM_000249.4(MLH1):c.1664T>C (p.Leu555Pro)

SNV
Germline

Chr3:37040291

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA006269

rs_587778937

3 SubmittersRCV000075296 RCV002399441 RCV003451046

NM_000249.4(MLH1):c.1667G>T (p.Ser556Ile)

SNV
Germline

Chr3:37040294

Pathogenic

Lynch syndrome

Reviewed By Expert Panel

CA006292

rs_63751596

1 SubmittersRCV000075299

NM_000249.4(MLH1):c.1668-1G>A

SNV
Germline/somatic

Chr3:37042267

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Condition: not provided

Reviewed By Expert Panel

CA006307

rs_267607845

10 SubmittersRCV000075300 RCV000214110 RCV000629693 RCV003451048 RCV001353428

NM_000249.4(MLH1):c.1668-1G>T

SNV
Germline

Chr3:37042267

Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA006313

rs_267607845

5 SubmittersRCV000075301 RCV001854292 RCV003451049

NM_000249.4(MLH1):c.1668-3C>A

SNV
Germline

Chr3:37042265

Likely pathogenic

Lynch syndrome
Carcinoma of colon
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA006330

rs_267607844

3 SubmittersRCV000075303 RCV000503705 RCV002399442

NM_000249.4(MLH1):c.1669G>T (p.Glu557Ter)

SNV
Germline

Chr3:37042269

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA006349

rs_63751244

4 SubmittersRCV000075308 RCV000791445 RCV002399443 RCV003455990

NM_000249.4(MLH1):c.1672G>T (p.Glu558Ter)

SNV
Germline

Chr3:37042272

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA006355

rs_63751081

2 SubmittersRCV000075309 RCV002399444

NM_000249.4(MLH1):c.1683C>G (p.Tyr561Ter)

SNV
Germline

Chr3:37042283

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA006384

rs_63751393

4 SubmittersRCV000075312 RCV001012704 RCV000703498 RCV003451050

NM_000249.4(MLH1):c.1684C>T (p.Gln562Ter)

SNV
Germline

Chr3:37042284

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer
Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA006391

rs_63751460

6 SubmittersRCV000075313 RCV001240104 RCV001192578 RCV001310198 RCV002408574 RCV003451051

NM_000249.4(MLH1):c.1693A>T (p.Ile565Phe)

SNV
Germline

Chr3:37042293

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Conflicting Classifications

CA006426

rs_63750062

8 SubmittersRCV000160538 RCV000234862 RCV000627705 RCV001354474 RCV005246618

NM_000249.4(MLH1):c.1721T>C (p.Leu574Pro)

SNV
Germline/somatic

Chr3:37042321

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA006493

rs_63751608

4 SubmittersRCV000075320 RCV002408575 RCV000698457

NM_000249.4(MLH1):c.1731+1G>A

SNV
Germline/somatic

Chr3:37042332

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch-like syndrome
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA006527

rs_267607853

9 SubmittersRCV000075322 RCV000574302 RCV001250003 RCV001579372 RCV003451053 RCV002514341

NM_000249.4(MLH1):c.1731+1G>C

SNV
Germline/somatic

Chr3:37042332

Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA006535

rs_267607853

5 SubmittersRCV000075323 RCV000693129 RCV002408576 RCV003451054

NM_000249.4(MLH1):c.1731+1G>T

SNV
Germline

Chr3:37042332

Likely pathogenic

Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA006540

rs_267607853

7 SubmittersRCV000075324 RCV000576509 RCV000685725 RCV001567027 RCV002408577

NM_000249.4(MLH1):c.1731+2T>G

SNV
Germline

Chr3:37042333

Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA006555

rs_267607856

3 SubmittersRCV000075326 RCV000797048 RCV003451055

NM_000249.4(MLH1):c.1731+3A>T

SNV
Germline

Chr3:37042334

Likely pathogenic

Lynch syndrome

Reviewed By Expert Panel

CA006561

rs_267607851

1 SubmittersRCV000075327

NM_000249.4(MLH1):c.1731+5G>A

SNV
Germline

Chr3:37042336

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Muir-Torré syndrome
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA006570

rs_267607850

6 SubmittersRCV000075328 RCV001012888 RCV001201385 RCV005357461 RCV002279946 RCV003451056

NM_000249.4(MLH1):c.1731G>A (p.Ser577=)

SNV
Germline

Chr3:37042331

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Colon cancer
Lynch syndrome 1
Hereditary nonpolyposis colon cancer
Breast and/or ovarian cancer
Colorectal cancer, hereditary nonpolyposis, type 2
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
MLH1-related disorder

Reviewed By Expert Panel

CA006585

rs_63751657

19 SubmittersRCV000075331 RCV000132025 RCV000202231 RCV000524246 RCV000662481 RCV001580146 RCV001804815 RCV001553748 RCV003492410 RCV002483122 RCV004748555

NM_000249.4(MLH1):c.1732-1G>A

SNV
Germline

Chr3:37047518

Pathogenic

Lynch syndrome
Carcinoma of colon
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA006615

rs_267607854

5 SubmittersRCV000075333 RCV001355292 RCV002408578 RCV002514342 RCV003451057

NM_000249.4(MLH1):c.1732-2A>G

SNV
Germline

Chr3:37047517

Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA006625

rs_267607852

5 SubmittersRCV002399446 RCV000075335 RCV000506870 RCV001386351 RCV003451058

NM_000249.4(MLH1):c.1732-2A>T

SNV
Germline

Chr3:37047517

Pathogenic

Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA006632

rs_267607852

2 SubmittersRCV000075336 RCV003451059

NM_000249.4(MLH1):c.1744C>G (p.Leu582Val)

SNV
Germline

Chr3:37047531

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colorectal neoplasms
not specified
Hereditary breast ovarian cancer syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA006690

rs_63751713

7 SubmittersRCV000571505 RCV004019101 RCV000627697 RCV001193957 RCV001030630 RCV003997117

NM_000249.4(MLH1):c.1745T>C (p.Leu582Pro)

SNV
Germline

Chr3:37047532

Pathogenic

Lynch syndrome

Reviewed By Expert Panel

CA006717

rs_63751616

1 SubmittersRCV000075347

NM_000249.4(MLH1):c.1766C>A (p.Ala589Asp)

SNV
Germline

Chr3:37047553

Likely pathogenic

Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA006836

rs_63750016

2 SubmittersRCV000075360 RCV003451065

NM_000249.4(MLH1):c.1790G>A (p.Trp597Ter)

SNV
Germline

Chr3:37047577

Pathogenic

Condition: not provided
Lynch syndrome
Hereditary cancer-predisposing syndrome
Carcinoma of colon
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colon cancer
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA006929

rs_63750604

9 SubmittersRCV000479277 RCV000075365 RCV000565193 RCV001354093 RCV003451068 RCV003492411 RCV003153348

NM_000249.4(MLH1):c.1810A>T (p.Lys604Ter)

SNV
Germline

Chr3:37047597

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Condition: not provided

Reviewed By Expert Panel

CA006984

rs_63750386

4 SubmittersRCV000075370 RCV002255277 RCV003451069 RCV000985779

NM_000249.4(MLH1):c.184C>T (p.Gln62Ter)

SNV
Germline

Chr3:36996686

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA007117

rs_63751428

9 SubmittersRCV000075379 RCV000254916 RCV000217644 RCV000694109 RCV003451072

NM_000249.4(MLH1):c.1852A>G (p.Lys618Glu)

SNV
Germline

Chr3:37047639

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Colorectal cancer, hereditary nonpolyposis, type 2
Breast and/or ovarian cancer
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA007156

rs_35001569

21 SubmittersRCV000114852 RCV000132423 RCV000174992 RCV000663286 RCV003149734 RCV001083570 RCV003997118

NM_000249.4(MLH1):c.1852A>T (p.Lys618Ter)

SNV
Germline

Chr3:37047639

Pathogenic

Lynch syndrome

Reviewed By Expert Panel

CA007164

rs_35001569

1 SubmittersRCV000075381

NM_000249.4(MLH1):c.1855G>C (p.Ala619Pro)

SNV
Germline

Chr3:37047642

Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA007222

rs_267607866

4 SubmittersRCV000075387 RCV000548274 RCV003451073 RCV000165622

NM_000249.4(MLH1):c.1865T>C (p.Leu622Pro)

SNV
Germline

Chr3:37047652

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA007245

rs_63750693

3 SubmittersRCV000075390 RCV001201390 RCV002408581

NM_000249.4(MLH1):c.1875T>G (p.Tyr625Ter)

SNV
Germline

Chr3:37047662

Pathogenic

Lynch syndrome

Reviewed By Expert Panel

CA007270

rs_63751415

1 SubmittersRCV000075393

NM_000249.4(MLH1):c.187G>A (p.Asp63Asn)

SNV
Germline

Chr3:36996689

Pathogenic/Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA007334

rs_63750850

6 SubmittersRCV000075399 RCV000160535 RCV000212515 RCV000694220 RCV003460707

NM_000249.4(MLH1):c.1896+1G>A

SNV
Germline

Chr3:37047684

Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA007410

rs_267607867

4 SubmittersRCV000541555 RCV000075404 RCV002408583 RCV003451077

NM_000249.4(MLH1):c.1896+1G>T

SNV
Germline

Chr3:37047684

Likely pathogenic

Lynch syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA007419

rs_267607867

7 SubmittersRCV000075405 RCV000479456 RCV000684807 RCV002288568 RCV001013523

NM_000249.4(MLH1):c.1896+2T>C

SNV
Germline

Chr3:37047685

Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA007427

rs_267607869

4 SubmittersRCV000075407 RCV001854293 RCV003235032 RCV002408584

NM_000249.4(MLH1):c.1896G>A (p.Glu632=)

SNV
Germline

Chr3:37047683

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA007444

rs_63751632

15 SubmittersRCV000075409 RCV000498248 RCV000524256 RCV001193961 RCV000605751 RCV001013527

NM_000249.4(MLH1):c.1897-2A>G

SNV
Germline

Chr3:37048515

Likely pathogenic

Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
not specified
Familial cancer of breast

Reviewed By Expert Panel

CA007469

rs_267607871

13 SubmittersRCV000075411 RCV000487325 RCV000570210 RCV000524638 RCV000763104 RCV000662785 RCV001844029 RCV005357463

NM_000249.4(MLH1):c.189C>A (p.Asp63Glu)

SNV
Germline

Chr3:36996691

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA007476

rs_587778955

2 SubmittersRCV000075413 RCV004943743

NM_000249.4(MLH1):c.1918C>T (p.Pro640Ser)

SNV
Germline

Chr3:37048538

Likely pathogenic

Carcinoma of colon
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer

Reviewed By Expert Panel

CA007602

rs_63749792

8 SubmittersRCV001354000 RCV002223786 RCV002291271 RCV000075424 RCV000569430 RCV000791363 RCV001193959

NM_000249.4(MLH1):c.1919C>T (p.Pro640Leu)

SNV
Germline

Chr3:37048539

Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA007611

rs_267607875

4 SubmittersRCV000075425 RCV000821758 RCV003451083 RCV002408588

NM_000249.4(MLH1):c.191A>G (p.Asn64Ser)

SNV
Germline

Chr3:36996693

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Condition: not provided
Lynch syndrome
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
not specified
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary breast ovarian cancer syndrome
MLH1-related disorder

Criteria Provided
Conflicting Classifications

CA007619

rs_63750952

19 SubmittersRCV000075426 RCV000217492 RCV000490571 RCV000513562 RCV000708912 RCV005025123 RCV005055564 RCV001262297 RCV002288569 RCV004760365 RCV004748556

NM_000249.4(MLH1):c.1943C>T (p.Pro648Leu)

SNV
Germline

Chr3:37048563

Likely pathogenic

Colorectal cancer, hereditary nonpolyposis, type 2
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome

Reviewed By Expert Panel

CA007716

rs_63750610

8 SubmittersRCV000477957 RCV000812087 RCV000075433 RCV000221413 RCV001269952 RCV003997119

NM_000249.4(MLH1):c.194G>A (p.Gly65Asp)

SNV
Germline

Chr3:36996696

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA007735

rs_63751465

3 SubmittersRCV000075435 RCV000564174 RCV001201396

NM_000249.4(MLH1):c.1958T>G (p.Leu653Arg)

SNV
Germline

Chr3:37048578

Likely pathogenic

Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA007760

rs_63751202

4 SubmittersRCV000075437 RCV001203288 RCV003451086 RCV002415523

NM_000249.4(MLH1):c.1961C>T (p.Pro654Leu)

SNV
Germline

Chr3:37048581

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Breast carcinoma
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
MLH1-related disorder

Reviewed By Expert Panel

CA007789

rs_63750726

10 SubmittersRCV000075439 RCV000215855 RCV001201909 RCV001554328 RCV002415524 RCV002463635 RCV004724792

NM_000249.4(MLH1):c.1975C>T (p.Arg659Ter)

SNV
Germline

Chr3:37048595

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA007865

rs_63751310

14 SubmittersRCV000075444 RCV000128869 RCV000202252 RCV000524261 RCV003226186 RCV003451087

NM_000249.4(MLH1):c.1976G>A (p.Arg659Gln)

SNV
Germline

Chr3:37048596

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Conflicting Classifications

CA007891

rs_63749900

12 SubmittersRCV000121365 RCV000656865 RCV001081501 RCV000568527 RCV005031554 RCV003997120 RCV005600642

NM_000249.4(MLH1):c.1976G>C (p.Arg659Pro)

SNV
Germline

Chr3:37048596

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
Inherited MMR deficiency (Lynch syndrome)

Reviewed By Expert Panel

CA007900

rs_63749900

6 SubmittersRCV000075447 RCV001064800 RCV002415525 RCV003237435 RCV003451088 RCV005252732

NM_000249.4(MLH1):c.1976G>T (p.Arg659Leu)

SNV
Germline

Chr3:37048596

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA007908

rs_63749900

4 SubmittersRCV000075448 RCV000572238 RCV005089506

NM_000249.4(MLH1):c.1984A>C (p.Thr662Pro)

SNV
Germline

Chr3:37048604

Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colon cancer
Lynch syndrome

Reviewed By Expert Panel

CA007926

rs_587778964

6 SubmittersRCV000524263 RCV001013906 RCV003451089 RCV005237503 RCV000075450

NM_000249.4(MLH1):c.1989+1G>A

SNV
Germline

Chr3:37048610

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA090784

rs_267607879

4 SubmittersRCV000075455 RCV000691557 RCV002415526

NM_000249.4(MLH1):c.1989+1G>C

SNV
Germline

Chr3:37048610

Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA007969

rs_267607879

5 SubmittersRCV000075456 RCV001054272 RCV004696684 RCV004943744 RCV003451090

NM_000249.4(MLH1):c.1989+1G>T

SNV
Germline

Chr3:37048610

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA007977

rs_267607879

7 SubmittersRCV000075457 RCV000679272 RCV000794468 RCV001180388

NM_000249.4(MLH1):c.1989+5G>C

SNV
Germline/somatic

Chr3:37048614

Pathogenic/Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA007990

rs_267607878

4 SubmittersRCV000075459 RCV001040247 RCV002415527 RCV003451091

NM_000249.4(MLH1):c.1989G>A (p.Glu663=)

SNV
Germline

Chr3:37048609

Pathogenic

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA008008

rs_63751662

5 SubmittersRCV000508038 RCV000075461 RCV000680174 RCV001525221

NM_000249.4(MLH1):c.1989G>T (p.Glu663Asp)

SNV
Germline

Chr3:37048609

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Carcinoma of colon

Reviewed By Expert Panel

CA008016

rs_63751662

7 SubmittersRCV000075462 RCV000256174 RCV000524264 RCV002415528 RCV001353681

NM_000249.4(MLH1):c.1990-1G>A

SNV
Germline

Chr3:37048903

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA008052

rs_267607884

5 SubmittersRCV000075467 RCV000985780 RCV001013970 RCV003593880

NM_000249.4(MLH1):c.1990-1G>T

SNV
Germline/somatic

Chr3:37048903

Likely pathogenic

Lynch syndrome
Lynch-like syndrome
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA008060

rs_267607884

3 SubmittersRCV000075468 RCV001250002 RCV001854294

NM_000249.4(MLH1):c.1990-2A>G

SNV
Germline

Chr3:37048902

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA008068

rs_267607883

5 SubmittersRCV000075469 RCV000202242 RCV000690743 RCV003466957 RCV004943745

NM_000249.4(MLH1):c.1998G>A (p.Trp666Ter)

SNV
Germline

Chr3:37048912

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided

Reviewed By Expert Panel

CA008096

rs_63750639

4 SubmittersRCV000075473 RCV002415529 RCV002514344 RCV000627203

NM_000249.4(MLH1):c.199G>A (p.Gly67Arg)

SNV
Germline/somatic

Chr3:36996701

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome 1
Carcinoma of colon
Lynch-like syndrome
Hereditary nonpolyposis colon cancer

Reviewed By Expert Panel

CA008104

rs_63750206

24 SubmittersRCV000075474 RCV000128871 RCV000202032 RCV000524266 RCV000662719 RCV001310195 RCV001353779 RCV001249945 RCV001290649

NM_000249.4(MLH1):c.1A>G (p.Met1Val)

SNV
Germline

Chr3:36993548

Pathogenic

Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Reviewed By Expert Panel

CA008127

rs_587778967

5 SubmittersRCV000075477 RCV000629832 RCV005031555 RCV002415530 RCV003477467

NM_000249.4(MLH1):c.2011G>T (p.Glu671Ter)

SNV
Germline/somatic

Chr3:37048925

Pathogenic

Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome
Lynch-like syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA008195

rs_63750663

5 SubmittersRCV003451094 RCV000075483 RCV001249947 RCV002415532 RCV005089507

NM_000249.4(MLH1):c.2027T>C (p.Leu676Pro)

SNV
Germline

Chr3:37048941

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Conflicting Classifications

CA008222

rs_63750242

5 SubmittersRCV000695668 RCV000985781 RCV000075485 RCV000216198 RCV000987189

NM_000249.4(MLH1):c.2035G>T (p.Glu679Ter)

SNV
Germline

Chr3:37048949

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Carcinoma of colon
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA008258

rs_587778971

6 SubmittersRCV000075489 RCV000529563 RCV000507295 RCV001014093 RCV001353532 RCV003451095

NM_000249.4(MLH1):c.2038T>C (p.Cys680Arg)

SNV
Germline

Chr3:37048952

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Carcinoma of colon
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA008266

rs_63750809

8 SubmittersRCV000075490 RCV000215088 RCV000791351 RCV001353998 RCV003451096

NM_000249.4(MLH1):c.2038T>G (p.Cys680Gly)

SNV
Germline

Chr3:37048952

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Conflicting Classifications

CA008274

rs_63750809

14 SubmittersRCV000684822 RCV002228179 RCV003997122 RCV000483931 RCV000579550 RCV000411388

NM_000249.4(MLH1):c.203T>A (p.Ile68Asn)

SNV
Germline

Chr3:36996705

Likely pathogenic

Lynch syndrome
Condition: not provided

Reviewed By Expert Panel

CA008282

rs_63750281

2 SubmittersRCV000075492 RCV001269638

NM_000249.4(MLH1):c.2040C>A (p.Cys680Ter)

SNV
Germline

Chr3:37048954

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA008289

rs_63749867

6 SubmittersRCV000075493 RCV000524268 RCV000573665 RCV003451097

NM_000249.4(MLH1):c.2040C>T (p.Cys680=)

SNV
Germline/somatic

Chr3:37048954

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Condition: not provided
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA008297

rs_63749867

9 SubmittersRCV000075494 RCV000567661 RCV000541158 RCV000662499 RCV001711130 RCV005357465

NM_000249.4(MLH1):c.2048T>C (p.Phe683Ser)

SNV
Germline

Chr3:37048962

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Condition: not provided
Carcinoma of colon
Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer

Reviewed By Expert Panel

CA008321

rs_587778972

7 SubmittersRCV000075497 RCV001014231 RCV003451098 RCV000589365 RCV001355274 RCV001209526 RCV005237504

NM_000249.4(MLH1):c.2059C>T (p.Arg687Trp)

SNV
Germline

Chr3:37048973

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colorectal neoplasms
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome 1
Carcinoma of colon
MLH1-related disorder

Reviewed By Expert Panel

CA008336

rs_63751275

24 SubmittersRCV000075499 RCV000215428 RCV000481137 RCV000411954 RCV000524272 RCV000763106 RCV001093679 RCV001356525 RCV003915039

NM_000249.4(MLH1):c.207+1G>A

SNV
Germline

Chr3:36996710

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA008419

rs_267607718

10 SubmittersRCV000075505 RCV000128866 RCV000202020 RCV000627707 RCV003451099

NM_000249.4(MLH1):c.207+1G>T

SNV
Germline

Chr3:36996710

Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA008427

rs_267607718

4 SubmittersRCV000075506 RCV001854295 RCV002415534 RCV003455992

NM_000249.4(MLH1):c.207+2T>C

SNV
Germline

Chr3:36996711

Likely pathogenic

Lynch syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
not specified
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA008435

rs_267607722

6 SubmittersRCV000075508 RCV000507560 RCV001210840 RCV001000153 RCV001014311 RCV003455993

NM_000249.4(MLH1):c.208-1G>A

SNV
Germline

Chr3:37000954

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA008505

rs_267607717

4 SubmittersRCV000075514 RCV000629825 RCV003451100 RCV002415535

NM_000249.4(MLH1):c.208-2A>G

SNV
Germline

Chr3:37000953

Pathogenic

Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA008517

rs_267607716

3 SubmittersRCV000075516 RCV003137610 RCV002415536

NM_000249.4(MLH1):c.208-3C>G

SNV
Germline/somatic

Chr3:37000952

Likely pathogenic

Condition: not provided
Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA008526

rs_267607720

8 SubmittersRCV000160554 RCV000075517 RCV000562969 RCV000524274 RCV000763098 RCV003451102

NM_000249.4(MLH1):c.2084C>A (p.Ser695Ter)

SNV
Germline

Chr3:37048998

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colon cancer

Reviewed By Expert Panel

CA008537

rs_63749995

6 SubmittersRCV000075523 RCV001059462 RCV003455995 RCV002415537 RCV005055565

NM_000249.4(MLH1):c.2093C>G (p.Ser698Ter)

SNV
Germline

Chr3:37049007

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA008574

rs_587778975

6 SubmittersRCV000075525 RCV000706709 RCV003451103 RCV002415539

NM_000249.4(MLH1):c.2101C>T (p.Gln701Ter)

SNV
Germline

Chr3:37049015

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Condition: not provided

Reviewed By Expert Panel

CA008607

rs_63750114

7 SubmittersRCV000075528 RCV002415540 RCV001854297 RCV003451104 RCV003480053

NM_000249.4(MLH1):c.2103+1G>A

SNV
Germline

Chr3:37049018

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA008626

rs_267607888

7 SubmittersRCV002415541 RCV000075529 RCV000202158 RCV001380413 RCV005600643

NM_000249.4(MLH1):c.2103+1G>C

SNV
Germline

Chr3:37049018

Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA008633

rs_267607888

2 SubmittersRCV000075530 RCV001380414

NM_000249.4(MLH1):c.2103+1G>T

SNV
Germline

Chr3:37049018

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA008639

rs_267607888

5 SubmittersRCV000075531 RCV000446141 RCV000483619 RCV003593881

NM_000249.4(MLH1):c.2103G>C (p.Gln701His)

SNV
Germline

Chr3:37049017

Pathogenic

Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome
Lynch syndrome 1
Hereditary nonpolyposis colon cancer
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided

Reviewed By Expert Panel

CA008661

rs_63750603

8 SubmittersRCV002288570 RCV000075534 RCV001093697 RCV001549279 RCV000694604 RCV001014446 RCV003477468

NM_000249.4(MLH1):c.2104-1G>T

SNV
Germline

Chr3:37050485

Likely pathogenic

Lynch syndrome

Reviewed By Expert Panel

CA008680

rs_587778978

1 SubmittersRCV000075537

NM_000249.4(MLH1):c.2104-2A>G

SNV
Germline

Chr3:37050484

Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA008707

rs_267607889

3 SubmittersRCV000075539 RCV001314807 RCV003451105

NM_000249.4(MLH1):c.2104-2A>T

SNV
Germline

Chr3:37050484

Pathogenic

Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA008714

rs_267607889

3 SubmittersRCV000075540 RCV003451106 RCV002415543

NM_000249.4(MLH1):c.211G>T (p.Glu71Ter)

SNV
Germline

Chr3:37000958

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA008784

rs_63749829

2 SubmittersRCV000075548 RCV002415545

NM_000249.4(MLH1):c.2135G>A (p.Trp712Ter)

SNV
Germline

Chr3:37050517

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Colorectal cancer, hereditary nonpolyposis, type 2
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA008833

rs_63750561

12 SubmittersRCV000202047 RCV000581002 RCV000075550 RCV000686456 RCV001310200 RCV005394315 RCV003451108

NM_000249.4(MLH1):c.2136G>A (p.Trp712Ter)

SNV
Germline/somatic

Chr3:37050518

Pathogenic

Lynch syndrome
Lynch-like syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA008842

rs_63750499

5 SubmittersRCV000075551 RCV001249996 RCV002415546 RCV004700376 RCV003451109

NM_000249.4(MLH1):c.2141G>A (p.Trp714Ter)

SNV
Germline

Chr3:37050523

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1
Colorectal cancer, hereditary nonpolyposis, type 2
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA008850

rs_63751022

10 SubmittersRCV000075553 RCV000165669 RCV001044497 RCV002280100 RCV000144606 RCV005357468 RCV003451110

NM_000249.4(MLH1):c.2153A>C (p.His718Pro)

SNV
Germline

Chr3:37050535

Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Muir-Torré syndrome

Reviewed By Expert Panel

CA008900

rs_587778983

3 SubmittersRCV000075557 RCV000694232 RCV002247469

NM_000249.4(MLH1):c.2159T>G (p.Val720Gly)

SNV
Germline

Chr3:37050541

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA008948

rs_587778985

7 SubmittersRCV000162502 RCV002288571 RCV000627729 RCV003997124

NM_000249.4(MLH1):c.2162A>G (p.Tyr721Cys)

SNV
Germline

Chr3:37050544

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colorectal neoplasms
not specified
Colorectal cancer, hereditary nonpolyposis, type 2
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
MLH1-related disorder
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA008958

rs_587778986

13 SubmittersRCV000160544 RCV000212548 RCV000409675 RCV000524278 RCV000781540 RCV002483123 RCV003390768 RCV003997125

NM_000249.4(MLH1):c.2163T>A (p.Tyr721Ter)

SNV
Germline

Chr3:37050545

Pathogenic

Lynch syndrome

Reviewed By Expert Panel

CA008969

rs_63750484

1 SubmittersRCV000075565

NM_000249.4(MLH1):c.2173C>T (p.Arg725Cys)

SNV
Germline

Chr3:37050555

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Conflicting Classifications

CA009001

rs_138584384

9 SubmittersRCV000627721 RCV000485816 RCV001014672 RCV000767193 RCV003997126 RCV004566928

NM_000249.4(MLH1):c.2174G>A (p.Arg725His)

SNV
Germline

Chr3:37050556

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA009007

rs_566928243

17 SubmittersRCV000075568 RCV000115473 RCV000212549 RCV000586779 RCV000764498 RCV001147135 RCV001079417

NM_000249.4(MLH1):c.2194A>T (p.Lys732Ter)

SNV
Germline

Chr3:37050576

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA009077

rs_267607906

6 SubmittersRCV000075573 RCV000558933 RCV000564805 RCV001353662 RCV003451115

NM_000249.4(MLH1):c.2210A>T (p.Asp737Val)

SNV
Germline

Chr3:37050592

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
MLH1-related disorder
Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Conflicting Classifications

CA009102

rs_267607885

8 SubmittersRCV000115474 RCV000791373 RCV000563079 RCV003894921 RCV003997127 RCV004566929

NM_000249.4(MLH1):c.2224C>T (p.Gln742Ter)

SNV
Germline

Chr3:37050606

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA009163

rs_587778992

5 SubmittersRCV000075580 RCV001040530 RCV000574085 RCV003451117

NM_000249.4(MLH1):c.2246T>C (p.Leu749Pro)

SNV
Germline

Chr3:37050628

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
MLH1-related disorder
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Carcinoma of colon

Reviewed By Expert Panel

CA009197

rs_267607894

12 SubmittersRCV000216146 RCV000478074 RCV001823108 RCV004724793 RCV000075583 RCV000627694 RCV001355258

NM_000249.4(MLH1):c.229T>C (p.Cys77Arg)

SNV
Germline

Chr3:37000976

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colon cancer
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA009324

rs_63749859

5 SubmittersRCV000075596 RCV000220766 RCV001192575 RCV001358424 RCV001854300

NM_000249.4(MLH1):c.230G>A (p.Cys77Tyr)

SNV
Germline

Chr3:37000977

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided

Reviewed By Expert Panel

CA009334

rs_63750437

12 SubmittersRCV000075598 RCV000562335 RCV001262551 RCV000791362 RCV003477469

NM_000249.4(MLH1):c.238T>G (p.Phe80Val)

SNV
Germline

Chr3:37000985

Likely pathogenic

Lynch syndrome 1
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA009371

rs_63749990

4 SubmittersRCV000075601 RCV001091798 RCV001379075 RCV004019103

NM_000249.4(MLH1):c.244A>G (p.Thr82Ala)

SNV
Germline

Chr3:37000991

Likely pathogenic

Lynch syndrome 1
Lynch syndrome
Hereditary cancer-predisposing syndrome
not specified
Hereditary nonpolyposis colorectal neoplasms
Carcinoma of colon
Colorectal cancer, hereditary nonpolyposis, type 2
Condition: not provided
Hereditary nonpolyposis colon cancer

Reviewed By Expert Panel

CA009402

rs_587778998

14 SubmittersRCV000490565 RCV000075602 RCV000166056 RCV000506252 RCV000542720 RCV001353582 RCV002467439 RCV004595910 RCV004782045

NM_000249.4(MLH1):c.245C>T (p.Thr82Ile)

SNV
Germline

Chr3:37000992

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colon cancer
Condition: not provided

Reviewed By Expert Panel

CA009423

rs_63750005

8 SubmittersRCV000222555 RCV000075604 RCV000630024 RCV000659867 RCV001778703 RCV003477470

NM_000249.4(MLH1):c.250A>G (p.Lys84Glu)

SNV
Germline

Chr3:37000997

Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Carcinoma of colon
Colorectal cancer, hereditary nonpolyposis, type 2
Condition: not provided

Reviewed By Expert Panel

CA009442

rs_63750641

8 SubmittersRCV002433575 RCV000075606 RCV001201354 RCV001353981 RCV003451121 RCV001269582

NM_000249.4(MLH1):c.256C>T (p.Gln86Ter)

SNV
Germline

Chr3:37001003

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA009451

rs_63751421

7 SubmittersRCV000075607 RCV002453384 RCV002513802 RCV001529525 RCV003451122

NM_000249.4(MLH1):c.265G>T (p.Glu89Ter)

SNV
Germline

Chr3:37001012

Pathogenic

Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA009474

rs_11541859

2 SubmittersRCV000075610 RCV003451123

NM_000249.4(MLH1):c.283T>G (p.Ser95Ala)

SNV
Germline

Chr3:37001030

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary breast ovarian cancer syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA009506

rs_63751070

11 SubmittersRCV000115478 RCV000215988 RCV000409260 RCV001030562 RCV000555517 RCV004806051

NM_000249.4(MLH1):c.299G>C (p.Arg100Pro)

SNV
Germline

Chr3:37001046

Pathogenic

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome 1
Hereditary nonpolyposis colon cancer

Reviewed By Expert Panel

CA009587

rs_63750266

6 SubmittersRCV001532480 RCV001854301 RCV002291272 RCV000075619 RCV002281909

NM_000249.4(MLH1):c.2T>A (p.Met1Lys)

SNV
Germline

Chr3:36993549

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA009594

rs_111052004

2 SubmittersRCV000075620 RCV003362685

NM_000249.4(MLH1):c.2T>C (p.Met1Thr)

SNV
Germline

Chr3:36993549

Pathogenic

Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA009600

rs_111052004

5 SubmittersRCV000075621 RCV003593883 RCV001800370 RCV002288572 RCV002433577

NM_000249.4(MLH1):c.2T>G (p.Met1Arg)

SNV
Germline

Chr3:36993549

Pathogenic

Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA009606

rs_111052004

2 SubmittersRCV000075622 RCV002433578

NM_000249.4(MLH1):c.301G>A (p.Gly101Ser)

SNV
Germline

Chr3:37001048

Likely pathogenic

Lynch syndrome
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA009611

rs_267607726

6 SubmittersRCV000075623 RCV000502831 RCV003162483 RCV000486320 RCV001211883 RCV003451125

NM_000249.4(MLH1):c.302G>A (p.Gly101Asp)

SNV
Germline

Chr3:37001049

Likely pathogenic

Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA009617

rs_267607727

4 SubmittersRCV000075624 RCV000568721 RCV000481030 RCV003451126

NM_000249.4(MLH1):c.304G>A (p.Glu102Lys)

SNV
Germline

Chr3:37001051

Likely pathogenic

Lynch syndrome 1
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colon cancer
Hereditary nonpolyposis colorectal neoplasms
Carcinoma of colon
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA009641

rs_63750453

11 SubmittersRCV000075627 RCV000501856 RCV000216042 RCV000493419 RCV000781538 RCV000807476 RCV001353830 RCV003451127

NM_000249.4(MLH1):c.306+1G>A

SNV
Germline

Chr3:37001054

Pathogenic

Lynch syndrome 1
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Gastric cancer
Condition: not provided

Reviewed By Expert Panel

CA009647

rs_267607734

6 SubmittersRCV000075628 RCV003451128 RCV000544543 RCV002444531 RCV003162484 RCV003237436

NM_000249.4(MLH1):c.306+5G>A

SNV
Germline

Chr3:37001058

Pathogenic

Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Lynch syndrome 1

Reviewed By Expert Panel

CA009684

rs_267607735

10 SubmittersRCV000202186 RCV000022504 RCV000075634 RCV001018363 RCV001045822 RCV000763099 RCV001804820

NM_000249.4(MLH1):c.306G>C (p.Glu102Asp)

SNV
Germline

Chr3:37001053

Pathogenic

Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA009696

rs_63751665

5 SubmittersRCV003451130 RCV000075636 RCV001048439 RCV002444532

NM_000249.4(MLH1):c.307-1G>C

SNV
Germline

Chr3:37004400

Likely pathogenic

Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA009732

rs_267607736

4 SubmittersRCV000075641 RCV000478493 RCV002319436 RCV003451131

NM_000249.4(MLH1):c.307-2A>C

SNV
Germline

Chr3:37004399

Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA009742

rs_267607732

3 SubmittersRCV000075644 RCV002514345 RCV003451132

NM_000249.4(MLH1):c.320T>G (p.Ile107Arg)

SNV
Germline

Chr3:37004414

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA009787

rs_63750507

3 SubmittersRCV000075654 RCV000160517 RCV001019260

NM_000249.4(MLH1):c.332C>T (p.Ala111Val)

SNV
Germline

Chr3:37004426

Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Carcinoma of colon
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA009815

rs_63750539

6 SubmittersRCV000075658 RCV000627728 RCV001353512 RCV002321564 RCV003451134

NM_000249.4(MLH1):c.347C>A (p.Thr116Lys)

SNV
Germline

Chr3:37004441

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colorectal neoplasms
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA009850

rs_63750465

10 SubmittersRCV000115481 RCV000235173 RCV000410226 RCV000524292 RCV000764481 RCV000780414 RCV003997128

NM_000249.4(MLH1):c.350C>G (p.Thr117Arg)

SNV
Germline

Chr3:37004444

Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Reviewed By Expert Panel

CA009864

rs_63750781

8 SubmittersRCV000075665 RCV000202256 RCV000569088 RCV000622257

NM_000249.4(MLH1):c.367A>T (p.Lys123Ter)

SNV
Germline

Chr3:37004461

Pathogenic

Lynch syndrome
Condition: not provided

Reviewed By Expert Panel

CA009925

rs_63750542

2 SubmittersRCV000075669 RCV002267837

NM_000249.4(MLH1):c.376T>A (p.Tyr126Asn)

SNV
Germline

Chr3:37004470

Conflicting classifications of pathogenicity

Breast and/or ovarian cancer
Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA009965

rs_200076893

11 SubmittersRCV003149739 RCV003997129 RCV000217922 RCV000571582 RCV000410157 RCV000524295

NM_000249.4(MLH1):c.378C>G (p.Tyr126Ter)

SNV
Germline

Chr3:37004472

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA009980

rs_63751606

3 SubmittersRCV000075674 RCV001230876 RCV002345379

NM_000249.4(MLH1):c.37G>T (p.Glu13Ter)

SNV
Germline

Chr3:36993584

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA010022

rs_587779008

4 SubmittersRCV000162469 RCV000075677 RCV000696247 RCV003451138

NM_000249.4(MLH1):c.380+1G>A

SNV
Germline/somatic

Chr3:37004475

Likely pathogenic

Condition: not provided
Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colorectal neoplasms
Lynch-like syndrome
Carcinoma of colon
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA010040

rs_267607745

8 SubmittersRCV000486012 RCV000075679 RCV003451139 RCV000524296 RCV001249909 RCV001353869 RCV001021188

NM_000249.4(MLH1):c.380+2T>A

SNV
Germline

Chr3:37004476

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA010049

rs_267607742

5 SubmittersRCV000075680 RCV001215653 RCV002354258 RCV003451140

NM_000249.4(MLH1):c.380+2T>C

SNV
Germline

Chr3:37004476

Likely pathogenic

Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA010057

rs_267607742

6 SubmittersRCV000075681 RCV001356725 RCV002354259 RCV003451141

NM_000249.4(MLH1):c.380G>A (p.Arg127Lys)

SNV
Germline

Chr3:37004474

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA010066

rs_63751595

4 SubmittersRCV000075682 RCV000221216 RCV000686990 RCV003451142

NM_000249.4(MLH1):c.381-2A>G

SNV
Germline

Chr3:37006989

Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA010087

rs_267607743

3 SubmittersRCV000075683 RCV001235385 RCV003451143

NM_000249.4(MLH1):c.382G>C (p.Ala128Pro)

SNV
Germline

Chr3:37006992

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA010150

rs_63750866

2 SubmittersRCV000075687 RCV005089510

NM_000249.4(MLH1):c.392C>A (p.Ser131Ter)

SNV
Germline

Chr3:37007002

Pathogenic

Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA010223

rs_63749818

3 SubmittersRCV000075696 RCV003388572

NM_000249.4(MLH1):c.397G>T (p.Gly133Ter)

SNV
Germline

Chr3:37007007

Pathogenic

Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA010246

rs_63751124

3 SubmittersRCV000075698 RCV003451146 RCV003162485

NM_000249.4(MLH1):c.3G>A (p.Met1Ile)

SNV
Germline

Chr3:36993550

Pathogenic

Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary nonpolyposis colon cancer

Reviewed By Expert Panel

CA010267

rs_72481822

6 SubmittersRCV000075700 RCV000215403 RCV000554881 RCV001354275 RCV001293607

NM_000249.4(MLH1):c.436C>T (p.Gln146Ter)

SNV
Germline

Chr3:37007046

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA010388

rs_63749820

4 SubmittersRCV000075706 RCV000551153 RCV002326788 RCV004019104

NM_000249.4(MLH1):c.445C>T (p.Gln149Ter)

SNV
Germline

Chr3:37007055

Pathogenic

Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA010427

rs_63751302

3 SubmittersRCV000075708 RCV003451148 RCV003162486

NM_000249.4(MLH1):c.453+1G>T

SNV
Germline

Chr3:37007064

Likely pathogenic

Lynch syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA010483

rs_267607750

8 SubmittersRCV000075712 RCV000160522 RCV000704046 RCV000576794 RCV001022649

NM_000249.4(MLH1):c.453+2T>C

SNV
Germline

Chr3:37007065

Pathogenic

Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA010498

rs_267607751

2 SubmittersRCV000075713 RCV003451149

NM_000249.4(MLH1):c.454-13A>G

SNV
Germline

Chr3:37008801

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Carcinoma of colon
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA010560

rs_267607749

12 SubmittersRCV000075719 RCV000565961 RCV000480337 RCV000524301 RCV001356457 RCV003452739

NM_000249.4(MLH1):c.454-1G>T

SNV
Germline

Chr3:37008813

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA010579

rs_193922370

2 SubmittersRCV000075720 RCV002336223

NM_000249.4(MLH1):c.454-2A>G

SNV
Germline

Chr3:37008812

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA010586

rs_267607753

3 SubmittersRCV000075721 RCV000218165 RCV001854302

NM_000249.4(MLH1):c.464T>G (p.Leu155Arg)

SNV
Germline

Chr3:37008824

Pathogenic

Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA010624

rs_63750891

4 SubmittersRCV000075730 RCV003452740 RCV005089511 RCV004629149

NM_000249.4(MLH1):c.479C>T (p.Ala160Val)

SNV
Germline

Chr3:37008839

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome
MLH1-related disorder
Colorectal cancer, hereditary nonpolyposis, type 2
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA010656

rs_63749924

10 SubmittersRCV000130760 RCV000524302 RCV000522486 RCV005420541 RCV003997131 RCV004748558 RCV005357473

NM_000249.4(MLH1):c.497T>A (p.Leu166Ter)

SNV
Germline

Chr3:37008857

Pathogenic

Lynch syndrome

Reviewed By Expert Panel

CA010700

rs_267607755

1 SubmittersRCV000075735

NM_000249.4(MLH1):c.539T>G (p.Val180Gly)

SNV
Germline

Chr3:37008899

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colorectal neoplasms
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA010855

rs_63750102

13 SubmittersRCV000131749 RCV000212519 RCV000411648 RCV000524305 RCV005031556 RCV003320556 RCV003997133

NM_000249.4(MLH1):c.544A>G (p.Arg182Gly)

SNV
Germline

Chr3:37008904

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA010872

rs_63750211

5 SubmittersRCV000075747 RCV000570187 RCV001353413 RCV000684818

NM_000249.4(MLH1):c.545+1G>A

SNV
Germline

Chr3:37008906

Likely pathogenic

Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA010895

rs_267607765

4 SubmittersRCV000075748 RCV003452744 RCV002345381 RCV003153351

NM_000249.4(MLH1):c.545+3A>G

SNV
Germline/somatic

Chr3:37008908

Pathogenic

Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary cancer-predisposing syndrome
Lynch-like syndrome
Lynch syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary nonpolyposis colon cancer
Muir-Torré syndrome

Reviewed By Expert Panel

CA010914

rs_267607760

16 SubmittersRCV000609647 RCV000564669 RCV001249949 RCV000075749 RCV000215515 RCV001202202 RCV001804822 RCV005406805 RCV005357474

NM_000249.4(MLH1):c.545G>A (p.Arg182Lys)

SNV
Germline

Chr3:37008905

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA010950

rs_587779021

4 SubmittersRCV001854303 RCV004943748 RCV000075753 RCV003452745

NM_000249.4(MLH1):c.546-1G>A

SNV
Germline

Chr3:37011819

Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colon cancer
Colorectal cancer, hereditary nonpolyposis, type 2
Muir-Torré syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA010963

rs_587779022

7 SubmittersRCV000075754 RCV002271399 RCV005357475 RCV000482173 RCV001854304 RCV003162487 RCV003452746

NM_000249.4(MLH1):c.546-2A>C

SNV
Germline

Chr3:37011818

Pathogenic

Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA010971

rs_267607759

2 SubmittersRCV000075755 RCV003452747

NM_000249.4(MLH1):c.546-2A>G

SNV
Germline

Chr3:37011818

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA010978

rs_267607759

9 SubmittersRCV000075756 RCV000202027 RCV000629970 RCV001024144 RCV003452748

NM_000249.4(MLH1):c.554T>G (p.Val185Gly)

SNV
Germline

Chr3:37011828

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA011003

rs_63750515

5 SubmittersRCV000075761 RCV000218149 RCV001385098 RCV002345382 RCV003452749

NM_000249.4(MLH1):c.55A>T (p.Ile19Phe)

SNV
Germline

Chr3:36993602

Pathogenic

Carcinoma of colon
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer

Reviewed By Expert Panel

CA011026

rs_63750648

6 SubmittersRCV000075763 RCV000162610 RCV000483320 RCV000680175 RCV000791372 RCV005417453

NM_000249.4(MLH1):c.578C>G (p.Ser193Ter)

SNV
Germline

Chr3:37011852

Pathogenic

Condition: not provided
Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA011062

rs_63751480

5 SubmittersRCV003321498 RCV000075767 RCV003452750 RCV002354263 RCV001854305

NM_000249.4(MLH1):c.586A>T (p.Lys196Ter)

SNV
Germline

Chr3:37011860

Pathogenic

Lynch syndrome

Reviewed By Expert Panel

CA011080

rs_63750500

1 SubmittersRCV000075768

NM_000249.4(MLH1):c.588+1G>T

SNV
Germline

Chr3:37011863

Pathogenic

Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA011106

rs_267607772

5 SubmittersRCV003452751 RCV000075769 RCV001176887 RCV001854306

NM_000249.4(MLH1):c.588+2T>A

SNV
Germline

Chr3:37011864

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA011113

rs_587779024

5 SubmittersRCV000075771 RCV001024637 RCV000550590 RCV003452752

NM_000249.4(MLH1):c.588+5G>A

SNV
Germline

Chr3:37011867

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Condition: not provided
Hereditary nonpolyposis colon cancer
Colorectal cancer, hereditary nonpolyposis, type 2
Mismatch repair cancer syndrome 1
Muir-Torré syndrome

Reviewed By Expert Panel

CA011130

rs_267607768

10 SubmittersRCV000075774 RCV000572458 RCV000627715 RCV003452753 RCV000213543 RCV001255542 RCV000763100

NM_000249.4(MLH1):c.588+5G>C

SNV
Germline

Chr3:37011867

Conflicting classifications of pathogenicity

Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA011137

rs_267607768

5 SubmittersRCV000075775 RCV000987153 RCV001045347 RCV002354265

NM_000249.4(MLH1):c.589-1G>T

SNV
Germline

Chr3:37012010

Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary cancer-predisposing syndrome
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA011182

rs_587779027

6 SubmittersRCV000075779 RCV001070764 RCV003452754 RCV002258789 RCV002483124

NM_000249.4(MLH1):c.589-2A>G

SNV
Germline

Chr3:37012009

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Reviewed By Expert Panel

CA011189

rs_267607767

13 SubmittersRCV000075780 RCV000160526 RCV000212522 RCV000576331 RCV000524306 RCV001804823

NM_000249.4(MLH1):c.5C>A (p.Ser2Ter)

SNV
Germline

Chr3:36993552

Pathogenic

Lynch syndrome
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA011228

rs_587779029

4 SubmittersRCV000075784 RCV004998189 RCV003456001 RCV004943749

NM_000249.4(MLH1):c.62C>A (p.Ala21Glu)

SNV
Germline

Chr3:36993609

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA011283

rs_63750706

2 SubmittersRCV000075786 RCV000811318

NM_000249.4(MLH1):c.62C>T (p.Ala21Val)

SNV
Germline

Chr3:36993609

Pathogenic

Lynch syndrome 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Gastric cancer

Reviewed By Expert Panel

CA011295

rs_63750706

8 SubmittersRCV000075787 RCV001269890 RCV002362709 RCV003452755 RCV003162488

NM_000249.4(MLH1):c.644A>G (p.Asn215Ser)

SNV
Germline

Chr3:37012066

Conflicting classifications of pathogenicity

not specified
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colon cancer
Condition: not provided

Criteria Provided
Conflicting Classifications

CA011342

rs_267607775

8 SubmittersRCV000508449 RCV000627731 RCV000771523 RCV003997136 RCV004566931 RCV003993790 RCV004721260

NM_000249.4(MLH1):c.649C>T (p.Arg217Cys)

SNV
Germline

Chr3:37012071

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary breast ovarian cancer syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Carcinoma of colon
MLH1-related disorder

Criteria Provided
Conflicting Classifications

CA011361

rs_4986984

16 SubmittersRCV000115483 RCV000212524 RCV000590255 RCV000987154 RCV001030563 RCV001079587 RCV001093666 RCV001354844 RCV003944989

NM_000249.4(MLH1):c.677+1G>A

SNV
Germline

Chr3:37012100

Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA011519

rs_267607778

6 SubmittersRCV000075802 RCV000533036 RCV000663323 RCV001183308

NM_000249.4(MLH1):c.677+1G>T

SNV
Germline

Chr3:37012100

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA011528

rs_267607778

8 SubmittersRCV000075803 RCV000480845 RCV001034678 RCV001193208 RCV003452758 RCV002362711

NM_000249.4(MLH1):c.677+3A>G

SNV
Germline

Chr3:37012102

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Carcinoma of colon
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA011545

rs_267607780

11 SubmittersRCV000075806 RCV000201996 RCV000222833 RCV000812851 RCV001353985 RCV003466960

NM_000249.4(MLH1):c.677G>A (p.Arg226Gln)

SNV
Germline/somatic

Chr3:37012099

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Lynch-like syndrome
Gastric cancer
Endometrial carcinoma
Hereditary nonpolyposis colon cancer

Reviewed By Expert Panel

CA011583

rs_63751711

23 SubmittersRCV000075809 RCV000132197 RCV000202049 RCV000410542 RCV000524312 RCV001093688 RCV001250009 RCV003162489 RCV003128139 RCV005406806

NM_000249.4(MLH1):c.677G>T (p.Arg226Leu)

SNV
Germline/somatic

Chr3:37012099

Likely pathogenic

Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch-like syndrome

Reviewed By Expert Panel

CA011592

rs_63751711

15 SubmittersRCV000075810 RCV000160555 RCV000708610 RCV000524313 RCV000709741 RCV001249952

NM_000249.4(MLH1):c.678-1G>C

SNV
Germline

Chr3:37014431

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA011606

rs_267607784

4 SubmittersRCV000075813 RCV003593888 RCV003452760 RCV002362712

NM_000249.4(MLH1):c.678-1G>T

SNV
Germline

Chr3:37014431

Likely pathogenic

Lynch syndrome

Reviewed By Expert Panel

CA011615

rs_267607784

1 SubmittersRCV000075814

NM_000249.4(MLH1):c.678-2A>G

SNV
Germline

Chr3:37014430

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA011623

rs_587779035

5 SubmittersRCV000075815 RCV000569823 RCV001380125 RCV003452761

NM_000249.4(MLH1):c.67G>T (p.Glu23Ter)

SNV
Germline

Chr3:36993614

Pathogenic

Condition: not provided
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colon cancer
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA011669

rs_63750823

10 SubmittersRCV000160551 RCV000075822 RCV000811317 RCV000772326 RCV001290676 RCV001258081

NM_000249.4(MLH1):c.69A>T (p.Glu23Asp)

SNV
Germline

Chr3:36993616

Conflicting classifications of pathogenicity

Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA011736

rs_63750555

5 SubmittersRCV000411283 RCV001025892 RCV001236964 RCV003997137

NM_000249.4(MLH1):c.731G>A (p.Gly244Asp)

SNV
Germline

Chr3:37014485

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA011836

rs_63750303

8 SubmittersRCV000075830 RCV000573119 RCV001210008 RCV001354491 RCV001804824 RCV003466961

NM_000249.4(MLH1):c.731G>T (p.Gly244Val)

SNV
Germline/somatic

Chr3:37014485

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA011845

rs_63750303

5 SubmittersRCV000075831 RCV000536939 RCV003452764 RCV002381380

NM_000249.4(MLH1):c.739T>C (p.Ser247Pro)

SNV
Germline

Chr3:37014493

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA011855

rs_63750948

4 SubmittersRCV000075833 RCV000629770 RCV001183309

NM_000249.4(MLH1):c.73A>T (p.Ile25Phe)

SNV
Germline

Chr3:36993620

Likely pathogenic

Lynch syndrome

Reviewed By Expert Panel

CA011880

rs_63749838

1 SubmittersRCV000075834

NM_000249.4(MLH1):c.76C>T (p.Gln26Ter)

SNV
Germline

Chr3:36993623

Pathogenic

Lynch syndrome
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA011979

rs_63749827

10 SubmittersRCV000075838 RCV000520796 RCV001258082 RCV001854309 RCV002399450

NM_000249.4(MLH1):c.778C>T (p.Leu260Phe)

SNV
Germline

Chr3:37014532

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary breast ovarian cancer syndrome
Lynch syndrome
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA012012

rs_63750642

9 SubmittersRCV000130511 RCV000479043 RCV000705556 RCV004566932 RCV004786356 RCV004806052 RCV005364964

NM_000249.4(MLH1):c.779T>G (p.Leu260Arg)

SNV
Germline

Chr3:37014533

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA012020

rs_63751283

3 SubmittersRCV000075841 RCV001183310

NM_000249.4(MLH1):c.790+1G>A

SNV
Germline/somatic

Chr3:37014545

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch-like syndrome
Lynch syndrome 1
Colonic neoplasm
Colorectal cancer, hereditary nonpolyposis, type 2
Endometrial carcinoma

Reviewed By Expert Panel

CA012109

rs_267607789

18 SubmittersRCV000075847 RCV000562275 RCV000214767 RCV000524316 RCV001249934 RCV001310196 RCV001646997 RCV003452766 RCV003128140

NM_000249.4(MLH1):c.790+1G>C

SNV
Germline

Chr3:37014545

Likely pathogenic

Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA012117

rs_267607789

2 SubmittersRCV000075848 RCV003452767

NM_000249.4(MLH1):c.790+2T>A

SNV
Germline

Chr3:37014546

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA012153

rs_267607790

5 SubmittersRCV001026933 RCV001382874 RCV000075850 RCV002291498

NM_000249.4(MLH1):c.790+2T>C

SNV
Germline

Chr3:37014546

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Carcinoma of colon
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA012162

rs_267607790

6 SubmittersRCV000075851 RCV000812444 RCV001353965 RCV002415547 RCV003452768

NM_000249.4(MLH1):c.790+3A>T

SNV
Germline/somatic

Chr3:37014547

Pathogenic/Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA012172

rs_267607792

2 SubmittersRCV000075853 RCV002415548

NM_000249.4(MLH1):c.790+5G>T

SNV
Germline

Chr3:37014549

Pathogenic

Lynch syndrome 1
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA012201

rs_267607771

2 SubmittersRCV000075855 RCV003452770

NM_000249.4(MLH1):c.790C>T (p.His264Tyr)

SNV
Germline

Chr3:37014544

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Lynch syndrome 1
Hereditary breast ovarian cancer syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome
MLH1-related disorder

Criteria Provided
Conflicting Classifications

CA012242

rs_63751597

11 SubmittersRCV000530665 RCV000562121 RCV000478542 RCV001193965 RCV001093687 RCV003483463 RCV003485534 RCV003997138 RCV004748559

NM_000249.4(MLH1):c.791-1G>C

SNV
Germline

Chr3:37017505

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
Muir-Torré syndrome

Reviewed By Expert Panel

CA012277

rs_267607795

7 SubmittersRCV000075860 RCV001183311 RCV001388082 RCV001723644 RCV003452771 RCV002247470

NM_000249.4(MLH1):c.791-1G>T

SNV
Germline

Chr3:37017505

Likely pathogenic

Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA012290

rs_267607795

2 SubmittersRCV000075861 RCV003452772

NM_000249.4(MLH1):c.791-2A>G

SNV
Germline

Chr3:37017504

Likely pathogenic

Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA012308

rs_267607794

9 SubmittersRCV003452773 RCV000115486 RCV000212525 RCV000075863 RCV000543128

NM_000249.4(MLH1):c.791-5T>G

SNV
Germline

Chr3:37017501

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Condition: not provided

Reviewed By Expert Panel

CA012320

rs_267607788

7 SubmittersRCV000075865 RCV000579445 RCV001379645 RCV001262553 RCV002512058

NM_000249.4(MLH1):c.791-7T>A

SNV
Germline

Chr3:37017499

Likely pathogenic

Lynch syndrome

Reviewed By Expert Panel

CA012354

rs_587779042

1 SubmittersRCV000075866

NM_000249.4(MLH1):c.793C>A (p.Arg265Ser)

SNV
Germline/somatic

Chr3:37017508

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Carcinoma of colon
Lynch-like syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colon cancer

Reviewed By Expert Panel

CA012384

rs_63751194

10 SubmittersRCV000075871 RCV000202126 RCV000567864 RCV001070683 RCV001353449 RCV001249943 RCV003452775 RCV005237505

NM_000249.4(MLH1):c.83C>T (p.Pro28Leu)

SNV
Germline

Chr3:36993630

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
MLH1-related disorder

Reviewed By Expert Panel

CA012549

rs_63750792

8 SubmittersRCV000075881 RCV000160552 RCV001380943 RCV001800371 RCV004748561

NM_000249.4(MLH1):c.840T>A (p.Tyr280Ter)

SNV
Germline

Chr3:37017555

Pathogenic

Lynch syndrome

Reviewed By Expert Panel

CA012563

rs_63750938

1 SubmittersRCV000075882

NM_000249.4(MLH1):c.842C>T (p.Ala281Val)

SNV
Germline

Chr3:37017557

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA012571

rs_63749950

3 SubmittersRCV000075883 RCV002444533 RCV001854310

NM_000249.4(MLH1):c.851T>A (p.Leu284Ter)

SNV
Germline

Chr3:37017566

Pathogenic

Lynch syndrome

Reviewed By Expert Panel

CA012616

rs_63750889

1 SubmittersRCV000075886

NM_000249.4(MLH1):c.86C>G (p.Ala29Gly)

SNV
Germline

Chr3:36993633

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA012745

rs_63750216

5 SubmittersRCV000075896 RCV000218998 RCV001284650 RCV003452780 RCV003593891

NM_000249.4(MLH1):c.875T>C (p.Leu292Pro)

SNV
Germline

Chr3:37017590

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA012754

rs_63750517

4 SubmittersRCV000630228 RCV002371909 RCV003235034 RCV005625266

NM_000249.4(MLH1):c.882C>G (p.Leu294=)

SNV
Germline

Chr3:37017597

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA012774

rs_63751707

4 SubmittersRCV000776334 RCV001854311 RCV004806053

NM_000249.4(MLH1):c.882C>T (p.Leu294=)

SNV
Germline

Chr3:37017597

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA012784

rs_63751707

7 SubmittersRCV000075900 RCV000574927 RCV000759814 RCV000818945 RCV004562243 RCV003452781

NM_000249.4(MLH1):c.883A>C (p.Ser295Arg)

SNV
Germline

Chr3:37017598

Pathogenic

Lynch syndrome
Carcinoma of colon
Hereditary nonpolyposis colorectal neoplasms
Inherited MMR deficiency (Lynch syndrome)
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA012793

rs_63751598

6 SubmittersRCV000075901 RCV001353502 RCV001046252 RCV005055065 RCV002371910

NM_000249.4(MLH1):c.883A>G (p.Ser295Gly)

SNV
Germline

Chr3:37017598

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Carcinoma of colon
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA012803

rs_63751598

6 SubmittersRCV000075902 RCV000561374 RCV001353633 RCV003452782 RCV003593892

NM_000249.4(MLH1):c.884+2T>C

SNV
Germline

Chr3:37017601

Likely pathogenic

Lynch syndrome

Reviewed By Expert Panel

CA012829

rs_267607806

1 SubmittersRCV000075904

NM_000249.4(MLH1):c.884+4A>G

SNV
Germline

Chr3:37017603

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA012852

rs_267607777

8 SubmittersRCV000075907 RCV000630077 RCV001018387 RCV001582561 RCV003452783

NM_000249.4(MLH1):c.884G>A (p.Ser295Asn)

SNV
Germline

Chr3:37017599

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA012866

rs_63750144

5 SubmittersRCV000075908 RCV000215143 RCV001220885 RCV003452784

NM_000249.4(MLH1):c.885-2A>G

SNV
Germline

Chr3:37020308

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Colorectal cancer, hereditary nonpolyposis, type 2
Muir-Torré syndrome

Reviewed By Expert Panel

CA012922

rs_267607805

10 SubmittersRCV000075914 RCV000132040 RCV000481722 RCV000627716 RCV003452786 RCV005357478

NM_000249.4(MLH1):c.887T>G (p.Leu296Ter)

SNV
Germline

Chr3:37020312

Pathogenic

Lynch syndrome
Condition: not provided
Colon cancer
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA012965

rs_63750547

6 SubmittersRCV000075923 RCV000484245 RCV000677881 RCV000820731 RCV003452787 RCV003362686

NM_000249.4(MLH1):c.889G>T (p.Glu297Ter)

SNV
Germline

Chr3:37020314

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA012996

rs_63750736

2 SubmittersRCV000075927 RCV002371911

NM_000249.4(MLH1):c.901C>T (p.Gln301Ter)

SNV
Germline/somatic

Chr3:37020326

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
See cases

Reviewed By Expert Panel

CA013005

rs_63750489

8 SubmittersRCV000075928 RCV001223223 RCV001701489 RCV002371912 RCV003452788 RCV002287363

NM_000249.4(MLH1):c.911A>T (p.Asp304Val)

SNV
Germline/somatic

Chr3:37020336

Likely pathogenic

Lynch syndrome
Lynch-like syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA013044

rs_63750993

3 SubmittersRCV000075932 RCV001250011 RCV003452789

NM_000249.4(MLH1):c.918T>A (p.Asn306Lys)

SNV
Germline

Chr3:37020343

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA013067

rs_587779054

4 SubmittersRCV000075934 RCV000529157 RCV001523813 RCV004019106

NM_000249.4(MLH1):c.925C>T (p.Pro309Ser)

SNV
Germline

Chr3:37020350

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome
not specified

Criteria Provided
Conflicting Classifications

CA013121

rs_267607808

11 SubmittersRCV000486267 RCV000574268 RCV000684787 RCV003325180 RCV003997139 RCV004799779

NM_000249.4(MLH1):c.955G>A (p.Glu319Lys)

SNV
Germline

Chr3:37020380

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
not specified
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Condition: not provided
Malignant tumor of breast
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary cancer
MLH1-related disorder

Criteria Provided
Conflicting Classifications

CA013293

rs_63750796

22 SubmittersRCV000075945 RCV000115489 RCV000144597 RCV000212528 RCV000524325 RCV000410221 RCV000656859 RCV001357697 RCV000764484 RCV003492419 RCV003915040

NM_000249.4(MLH1):c.955G>T (p.Glu319Ter)

SNV
Germline

Chr3:37020380

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA013306

rs_63750796

6 SubmittersRCV000075946 RCV000578913 RCV001019484 RCV001034666 RCV000656559

NM_000249.4(MLH1):c.982C>T (p.Gln328Ter)

SNV
Germline

Chr3:37020407

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA013430

rs_587779058

5 SubmittersRCV000075952 RCV000166394 RCV001383394 RCV003452792

NM_000251.3(MSH2):c.-225G>C

SNV
Germline

Chr2:47402967

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Familial cancer of breast
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA021836

rs_138068023

6 SubmittersRCV000165718 RCV000409105 RCV001567568 RCV002055083 RCV005357479 RCV004734625

NM_000251.3(MSH2):c.1000A>T (p.Lys334Ter)

SNV
Germline

Chr2:47416353

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA016794

rs_587779063

3 SubmittersRCV000075993 RCV002321565 RCV005089513

NM_000251.3(MSH2):c.1009C>T (p.Gln337Ter)

SNV
Germline

Chr2:47416362

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
MSH2-related disorder
Muir-Torré syndrome
Mismatch repair cancer syndrome 2
Lynch syndrome 1
Lynch syndrome 1

Reviewed By Expert Panel

CA016831

rs_63750778

8 SubmittersRCV000075997 RCV000215536 RCV000153512 RCV001215910 RCV004537286 RCV005357480 RCV003452794

NM_000251.3(MSH2):c.1012G>A (p.Gly338Arg)

SNV
Germline

Chr2:47416365

Pathogenic/Likely pathogenic

Carcinoma of colon
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA016843

rs_63751004

5 SubmittersRCV000500876 RCV002345383 RCV002228181 RCV003452795

NM_000251.3(MSH2):c.1013G>A (p.Gly338Glu)

SNV
Germline/somatic

Chr2:47416366

Pathogenic

Lynch syndrome
Lynch-like syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA016852

rs_587779065

3 SubmittersRCV000075999 RCV001250033 RCV002354266

NM_000251.3(MSH2):c.1022T>C (p.Leu341Pro)

SNV
Germline

Chr2:47416375

Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA016875

rs_63751147

2 SubmittersRCV000076002 RCV001213427

NM_000251.3(MSH2):c.1034G>A (p.Trp345Ter)

SNV
Germline/somatic

Chr2:47416387

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch-like syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Reviewed By Expert Panel

CA016934

rs_63751027

6 SubmittersRCV000076004 RCV000691659 RCV001250028 RCV002390221 RCV003452796

NM_000251.3(MSH2):c.1035G>A (p.Trp345Ter)

SNV
Germline

Chr2:47416388

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colon cancer
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA016940

rs_63750396

8 SubmittersRCV000076005 RCV000202230 RCV000492045 RCV001258035 RCV001193248 RCV001854313

NM_000251.3(MSH2):c.1045C>G (p.Pro349Ala)

SNV
Germline/somatic

Chr2:47416398

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Papillary renal cell carcinoma type 1
Condition: not provided
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Lynch syndrome 1
not specified
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Hereditary nonpolyposis colon cancer
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA016975

rs_267607939

18 SubmittersRCV000128932 RCV000148635 RCV000588936 RCV000764423 RCV001844030 RCV000986664 RCV001085377 RCV005357481 RCV002279934 RCV004760366

NM_000251.3(MSH2):c.1046C>G (p.Pro349Arg)

SNV
Germline

Chr2:47416399

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Condition: not provided

Reviewed By Expert Panel

CA016981

rs_587779067

7 SubmittersRCV000076008 RCV000490568 RCV002399451 RCV004998190

NM_000251.3(MSH2):c.1046C>T (p.Pro349Leu)

SNV
Germline

Chr2:47416399

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Reviewed By Expert Panel

CA016990

rs_587779067

6 SubmittersRCV000076009 RCV000217955 RCV000508278 RCV000694503 RCV003452797

NM_000251.3(MSH2):c.1069G>C (p.Glu357Gln)

SNV
Germline

Chr2:47416422

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA017022

rs_587779069

3 SubmittersRCV000629705 RCV002408591 RCV003460713

NM_000251.3(MSH2):c.1075A>T (p.Arg359Ter)

SNV
Germline

Chr2:47416428

Pathogenic

Lynch syndrome

Reviewed By Expert Panel

CA017051

rs_587779070

1 SubmittersRCV000076012

NM_000251.3(MSH2):c.1076+1G>A

SNV
Germline

Chr2:47416430

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Lynch syndrome 1
Lynch syndrome 1
Mismatch repair cancer syndrome 2
Muir-Torré syndrome

Reviewed By Expert Panel

CA017072

rs_267607940

11 SubmittersRCV000076014 RCV000132414 RCV000485147 RCV000541273 RCV000763489 RCV003452798 RCV005364966

NM_000251.3(MSH2):c.1076+1G>T

SNV
Germline/somatic

Chr2:47416430

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA017079

rs_267607940

5 SubmittersRCV000076015 RCV000491884 RCV003452799 RCV003593893

NM_000251.3(MSH2):c.1077-1G>C

SNV
Germline

Chr2:47429741

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1

Reviewed By Expert Panel

CA017136

rs_267607944

8 SubmittersRCV000076019 RCV000491682 RCV001284005 RCV003452800

NM_000251.3(MSH2):c.1077-1G>T

SNV
Germline/somatic

Chr2:47429741

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Reviewed By Expert Panel

CA017143

rs_267607944

4 SubmittersRCV000076020 RCV001009855 RCV003452801

NM_000251.3(MSH2):c.1077-2A>C

SNV
Germline

Chr2:47429740

Pathogenic

Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified

Reviewed By Expert Panel

CA017167

rs_267607943

6 SubmittersRCV000076023 RCV000491115 RCV001207225 RCV001800372

NM_000251.3(MSH2):c.1077-2A>G

SNV
Germline

Chr2:47429740

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
MSH2-related disorder
Lynch syndrome 1

Reviewed By Expert Panel

CA017174

rs_267607943

6 SubmittersRCV000076024 RCV000491149 RCV000529751 RCV001811351 RCV004724794 RCV003452802

NM_000251.3(MSH2):c.1077-2A>T

SNV
Germline

Chr2:47429740

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA017180

rs_267607943

4 SubmittersRCV000076025 RCV002415552 RCV003452803 RCV003593894

NM_000251.3(MSH2):c.1077A>T (p.Arg359Ser)

SNV
Germline

Chr2:47429742

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA017208

rs_63751617

3 SubmittersRCV000076034 RCV001230748 RCV002415553

NM_000251.3(MSH2):c.1082A>G (p.Asn361Ser)

SNV
Germline

Chr2:47429747

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA017221

rs_587779072

4 SubmittersRCV000574719 RCV000629732 RCV003997140

NM_000251.3(MSH2):c.1120C>T (p.Gln374Ter)

SNV
Germline

Chr2:47429785

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1

Reviewed By Expert Panel

CA017272

rs_63750558

8 SubmittersRCV000076043 RCV000162405 RCV001385293 RCV001800373 RCV002272052

NM_000251.3(MSH2):c.1129C>T (p.Gln377Ter)

SNV
Germline

Chr2:47429794

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Reviewed By Expert Panel

CA017309

rs_63750267

6 SubmittersRCV000076045 RCV000583364 RCV001232220 RCV003452804

NM_000251.3(MSH2):c.1145G>A (p.Arg382His)

SNV
Germline

Chr2:47429810

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Breast and/or ovarian cancer
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA017350

rs_267607947

9 SubmittersRCV000487066 RCV000568561 RCV000663061 RCV000703497 RCV003149744 RCV003997141

NM_000251.3(MSH2):c.1147C>T (p.Arg383Ter)

SNV
Germline/somatic

Chr2:47429812

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Lynch syndrome 1
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Hereditary nonpolyposis colon cancer
Lynch-like syndrome
Rhabdomyosarcoma
MSH2-related disorder
Inherited MMR deficiency (Lynch syndrome)

Reviewed By Expert Panel

CA017356

rs_63749849

24 SubmittersRCV000076049 RCV000202261 RCV000221364 RCV000524330 RCV000576748 RCV000763490 RCV001192613 RCV001249954 RCV001257542 RCV004537287 RCV005237507

NM_000251.3(MSH2):c.114C>G (p.Asp38Glu)

SNV
Germline

Chr2:47403305

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA017363

rs_587779074

10 SubmittersRCV000164456 RCV000524331 RCV000780454 RCV000662913 RCV001564699

NM_000251.3(MSH2):c.1154C>T (p.Pro385Leu)

SNV
Germline

Chr2:47429819

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA017372

rs_564736113

6 SubmittersRCV001010013 RCV000794953 RCV001538801 RCV003997142 RCV005600644

NM_000251.3(MSH2):c.1165C>T (p.Arg389Ter)

SNV
Germline

Chr2:47429830

Pathogenic

Mismatch repair cancer syndrome 2
Carcinoma of colon
Lynch syndrome
Hereditary cancer-predisposing syndrome
MSH2-related disorder
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Mismatch repair cancer syndrome 1
Gastric cancer

Reviewed By Expert Panel

CA017391

rs_587779075

27 SubmittersRCV002255278 RCV001353542 RCV000076052 RCV000115494 RCV004734626 RCV000202008 RCV000524332 RCV000409481 RCV001332303 RCV003162491

NM_000251.3(MSH2):c.1183C>T (p.Gln395Ter)

SNV
Germline

Chr2:47429848

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA017425

rs_63750302

3 SubmittersRCV000076054 RCV002326789 RCV002514347

NM_000251.3(MSH2):c.1189C>T (p.Gln397Ter)

SNV
Germline

Chr2:47429854

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Reviewed By Expert Panel

CA017437

rs_63750611

5 SubmittersRCV000076055 RCV001385673 RCV001353639 RCV002336224 RCV003452805

NM_000251.3(MSH2):c.118G>A (p.Gly40Ser)

SNV
Germline

Chr2:47403309

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary breast ovarian cancer syndrome
not specified
Lynch syndrome 1
Lynch syndrome
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA017443

rs_63751260

9 SubmittersRCV000236371 RCV000491838 RCV000627704 RCV001030704 RCV000781559 RCV003466962 RCV003997143 RCV004528275

NM_000251.3(MSH2):c.1204C>T (p.Gln402Ter)

SNV
Germline

Chr2:47429869

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer
Lynch syndrome 1

Reviewed By Expert Panel

CA017497

rs_63751412

5 SubmittersRCV000076061 RCV000490977 RCV001071140 RCV002469004 RCV003452807

NM_000251.3(MSH2):c.1215C>A (p.Tyr405Ter)

SNV
Germline

Chr2:47429880

Pathogenic

Lynch syndrome
Muir-Torré syndrome
Mismatch repair cancer syndrome 2
Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA017512

rs_63751271

4 SubmittersRCV000076063 RCV005364967 RCV002354267

NM_000251.3(MSH2):c.1217G>A (p.Arg406Gln)

SNV
Germline

Chr2:47429882

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1
not specified
Lynch syndrome 1
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Hereditary nonpolyposis colorectal neoplasms
Breast and/or ovarian cancer
Malignant tumor of breast

Criteria Provided
Conflicting Classifications

CA017527

rs_146567853

14 SubmittersRCV000132166 RCV000212599 RCV000411777 RCV000781558 RCV000765665 RCV001083003 RCV001798264 RCV001356152

NM_000251.3(MSH2):c.1255C>T (p.Gln419Ter)

SNV
Germline

Chr2:47429920

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Reviewed By Expert Panel

CA017677

rs_63750006

8 SubmittersRCV000076080 RCV000202277 RCV001010574 RCV001383405 RCV003452812

NM_000251.3(MSH2):c.1264G>T (p.Glu422Ter)

SNV
Germline

Chr2:47429929

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Reviewed By Expert Panel

CA017696

rs_63751712

3 SubmittersRCV000076083 RCV002408592 RCV003452813

NM_000251.3(MSH2):c.1275A>G (p.Glu425=)

SNV
Germline

Chr2:47429940

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Polyp of colon
Hereditary nonpolyposis colorectal neoplasms
Carcinoma of colon
Lynch syndrome 1
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA017727

rs_63751650

17 SubmittersRCV000115500 RCV000202073 RCV000487506 RCV000735971 RCV001082316 RCV001357605 RCV004799181 RCV004537288

NM_000251.3(MSH2):c.1276+1G>A

SNV
Germline/somatic

Chr2:47429942

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch-like syndrome
Hereditary nonpolyposis colon cancer
Lynch syndrome 1
Lynch syndrome
Condition: not provided
Carcinoma of colon

Reviewed By Expert Panel

CA017744

rs_267607950

15 SubmittersRCV000491508 RCV000548164 RCV001250019 RCV002469005 RCV002272053 RCV000076086 RCV000786795 RCV001353592

NM_000251.3(MSH2):c.1276+1G>C

SNV
Germline

Chr2:47429942

Likely pathogenic

Lynch syndrome
Lynch syndrome 1

Reviewed By Expert Panel

CA017751

rs_267607950

2 SubmittersRCV000076087 RCV003452815

NM_000251.3(MSH2):c.1276+1G>T

SNV
Germline

Chr2:47429942

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Muir-Torré syndrome
Mismatch repair cancer syndrome 2
Lynch syndrome 1
Lynch syndrome 1
Hereditary nonpolyposis colon cancer
Condition: not provided

Reviewed By Expert Panel

CA017756

rs_267607950

8 SubmittersRCV000076088 RCV000491760 RCV000707663 RCV002498365 RCV003452816 RCV004700380 RCV003237437

NM_000251.3(MSH2):c.1276+2T>A

SNV
Germline

Chr2:47429943

Likely pathogenic

Lynch syndrome

Reviewed By Expert Panel

CA017764

rs_267607953

1 SubmittersRCV000076091

NM_000251.3(MSH2):c.1277-1G>A

SNV
Germline/somatic

Chr2:47445547

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Muir-Torré syndrome
Mismatch repair cancer syndrome 2
Lynch syndrome 1

Reviewed By Expert Panel

CA017815

rs_267607948

5 SubmittersRCV000076097 RCV002371915 RCV003452817 RCV005031557

NM_000251.3(MSH2):c.1277-1G>C

SNV
Germline

Chr2:47445547

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Reviewed By Expert Panel

CA017821

rs_267607948

3 SubmittersRCV000076098 RCV001010704 RCV003452818

NM_000251.3(MSH2):c.1277-2A>C

SNV
Germline

Chr2:47445546

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Reviewed By Expert Panel

CA017836

rs_267607949

4 SubmittersRCV000076100 RCV002371916 RCV005089514 RCV003452819

NM_000251.3(MSH2):c.1277-2A>G

SNV
Germline/somatic

Chr2:47445546

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch-like syndrome
Gastric cancer
Lynch syndrome 1

Reviewed By Expert Panel

CA017843

rs_267607949

5 SubmittersRCV000076101 RCV000566772 RCV001249916 RCV003162492 RCV003452820

NM_000251.3(MSH2):c.1285C>T (p.Gln429Ter)

SNV
Germline

Chr2:47445556

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1

Reviewed By Expert Panel

CA017883

rs_63751693

10 SubmittersRCV000076112 RCV000214917 RCV000627701 RCV001353690 RCV001823109

NM_000251.3(MSH2):c.1288A>T (p.Lys430Ter)

SNV
Germline

Chr2:47445559

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colon cancer

Reviewed By Expert Panel

CA017899

rs_63751646

2 SubmittersRCV000076114 RCV001260434

NM_000251.3(MSH2):c.128A>G (p.Tyr43Cys)

SNV
Germline

Chr2:47403319

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Lynch syndrome 1
Sarcoma
MSH2-related disorder
Hereditary cancer
Mismatch repair cancer syndrome 2
Muir-Torré syndrome
Lynch syndrome 1
Muir-Torré syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA017905

rs_17217723

19 SubmittersRCV000212578 RCV000131211 RCV000409784 RCV000524339 RCV000656872 RCV000764419 RCV001262887 RCV004537289 RCV004700381 RCV005394319 RCV003330424

NM_000251.3(MSH2):c.1292T>A (p.Leu431Ter)

SNV
Germline

Chr2:47445563

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA017911

rs_63751315

2 SubmittersRCV000076116 RCV002381383

NM_000251.3(MSH2):c.129T>G (p.Tyr43Ter)

SNV
Germline

Chr2:47403320

Pathogenic

Lynch syndrome

Reviewed By Expert Panel

CA017923

rs_63750894

1 SubmittersRCV000076117

NM_000251.3(MSH2):c.1319T>C (p.Leu440Pro)

SNV
Germline

Chr2:47445590

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA017968

rs_587779084

4 SubmittersRCV000076121 RCV000491100 RCV002514349

NM_000251.3(MSH2):c.1321A>C (p.Thr441Pro)

SNV
Germline

Chr2:47445592

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome 1
Lynch syndrome
Breast and/or ovarian cancer
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA018000

rs_587779086

18 SubmittersRCV000478413 RCV000524340 RCV000446874 RCV001001300 RCV001143792 RCV003997145 RCV003492421 RCV004734628

NM_000251.3(MSH2):c.1345A>T (p.Lys449Ter)

SNV
Germline

Chr2:47445616

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Reviewed By Expert Panel

CA018043

rs_63749920

4 SubmittersRCV000076128 RCV001383406 RCV002381386 RCV003452823

NM_000251.3(MSH2):c.1354G>T (p.Glu452Ter)

SNV
Germline

Chr2:47445625

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Reviewed By Expert Panel

CA018073

rs_267607954

4 SubmittersRCV000076132 RCV000573345 RCV000791561 RCV003452825

NM_000251.3(MSH2):c.1358T>A (p.Met453Lys)

SNV
Germline

Chr2:47445629

Pathogenic

Lynch syndrome

Reviewed By Expert Panel

CA018085

rs_63750697

1 SubmittersRCV000076134

NM_000251.3(MSH2):c.1373T>G (p.Leu458Ter)

SNV
Germline

Chr2:47445644

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Reviewed By Expert Panel

CA018102

rs_63750521

5 SubmittersRCV000076136 RCV000160582 RCV002381387 RCV003452827

NM_000251.3(MSH2):c.1386+1G>A

SNV
Germline

Chr2:47445658

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer
Hereditary nonpolyposis colorectal carcinoma
Condition: not provided
Lynch syndrome 1

Reviewed By Expert Panel

CA018130

rs_267607957

9 SubmittersRCV000076137 RCV000491969 RCV000684786 RCV001268971 RCV001789614 RCV004696688 RCV003452828

NM_000251.3(MSH2):c.1386+1G>C

SNV
Germline

Chr2:47445658

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA018136

rs_267607957

2 SubmittersRCV000076138 RCV002390222

NM_000251.3(MSH2):c.1386+1G>T

SNV
Germline

Chr2:47445658

Likely pathogenic

Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Muir-Torré syndrome
Mismatch repair cancer syndrome 2
Lynch syndrome 1
Lynch syndrome 1

Reviewed By Expert Panel

CA018142

rs_267607957

8 SubmittersRCV000076139 RCV001723646 RCV002390223 RCV002514350 RCV004796004 RCV003452829

NM_000251.3(MSH2):c.1387-1G>T

SNV
Germline

Chr2:47463030

Likely pathogenic

Lynch syndrome

Reviewed By Expert Panel

CA018168

rs_267607956

1 SubmittersRCV000076141

NM_000251.3(MSH2):c.1387-9T>A

SNV
Germline

Chr2:47463022

Pathogenic

Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA018205

rs_587779087

3 SubmittersRCV000076144 RCV000509472

NM_000251.3(MSH2):c.1399G>T (p.Glu467Ter)

SNV
Germline

Chr2:47463043

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Reviewed By Expert Panel

CA018225

rs_587779089

4 SubmittersRCV000076152 RCV001355815 RCV001011383 RCV003452830

NM_000251.3(MSH2):c.1418C>G (p.Ser473Ter)

SNV
Germline

Chr2:47463062

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Reviewed By Expert Panel

CA018248

rs_63751403

4 SubmittersRCV000076155 RCV002390224 RCV003452832

NM_000251.3(MSH2):c.1418C>T (p.Ser473Leu)

SNV
Germline

Chr2:47463062

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Colorectal cancer, non-polyposis
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA018254

rs_63751403

9 SubmittersRCV000218562 RCV000482094 RCV000148630 RCV000627720 RCV003466964 RCV003997147

NM_000251.3(MSH2):c.142G>T (p.Glu48Ter)

SNV
Germline

Chr2:47403333

Pathogenic

Lynch syndrome
not specified
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Carcinoma of colon

Reviewed By Expert Panel

CA018272

rs_63750615

10 SubmittersRCV000076158 RCV000506167 RCV000582377 RCV000537461 RCV000662482 RCV001011543 RCV001354006

NM_000251.3(MSH2):c.1444A>T (p.Arg482Ter)

SNV
Germline

Chr2:47463088

Pathogenic

Lynch syndrome
Lynch syndrome 1

Reviewed By Expert Panel

CA018301

rs_587779092

3 SubmittersRCV000076160 RCV003452833

NM_000251.3(MSH2):c.1447G>T (p.Glu483Ter)

SNV
Germline

Chr2:47463091

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
MSH2-related disorder

Reviewed By Expert Panel

CA018326

rs_63749947

7 SubmittersRCV000076164 RCV001064013 RCV001269568 RCV002390225 RCV004797777

NM_000251.3(MSH2):c.1461C>G (p.Asp487Glu)

SNV
Germline

Chr2:47463105

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Breast and/or ovarian cancer
not specified
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA018356

rs_35107951

16 SubmittersRCV000076170 RCV000131869 RCV000411837 RCV000524343 RCV000590052 RCV001798266 RCV001797621 RCV004734629

NM_000251.3(MSH2):c.146A>T (p.Asp49Val)

SNV
Germline

Chr2:47403337

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
not specified

Criteria Provided
Conflicting Classifications

CA018373

rs_63750335

11 SubmittersRCV000160615 RCV000221403 RCV000662586 RCV000684812 RCV003997148 RCV002267841

NM_000251.3(MSH2):c.1477C>T (p.Gln493Ter)

SNV
Germline

Chr2:47463121

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Carcinoma of colon
Lynch syndrome 1

Reviewed By Expert Panel

CA018386

rs_63750936

9 SubmittersRCV000076173 RCV000129104 RCV000630148 RCV000759818 RCV001356325 RCV003452836

NM_000251.3(MSH2):c.1487T>A (p.Leu496Ter)

SNV
Germline

Chr2:47463131

Pathogenic

Lynch syndrome

Reviewed By Expert Panel

CA018422

rs_587779093

1 SubmittersRCV000076174

NM_000251.3(MSH2):c.14C>A (p.Pro5Gln)

SNV
Germline

Chr2:47403205

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
not specified
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Ovarian cancer
Hereditary nonpolyposis colon cancer

Criteria Provided
Conflicting Classifications

CA018457

rs_56170584

16 SubmittersRCV000076178 RCV000165088 RCV000412350 RCV000486935 RCV000524345 RCV000781557 RCV001030703 RCV001354505 RCV003153355 RCV002513806

NM_000251.3(MSH2):c.1508T>C (p.Leu503Pro)

SNV
Germline

Chr2:47463152

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA018480

rs_587779095

2 SubmittersRCV000580795 RCV003452837

NM_000251.3(MSH2):c.1511-2A>G

SNV
Germline

Chr2:47466656

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Reviewed By Expert Panel

CA018508

rs_267607962

8 SubmittersRCV000076184 RCV000491325 RCV000583875 RCV001388415 RCV003452838

NM_000251.3(MSH2):c.1528C>T (p.Gln510Ter)

SNV
Germline

Chr2:47466675

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Reviewed By Expert Panel

CA018553

rs_587779097

4 SubmittersRCV000076189 RCV002228182 RCV002390227 RCV003452839

NM_000251.3(MSH2):c.1552C>T (p.Gln518Ter)

SNV
Germline

Chr2:47466699

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Reviewed By Expert Panel

CA018597

rs_63750780

9 SubmittersRCV000076192 RCV000657577 RCV000701635 RCV001187045 RCV003452840

NM_000251.3(MSH2):c.1563T>C (p.Tyr521=)

SNV
Germline

Chr2:47466710

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
not specified
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary nonpolyposis colon cancer
Breast and/or ovarian cancer
Lynch syndrome
Malignant tumor of breast

Criteria Provided
Conflicting Classifications

CA018611

rs_63750330

17 SubmittersRCV000126814 RCV000409514 RCV000212604 RCV000524348 RCV001092632 RCV003323289 RCV003149746 RCV003997150 RCV001354893

NM_000251.3(MSH2):c.1566C>G (p.Tyr522Ter)

SNV
Germline

Chr2:47466713

Pathogenic

Lynch syndrome
Endometrial carcinoma
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA018620

rs_63750224

6 SubmittersRCV000076195 RCV001357508 RCV001388417 RCV001823110 RCV002399452

NM_000251.3(MSH2):c.1600C>T (p.Arg534Cys)

SNV
Germline/somatic

Chr2:47466747

Conflicting classifications of pathogenicity

Lynch syndrome
Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
not specified
Muir-Torré syndrome
Lynch syndrome 1
Mismatch repair cancer syndrome 2

Criteria Provided
Conflicting Classifications

CA018706

rs_63750029

12 SubmittersRCV000076204 RCV000410514 RCV000491263 RCV000524349 RCV000588411 RCV001175346 RCV005031558

NM_000251.3(MSH2):c.1640A>G (p.Asn547Ser)

SNV
Germline

Chr2:47466787

Conflicting classifications of pathogenicity

Lynch syndrome 1
not specified
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA018784

rs_267607967

8 SubmittersRCV000411811 RCV000506572 RCV000697749 RCV001191249 RCV001800374

NM_000251.3(MSH2):c.1642G>T (p.Gly548Cys)

SNV
Germline

Chr2:47466789

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Lynch syndrome
not specified

Criteria Provided
Conflicting Classifications

CA018790

rs_63750538

8 SubmittersRCV000479671 RCV000524350 RCV000490983 RCV003466965 RCV003997151 RCV003317077

NM_000251.3(MSH2):c.1654A>C (p.Thr552Pro)

SNV
Germline

Chr2:47466801

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA018802

rs_63750838

3 SubmittersRCV000213657 RCV002514351 RCV003452845

NM_000251.3(MSH2):c.1660A>C (p.Ser554Arg)

SNV
Germline

Chr2:47466807

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA018807

rs_63751656

3 SubmittersRCV001898807 RCV002397878 RCV003452120

NM_000251.3(MSH2):c.1660A>G (p.Ser554Gly)

SNV
Germline

Chr2:47466807

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA018814

rs_63751656

5 SubmittersRCV000076214 RCV000491028 RCV000985797 RCV003452846 RCV003593895

NM_000251.3(MSH2):c.1660A>T (p.Ser554Cys)

SNV
Germline

Chr2:47466807

Pathogenic

Lynch syndrome

Reviewed By Expert Panel

CA018820

rs_63751656

1 SubmittersRCV000076215

NM_000251.3(MSH2):c.1661+1G>A

SNV
Germline

Chr2:47466809

Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Condition: not provided
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA018837

rs_267607969

7 SubmittersRCV000076216 RCV000627711 RCV000986675 RCV002465505 RCV002399455

NM_000251.3(MSH2):c.1661+1G>T

SNV
Germline/somatic

Chr2:47466809

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Muir-Torré syndrome
Mismatch repair cancer syndrome 2
Lynch syndrome 1

Reviewed By Expert Panel

CA018841

rs_267607969

7 SubmittersRCV000076217 RCV000491252 RCV000986676 RCV001070711 RCV002498366

NM_000251.3(MSH2):c.1661+5G>C

SNV
Germline

Chr2:47466813

Pathogenic/Likely pathogenic

Endometrial carcinoma
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA018846

rs_267607972

7 SubmittersRCV000076218 RCV000490916 RCV000812895 RCV003327366 RCV004019107

NM_000251.3(MSH2):c.1661G>C (p.Ser554Thr)

SNV
Germline

Chr2:47466808

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA018877

rs_63750597

5 SubmittersRCV000076221 RCV000491785 RCV001357409 RCV003452847 RCV003593896

NM_000251.3(MSH2):c.1662-1G>A

SNV
Germline/somatic

Chr2:47470964

Pathogenic

Muir-Torré syndrome
Lynch syndrome 1
Mismatch repair cancer syndrome 2
Mismatch repair cancer syndrome 2
Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch-like syndrome
Lynch syndrome 1

Reviewed By Expert Panel

CA018892

rs_267607970

9 SubmittersRCV005031559 RCV000001836 RCV000076224 RCV000491087 RCV001239294 RCV001249923 RCV003452848

NM_000251.3(MSH2):c.1662-2A>G

SNV
Germline

Chr2:47470963

Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA018902

rs_267607971

4 SubmittersRCV000076225 RCV000560516 RCV001526860 RCV002399456

NM_000251.3(MSH2):c.166G>T (p.Glu56Ter)

SNV
Germline

Chr2:47403357

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Reviewed By Expert Panel

CA018959

rs_587779102

4 SubmittersRCV000076238 RCV002399458 RCV003452849

NM_000251.3(MSH2):c.1681G>A (p.Glu561Lys)

SNV
Germline

Chr2:47470984

Conflicting classifications of pathogenicity

Lynch syndrome 1
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Mismatch repair cancer syndrome 1
Lynch syndrome
Lynch syndrome 1
Mismatch repair cancer syndrome 2
Muir-Torré syndrome
not specified

Criteria Provided
Conflicting Classifications

CA018988

rs_63750328

16 SubmittersRCV000410128 RCV000484663 RCV000524354 RCV000568086 RCV001198848 RCV003997152 RCV005394320 RCV005417454

NM_000251.3(MSH2):c.1693A>T (p.Lys565Ter)

SNV
Germline

Chr2:47470996

Pathogenic

Lynch syndrome

Reviewed By Expert Panel

CA019034

rs_587779104

1 SubmittersRCV000076248

NM_000251.3(MSH2):c.1699A>T (p.Lys567Ter)

SNV
Germline

Chr2:47471002

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Reviewed By Expert Panel

CA019047

rs_63751149

4 SubmittersRCV000076250 RCV004639136 RCV001854316 RCV004786357

NM_000251.3(MSH2):c.1720C>T (p.Gln574Ter)

SNV
Germline

Chr2:47471023

Pathogenic

Lynch syndrome
Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA019108

rs_63751298

4 SubmittersRCV000076257 RCV003452853 RCV002399460

NM_000251.3(MSH2):c.1738G>T (p.Glu580Ter)

SNV
Germline/somatic

Chr2:47471041

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Ovarian neoplasm
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Lynch-like syndrome

Reviewed By Expert Panel

CA019142

rs_63751411

9 SubmittersRCV000076261 RCV000491635 RCV000483706 RCV000785573 RCV000552781 RCV003452854 RCV001249917

NM_000251.3(MSH2):c.1759+1G>A

SNV
Germline

Chr2:47471063

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer
Condition: not provided
Lynch syndrome 1

Reviewed By Expert Panel

CA019177

rs_587779108

9 SubmittersRCV000076265 RCV000213952 RCV000558350 RCV001193999 RCV001508076 RCV002272054

NM_000251.3(MSH2):c.1759+2T>A

SNV
Germline

Chr2:47471064

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided

Reviewed By Expert Panel

CA019182

rs_267607976

4 SubmittersRCV000076266 RCV000131428 RCV001052476 RCV003137611

NM_000251.3(MSH2):c.1759+2T>C

SNV
Germline

Chr2:47471064

Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA019188

rs_267607976

5 SubmittersRCV000076267 RCV000804797 RCV001013049

NM_000251.3(MSH2):c.1759G>C (p.Gly587Arg)

SNV
Germline

Chr2:47471062

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Reviewed By Expert Panel

CA019199

rs_63751140

4 SubmittersRCV000076270 RCV000700587 RCV002408594 RCV003452855

NM_000251.3(MSH2):c.1760-1G>A

SNV
Germline/somatic

Chr2:47475024

Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colon cancer

Reviewed By Expert Panel

CA019206

rs_587779110

12 SubmittersRCV000076272 RCV000546853 RCV000481985 RCV000491462 RCV003452856 RCV003993791

NM_000251.3(MSH2):c.1764T>G (p.Tyr588Ter)

SNV
Germline/somatic

Chr2:47475029

Pathogenic

Lynch syndrome
Lynch-like syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA019239

rs_63750844

3 SubmittersRCV000076279 RCV001250030 RCV002399462

NM_000251.3(MSH2):c.1774A>G (p.Met592Val)

SNV
Germline

Chr2:47475039

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1
Malignant tumor of breast
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA019271

rs_371614039

16 SubmittersRCV000160595 RCV000212609 RCV000524360 RCV000656879 RCV000662460 RCV001357833 RCV003997153

NM_000251.3(MSH2):c.1777C>T (p.Gln593Ter)

SNV
Germline/somatic

Chr2:47475042

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch-like syndrome
Condition: not provided
Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA019278

rs_63750200

7 SubmittersRCV000076282 RCV000540595 RCV001249920 RCV001269629 RCV003452857 RCV002399463

NM_000251.3(MSH2):c.1808A>G (p.Asp603Gly)

SNV
Germline

Chr2:47475073

Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA019354

rs_267607985

4 SubmittersRCV000076292 RCV001854317 RCV003460714 RCV002408595

NM_000251.3(MSH2):c.181C>T (p.Gln61Ter)

SNV
Germline

Chr2:47403372

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1

Reviewed By Expert Panel

CA019387

rs_63750951

11 SubmittersRCV000076295 RCV000219541 RCV000524363 RCV000202086 RCV003452858

NM_000251.3(MSH2):c.1828C>A (p.His610Asn)

SNV
Germline

Chr2:47475093

Conflicting classifications of pathogenicity

Condition: not provided
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA019403

rs_267607980

6 SubmittersRCV000428720 RCV000663086 RCV000707667 RCV001526105

NM_000251.3(MSH2):c.182A>C (p.Gln61Pro)

SNV
Germline

Chr2:47403373

Conflicting classifications of pathogenicity

Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA019414

rs_587779113

9 SubmittersRCV000662761 RCV000708715 RCV001218170 RCV001703978 RCV003317078 RCV003997154

NM_000251.3(MSH2):c.1835C>G (p.Ser612Ter)

SNV
Germline

Chr2:47475100

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Carcinoma of colon
Lynch syndrome 1

Reviewed By Expert Panel

CA019418

rs_63750493

8 SubmittersRCV000076300 RCV000202183 RCV000491040 RCV000629963 RCV001357329 RCV003452860

NM_000251.3(MSH2):c.1857T>G (p.Tyr619Ter)

SNV
Germline

Chr2:47475122

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Reviewed By Expert Panel

CA019449

rs_63750312

4 SubmittersRCV000076303 RCV000688460 RCV002408598 RCV003452862

NM_000251.3(MSH2):c.1861C>T (p.Arg621Ter)

SNV
Germline/somatic

Chr2:47475126

Pathogenic

Lynch syndrome
Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Lynch-like syndrome
Hereditary nonpolyposis colon cancer
Breast carcinoma
Muir-Torré syndrome
Mismatch repair cancer syndrome 2
Lynch syndrome 1
Inherited MMR deficiency (Lynch syndrome)

Reviewed By Expert Panel

CA019461

rs_63750508

20 SubmittersRCV000076305 RCV000602838 RCV000491286 RCV000414448 RCV000763492 RCV000524364 RCV001249915 RCV001328039 RCV001650893 RCV005357487 RCV005055066

NM_000251.3(MSH2):c.1864C>A (p.Pro622Thr)

SNV
Germline

Chr2:47475129

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA019468

rs_63750280

4 SubmittersRCV000491749 RCV000255200 RCV001036384 RCV003452863

NM_000251.3(MSH2):c.1885C>T (p.Gln629Ter)

SNV
Germline

Chr2:47475150

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer
Lynch syndrome 1

Reviewed By Expert Panel

CA019511

rs_63750203

5 SubmittersRCV000076313 RCV001013537 RCV001071237 RCV003478996 RCV003452867

NM_000251.3(MSH2):c.1907C>T (p.Ala636Val)

SNV
Germline

Chr2:47475172

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA019539

rs_63750279

9 SubmittersRCV000524367 RCV000583770 RCV001588896 RCV004689445 RCV004806055 RCV003460715

NM_000251.3(MSH2):c.1933C>G (p.Gln645Glu)

SNV
Germline

Chr2:47475198

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA019587

rs_267607982

8 SubmittersRCV000115513 RCV000540956 RCV000573883 RCV000662923 RCV003997155

NM_000251.3(MSH2):c.1955C>A (p.Pro652His)

SNV
Germline

Chr2:47475220

Likely pathogenic

Lynch syndrome

Reviewed By Expert Panel

CA019605

rs_267607983

1 SubmittersRCV000076325

NM_000251.3(MSH2):c.1968C>G (p.Tyr656Ter)

SNV
Germline

Chr2:47475233

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Condition: not provided

Reviewed By Expert Panel

CA019616

rs_63751317

5 SubmittersRCV000076327 RCV001013869 RCV001069113 RCV003452869 RCV004998191

NM_000251.3(MSH2):c.2005+1G>A

SNV
Germline

Chr2:47475271

Likely pathogenic

Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Reviewed By Expert Panel

CA019701

rs_267607986

5 SubmittersRCV000076337 RCV000078422 RCV001014038 RCV001068056 RCV003452871

NM_000251.3(MSH2):c.2005+1G>C

SNV
Germline

Chr2:47475271

Likely pathogenic

Lynch syndrome
Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA019708

rs_267607986

3 SubmittersRCV000076338 RCV003452872 RCV003162495

NM_000251.3(MSH2):c.2005+1G>T

SNV
Germline

Chr2:47475271

Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Reviewed By Expert Panel

CA019713

rs_267607986

4 SubmittersRCV000076339 RCV001854321 RCV002415557 RCV003452873

NM_000251.3(MSH2):c.2005+2T>C

SNV
Germline

Chr2:47475272

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA019723

rs_267607987

5 SubmittersRCV000076341 RCV002415558 RCV003452874 RCV003593898

NM_000251.3(MSH2):c.2006-1G>C

SNV
Germline

Chr2:47476366

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Reviewed By Expert Panel

CA019741

rs_267607988

4 SubmittersRCV000076347 RCV000491159 RCV001379378 RCV003452876

NM_000251.3(MSH2):c.2006-2A>G

SNV
Germline

Chr2:47476365

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colon cancer
Condition: not provided
Lynch syndrome 1

Reviewed By Expert Panel

CA019751

rs_267607991

6 SubmittersRCV000076349 RCV000774579 RCV001420710 RCV004998192 RCV003452877

NM_000251.3(MSH2):c.2006G>A (p.Gly669Asp)

SNV
Germline/somatic

Chr2:47476367

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA019774

rs_63751640

4 SubmittersRCV000076354 RCV001854322 RCV003452878 RCV002415559

NM_000251.3(MSH2):c.2006G>T (p.Gly669Val)

SNV
Germline

Chr2:47476367

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Condition: not provided
Lynch syndrome 1

Reviewed By Expert Panel

CA019785

rs_63751640

7 SubmittersRCV000076356 RCV000491447 RCV000692084 RCV000581599 RCV002477219 RCV003452879

NM_000251.3(MSH2):c.2009C>T (p.Pro670Leu)

SNV
Germline

Chr2:47476370

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Lynch syndrome 1
not specified
Lynch syndrome
Lynch syndrome 1
MSH2-related disorder
Muir-Torré syndrome
Lynch syndrome 1
Mismatch repair cancer syndrome 2

Criteria Provided
Conflicting Classifications

CA019790

rs_41294982

12 SubmittersRCV000220086 RCV000483333 RCV000524371 RCV000765672 RCV002265597 RCV003997156 RCV003389040 RCV004734631 RCV005394321

NM_000251.3(MSH2):c.2011A>T (p.Asn671Tyr)

SNV
Germline

Chr2:47476372

Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA019806

rs_63751232

2 SubmittersRCV002417363 RCV003454316

NM_000251.3(MSH2):c.2013T>A (p.Asn671Lys)

SNV
Germline

Chr2:47476374

Conflicting classifications of pathogenicity

Condition: not provided
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA019811

rs_587779127

4 SubmittersRCV000759107 RCV003452880 RCV003758687 RCV004019108

NM_000251.3(MSH2):c.2020G>C (p.Gly674Arg)

SNV
Germline

Chr2:47476381

Likely pathogenic

Lynch syndrome
Lynch syndrome 1
Condition: not provided
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA019825

rs_63750234

5 SubmittersRCV000076362 RCV003452881 RCV001723648 RCV004943750

NM_000251.3(MSH2):c.2021G>A (p.Gly674Asp)

SNV
Germline

Chr2:47476382

Likely pathogenic

Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Reviewed By Expert Panel

CA019835

rs_267607996

5 SubmittersRCV000076363 RCV000254985 RCV002415560 RCV003452882

NM_000251.3(MSH2):c.2047G>A (p.Gly683Arg)

SNV
Germline

Chr2:47476408

Pathogenic

Lynch syndrome
not specified
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer
Condition: not provided
Lynch syndrome 1

Reviewed By Expert Panel

CA019900

rs_267607995

9 SubmittersRCV000076370 RCV000202225 RCV000132039 RCV000524373 RCV001264415 RCV001588897 RCV003452883

NM_000251.3(MSH2):c.2060T>C (p.Leu687Pro)

SNV
Germline

Chr2:47476421

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary nonpolyposis colon cancer
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA019927

rs_587779133

8 SubmittersRCV000160600 RCV000524374 RCV000586744 RCV004700382 RCV003452885

NM_000251.3(MSH2):c.2063T>G (p.Met688Arg)

SNV
Germline

Chr2:47476424

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Carcinoma of colon
Lynch syndrome 1

Reviewed By Expert Panel

CA019937

rs_63749993

6 SubmittersRCV000076376 RCV000524375 RCV000491088 RCV001284172 RCV001353848 RCV001804825

NM_000251.3(MSH2):c.2064G>A (p.Met688Ile)

SNV
Germline

Chr2:47476425

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary breast ovarian cancer syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome
not specified

Criteria Provided
Conflicting Classifications

CA019942

rs_63750790

15 SubmittersRCV000165796 RCV000410248 RCV001030713 RCV000524376 RCV001588898 RCV003997157 RCV001260344

NM_000251.3(MSH2):c.2074G>C (p.Gly692Arg)

SNV
Germline

Chr2:47476435

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA019963

rs_63750232

4 SubmittersRCV000076380 RCV000491588 RCV000821619

NM_000251.3(MSH2):c.2075G>T (p.Gly692Val)

SNV
Germline

Chr2:47476436

Likely pathogenic

Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colon cancer

Reviewed By Expert Panel

CA019969

rs_63751432

5 SubmittersRCV000076382 RCV005089518 RCV001355702 RCV002415563 RCV005621870

NM_000251.3(MSH2):c.2087C>T (p.Pro696Leu)

SNV
Germline

Chr2:47476448

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Inherited MMR deficiency (Lynch syndrome)

Reviewed By Expert Panel

CA019979

rs_267607994

7 SubmittersRCV000076383 RCV000501546 RCV000492029 RCV001034643 RCV003452886 RCV005430965

NM_000251.3(MSH2):c.2089T>C (p.Cys697Arg)

SNV
Germline

Chr2:47476450

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Muir-Torré syndrome
Mismatch repair cancer syndrome 2
Lynch syndrome 1
MSH2-related disorder

Reviewed By Expert Panel

CA019984

rs_63750961

7 SubmittersRCV000076384 RCV002228184 RCV002415564 RCV005394322 RCV004537293

NM_000251.3(MSH2):c.2090G>T (p.Cys697Phe)

SNV
Germline

Chr2:47476451

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA019999

rs_63750398

4 SubmittersRCV000076385 RCV000571689 RCV003593899

NM_000251.3(MSH2):c.2091T>A (p.Cys697Ter)

SNV
Germline

Chr2:47476452

Pathogenic

Lynch syndrome
Condition: not provided
Lynch syndrome 1

Reviewed By Expert Panel

CA020005

rs_63750872

3 SubmittersRCV000076386 RCV000657647 RCV003452887

NM_000251.3(MSH2):c.2096C>G (p.Ser699Ter)

SNV
Germline

Chr2:47476457

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Reviewed By Expert Panel

CA020010

rs_587779136

8 SubmittersRCV000076387 RCV000490933 RCV000657578 RCV002228185 RCV003452888

NM_000251.3(MSH2):c.212-1G>A

SNV
Germline/somatic

Chr2:47408400

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch-like syndrome
Lynch syndrome 1

Reviewed By Expert Panel

CA020080

rs_267607914

12 SubmittersRCV000076394 RCV000202270 RCV000218216 RCV000696322 RCV001250032 RCV003452890

NM_000251.3(MSH2):c.212-2A>G

SNV
Germline

Chr2:47408399

Likely pathogenic

Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colon cancer
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA020085

rs_267607917

8 SubmittersRCV000076395 RCV001699196 RCV002415565 RCV003452891 RCV004767060 RCV005089519

NM_000251.3(MSH2):c.212-478T>G

SNV
Germline

Chr2:47407923

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA020095

rs_587779138

4 SubmittersRCV000076396 RCV002415566 RCV005357488 RCV005089520

NM_000251.3(MSH2):c.2123T>A (p.Ile708Asn)

SNV
Germline

Chr2:47476484

Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA020091

rs_63750108

2 SubmittersRCV002417652 RCV003454328

NM_000251.3(MSH2):c.2131C>T (p.Arg711Ter)

SNV
Germline/somatic

Chr2:47476492

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Hereditary nonpolyposis colorectal neoplasms
Lynch-like syndrome
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Lynch syndrome 1
Lynch syndrome 1

Reviewed By Expert Panel

CA020107

rs_63750636

26 SubmittersRCV000076405 RCV000129341 RCV000202062 RCV001000186 RCV000524377 RCV001249926 RCV000763494 RCV002272055

NM_000251.3(MSH2):c.2141C>T (p.Ala714Val)

SNV
Germline

Chr2:47476502

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
MSH2-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA020132

rs_63751224

6 SubmittersRCV003997159 RCV000574384 RCV000535935 RCV004537294 RCV005603599

NM_000251.3(MSH2):c.2152C>T (p.Gln718Ter)

SNV
Germline

Chr2:47476513

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Carcinoma of colon
Lynch syndrome 1
Hereditary nonpolyposis colon cancer

Reviewed By Expert Panel

CA020138

rs_587779139

13 SubmittersRCV000076411 RCV000214955 RCV000506389 RCV000627699 RCV001353948 RCV001804826 RCV004767061

NM_000251.3(MSH2):c.2168C>T (p.Ser723Phe)

SNV
Germline

Chr2:47476529

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA020163

rs_63750794

7 SubmittersRCV000802176 RCV002465506 RCV003320558 RCV003584545

NM_000251.3(MSH2):c.2191G>T (p.Glu731Ter)

SNV
Germline

Chr2:47476552

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Reviewed By Expert Panel

CA020196

rs_63749802

3 SubmittersRCV000076417 RCV002415567 RCV003452893

NM_000251.3(MSH2):c.2210+1G>A

SNV
Germline

Chr2:47476572

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer
Lynch syndrome 1

Reviewed By Expert Panel

CA020243

rs_267608002

9 SubmittersRCV000076423 RCV000490900 RCV000524382 RCV005237508 RCV003452895

NM_000251.3(MSH2):c.2210+1G>C

SNV
Germline

Chr2:47476572

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA020247

rs_267608002

2 SubmittersRCV000076424 RCV003584546

NM_000251.3(MSH2):c.2211-10T>A

SNV
Germline

Chr2:47478262

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA020271

rs_267608006

6 SubmittersRCV000478566 RCV000491555 RCV000791387 RCV003997160 RCV003460716

NM_000251.3(MSH2):c.2211-1G>T

SNV
Germline/somatic

Chr2:47478271

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Reviewed By Expert Panel

CA020276

rs_267607979

5 SubmittersRCV000076430 RCV000490951 RCV001854325 RCV003452896

NM_000251.3(MSH2):c.2211-2A>C

SNV
Germline

Chr2:47478270

Likely pathogenic

Lynch syndrome
Lynch syndrome 1
Condition: not provided

Reviewed By Expert Panel

CA020281

rs_267608001

3 SubmittersRCV000076431 RCV001823111 RCV004696689

NM_000251.3(MSH2):c.2211-2A>T

SNV
Germline

Chr2:47478270

Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1

Reviewed By Expert Panel

CA020287

rs_267608001

5 SubmittersRCV000076432 RCV001854326 RCV003228904 RCV003452897

NM_000251.3(MSH2):c.2228C>A (p.Ser743Ter)

SNV
Germline

Chr2:47478289

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA020302

rs_63751155

6 SubmittersRCV000076434 RCV000236386 RCV001062167 RCV003452898 RCV004649067

NM_000251.3(MSH2):c.2228C>G (p.Ser743Ter)

SNV
Germline

Chr2:47478289

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Condition: not provided

Reviewed By Expert Panel

CA020306

rs_63751155

9 SubmittersRCV000076435 RCV000491630 RCV000630114 RCV000851293 RCV001353876

NM_000251.3(MSH2):c.2231T>G (p.Leu744Ter)

SNV
Germline

Chr2:47478292

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA020311

rs_63750403

2 SubmittersRCV000076437 RCV002426634

NM_000251.3(MSH2):c.2245G>A (p.Glu749Lys)

SNV
Germline

Chr2:47478306

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Reviewed By Expert Panel

CA020357

rs_63751477

4 SubmittersRCV000076444 RCV000218283 RCV001062435 RCV003452901

NM_000251.3(MSH2):c.2251G>A (p.Gly751Arg)

SNV
Germline

Chr2:47478312

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Reviewed By Expert Panel

CA020361

rs_63751119

4 SubmittersRCV000076445 RCV000561670 RCV003452902

NM_000251.3(MSH2):c.226C>T (p.Gln76Ter)

SNV
Germline/somatic

Chr2:47408415

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch-like syndrome
Lynch syndrome 1

Reviewed By Expert Panel

CA020381

rs_63750042

8 SubmittersRCV000076447 RCV000202307 RCV000491576 RCV000684780 RCV001250039 RCV003312993

NM_000251.3(MSH2):c.2275G>T (p.Gly759Ter)

SNV
Germline

Chr2:47478336

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Reviewed By Expert Panel

CA020392

rs_63749854

4 SubmittersRCV000076448 RCV000223378 RCV000798392 RCV003452903

NM_000251.3(MSH2):c.2291G>A (p.Trp764Ter)

SNV
Germline

Chr2:47478352

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Reviewed By Expert Panel

CA020422

rs_587779143

4 SubmittersRCV000076450 RCV000491006 RCV000694856 RCV003452904

NM_000251.3(MSH2):c.2292G>A (p.Trp764Ter)

SNV
Germline

Chr2:47478353

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA020435

rs_63751105

4 SubmittersRCV000076451 RCV000584494 RCV001206689

NM_000251.3(MSH2):c.2308A>G (p.Ile770Val)

SNV
Germline

Chr2:47478369

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
MSH2-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA020467

rs_63750684

14 SubmittersRCV000076457 RCV000217041 RCV000410216 RCV000586175 RCV000524385 RCV004734632 RCV001804168

NM_000251.3(MSH2):c.2334C>A (p.Cys778Ter)

SNV
Germline

Chr2:47478395

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA020471

rs_63750618

6 SubmittersRCV000076458 RCV000115517 RCV000491112 RCV000663148 RCV001388594

NM_000251.3(MSH2):c.2337G>A (p.Met779Ile)

SNV
Germline

Chr2:47478398

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA020479

rs_41295292

5 SubmittersRCV000160610 RCV000572885 RCV000629729 RCV003997161

NM_000251.3(MSH2):c.2400A>G (p.Leu800=)

SNV
Germline

Chr2:47478461

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
not specified
Hereditary nonpolyposis colorectal neoplasms
Malignant tumor of breast
Condition: not provided
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA020556

rs_201298777

17 SubmittersRCV000160651 RCV000410686 RCV000212619 RCV001083867 RCV001354589 RCV000724817 RCV004537295

NM_000251.3(MSH2):c.2420C>G (p.Thr807Ser)

SNV
Germline

Chr2:47478481

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Muir-Torré syndrome
Mismatch repair cancer syndrome 2
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA020570

rs_41295294

3 SubmittersRCV000573758 RCV000627714 RCV005394323

NM_000251.3(MSH2):c.2422G>T (p.Glu808Ter)

SNV
Germline

Chr2:47478483

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA020574

rs_34986638

2 SubmittersRCV000076471 RCV002453386

NM_000251.3(MSH2):c.2432T>G (p.Leu811Ter)

SNV
Germline

Chr2:47478493

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary nonpolyposis colon cancer

Reviewed By Expert Panel

CA020589

rs_63751018

4 SubmittersRCV000076473 RCV001388595 RCV003452910 RCV002298462

NM_000251.3(MSH2):c.2446C>T (p.Gln816Ter)

SNV
Germline

Chr2:47478507

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Condition: not provided

Reviewed By Expert Panel

CA020600

rs_63749917

5 SubmittersRCV000076476 RCV001015571 RCV001201361 RCV003452911 RCV005600646

NM_000251.3(MSH2):c.244A>T (p.Lys82Ter)

SNV
Germline

Chr2:47408433

Pathogenic

Lynch syndrome

Reviewed By Expert Panel

CA020604

rs_587779145

1 SubmittersRCV000076477

NM_000251.3(MSH2):c.2458+1G>A

SNV
Germline

Chr2:47478520

Likely pathogenic

Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Reviewed By Expert Panel

CA020608

rs_267608010

7 SubmittersRCV000076478 RCV000479442 RCV000491889 RCV000704889 RCV003452912

NM_000251.3(MSH2):c.2459-12A>G

SNV
Germline/somatic

Chr2:47480684

Pathogenic/Likely pathogenic

Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary nonpolyposis colon cancer
Lynch syndrome 1
Muir-Torré syndrome
Mismatch repair cancer syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA020616

rs_267608012

9 SubmittersRCV000076479 RCV000160620 RCV001015604 RCV001854328 RCV003452913 RCV004586538 RCV005025127

NM_000251.3(MSH2):c.2470C>T (p.Gln824Ter)

SNV
Germline

Chr2:47480707

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1

Reviewed By Expert Panel

CA020635

rs_63750623

5 SubmittersRCV000076485 RCV000491152 RCV000816151 RCV001284510 RCV003452914

NM_000251.3(MSH2):c.2503A>C (p.Asn835His)

SNV
Germline

Chr2:47480740

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome 1
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
MSH2-related disorder
Lynch syndrome
Lynch syndrome 1
Mismatch repair cancer syndrome 2
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA020651

rs_41295296

16 SubmittersRCV000115519 RCV000212621 RCV000410916 RCV000656882 RCV001082618 RCV004734633 RCV003997162 RCV005357489

NM_000251.3(MSH2):c.2516A>G (p.His839Arg)

SNV
Germline

Chr2:47480753

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Malignant tumor of breast
Ovarian cancer
not specified

Criteria Provided
Conflicting Classifications

CA020662

rs_63750027

11 SubmittersRCV000076492 RCV000166332 RCV000486446 RCV000765673 RCV000986690 RCV001085048 RCV001354097 RCV003153356 RCV004525868

NM_000251.3(MSH2):c.2517T>A (p.His839Gln)

SNV
Germline

Chr2:47480754

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Malignant tumor of breast
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA020666

rs_267608016

9 SubmittersRCV000216575 RCV000524391 RCV000479296 RCV001357139 RCV003466966 RCV003997163

NM_000251.3(MSH2):c.2533A>G (p.Lys845Glu)

SNV
Germline

Chr2:47480770

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
not specified
Hereditary breast ovarian cancer syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA020689

rs_63750571

11 SubmittersRCV000215108 RCV000524393 RCV000662762 RCV001174808 RCV001030485 RCV003997164

NM_000251.3(MSH2):c.2536C>T (p.Gln846Ter)

SNV
Germline

Chr2:47480773

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Reviewed By Expert Panel

CA020692

rs_63750857

5 SubmittersRCV000076498 RCV000657648 RCV001207810 RCV002453388 RCV003452918

NM_000251.3(MSH2):c.2551C>A (p.Leu851Ile)

SNV
Germline

Chr2:47480788

Conflicting classifications of pathogenicity

Ovarian cancer
Condition: not provided
Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified

Criteria Provided
Conflicting Classifications

CA020709

rs_267608015

10 SubmittersRCV003153357 RCV000236323 RCV000410329 RCV000491427 RCV000552050 RCV002247471

NM_000251.3(MSH2):c.2558A>C (p.Glu853Ala)

SNV
Germline

Chr2:47480795

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Condition: not provided
Lynch syndrome 1
Carcinoma of colon
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA020731

rs_63750797

12 SubmittersRCV000164439 RCV000541354 RCV000484878 RCV000656884 RCV000663223 RCV001356683 RCV003997165

NM_000251.3(MSH2):c.2558A>G (p.Glu853Gly)

SNV
Germline

Chr2:47480795

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA020735

rs_63750797

9 SubmittersRCV000160622 RCV000524394 RCV000583069 RCV001818240 RCV003997166 RCV003492424

NM_000251.3(MSH2):c.2567A>G (p.Tyr856Cys)

SNV
Germline

Chr2:47480804

Conflicting classifications of pathogenicity

Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA020747

rs_587779150

8 SubmittersRCV000662430 RCV000692140 RCV000774582 RCV001818241

NM_000251.3(MSH2):c.2575G>T (p.Glu859Ter)

SNV
Germline

Chr2:47480812

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
MSH2-related disorder
Lynch syndrome 1

Reviewed By Expert Panel

CA020766

rs_63749830

7 SubmittersRCV000076506 RCV001015992 RCV000794539 RCV004724795 RCV003452920

NM_000251.3(MSH2):c.2579C>A (p.Ser860Ter)

SNV
Germline

Chr2:47480816

Pathogenic

Lynch syndrome
Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colon cancer
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA020773

rs_63750849

6 SubmittersRCV000076507 RCV000144616 RCV000491600 RCV002281910 RCV002228186

NM_000251.3(MSH2):c.2581C>T (p.Gln861Ter)

SNV
Germline

Chr2:47480818

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Condition: not provided

Reviewed By Expert Panel

CA020783

rs_63750291

6 SubmittersRCV000076509 RCV000491532 RCV001386002 RCV003452921 RCV004700383

NM_000251.3(MSH2):c.2622T>A (p.Tyr874Ter)

SNV
Germline

Chr2:47480859

Pathogenic

Lynch syndrome
Lynch syndrome 1

Reviewed By Expert Panel

CA020820

rs_587779152

2 SubmittersRCV000076516 RCV003452922

NM_000251.3(MSH2):c.2634+1G>A

SNV
Germline

Chr2:47480872

Likely pathogenic

Lynch syndrome
not specified
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1

Reviewed By Expert Panel

CA020828

rs_267608019

9 SubmittersRCV000076518 RCV000506677 RCV000491073 RCV000688047 RCV002222380 RCV003452923

NM_000251.3(MSH2):c.2634+1G>T

SNV
Germline/somatic

Chr2:47480872

Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch-like syndrome
Lynch syndrome 1

Reviewed By Expert Panel

CA020831

rs_267608019

6 SubmittersRCV000076519 RCV001386003 RCV001016179 RCV001250026 RCV003452924

NM_000251.3(MSH2):c.2634+5G>C

SNV
Germline

Chr2:47480876

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Familial cancer of breast

Reviewed By Expert Panel

CA020838

rs_267608017

8 SubmittersRCV000076521 RCV000491990 RCV001063481 RCV003452925 RCV005364970

NM_000251.3(MSH2):c.2634+5G>T

SNV
Germline

Chr2:47480876

Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA020841

rs_267608017

2 SubmittersRCV001378570 RCV003452926

NM_000251.3(MSH2):c.2634G>A (p.Glu878=)

SNV
Germline

Chr2:47480871

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer
Lynch syndrome 1

Reviewed By Expert Panel

CA020844

rs_63751624

6 SubmittersRCV000076523 RCV000491856 RCV000519129 RCV000791439 RCV001255522 RCV003452927

NM_000251.3(MSH2):c.2635-1G>T

SNV
Germline

Chr2:47482778

Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Reviewed By Expert Panel

CA020850

rs_267608020

4 SubmittersRCV000076525 RCV000629741 RCV002426638 RCV003452929

NM_000251.3(MSH2):c.2635C>T (p.Gln879Ter)

SNV
Germline

Chr2:47482779

Pathogenic

Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA020860

rs_63751469

5 SubmittersRCV000076530 RCV000491055 RCV000521246 RCV000697633

NM_000251.3(MSH2):c.2653C>T (p.Gln885Ter)

SNV
Germline

Chr2:47482797

Pathogenic

Lynch syndrome 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer

Reviewed By Expert Panel

CA020873

rs_63750808

9 SubmittersRCV000076535 RCV000202119 RCV000491409 RCV001386004 RCV003155064

NM_000251.3(MSH2):c.2714C>T (p.Thr905Ile)

SNV
Germline

Chr2:47482858

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA020895

rs_267608022

11 SubmittersRCV000235233 RCV000131745 RCV000781552 RCV003997168 RCV001084144 RCV004734634

NM_000251.3(MSH2):c.2732T>G (p.Leu911Arg)

SNV
Germline

Chr2:47482876

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
not specified
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome
Carcinoma of colon
Breast and/or ovarian cancer
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA020910

rs_41295182

18 SubmittersRCV000129717 RCV000172810 RCV000235177 RCV000524397 RCV000589745 RCV000760996 RCV001354813 RCV003149751 RCV004528276

NM_000251.3(MSH2):c.274C>G (p.Leu92Val)

SNV
Germline

Chr2:47408463

Conflicting classifications of pathogenicity

Mismatch repair cancer syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Condition: not provided
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA020916

rs_587779154

12 SubmittersRCV001196697 RCV000552261 RCV000221964 RCV000412138 RCV001353838 RCV003387753 RCV003997169

NM_000251.3(MSH2):c.277C>T (p.Leu93Phe)

SNV
Germline

Chr2:47408466

Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA020925

rs_63751429

3 SubmittersRCV000076546 RCV002465507 RCV002433581

NM_000251.3(MSH2):c.2790A>G (p.Ile930Met)

SNV
Germline

Chr2:47482934

Conflicting classifications of pathogenicity

Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA020945

rs_587779155

5 SubmittersRCV000411744 RCV000691322 RCV001016615

NM_000251.3(MSH2):c.289C>T (p.Gln97Ter)

SNV
Germline

Chr2:47408478

Pathogenic

Lynch syndrome
Condition: not provided
Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA020970

rs_63750970

10 SubmittersRCV000076556 RCV000160586 RCV000409729 RCV000491888 RCV000699084

NM_000251.3(MSH2):c.28C>T (p.Gln10Ter)

SNV
Germline

Chr2:47403219

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Reviewed By Expert Panel

CA020976

rs_63751099

4 SubmittersRCV000076557 RCV000804938 RCV003452931

NM_000251.3(MSH2):c.293A>G (p.Tyr98Cys)

SNV
Germline

Chr2:47408482

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA020980

rs_63750887

3 SubmittersRCV000693356 RCV004806056 RCV005443016

NM_000251.3(MSH2):c.301G>T (p.Glu101Ter)

SNV
Germline

Chr2:47408490

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Reviewed By Expert Panel

CA020992

rs_63750318

5 SubmittersRCV000076561 RCV000569740 RCV001389138 RCV003452932

NM_000251.3(MSH2):c.308A>G (p.Tyr103Cys)

SNV
Germline

Chr2:47408497

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA021001

rs_63751173

9 SubmittersRCV000491016 RCV000662774 RCV000478164 RCV001232251 RCV003997171

NM_000251.3(MSH2):c.319G>C (p.Ala107Pro)

SNV
Germline

Chr2:47408508

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA021012

rs_587779158

6 SubmittersRCV000131126 RCV000811372 RCV003317079 RCV003466967 RCV003997172

NM_000251.3(MSH2):c.363T>G (p.Tyr121Ter)

SNV
Germline

Chr2:47408552

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Reviewed By Expert Panel

CA021049

rs_63750458

6 SubmittersRCV000076572 RCV000580738 RCV001070054 RCV003452935

NM_000251.3(MSH2):c.366+1G>T

SNV
Germline

Chr2:47408556

Likely pathogenic

Lynch syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Reviewed By Expert Panel

CA021052

rs_267607924

6 SubmittersRCV000076573 RCV000759832 RCV001059850 RCV002453390 RCV003452936

NM_000251.3(MSH2):c.367-1G>A

SNV
Germline

Chr2:47410093

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Reviewed By Expert Panel

CA021069

rs_267607925

4 SubmittersRCV000076577 RCV000491499 RCV001377879 RCV003452937

NM_000251.3(MSH2):c.425C>G (p.Ser142Ter)

SNV
Germline

Chr2:47410152

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer
Lynch syndrome 1
Lynch syndrome 1
Muir-Torré syndrome
Mismatch repair cancer syndrome 2

Reviewed By Expert Panel

CA021151

rs_63750910

8 SubmittersRCV000076598 RCV000519167 RCV001022162 RCV001071576 RCV001797622 RCV003452940 RCV005394327

NM_000251.3(MSH2):c.435T>G (p.Ile145Met)

SNV
Germline

Chr2:47410162

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Colorectal cancer, non-polyposis
not specified
Condition: not provided
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Breast and/or ovarian cancer
MSH2-related disorder
Breast carcinoma
Carcinoma of colon
Lynch syndrome
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA021158

rs_63750124

26 SubmittersRCV000115532 RCV000148628 RCV000212585 RCV000588226 RCV000764421 RCV001085983 RCV000662480 RCV001798267 RCV004528278 RCV001262752 RCV001358588 RCV004806057 RCV005234973

NM_000251.3(MSH2):c.446G>A (p.Gly149Asp)

SNV
Germline

Chr2:47410173

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Carcinoma of colon
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA021170

rs_587779162

5 SubmittersRCV000821319 RCV001022532 RCV001358250 RCV003452941

NM_000251.3(MSH2):c.472C>T (p.Gln158Ter)

SNV
Germline

Chr2:47410199

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colon cancer
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Reviewed By Expert Panel

CA021185

rs_63751226

4 SubmittersRCV000076605 RCV001192612 RCV002336225 RCV003452942

NM_000251.3(MSH2):c.478C>T (p.Gln160Ter)

SNV
Germline/somatic

Chr2:47410205

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch-like syndrome
Hereditary nonpolyposis colon cancer
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Reviewed By Expert Panel

CA021192

rs_63751426

6 SubmittersRCV000076606 RCV000547313 RCV001250038 RCV001532993 RCV002336226 RCV003452943

NM_000251.3(MSH2):c.482T>A (p.Val161Asp)

SNV
Germline

Chr2:47410209

Pathogenic

Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA021196

rs_63750126

3 SubmittersRCV000076607 RCV000490837

NM_000251.3(MSH2):c.484G>A (p.Gly162Arg)

SNV
Germline

Chr2:47410211

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Condition: not provided
Hereditary nonpolyposis colon cancer
Muir-Torré syndrome

Reviewed By Expert Panel

CA021199

rs_63750624

13 SubmittersRCV000076608 RCV000491163 RCV000524412 RCV000662882 RCV000985811 RCV001194033 RCV004546430

NM_000251.3(MSH2):c.488T>A (p.Val163Asp)

SNV
Germline

Chr2:47410215

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1

Reviewed By Expert Panel

CA021206

rs_63750214

6 SubmittersRCV000076610 RCV000492044 RCV003593902 RCV004998195 RCV004566934

NM_000251.3(MSH2):c.488T>G (p.Val163Gly)

SNV
Germline

Chr2:47410215

Pathogenic

Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA021209

rs_63750214

2 SubmittersRCV000076611 RCV001183049

NM_000251.3(MSH2):c.490G>A (p.Gly164Arg)

SNV
Germline/somatic

Chr2:47410217

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colon cancer
Lynch-like syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1

Reviewed By Expert Panel

CA021212

rs_63750582

8 SubmittersRCV000076612 RCV000491974 RCV001293544 RCV001249918 RCV001390798 RCV004760368 RCV003452944

NM_000251.3(MSH2):c.490G>T (p.Gly164Trp)

SNV
Germline

Chr2:47410217

Pathogenic/Likely pathogenic

Familial colorectal cancer
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA021215

rs_63750582

6 SubmittersRCV000168725 RCV000491255 RCV000767200 RCV001060501 RCV003444198

NM_000251.3(MSH2):c.493T>G (p.Tyr165Asp)

SNV
Germline

Chr2:47410220

Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA021222

rs_587779163

3 SubmittersRCV000076614 RCV000630010 RCV003584547

NM_000251.3(MSH2):c.508C>T (p.Gln170Ter)

SNV
Germline

Chr2:47410235

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Ovarian neoplasm
Lynch syndrome 1

Reviewed By Expert Panel

CA021248

rs_63750843

8 SubmittersRCV000076621 RCV000236121 RCV000491287 RCV000791416 RCV000785436 RCV003452945

NM_000251.3(MSH2):c.512G>A (p.Arg171Lys)

SNV
Germline

Chr2:47410239

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Condition: not provided
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA021254

rs_63750902

7 SubmittersRCV000570883 RCV000627693 RCV003997176 RCV003231115 RCV001137124

NM_000251.3(MSH2):c.518T>C (p.Leu173Pro)

SNV
Germline/somatic

Chr2:47410245

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Carcinoma of colon
Lynch syndrome
Hereditary nonpolyposis colon cancer
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA021269

rs_63750070

6 SubmittersRCV001854331 RCV001353990 RCV003997177 RCV002290960 RCV002336228

NM_000251.3(MSH2):c.518T>G (p.Leu173Arg)

SNV
Germline

Chr2:47410245

Pathogenic

Lynch syndrome 1
Lynch syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA021275

rs_63750070

4 SubmittersRCV000076626 RCV000778170 RCV005251058

NM_000251.3(MSH2):c.524T>C (p.Leu175Pro)

SNV
Germline

Chr2:47410251

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1
Lynch syndrome
Hereditary nonpolyposis colon cancer

Criteria Provided
Conflicting Classifications

CA021302

rs_63751291

8 SubmittersRCV000697263 RCV001184535 RCV001800375 RCV003452948 RCV004806058 RCV005237509

NM_000251.3(MSH2):c.529G>T (p.Glu177Ter)

SNV
Germline

Chr2:47410256

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA021325

rs_63750382

3 SubmittersRCV000076632 RCV002345386 RCV005089521

NM_000251.3(MSH2):c.547C>T (p.Gln183Ter)

SNV
Germline

Chr2:47410274

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Condition: not provided

Reviewed By Expert Panel

CA021358

rs_63750037

5 SubmittersRCV000076634 RCV000561236 RCV003452950 RCV001781399

NM_000251.3(MSH2):c.557A>G (p.Asn186Ser)

SNV
Germline

Chr2:47410284

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome 1
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Breast and/or ovarian cancer
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA021391

rs_151129360

16 SubmittersRCV000130716 RCV000202264 RCV000411418 RCV000587046 RCV001081828 RCV001798268 RCV005357494

NM_000251.3(MSH2):c.560T>C (p.Leu187Pro)

SNV
Germline

Chr2:47410287

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Carcinoma of colon
Lynch syndrome 1

Reviewed By Expert Panel

CA021405

rs_63751444

6 SubmittersRCV000076638 RCV000581973 RCV001240116 RCV001353422 RCV003466968

NM_000251.3(MSH2):c.560T>G (p.Leu187Arg)

SNV
Germline

Chr2:47410287

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1

Reviewed By Expert Panel

CA021414

rs_63751444

5 SubmittersRCV000076639 RCV000822250 RCV002345387 RCV005229883 RCV003452951

NM_000251.3(MSH2):c.577C>T (p.Gln193Ter)

SNV
Germline

Chr2:47410304

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1

Reviewed By Expert Panel

CA021466

rs_63751326

6 SubmittersRCV000076645 RCV000629870 RCV000490948 RCV001284655 RCV003452952

NM_000251.3(MSH2):c.592G>A (p.Glu198Lys)

SNV
Germline

Chr2:47410319

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA021501

rs_587779166

4 SubmittersRCV003311405 RCV003455794 RCV005102822

NM_000251.3(MSH2):c.595T>C (p.Cys199Arg)

SNV
Germline

Chr2:47410322

Pathogenic

Lynch syndrome
Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA021524

rs_63751110

5 SubmittersRCV000076650 RCV003315405 RCV004019518 RCV004808575 RCV001854333

NM_000251.3(MSH2):c.596G>A (p.Cys199Tyr)

SNV
Germline

Chr2:47410323

Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA021530

rs_63751136

4 SubmittersRCV000160619 RCV002354269 RCV003452954 RCV005089522

NM_000251.3(MSH2):c.599T>A (p.Val200Asp)

SNV
Germline

Chr2:47410326

Pathogenic

Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA021536

rs_587779167

3 SubmittersRCV000076652 RCV000811653 RCV002354270

NM_000251.3(MSH2):c.610G>T (p.Gly204Ter)

SNV
Germline

Chr2:47410337

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Reviewed By Expert Panel

CA021582

rs_63750574

5 SubmittersRCV000076653 RCV000815594 RCV002307390 RCV003162499 RCV003452955

NM_000251.3(MSH2):c.613G>T (p.Glu205Ter)

SNV
Germline

Chr2:47410340

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA021588

rs_63749984

3 SubmittersRCV000076654 RCV001225117 RCV002354271

NM_000251.3(MSH2):c.643C>T (p.Gln215Ter)

SNV
Germline

Chr2:47410370

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Mismatch repair cancer syndrome 2

Reviewed By Expert Panel

CA021638

rs_63751274

7 SubmittersRCV000076658 RCV000657646 RCV001854334 RCV002362713 RCV002463636 RCV003150809

NM_000251.3(MSH2):c.645+1G>A

SNV
Germline

Chr2:47410373

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA021643

rs_267607689

5 SubmittersRCV000076659 RCV000491616 RCV000985815 RCV001854335

NM_000251.3(MSH2):c.645+1G>T

SNV
Germline

Chr2:47410373

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
MSH2-related disorder

Reviewed By Expert Panel

CA021649

rs_267607689

5 SubmittersRCV000076660 RCV000220374 RCV002247472 RCV001854336 RCV004797778

NM_000251.3(MSH2):c.645+3A>G

SNV
Germline

Chr2:47410375

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Lynch syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA021655

rs_587779168

10 SubmittersRCV000419965 RCV000491694 RCV000627695 RCV003997178 RCV004791261 RCV003477472

NM_000251.3(MSH2):c.646-2A>G

SNV
Germline

Chr2:47412412

Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Reviewed By Expert Panel

CA021672

rs_587779169

7 SubmittersRCV000076665 RCV000817666 RCV001800376 RCV002362714 RCV003452957

NM_000251.3(MSH2):c.646-3T>G

SNV
Germline

Chr2:47412411

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA021679

rs_267607930

4 SubmittersRCV000076666 RCV000772131 RCV001854337

NM_000251.3(MSH2):c.646A>G (p.Ile216Val)

SNV
Germline

Chr2:47412414

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA021692

rs_63749936

5 SubmittersRCV000216132 RCV000541467 RCV003159097 RCV003997179

NM_000251.3(MSH2):c.652C>T (p.Gln218Ter)

SNV
Germline

Chr2:47412420

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colon cancer
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Reviewed By Expert Panel

CA021710

rs_587779170

6 SubmittersRCV000076677 RCV001264589 RCV001025372 RCV001386603 RCV003452958

NM_000251.3(MSH2):c.672C>G (p.Ile224Met)

SNV
Germline

Chr2:47412440

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA021724

rs_587779171

5 SubmittersRCV000569759 RCV000662390 RCV000684803

NM_000251.3(MSH2):c.685A>T (p.Lys229Ter)

SNV
Germline

Chr2:47412453

Pathogenic

Lynch syndrome
Condition: not provided

Reviewed By Expert Panel

CA021947

rs_587779173

2 SubmittersRCV000076680 RCV004998196

NM_000251.3(MSH2):c.715C>T (p.Gln239Ter)

SNV
Germline

Chr2:47412483

Pathogenic

Lynch syndrome
Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided

Reviewed By Expert Panel

CA022086

rs_63750488

7 SubmittersRCV000076689 RCV000410998 RCV000561407 RCV000629942 RCV001358384

NM_000251.3(MSH2):c.728G>A (p.Arg243Gln)

SNV
Germline

Chr2:47412496

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
not specified
Malignant tumor of breast

Criteria Provided
Conflicting Classifications

CA022108

rs_63751455

13 SubmittersRCV000131412 RCV000411200 RCV000524419 RCV000479306 RCV000781566 RCV001357533

NM_000251.3(MSH2):c.736A>T (p.Lys246Ter)

SNV
Germline

Chr2:47412504

Pathogenic

Lynch syndrome

Reviewed By Expert Panel

CA022126

rs_63750881

1 SubmittersRCV000076696

NM_000251.3(MSH2):c.742A>G (p.Lys248Glu)

SNV
Germline

Chr2:47412510

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA022149

rs_587779178

10 SubmittersRCV000235646 RCV000491084 RCV000630103 RCV002265598 RCV003389041 RCV003997180

NM_000251.3(MSH2):c.754C>T (p.Gln252Ter)

SNV
Germline

Chr2:47412522

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Reviewed By Expert Panel

CA022185

rs_63750347

4 SubmittersRCV000076700 RCV000491026 RCV000808434 RCV003452965

NM_000251.3(MSH2):c.782T>C (p.Met261Thr)

SNV
Germline

Chr2:47412550

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA022248

rs_63749969

5 SubmittersRCV000539072 RCV001582562 RCV002408599 RCV003997182

NM_000251.3(MSH2):c.792+1G>A

SNV
Germline

Chr2:47412561

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1

Reviewed By Expert Panel

CA022273

rs_267607934

6 SubmittersRCV000076709 RCV001233639 RCV001026957 RCV001588899 RCV003452966

NM_000251.3(MSH2):c.792+5A>G

SNV
Germline

Chr2:47412565

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
not specified
Malignant tumor of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA022283

rs_267607935

11 SubmittersRCV000129148 RCV000410638 RCV000524421 RCV000440249 RCV001355416 RCV003477473

NM_000251.3(MSH2):c.793-2A>C

SNV
Germline/somatic

Chr2:47414267

Likely pathogenic

Lynch syndrome

Reviewed By Expert Panel

CA022304

rs_267607933

2 SubmittersRCV000076714

NM_000251.3(MSH2):c.806C>T (p.Ser269Leu)

SNV
Germline

Chr2:47414282

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Muir-Torré syndrome
Mismatch repair cancer syndrome 2
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA022333

rs_63750058

3 SubmittersRCV000822527 RCV002415568 RCV005357496

NM_000251.3(MSH2):c.82G>T (p.Glu28Ter)

SNV
Germline

Chr2:47403273

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Reviewed By Expert Panel

CA022387

rs_63751246

3 SubmittersRCV000076730 RCV000491146 RCV003452968

NM_000251.3(MSH2):c.842C>A (p.Ser281Ter)

SNV
Germline

Chr2:47414318

Pathogenic

Lynch syndrome

Reviewed By Expert Panel

CA022416

rs_63749991

1 SubmittersRCV000076734

NM_000251.3(MSH2):c.859G>T (p.Gly287Ter)

SNV
Germline

Chr2:47414335

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA022437

rs_63750276

5 SubmittersRCV000076737 RCV000115545 RCV001053401 RCV003452969 RCV002444540

NM_000251.3(MSH2):c.862C>T (p.Gln288Ter)

SNV
Germline

Chr2:47414338

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Muir-Torré syndrome
Mismatch repair cancer syndrome 2
Lynch syndrome 1

Reviewed By Expert Panel

CA022450

rs_63750097

9 SubmittersRCV000076738 RCV000528830 RCV000484173 RCV001183048 RCV003452970 RCV005394328

NM_000251.3(MSH2):c.868G>T (p.Glu290Ter)

SNV
Germline

Chr2:47414344

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer
Lynch syndrome 1

Reviewed By Expert Panel

CA022458

rs_587779190

7 SubmittersRCV000076740 RCV000165329 RCV000763488 RCV001854340 RCV004689446 RCV003452971

NM_000251.3(MSH2):c.892C>T (p.Gln298Ter)

SNV
Germline

Chr2:47414368

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Sigmoid colon cancer
Carcinoma of colon
Lynch syndrome 1

Reviewed By Expert Panel

CA022486

rs_63750934

9 SubmittersRCV000076744 RCV000478579 RCV000629714 RCV000490887 RCV000677887 RCV001357211 RCV003447488

NM_000251.3(MSH2):c.901A>T (p.Lys301Ter)

SNV
Germline

Chr2:47414377

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Condition: not provided

Reviewed By Expert Panel

CA022518

rs_63749915

6 SubmittersRCV000076746 RCV001854341 RCV003452974 RCV002371917 RCV003144124

NM_000251.3(MSH2):c.905T>A (p.Leu302Ter)

SNV
Germline

Chr2:47414381

Pathogenic

Lynch syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA022523

rs_63749914

5 SubmittersRCV000076747 RCV000412047 RCV001224865 RCV002444542

NM_000251.3(MSH2):c.913G>A (p.Ala305Thr)

SNV
Germline

Chr2:47414389

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome
Colorectal cancer, non-polyposis
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
not specified
MSH2-related disorder
Breast and/or ovarian cancer
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA022539

rs_63751454

15 SubmittersRCV000115547 RCV000076748 RCV000148633 RCV000656876 RCV001084038 RCV001193245 RCV004542749 RCV003492427 RCV005246634

NM_000251.3(MSH2):c.929T>C (p.Leu310Pro)

SNV
Germline

Chr2:47414405

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Muir-Torré syndrome
Mismatch repair cancer syndrome 2
Lynch syndrome 1

Reviewed By Expert Panel

CA022549

rs_63750640

4 SubmittersRCV000076750 RCV000491370 RCV001052685 RCV005025128

NM_000251.3(MSH2):c.929T>G (p.Leu310Arg)

SNV
Germline

Chr2:47414405

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA022554

rs_63750640

3 SubmittersRCV000076751 RCV000567639 RCV000524912

NM_000251.3(MSH2):c.942+1G>T

SNV
Germline

Chr2:47414419

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1

Reviewed By Expert Panel

CA022570

rs_587779193

7 SubmittersRCV000076752 RCV000491583 RCV000816442 RCV003311677 RCV003452976

NM_000251.3(MSH2):c.942+2T>G

SNV
Germline

Chr2:47414420

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1

Reviewed By Expert Panel

CA022580

rs_587779195

6 SubmittersRCV000076754 RCV000491479 RCV001050513 RCV001723651 RCV003452977

NM_000251.3(MSH2):c.942G>A (p.Gln314=)

SNV
Germline

Chr2:47414418

Pathogenic

Lynch syndrome
Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA022591

rs_587779197

4 SubmittersRCV000076756 RCV003452978 RCV002444543

NM_000251.3(MSH2):c.943-1G>A

SNV
Germline

Chr2:47416295

Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Reviewed By Expert Panel

CA022598

rs_12476364

4 SubmittersRCV000076757 RCV000532450 RCV002371918 RCV003452979

NM_000251.3(MSH2):c.943-1G>C

SNV
Germline

Chr2:47416295

Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1

Reviewed By Expert Panel

CA022602

rs_12476364

7 SubmittersRCV000076758 RCV000696831 RCV000491758 RCV001531920 RCV002288573

NM_000251.3(MSH2):c.943-2A>G

SNV
Germline

Chr2:47416294

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary nonpolyposis colon cancer
Carcinoma of colon

Reviewed By Expert Panel

CA022606

rs_587779198

8 SubmittersRCV000076759 RCV000491601 RCV000544929 RCV000663253 RCV001280659 RCV001353928

NM_000251.3(MSH2):c.968C>G (p.Ser323Cys)

SNV
Germline

Chr2:47416321

Conflicting classifications of pathogenicity

Colorectal cancer, non-polyposis
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA022662

rs_63750732

8 SubmittersRCV000148634 RCV000222150 RCV000412467 RCV000480555 RCV000524426 RCV003997184

NM_000251.3(MSH2):c.970C>T (p.Gln324Ter)

SNV
Germline

Chr2:47416323

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Reviewed By Expert Panel

CA022678

rs_63750502

7 SubmittersRCV000076766 RCV000201985 RCV001019659 RCV001050003 RCV003452980

NM_000251.3(MSH2):c.97A>C (p.Thr33Pro)

SNV
Germline

Chr2:47403288

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Mismatch repair cancer syndrome 2
Muir-Torré syndrome
Lynch syndrome
Malignant tumor of breast

Criteria Provided
Conflicting Classifications

CA022692

rs_63751107

13 SubmittersRCV000129083 RCV000236043 RCV000656871 RCV000662483 RCV000627734 RCV002483125 RCV003997185 RCV001354855

NM_000251.3(MSH2):c.97A>G (p.Thr33Ala)

SNV
Germline

Chr2:47403288

Conflicting classifications of pathogenicity

Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Malignant glioma
not specified

Criteria Provided
Conflicting Classifications

CA022696

rs_63751107

9 SubmittersRCV000076773 RCV000480593 RCV000565059 RCV000684814 RCV004776271 RCV001818242

NM_000251.3(MSH2):c.989T>C (p.Leu330Pro)

SNV
Germline

Chr2:47416342

Pathogenic

Lynch syndrome
Lynch syndrome 1
Muir-Torré syndrome
Mismatch repair cancer syndrome 2
Colonic diverticula
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA022706

rs_63750630

4 SubmittersRCV000076775 RCV005357497 RCV001554291 RCV003593904

NM_000251.3(MSH2):c.997T>C (p.Cys333Arg)

SNV
Germline

Chr2:47416350

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA022717

rs_63750468

5 SubmittersRCV000076777 RCV000491354 RCV002280101 RCV003452982

NM_000251.3(MSH2):c.998G>A (p.Cys333Tyr)

SNV
Germline

Chr2:47416351

Pathogenic

Lynch syndrome 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Mismatch repair cancer syndrome 1
Hereditary nonpolyposis colon cancer

Reviewed By Expert Panel

CA022722

rs_63750828

16 SubmittersRCV000076778 RCV000160579 RCV000216069 RCV000630153 RCV001535593 RCV002281913

NM_000535.7(PMS2):c.1144+2T>A

SNV
Germline

Chr7:5989798

Likely pathogenic

Lynch syndrome 4
Lynch syndrome

Reviewed By Expert Panel

CA009239

rs_267608158

3 SubmittersRCV000009822 RCV000076796

NM_000535.7(PMS2):c.1145-5C>T

SNV
Germline

Chr7:5987625

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA009257

rs_267608157

4 SubmittersRCV001414589 RCV001017451 RCV005420542

NM_000535.7(PMS2):c.1261C>T (p.Arg421Ter)

SNV
Germline

Chr7:5987504

Pathogenic

Lynch syndrome
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Hereditary nonpolyposis colon cancer
Endometrial carcinoma
Lynch syndrome 4
Mismatch repair cancer syndrome 4

Reviewed By Expert Panel

CA009431

rs_587778617

17 SubmittersRCV000076804 RCV000121843 RCV000223405 RCV000219846 RCV000627692 RCV000786880 RCV001255553 RCV001353689 RCV005042190

NM_000535.7(PMS2):c.137G>A (p.Ser46Asn)

SNV
Germline

Chr7:6005918

Pathogenic/Likely pathogenic

Endometrial carcinoma
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA009592

rs_121434629

9 SubmittersRCV000076806 RCV000524431 RCV000584471 RCV001185073 RCV001798271 RCV003452984

NM_000535.7(PMS2):c.1463C>T (p.Ala488Val)

SNV
Germline

Chr7:5987302

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA009709

rs_587779328

8 SubmittersRCV000076811 RCV000221900 RCV000657046 RCV000684795

NM_000535.7(PMS2):c.1510G>C (p.Glu504Gln)

SNV
Germline

Chr7:5987255

Conflicting classifications of pathogenicity

Lynch syndrome 4
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Condition: not provided
Malignant tumor of breast
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA009792

rs_368516768

12 SubmittersRCV003460718 RCV000162805 RCV000524435 RCV000780617 RCV000483703 RCV001354515 RCV003997187

NM_000535.7(PMS2):c.163+2T>C

SNV
Germline

Chr7:6005890

Likely pathogenic

Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA009959

rs_587779329

4 SubmittersRCV000076817 RCV001723652 RCV002399465

NM_000535.7(PMS2):c.164-2A>G

SNV
Germline

Chr7:6004060

Likely pathogenic

Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA009971

rs_587779324

4 SubmittersRCV000076818 RCV003320559 RCV005401324

NM_000535.7(PMS2):c.1738A>T (p.Lys580Ter)

SNV
Germline

Chr7:5987027

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary nonpolyposis colon cancer
Lynch syndrome 4

Reviewed By Expert Panel

CA010207

rs_267608169

10 SubmittersRCV000076824 RCV000129628 RCV000524446 RCV000260402 RCV002307391 RCV003452986

NM_000535.7(PMS2):c.1753C>A (p.Leu585Ile)

SNV
Germline

Chr7:5987012

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Lynch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA010216

rs_63750947

13 SubmittersRCV004595912 RCV000216706 RCV000524448 RCV005600647 RCV003997188 RCV001529737

NM_000535.7(PMS2):c.1840A>T (p.Lys614Ter)

SNV
Germline

Chr7:5986925

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Hereditary nonpolyposis colon cancer

Reviewed By Expert Panel

CA010345

rs_63750490

15 SubmittersRCV000076831 RCV000164595 RCV000216236 RCV000540895 RCV001258087 RCV001280569

NM_000535.7(PMS2):c.1927C>T (p.Gln643Ter)

SNV
Germline

Chr7:5986838

Pathogenic

Lynch syndrome
Mismatch repair cancer syndrome 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer
Lynch syndrome 4

Reviewed By Expert Panel

CA010460

rs_63751422

13 SubmittersRCV000076835 RCV000148733 RCV000223612 RCV000164116 RCV000524452 RCV003323387 RCV003452988

NM_000535.7(PMS2):c.1939A>T (p.Lys647Ter)

SNV
Germline

Chr7:5986826

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Hereditary nonpolyposis colon cancer
Mismatch repair cancer syndrome 4
Lynch syndrome 4
Mismatch repair cancer syndrome 4
Lynch syndrome 1

Reviewed By Expert Panel

CA010519

rs_201451115

25 SubmittersRCV000076836 RCV000128864 RCV000414304 RCV000507921 RCV000627727 RCV000709754 RCV002228187 RCV002288575 RCV005394329 RCV005246635

NM_000535.7(PMS2):c.1A>G (p.Met1Val)

SNV
Germline

Chr7:6009019

Likely pathogenic

Lynch syndrome
Lynch syndrome 1
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colon cancer
Mismatch repair cancer syndrome 1
Mismatch repair cancer syndrome 4
PMS2-related disorder

Reviewed By Expert Panel

CA010642

rs_587779333

22 SubmittersRCV000076838 RCV000144649 RCV000160894 RCV000524456 RCV000410400 RCV000564071 RCV001280543 RCV001293980 RCV001523838 RCV003982873

NM_000535.7(PMS2):c.2007-1G>A

SNV
Germline

Chr7:5982992

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA010684

rs_267608170

4 SubmittersRCV000076841 RCV002415570 RCV003452989 RCV005089524

NM_000535.7(PMS2):c.2113G>A (p.Glu705Lys)

SNV
Germline

Chr7:5982885

Pathogenic/Likely pathogenic

Lynch syndrome
Lynch syndrome 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Mismatch repair cancer syndrome 4
Hereditary nonpolyposis colon cancer
Breast and/or ovarian cancer
Lynch syndrome 4
PMS2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA010854

rs_267608161

22 SubmittersRCV000076843 RCV000144654 RCV000115674 RCV000223542 RCV000524457 RCV005394330 RCV002298464 RCV003149756 RCV003452990 RCV004742243

NM_000535.7(PMS2):c.2174+1G>A

SNV
Germline

Chr7:5982823

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Lynch syndrome
Condition: not provided
PMS2-related disorder
Hereditary nonpolyposis colorectal neoplasms
Breast and/or ovarian cancer
Mismatch repair cancer syndrome 4
Lynch syndrome 4
Mismatch repair cancer syndrome 4

Reviewed By Expert Panel

CA010965

rs_267608172

18 SubmittersRCV000218995 RCV000409361 RCV000076844 RCV000115677 RCV004742244 RCV000539044 RCV003149757 RCV005031560 RCV005357499

NM_000535.7(PMS2):c.2249G>A (p.Gly750Asp)

SNV
Germline

Chr7:5978622

Conflicting classifications of pathogenicity

Endometrial carcinoma
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer
PMS2-related disorder
Lynch syndrome 4
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA011133

rs_587779337

14 SubmittersRCV000076849 RCV000115679 RCV000212868 RCV000524463 RCV002271400 RCV003398663 RCV001253062 RCV004764762

NM_000535.7(PMS2):c.2395C>T (p.Arg799Trp)

SNV
Germline

Chr7:5977638

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 4
Mismatch repair cancer syndrome 1
Ovarian cancer
Lynch syndrome
Hereditary cancer
PMS2-related disorder
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA011412

rs_149202766

14 SubmittersRCV000162455 RCV000215298 RCV000524466 RCV000590372 RCV000764720 RCV003153358 RCV005357500 RCV005234974 RCV004742245 RCV005420543

NM_000535.7(PMS2):c.2444C>T (p.Ser815Leu)

SNV
Germline

Chr7:5977589

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Mismatch repair cancer syndrome 1
Lynch syndrome 4
Hereditary nonpolyposis colon cancer
Lynch syndrome 4

Reviewed By Expert Panel

CA011500

rs_587779338

15 SubmittersRCV000076859 RCV000130249 RCV000485694 RCV000525929 RCV000764719 RCV001193971 RCV003452993

NM_000535.7(PMS2):c.251-2A>G

SNV
Germline

Chr7:6003794

Likely pathogenic

Lynch syndrome

Reviewed By Expert Panel

CA011625

rs_587779340

1 SubmittersRCV000076861

NM_000535.7(PMS2):c.614A>C (p.Gln205Pro)

SNV
Germline

Chr7:5999199

Conflicting classifications of pathogenicity

Breast and/or ovarian cancer
Hereditary nonpolyposis colon cancer
Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Carcinoma of colon

Criteria Provided
Conflicting Classifications

CA012420

rs_587779342

17 SubmittersRCV003149758 RCV004782047 RCV000164809 RCV000409570 RCV000485945 RCV000524477 RCV003997191 RCV001357098

NM_000535.7(PMS2):c.697C>T (p.Gln233Ter)

SNV
Germline

Chr7:5999116

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Mismatch repair cancer syndrome 4
Hereditary nonpolyposis colon cancer

Reviewed By Expert Panel

CA012564

rs_587779343

17 SubmittersRCV000076881 RCV000115701 RCV000212848 RCV000524479 RCV001799617 RCV005357502 RCV005237510

NM_000535.7(PMS2):c.703C>T (p.Gln235Ter)

SNV
Germline

Chr7:5999110

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Hereditary nonpolyposis colon cancer

Reviewed By Expert Panel

CA012575

rs_63750261

7 SubmittersRCV000076882 RCV000132294 RCV001762199 RCV001854344 RCV002288576 RCV001778704

NM_000535.7(PMS2):c.705+1G>T

SNV
Germline

Chr7:5999107

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4

Reviewed By Expert Panel

CA012596

rs_267608147

4 SubmittersRCV000076883 RCV001025973 RCV001380258 RCV003452995

NM_000535.7(PMS2):c.804-10T>G

SNV
Germline

Chr7:5995643

Likely pathogenic

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Hereditary nonpolyposis colon cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA012877

rs_267608151

5 SubmittersRCV000589847 RCV000630112 RCV002408601 RCV003452997 RCV005237511

NM_000535.7(PMS2):c.903G>T (p.Lys301Asn)

SNV
Germline

Chr7:5995534

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Lynch syndrome 1
Hereditary breast ovarian cancer syndrome
Inherited MMR deficiency (Lynch syndrome)

Reviewed By Expert Panel

CA013203

rs_267608153

15 SubmittersRCV000076896 RCV000215563 RCV000255696 RCV000524483 RCV000778110 RCV001804828 RCV004689447 RCV005237512

NM_000535.7(PMS2):c.943C>T (p.Arg315Ter)

SNV
Germline

Chr7:5992018

Pathogenic

Lynch syndrome
Colorectal cancer, non-polyposis
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Malignant tumor of breast
Mismatch repair cancer syndrome 1
Lynch syndrome 4
Gastric cancer
Lynch syndrome 4
Mismatch repair cancer syndrome 4

Reviewed By Expert Panel

CA013335

rs_200640585

20 SubmittersRCV000076901 RCV000148734 RCV000115711 RCV000212858 RCV000524484 RCV000576503 RCV001354630 RCV000763587 RCV003162501 RCV005042191

NM_000535.7(PMS2):c.949C>T (p.Gln317Ter)

SNV
Germline

Chr7:5992012

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer
Lynch syndrome 4
Mismatch repair cancer syndrome 4
Condition: not provided
Lynch syndrome 4

Reviewed By Expert Panel

CA013352

rs_143277125

9 SubmittersRCV000570620 RCV000076902 RCV000686600 RCV005431463 RCV005394331 RCV001536747 RCV003325181

NM_000535.7(PMS2):c.989-2A>G

SNV
Germline

Chr7:5989957

Likely pathogenic

Lynch syndrome 4
Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Mismatch repair cancer syndrome 4
Condition: not provided

Reviewed By Expert Panel

CA013438

rs_587779347

11 SubmittersRCV003466969 RCV000076905 RCV000132347 RCV000531809 RCV001523837 RCV001556367

NM_000179.3(MSH6):c.3203G>A (p.Arg1068Gln)

SNV
Germline

Chr2:47803450

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome
not specified
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Malignant tumor of breast
MSH6-related disorder
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA011934

rs_398123230

17 SubmittersRCV000131252 RCV000168135 RCV000217757 RCV000679234 RCV001083147 RCV001356423 RCV004739339 RCV005420544

NM_000179.3(MSH6):c.3477C>A (p.Tyr1159Ter)

SNV
Germline/somatic

Chr2:47804948

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch-like syndrome
Carcinoma of colon
Hereditary nonpolyposis colon cancer
Lynch syndrome 5
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA013011

rs_398123231

12 SubmittersRCV000078315 RCV000456684 RCV000491158 RCV001249964 RCV001354656 RCV002265599 RCV003453005 RCV002272057 RCV003466970

NM_000535.7(PMS2):c.714C>A (p.Ser238Arg)

SNV
Germline

Chr7:5997415

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA012654

rs_151251082

14 SubmittersRCV000129639 RCV000079111 RCV000229467 RCV000662416 RCV000708994

NM_000540.3(RYR1):c.14939C>T (p.Thr4980Met)

SNV
Germline

Chr19:38586161

Conflicting classifications of pathogenicity

Condition: not provided
RYR1-related disorder
not specified
RYR1-related myopathy
Centronuclear myopathy
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome

Criteria Provided
Conflicting Classifications

CA024280

rs_398123471

7 SubmittersRCV000079134 RCV000801203 RCV004700390 RCV005250014 RCV004795343 RCV005025133

NM_000540.3(RYR1):c.6359T>C (p.Met2120Thr)

SNV
Germline

Chr19:38494436

Conflicting classifications of pathogenicity

Condition: not provided
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
Congenital myopathy with fiber type disproportion
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA024569

rs_398123473

5 SubmittersRCV000079157 RCV002490686 RCV002515759 RCV003997199

NM_001378615.1(CC2D2A):c.2804G>A (p.Arg935Gln)

SNV
Germline

Chr4:15557482

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
not specified
COACH syndrome 1
Joubert syndrome 9
Meckel syndrome, type 6
Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome 9
Meckel syndrome, type 6
Condition: not provided
CC2D2A-related disorder

Criteria Provided
Conflicting Classifications

CA150861

rs_187003641

8 SubmittersRCV000114170 RCV000176277 RCV000515156 RCV000636974 RCV001146035 RCV001146036 RCV001719852 RCV004529912

NM_001378615.1(CC2D2A):c.394C>T (p.Arg132Ter)

SNV
Germline

Chr4:15502879

Pathogenic/Likely pathogenic

Meckel-Gruber syndrome
Condition: not provided
Retinal dystrophy
Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 6
Joubert syndrome 9
Retinitis pigmentosa 93
Joubert syndrome 9
COACH syndrome 2
Meckel syndrome, type 6

Criteria Provided
Multiple Submitters
No Conflicts

CA150875

rs_377177061

8 SubmittersRCV000114178 RCV000596321 RCV001074483 RCV001056175 RCV003317090 RCV004698824 RCV005025174

NM_001378615.1(CC2D2A):c.4384T>C (p.Trp1462Arg)

SNV
Germline

Chr4:15596154

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Condition: not provided
COACH syndrome 2
Retinitis pigmentosa 93
Meckel syndrome, type 6
Joubert syndrome 9

Criteria Provided
Conflicting Classifications

CA150879

rs_368720062

3 SubmittersRCV000114180 RCV002284363 RCV005031597

NM_000179.3(MSH6):c.1621A>C (p.Ser541Arg)

SNV
Germline

Chr2:47799604

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Mismatch repair cancer syndrome 3
Hereditary nonpolyposis colorectal neoplasms
Inherited MMR deficiency (Lynch syndrome)
Lynch syndrome 5

Reviewed By Expert Panel

CA008929

rs_587779778

6 SubmittersRCV000114750 RCV000129248 RCV005359054 RCV003593911 RCV005252760 RCV005600659

NM_000179.3(MSH6):c.3163G>C (p.Ala1055Pro)

SNV
Germline

Chr2:47801146

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Reviewed By Expert Panel

CA011702

rs_587779254

6 SubmittersRCV000114751 RCV000223291 RCV001216258 RCV003453034

NM_000251.3(MSH2):c.874A>T (p.Thr292Ser)

SNV
Germline

Chr2:47414350

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
not specified

Criteria Provided
Conflicting Classifications

CA022468

rs_104895022

7 SubmittersRCV000114837 RCV000115546 RCV000699802 RCV003997208 RCV001800400

NM_000249.4(MLH1):c.739T>G (p.Ser247Ala)

SNV
Germline

Chr3:37014493

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
not specified

Criteria Provided
Conflicting Classifications

CA011868

rs_63750948

7 SubmittersRCV000114847 RCV000629785 RCV001026384 RCV003997209 RCV005394380 RCV003320096

NM_000179.3(MSH6):c.1028C>T (p.Pro343Leu)

SNV
Germline

Chr2:47799011

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA007823

rs_548898238

6 SubmittersRCV000115366 RCV000212641 RCV000469621 RCV004566998 RCV004806063

NM_000179.3(MSH6):c.1106C>T (p.Thr369Ile)

SNV
Germline

Chr2:47799089

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
not specified
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA008045

rs_375974046

13 SubmittersRCV000115368 RCV000212645 RCV000210148 RCV000415687 RCV000528613 RCV000662663 RCV001193101 RCV004566999

NM_000179.3(MSH6):c.1168G>A (p.Asp390Asn)

SNV
Germline/somatic

Chr2:47799151

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome
not specified

Criteria Provided
Conflicting Classifications

CA008202

rs_147737737

9 SubmittersRCV000552028 RCV000985821 RCV000570684 RCV000758608 RCV002267855

NM_000179.3(MSH6):c.1241G>A (p.Trp414Ter)

SNV
Germline

Chr2:47799224

Pathogenic

Condition: not provided
not specified
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA008355

rs_587779914

6 SubmittersRCV000115372 RCV000506619 RCV000491836 RCV000524659 RCV004019610

NM_000179.3(MSH6):c.1561A>T (p.Thr521Ser)

SNV
Germline

Chr2:47799544

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA008790

rs_587779916

6 SubmittersRCV000115377 RCV000216113 RCV000473285 RCV003493444 RCV003997234

NM_000179.3(MSH6):c.1646C>A (p.Ser549Tyr)

SNV
Germline

Chr2:47799629

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA008999

rs_200447622

4 SubmittersRCV000546737 RCV000575160 RCV004794362 RCV003997235

NM_000179.3(MSH6):c.1652G>A (p.Gly551Asp)

SNV
Germline

Chr2:47799635

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA009006

rs_587779917

9 SubmittersRCV000115380 RCV000216184 RCV000473749 RCV000662991 RCV003997236 RCV004567000

NM_000179.3(MSH6):c.1746T>G (p.Phe582Leu)

SNV
Germline

Chr2:47799729

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
not specified
Endometrial carcinoma
Lynch syndrome 5
Endometrial carcinoma
Mismatch repair cancer syndrome 3

Criteria Provided
Conflicting Classifications

CA009115

rs_201518545

13 SubmittersRCV000115382 RCV000235184 RCV000230963 RCV000409045 RCV001192457 RCV003460812 RCV005025176

NM_000179.3(MSH6):c.1786T>A (p.Phe596Ile)

SNV
Germline

Chr2:47799769

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA009191

rs_587779918

9 SubmittersRCV000115383 RCV000233835 RCV000409692 RCV000562745 RCV001800402 RCV003997237

NM_000179.3(MSH6):c.1793A>G (p.Lys598Arg)

SNV
Germline

Chr2:47799776

Conflicting classifications of pathogenicity

not specified
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA009214

rs_587779919

9 SubmittersRCV000115384 RCV000168326 RCV000565738 RCV000663315 RCV000759845 RCV003997238

NM_000179.3(MSH6):c.188C>A (p.Ser63Tyr)

SNV
Germline

Chr2:47783421

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Hereditary cancer-predisposing syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA009399

rs_587779920

8 SubmittersRCV000115385 RCV000477543 RCV000663251 RCV000771299 RCV003460813

NM_000179.3(MSH6):c.190G>C (p.Ala64Pro)

SNV
Germline

Chr2:47783423

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome
MSH6-related disorder

Criteria Provided
Conflicting Classifications

CA009439

rs_587779921

7 SubmittersRCV000214011 RCV001041141 RCV000759850 RCV003997239 RCV004528799

NM_000179.3(MSH6):c.2171C>G (p.Ala724Gly)

SNV
Germline

Chr2:47800154

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA009795

rs_587779922

5 SubmittersRCV000115387 RCV000219041 RCV000630209 RCV003997240

NM_000179.3(MSH6):c.2173A>G (p.Ile725Val)

SNV
Germline

Chr2:47800156

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
not specified
Lynch syndrome 5
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA009801

rs_148898662

10 SubmittersRCV000115388 RCV000204867 RCV000212660 RCV000781575 RCV000986720 RCV001798329

NM_000179.3(MSH6):c.2419G>A (p.Glu807Lys)

SNV
Germline/somatic

Chr2:47800402

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome
Lynch syndrome 5
Endometrial carcinoma
Mismatch repair cancer syndrome 1
Lynch-like syndrome
Endometrial carcinoma
Lynch syndrome 5
Endometrial carcinoma
Mismatch repair cancer syndrome 3

Criteria Provided
Conflicting Classifications

CA010227

rs_587779923

15 SubmittersRCV000199520 RCV000409470 RCV000491756 RCV000656895 RCV000708875 RCV000765687 RCV001249960 RCV004567001 RCV005031603

NM_000179.3(MSH6):c.242C>T (p.Ala81Val)

SNV
Germline

Chr2:47783475

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Endometrial carcinoma
Lynch syndrome 5
Endometrial carcinoma
Mismatch repair cancer syndrome 3

Criteria Provided
Conflicting Classifications

CA010271

rs_587779924

12 SubmittersRCV000115391 RCV000412014 RCV000477204 RCV000588221 RCV003467040 RCV005394381

NM_000179.3(MSH6):c.2511C>G (p.His837Gln)

SNV
Germline

Chr2:47800494

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 5
not specified
Malignant tumor of breast
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA010333

rs_587779925

12 SubmittersRCV000115392 RCV000195931 RCV000212667 RCV000412127 RCV001193702 RCV001354925 RCV003460814 RCV003997241

NM_000179.3(MSH6):c.2712T>G (p.Asp904Glu)

SNV
Germline

Chr2:47800695

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA010773

rs_374401174

6 SubmittersRCV000115394 RCV000535809 RCV000583327 RCV003997242 RCV004567002

NM_000179.3(MSH6):c.2780T>C (p.Ile927Thr)

SNV
Germline

Chr2:47800763

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Condition: not provided
Lynch syndrome 5
Endometrial carcinoma
Lynch syndrome
Endometrial carcinoma
Lynch syndrome 5
Mismatch repair cancer syndrome 3

Criteria Provided
Conflicting Classifications

CA010911

rs_587779926

12 SubmittersRCV000115395 RCV000206053 RCV000212671 RCV000587183 RCV001253566 RCV003460815 RCV003997243 RCV005031604

NM_000179.3(MSH6):c.2951A>C (p.Asn984Thr)

SNV
Germline

Chr2:47800934

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA011183

rs_587779927

6 SubmittersRCV000115396 RCV000204834 RCV000409319 RCV001017633

NM_000179.3(MSH6):c.2960C>T (p.Thr987Ile)

SNV
Germline

Chr2:47800943

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA011210

rs_587779928

9 SubmittersRCV000115397 RCV000221869 RCV000558179 RCV000662547 RCV001731378 RCV003997244

NM_000179.3(MSH6):c.3142C>T (p.Gln1048Ter)

SNV
Germline

Chr2:47801125

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA011628

rs_200492211

8 SubmittersRCV000202056 RCV000490956 RCV000500240 RCV000544323 RCV002288592

NM_000179.3(MSH6):c.3191C>T (p.Ala1064Val)

SNV
Germline

Chr2:47803438

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA011826

rs_369042519

7 SubmittersRCV000216009 RCV000759861 RCV000691203 RCV003997246 RCV004567003

NM_000179.3(MSH6):c.3232G>C (p.Val1078Leu)

SNV
Germline

Chr2:47803479

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Condition: not provided
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA012092

rs_587779932

10 SubmittersRCV000168205 RCV000567226 RCV000662609 RCV000656897 RCV003997247 RCV004567004

NM_000179.3(MSH6):c.3260C>A (p.Pro1087His)

SNV
Germline

Chr2:47803507

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary nonpolyposis colorectal neoplasms
Mismatch repair cancer syndrome 1
Lynch syndrome 5
Condition: not provided
Lynch syndrome
MSH6-related disorder

Criteria Provided
Conflicting Classifications

CA012253

rs_63750753

18 SubmittersRCV000115410 RCV000121584 RCV000168382 RCV001787917 RCV001808341 RCV000589544 RCV003997248 RCV004528800

NM_000179.3(MSH6):c.3283C>T (p.Arg1095Cys)

SNV
Germline

Chr2:47803530

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Lynch syndrome
Lynch syndrome 5
Condition: not provided
Breast and/or ovarian cancer
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Lynch syndrome 5
Mismatch repair cancer syndrome 3
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA012434

rs_376243329

19 SubmittersRCV000121585 RCV000115413 RCV000204658 RCV000412360 RCV000586502 RCV001798330 RCV001080360 RCV003460816 RCV005394382

NM_000179.3(MSH6):c.335A>G (p.Asn112Ser)

SNV
Germline

Chr2:47791001

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 5
not specified
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Malignant tumor of breast
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA012677

rs_587779934

15 SubmittersRCV000115414 RCV000122964 RCV000212629 RCV000524173 RCV000656887 RCV001355172 RCV003997249

NM_000179.3(MSH6):c.3485C>A (p.Ala1162Asp)

SNV
Germline

Chr2:47804956

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Endometrial carcinoma
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA013090

rs_587779935

6 SubmittersRCV000115416 RCV000212684 RCV000819197 RCV003453035 RCV005359078

NM_000179.3(MSH6):c.3647-6T>A

SNV
Germline

Chr2:47806198

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Lynch syndrome
MSH6-related disorder

Criteria Provided
Conflicting Classifications

CA013707

rs_182871847

17 SubmittersRCV000115418 RCV000579665 RCV000587059 RCV000662552 RCV001081821 RCV001357466 RCV003997250 RCV004739399

NM_000179.3(MSH6):c.3727A>T (p.Thr1243Ser)

SNV
Germline

Chr2:47806284

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Carcinoma of colon
Lynch syndrome
Lynch syndrome 5
bilateral breast cancer
Hereditary nonpolyposis colorectal neoplasms
not specified
Condition: not provided
Inherited ovarian cancer (without breast cancer)

Criteria Provided
Conflicting Classifications

CA014099

rs_147453999

23 SubmittersRCV000115419 RCV000212687 RCV000122966 RCV000659895 RCV001005027 RCV001081954 RCV001358662 RCV000588959 RCV004584193

NM_000179.3(MSH6):c.3758T>A (p.Val1253Glu)

SNV
Germline

Chr2:47806315

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome 5
Condition: not provided
Lynch syndrome
Malignant tumor of breast
Lynch syndrome 5
Mismatch repair cancer syndrome 3
Endometrial carcinoma
Endometrial carcinoma
MSH6-related disorder

Criteria Provided
Conflicting Classifications

CA014183

rs_202066386

19 SubmittersRCV000115421 RCV000196523 RCV000212688 RCV001139791 RCV000656901 RCV003997251 RCV001355140 RCV005031605 RCV003467041 RCV004739400

NM_000179.3(MSH6):c.3788G>A (p.Arg1263His)

SNV
Germline

Chr2:47806345

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 5
Mismatch repair cancer syndrome 1
Endometrial carcinoma
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA014284

rs_147852216

16 SubmittersRCV000115423 RCV000121588 RCV000662548 RCV001079217 RCV000656903 RCV000764435 RCV005229905

NM_000179.3(MSH6):c.3824G>A (p.Cys1275Tyr)

SNV
Germline

Chr2:47806474

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Condition: not provided
not specified
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA014456

rs_150990541

12 SubmittersRCV000115424 RCV000119134 RCV000410495 RCV000656904 RCV001194392 RCV004567006 RCV001354737

NM_000179.3(MSH6):c.644T>G (p.Val215Gly)

SNV
Germline

Chr2:47798627

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA016108

rs_587779946

6 SubmittersRCV000115437 RCV001190341 RCV001071512 RCV003467043 RCV003997254

NM_000179.3(MSH6):c.682G>A (p.Glu228Lys)

SNV
Germline

Chr2:47798665

Conflicting classifications of pathogenicity

Condition: not provided
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Endometrial carcinoma
Lynch syndrome 5
Endometrial carcinoma
Mismatch repair cancer syndrome 3

Criteria Provided
Conflicting Classifications

CA016246

rs_587779947

9 SubmittersRCV000115441 RCV000410116 RCV000466432 RCV000566072 RCV003997255 RCV003467044 RCV005394383

NM_000179.3(MSH6):c.817G>A (p.Gly273Arg)

SNV
Germline

Chr2:47798800

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA016493

rs_587779948

5 SubmittersRCV000115443 RCV000212634 RCV000685169 RCV003997256

NM_000179.3(MSH6):c.821G>A (p.Ser274Asn)

SNV
Germline

Chr2:47798804

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA016514

rs_587779949

7 SubmittersRCV000115444 RCV000222274 RCV000554997 RCV003997257 RCV004567007

NM_000179.3(MSH6):c.926C>G (p.Ser309Cys)

SNV
Germline

Chr2:47798909

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Carcinoma of colon
Ovarian cancer
Lynch syndrome 5
MSH6-related disorder

Criteria Provided
Conflicting Classifications

CA016656

rs_544222338

11 SubmittersRCV000115446 RCV000212637 RCV000656891 RCV001089225 RCV001353732 RCV003153368 RCV005420546 RCV004529928

NM_000249.4(MLH1):c.1136A>T (p.Tyr379Phe)

SNV
Germline

Chr3:37025734

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
not specified
MLH1-related disorder
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA004439

rs_143009528

9 SubmittersRCV000115451 RCV000212530 RCV001063775 RCV002265606 RCV003407496 RCV003997258

NM_000249.4(MLH1):c.1148T>C (p.Met383Thr)

SNV
Germline

Chr3:37025746

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ovarian cancer
not specified
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA004469

rs_141344760

13 SubmittersRCV000115452 RCV000148622 RCV000212532 RCV000459634 RCV000656861 RCV000662617 RCV003997259

NM_000249.4(MLH1):c.1202G>A (p.Ser401Asn)

SNV
Germline

Chr3:37025800

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome
not specified

Criteria Provided
Conflicting Classifications

CA004704

rs_587779951

10 SubmittersRCV000115454 RCV000222306 RCV000813295 RCV000663036 RCV003997260 RCV001824610

NM_000249.4(MLH1):c.1344G>T (p.Glu448Asp)

SNV
Germline

Chr3:37025942

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Conflicting Classifications

CA005039

rs_587779952

15 SubmittersRCV000115457 RCV000212536 RCV000412424 RCV000545514 RCV003997261 RCV002505032

NM_000249.4(MLH1):c.1379A>C (p.Glu460Ala)

SNV
Germline

Chr3:37025977

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome
not specified
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Condition: not provided
MLH1-related disorder

Criteria Provided
Conflicting Classifications

CA005155

rs_202038499

17 SubmittersRCV000115459 RCV000196112 RCV000254663 RCV000524234 RCV000662461 RCV001354082 RCV004748582

NM_000249.4(MLH1):c.1558+5G>A

SNV
Germline/somatic

Chr3:37028937

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Colorectal cancer, hereditary nonpolyposis, type 2
Breast and/or ovarian cancer
not specified
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA005861

rs_199935667

15 SubmittersRCV000115461 RCV000590226 RCV000758646 RCV001086042 RCV000515436 RCV000663109 RCV003149796 RCV001175375 RCV005364994

NM_000249.4(MLH1):c.1637A>G (p.Lys546Arg)

SNV
Germline

Chr3:37040264

Conflicting classifications of pathogenicity

not specified
Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA006196

rs_587779954

12 SubmittersRCV000115463 RCV000211532 RCV000566461 RCV000625759 RCV000629933 RCV000662406 RCV000759809

NM_000249.4(MLH1):c.170A>C (p.Lys57Thr)

SNV
Germline

Chr3:36996672

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Conflicting Classifications

CA006457

rs_587779955

6 SubmittersRCV000115464 RCV000212514 RCV000816365 RCV003997262 RCV005246645

NM_000249.4(MLH1):c.1730C>T (p.Ser577Leu)

SNV
Germline

Chr3:37042330

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA006520

rs_56185292

17 SubmittersRCV000115465 RCV000121362 RCV000226023 RCV000411289 RCV000515241 RCV000656864 RCV003997263

NM_000249.4(MLH1):c.1834G>A (p.Val612Ile)

SNV
Germline

Chr3:37047621

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA007063

rs_587779956

11 SubmittersRCV000470919 RCV000568759 RCV000590125 RCV001260257 RCV003474713 RCV003997264

NM_000249.4(MLH1):c.945C>G (p.His315Gln)

SNV
Germline

Chr3:37020370

Conflicting classifications of pathogenicity

Condition: not provided
Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
not specified

Criteria Provided
Conflicting Classifications

CA013235

rs_587779959

12 SubmittersRCV000115488 RCV000122978 RCV000568893 RCV000524323 RCV001253192 RCV001553749

NM_000251.3(MSH2):c.-3G>C

SNV
Germline

Chr2:47403189

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Condition: not provided
Lynch syndrome
not specified
Hereditary nonpolyposis colorectal neoplasms
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA021130

rs_587779960

12 SubmittersRCV000115491 RCV000410255 RCV000589085 RCV001357931 RCV001818270 RCV001854552 RCV004529929

NM_000251.3(MSH2):c.1027A>G (p.Asn343Asp)

SNV
Germline

Chr2:47416380

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA016891

rs_587779961

7 SubmittersRCV000115492 RCV000467692 RCV000562717 RCV004567008 RCV004806064

NM_000251.3(MSH2):c.1122G>C (p.Gln374His)

SNV
Germline

Chr2:47429787

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA017281

rs_370378607

5 SubmittersRCV000115493 RCV000122979 RCV000580948 RCV003997266

NM_000251.3(MSH2):c.1182T>G (p.Phe394Leu)

SNV
Germline

Chr2:47429847

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
not specified
Muir-Torré syndrome
Mismatch repair cancer syndrome 2
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA017419

rs_374135434

12 SubmittersRCV000115496 RCV000212598 RCV000477595 RCV000663103 RCV001818271 RCV005394384 RCV003997267

NM_000251.3(MSH2):c.1204C>A (p.Gln402Lys)

SNV
Germline

Chr2:47429869

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA017489

rs_63751412

9 SubmittersRCV000115497 RCV000206195 RCV000574856 RCV000663163 RCV001193851 RCV003997268

NM_000251.3(MSH2):c.1238A>C (p.Gln413Pro)

SNV
Germline

Chr2:47429903

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA017617

rs_587779962

9 SubmittersRCV000115499 RCV000212601 RCV000515341 RCV000532709 RCV003467045 RCV003997269

NM_000251.3(MSH2):c.1505A>G (p.Asp502Gly)

SNV
Germline

Chr2:47463149

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome 1
MSH2-related disorder
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA018475

rs_148192104

10 SubmittersRCV000115502 RCV000222010 RCV000475133 RCV001527007 RCV003460819 RCV004529930 RCV003997270

NM_000251.3(MSH2):c.1582A>C (p.Lys528Gln)

SNV
Germline

Chr2:47466729

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Carcinoma of colon
Lynch syndrome
Lynch syndrome 1
Mismatch repair cancer syndrome 2
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA018669

rs_199744440

9 SubmittersRCV000115503 RCV000463961 RCV000491225 RCV000662996 RCV001354840 RCV003997271 RCV005025177

NM_000251.3(MSH2):c.1601G>A (p.Arg534His)

SNV
Germline

Chr2:47466748

Conflicting classifications of pathogenicity

not specified
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Condition: not provided
Lynch syndrome
MSH2-related disorder
Muir-Torré syndrome
Mismatch repair cancer syndrome 2
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA018712

rs_587778523

15 SubmittersRCV000121559 RCV000122981 RCV000492001 RCV000662395 RCV000656878 RCV003997272 RCV004734649 RCV005394385

NM_000251.3(MSH2):c.1709A>G (p.Tyr570Cys)

SNV
Germline

Chr2:47471012

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA019092

rs_587779963

7 SubmittersRCV000115506 RCV000555354 RCV000574691 RCV003467046 RCV003323401 RCV003997273

NM_000251.3(MSH2):c.1724A>G (p.Asp575Gly)

SNV
Germline

Chr2:47471027

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome
not specified

Criteria Provided
Conflicting Classifications

CA019119

rs_370330868

9 SubmittersRCV000115507 RCV000198150 RCV000679295 RCV000708833 RCV001193892

NM_000251.3(MSH2):c.1847C>G (p.Pro616Arg)

SNV
Germline

Chr2:47475112

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Carcinoma of colon
not specified
MSH2-related disorder
Hereditary nonpolyposis colon cancer

Criteria Provided
Conflicting Classifications

CA019432

rs_587779965

14 SubmittersRCV000115512 RCV000212611 RCV000205979 RCV000411841 RCV001355718 RCV001194001 RCV004734650 RCV005438355

NM_000251.3(MSH2):c.2554G>C (p.Glu852Gln)

SNV
Germline

Chr2:47480791

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA020723

rs_587779966

5 SubmittersRCV000115520 RCV000196855 RCV000221197 RCV003997274

NM_000251.3(MSH2):c.2786G>A (p.Arg929Gln)

SNV
Germline

Chr2:47482930

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA020939

rs_587779967

9 SubmittersRCV000469769 RCV000583830 RCV000662933 RCV000759829 RCV003997275

NM_000251.3(MSH2):c.2798C>T (p.Thr933Ile)

SNV
Germline

Chr2:47482942

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA020953

rs_587779968

8 SubmittersRCV000196057 RCV000216013 RCV000588848 RCV003993805 RCV005420547

NM_000251.3(MSH2):c.2801C>T (p.Thr934Met)

SNV
Germline

Chr2:47482945

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome 1
Carcinoma of colon
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA020959

rs_587779969

13 SubmittersRCV000115524 RCV000212622 RCV001086842 RCV001194031 RCV000986691 RCV001357791 RCV003997276

NM_000251.3(MSH2):c.328A>C (p.Lys110Gln)

SNV
Germline

Chr2:47408517

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA021018

rs_587779970

11 SubmittersRCV000115526 RCV000567258 RCV000475276 RCV001269195 RCV003997277 RCV003467047

NM_000251.3(MSH2):c.362A>G (p.Tyr121Cys)

SNV
Germline

Chr2:47408551

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA021046

rs_587779971

10 SubmittersRCV000115527 RCV000220764 RCV000226077 RCV001257467 RCV003387764 RCV003997278

NM_000251.3(MSH2):c.382C>G (p.Leu128Val)

SNV
Germline

Chr2:47410109

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome
not specified
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Endometrial carcinoma
Condition: not provided
Breast and/or ovarian cancer
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA021100

rs_145649774

16 SubmittersRCV000115528 RCV000195415 RCV000212583 RCV000524406 RCV000986649 RCV001353804 RCV001719858 RCV003492474 RCV004700420

NM_000251.3(MSH2):c.386C>T (p.Ser129Phe)

SNV
Germline

Chr2:47410113

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA021109

rs_587779972

4 SubmittersRCV000115529 RCV001854553 RCV002354293 RCV004567009

NM_000251.3(MSH2):c.403C>T (p.Leu135Phe)

SNV
Germline

Chr2:47410130

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA021136

rs_193096019

12 SubmittersRCV000115530 RCV000199902 RCV000411543 RCV000217044 RCV001175574 RCV003997279 RCV004734651

NM_000251.3(MSH2):c.607G>A (p.Gly203Arg)

SNV
Germline

Chr2:47410334

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Lynch syndrome 1
Mismatch repair cancer syndrome 2
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA021564

rs_587779973

9 SubmittersRCV000115536 RCV000221014 RCV000409174 RCV000472250 RCV003997280 RCV005394386

NM_000251.3(MSH2):c.610G>A (p.Gly204Arg)

SNV
Germline

Chr2:47410337

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Muir-Torré syndrome
Mismatch repair cancer syndrome 2
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA021573

rs_63750574

10 SubmittersRCV000115537 RCV000196378 RCV000215932 RCV000411245 RCV002505033 RCV003997281

NM_000251.3(MSH2):c.709A>G (p.Ile237Val)

SNV
Germline

Chr2:47412477

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA022070

rs_63751307

5 SubmittersRCV000115540 RCV000567353 RCV000543104 RCV003997282

NM_000251.3(MSH2):c.70C>T (p.Gln24Ter)

SNV
Germline

Chr2:47403261

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Lynch syndrome
not specified
Mismatch repair cancer syndrome 2
Muir-Torré syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA022076

rs_587779976

9 SubmittersRCV000115541 RCV000772129 RCV002515795 RCV003453042 RCV004017400 RCV003479007 RCV005025178

NM_000251.3(MSH2):c.845A>G (p.Asp282Gly)

SNV
Germline

Chr2:47414321

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
not specified

Criteria Provided
Conflicting Classifications

CA022423

rs_587779978

6 SubmittersRCV000115544 RCV000212593 RCV000472973 RCV000663090 RCV001193849

NM_000535.7(PMS2):c.1004A>G (p.Asn335Ser)

SNV
Germline/somatic

Chr7:5989940

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome 4
Condition: not provided
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch-like syndrome
Malignant tumor of breast
Hereditary cancer
PMS2-related disorder

Criteria Provided
Conflicting Classifications

CA009076

rs_200513014

28 SubmittersRCV000115647 RCV000121835 RCV000415644 RCV000586586 RCV001798333 RCV004691753 RCV001080700 RCV001249992 RCV001354576 RCV003492485 RCV003389688

NM_000535.7(PMS2):c.1041G>C (p.Glu347Asp)

SNV
Germline

Chr7:5989903

Conflicting classifications of pathogenicity

Condition: not provided
Lynch syndrome 4
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA009125

rs_150515238

7 SubmittersRCV000115648 RCV000411537 RCV000458229 RCV000565848 RCV003997283

NM_000535.7(PMS2):c.1096G>C (p.Asp366His)

SNV
Germline

Chr7:5989848

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Lynch syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
PMS2-related disorder
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA009190

rs_141769057

14 SubmittersRCV000115649 RCV000220170 RCV000590932 RCV000586764 RCV001085405 RCV004742252 RCV003315638

NM_000535.7(PMS2):c.1169C>T (p.Ala390Val)

SNV
Germline

Chr7:5987596

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome
PMS2-related disorder
Lynch syndrome 4
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA009271

rs_587780039

10 SubmittersRCV000115651 RCV000229947 RCV000212859 RCV001199850 RCV001030722 RCV003421993 RCV003467050 RCV003997284

NM_000535.7(PMS2):c.1240G>T (p.Asp414Tyr)

SNV
Germline

Chr7:5987525

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Lynch syndrome 4
Lynch syndrome
PMS2-related disorder

Criteria Provided
Conflicting Classifications

CA009404

rs_370752614

13 SubmittersRCV000123073 RCV000217417 RCV000586084 RCV000855654 RCV003460820 RCV003997286 RCV004742253

NM_000535.7(PMS2):c.1279C>T (p.Arg427Cys)

SNV
Germline

Chr7:5987486

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
PMS2-related disorder
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA009466

rs_376042544

9 SubmittersRCV000115655 RCV000228417 RCV000565134 RCV003415890 RCV003467051

NM_000535.7(PMS2):c.1490G>A (p.Gly497Asp)

SNV
Germline

Chr7:5987275

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Condition: not provided
Lynch syndrome 4
Malignant tumor of breast

Criteria Provided
Conflicting Classifications

CA009765

rs_199739859

20 SubmittersRCV000115659 RCV000123081 RCV000121849 RCV000656948 RCV000663092 RCV001354802

NM_000535.7(PMS2):c.1501G>A (p.Val501Met)

SNV
Germline

Chr7:5987264

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
not specified
Lynch syndrome 4
Hereditary cancer
PMS2-related disorder
Inherited polyposis and early onset colorectal cancer - germline testing
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA009786

rs_540287433

13 SubmittersRCV000115660 RCV000227751 RCV000588840 RCV001530922 RCV005600674 RCV003492486 RCV004742254 RCV005055069 RCV005359084

NM_000535.7(PMS2):c.1567T>A (p.Ser523Thr)

SNV
Germline

Chr7:5987198

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Carcinoma of colon
Breast and/or ovarian cancer
Hereditary nonpolyposis colon cancer
PMS2-related disorder

Criteria Provided
Conflicting Classifications

CA009875

rs_63751132

19 SubmittersRCV000115661 RCV000121851 RCV000656949 RCV001082540 RCV000662627 RCV001357983 RCV003149798 RCV002279936 RCV003389689

NM_000535.7(PMS2):c.1883G>A (p.Arg628Gln)

SNV
Germline

Chr7:5986882

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome 4
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA010408

rs_587780044

8 SubmittersRCV000115667 RCV000214212 RCV000559426 RCV001420821 RCV004567012 RCV003997287

NM_000535.7(PMS2):c.1937G>T (p.Arg646Met)

SNV
Germline

Chr7:5986828

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Lynch syndrome 4
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA010512

rs_372341850

12 SubmittersRCV000195978 RCV000115668 RCV000212864 RCV001844040 RCV004567013 RCV003997288

NM_000535.7(PMS2):c.1999G>A (p.Glu667Lys)

SNV
Germline

Chr7:5986766

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 4
not specified
Familial cancer of breast
Lynch syndrome
PMS2-related disorder

Criteria Provided
Conflicting Classifications

CA010622

rs_587780045

15 SubmittersRCV000115669 RCV000468280 RCV000588762 RCV003467052 RCV002281936 RCV003322597 RCV003997289 RCV004742257

NM_000535.7(PMS2):c.2012C>T (p.Thr671Met)

SNV
Germline

Chr7:5982986

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
not specified
Mismatch repair cancer syndrome 1
Lynch syndrome 4
Lynch syndrome 4
Condition: not provided
Cancer or benign tumor
Lynch syndrome
Mismatch repair cancer syndrome 4
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA010720

rs_587780046

29 SubmittersRCV000115670 RCV000144642 RCV000200451 RCV000212865 RCV000515168 RCV000987820 RCV000488189 RCV005625292 RCV003483476 RCV003149799 RCV004760379

NM_000535.7(PMS2):c.2035A>G (p.Ile679Val)

SNV
Germline

Chr7:5982963

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
not specified

Criteria Provided
Conflicting Classifications

CA010735

rs_587780047

8 SubmittersRCV000115671 RCV000212866 RCV000547118 RCV004567014 RCV005229908

NM_000535.7(PMS2):c.2108C>T (p.Thr703Met)

SNV
Germline

Chr7:5982890

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 4
Hereditary nonpolyposis colorectal neoplasms
not specified
Mismatch repair cancer syndrome 4
Lynch syndrome 4
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA010829

rs_370196722

14 SubmittersRCV000115673 RCV000587414 RCV000662645 RCV000456314 RCV000855604 RCV002505034 RCV005359085

NM_000535.7(PMS2):c.2288A>G (p.Glu763Gly)

SNV
Germline

Chr7:5977745

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA011199

rs_587780052

12 SubmittersRCV000115681 RCV000235199 RCV000457397 RCV001262165

NM_000535.7(PMS2):c.2350G>A (p.Asp784Asn)

SNV
Germline

Chr7:5977683

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome 4
Lynch syndrome 4
Mismatch repair cancer syndrome 1
Condition: not provided
Breast and/or ovarian cancer
PMS2-related disorder
Malignant tumor of breast

Criteria Provided
Conflicting Classifications

CA011325

rs_143340522

19 SubmittersRCV000115684 RCV000206341 RCV000212871 RCV000411108 RCV000515369 RCV000759201 RCV003149800 RCV003415891 RCV001355417

NM_000535.7(PMS2):c.2437C>T (p.Arg813Trp)

SNV
Germline

Chr7:5977596

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Ovarian cancer
Lynch syndrome 4
Hereditary cancer
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA011485

rs_375968016

16 SubmittersRCV000115687 RCV000212874 RCV000196074 RCV000656952 RCV003153372 RCV003467055 RCV003492487 RCV005359087

NM_000535.7(PMS2):c.2523G>A (p.Trp841Ter)

SNV
Germline

Chr7:5973465

Conflicting classifications of pathogenicity

not specified
Lynch syndrome 4
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colon cancer
PMS2-related disorder

Criteria Provided
Conflicting Classifications

CA048801

rs_587780057

7 SubmittersRCV000586246 RCV000987818 RCV002256045 RCV004700421 RCV004742258

NM_000535.7(PMS2):c.2T>C (p.Met1Thr)

SNV
Germline

Chr7:6009018

Pathogenic

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Hereditary nonpolyposis colon cancer
Gastric cancer
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA011813

rs_587780059

11 SubmittersRCV000115692 RCV000461697 RCV000574743 RCV000662846 RCV001731380 RCV003162538 RCV004556719

NM_000535.7(PMS2):c.319C>T (p.Arg107Trp)

SNV
Germline

Chr7:6003724

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome
Hereditary nonpolyposis colon cancer
Lynch syndrome 4
PMS2-related disorder
Lynch syndrome 4
Mismatch repair cancer syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA011828

rs_188006077

11 SubmittersRCV000115693 RCV000465201 RCV000586637 RCV004806065 RCV005237549 RCV003467056 RCV004742259 RCV005394388

NM_000535.7(PMS2):c.354-5C>G

SNV
Germline

Chr7:6002641

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA011959

rs_200591010

10 SubmittersRCV000115694 RCV000212841 RCV000200031 RCV001089084 RCV001174967 RCV001798336

NM_000535.7(PMS2):c.475G>A (p.Val159Met)

SNV
Germline

Chr7:6002515

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Mismatch repair cancer syndrome 1
Lynch syndrome 4
Carcinoma of colon
Lynch syndrome 4
not specified
PMS2-related disorder
Lynch syndrome
Hereditary cancer
Lynch syndrome 4
Mismatch repair cancer syndrome 4

Criteria Provided
Conflicting Classifications

CA012132

rs_142416537

19 SubmittersRCV000115696 RCV000123087 RCV000235195 RCV000765968 RCV001355954 RCV000987848 RCV002465515 RCV003952550 RCV003997290 RCV004700422 RCV005042215

NM_000535.7(PMS2):c.620G>A (p.Gly207Glu)

SNV
Germline

Chr7:5999193

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Endometrial carcinoma
Polyp of colon
not specified
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 4
Breast and/or ovarian cancer
PMS2-related disorder

Criteria Provided
Conflicting Classifications

CA012442

rs_374704824

18 SubmittersRCV000115699 RCV000123090 RCV000148736 RCV000212845 RCV001079691 RCV000757678 RCV000987846 RCV001798337 RCV003407497

NM_000535.7(PMS2):c.823C>T (p.Gln275Ter)

SNV
Germline

Chr7:5995614

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Mismatch repair cancer syndrome 1
Lynch syndrome 4
Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer
Lynch syndrome 4
Lynch syndrome
Lynch syndrome 4
Mismatch repair cancer syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA012937

rs_587780062

19 SubmittersRCV000115704 RCV000216292 RCV000763589 RCV000552808 RCV001264438 RCV000709755 RCV003997292 RCV005042216

NM_000535.7(PMS2):c.857A>G (p.Asp286Gly)

SNV
Germline

Chr7:5995580

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Condition: not provided
Lynch syndrome
Lynch syndrome 4
Mismatch repair cancer syndrome 1
Breast and/or ovarian cancer
Lynch syndrome
Mismatch repair cancer syndrome 4
PMS2-related disorder

Criteria Provided
Conflicting Classifications

CA013022

rs_116788608

21 SubmittersRCV000115706 RCV000121861 RCV000144656 RCV000197094 RCV000409948 RCV000588331 RCV000708992 RCV000765960 RCV001798338 RCV003326121 RCV004742260

NM_000535.7(PMS2):c.880C>T (p.Arg294Trp)

SNV
Germline

Chr7:5995557

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 4
PMS2-related disorder
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA013136

rs_563433235

8 SubmittersRCV000115708 RCV000168085 RCV000212854 RCV003315640 RCV003407498 RCV003997293

NM_000535.7(PMS2):c.916G>A (p.Val306Met)

SNV
Germline

Chr7:5992045

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1
Lynch syndrome 4
Lynch syndrome
PMS2-related disorder

Criteria Provided
Conflicting Classifications

CA013247

rs_587780063

9 SubmittersRCV000115710 RCV000469956 RCV000656943 RCV001093686 RCV003460827 RCV003997295 RCV004742261

NM_000535.7(PMS2):c.989-1G>T

SNV
Germline

Chr7:5989956

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA013429

rs_587780064

9 SubmittersRCV000115713 RCV000563759 RCV000697325 RCV001258088 RCV001804845 RCV003997296

NM_002354.3(EPCAM):c.267G>C (p.Gln89His)

SNV
Germline

Chr2:47373890

Conflicting classifications of pathogenicity

not specified
Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
EPCAM-related disorder

Criteria Provided
Conflicting Classifications

CA287877

rs_146480420

13 SubmittersRCV000115770 RCV000123185 RCV000589651 RCV000664266 RCV004751265

NM_002878.4(RAD51D):c.493C>T (p.Arg165Trp)

SNV
Germline

Chr17:35106469

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 4
Lynch syndrome 1
not specified
Breast and/or ovarian cancer
Familial ovarian cancer

Criteria Provided
Conflicting Classifications

CA287983

rs_544654228

17 SubmittersRCV000115817 RCV000212962 RCV000234729 RCV000786005 RCV000781805 RCV003492495 RCV005600677

NM_018344.6(SLC29A3):c.1228C>T (p.Gln410Ter)

SNV
Germline

Chr10:71362408

Pathogenic/Likely pathogenic

H syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA155236

rs_587780462

2 SubmittersRCV000118376 RCV002307398

NM_018344.6(SLC29A3):c.300+1G>A

SNV
Germline

Chr10:71323055

Pathogenic

H syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA155238

rs_587780463

5 SubmittersRCV000118377

NM_000179.3(MSH6):c.1367G>A (p.Trp456Ter)

SNV
Germline

Chr2:47799350

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA008538

rs_587780538

6 SubmittersRCV000519222 RCV000491356 RCV002514591 RCV003453048 RCV004806067

NM_000179.3(MSH6):c.3173-10C>T

SNV
Germline

Chr2:47803410

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Lynch syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA011755

rs_587780559

8 SubmittersRCV000119240 RCV000129377 RCV000433737 RCV001357336 RCV003997308 RCV005420549

NM_000540.3(RYR1):c.11708G>A (p.Arg3903Gln)

SNV
Germline

Chr19:38543365

Likely pathogenic

Condition: not provided
RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1
Central core myopathy
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia of anesthesia

Reviewed By Expert Panel

CA023926

rs_148399313

8 SubmittersRCV000119437 RCV001389265 RCV001580388 RCV004796024 RCV004017404

NM_000540.3(RYR1):c.11798A>G (p.Tyr3933Cys)

SNV
Germline

Chr19:38543551

Conflicting classifications of pathogenicity

Condition: not provided
Malignant hyperthermia, susceptibility to, 1
RYR1-related disorder
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion
Malignant hyperthermia, susceptibility to, 1
Central core myopathy
Central core myopathy
See cases
not specified
RYR1-related myopathy
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
Central core myopathy

Criteria Provided
Conflicting Classifications

CA023938

rs_147136339

23 SubmittersRCV000119441 RCV000148797 RCV000655533 RCV000764196 RCV001331321 RCV002251988 RCV003398723 RCV003993810 RCV005016406

NM_000540.3(RYR1):c.130C>T (p.Arg44Cys)

SNV
Germline

Chr19:38440829

Likely pathogenic; drug response

Condition: not provided
sevoflurane response - Toxicity
RYR1-related disorder
desflurane response - Toxicity
enflurane response - Toxicity
halothane response - Toxicity
isoflurane response - Toxicity
methoxyflurane response - Toxicity
Malignant hyperthermia of anesthesia
King Denborough syndrome
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1
succinylcholine response - Toxicity
Central core myopathy

Reviewed By Expert Panel

CA024034

rs_193922748

13 SubmittersRCV000119473 RCV001787949 RCV001238887 RCV001787944 RCV001787945 RCV001787946 RCV001787947 RCV001787948 RCV004689616 RCV005025189 RCV001588936 RCV001787950 RCV003338417

NM_000540.3(RYR1):c.14210G>A (p.Arg4737Gln)

SNV
Germline

Chr19:38577955

Pathogenic

Condition: not provided
RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 1
Congenital myopathy with fiber type disproportion
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
King Denborough syndrome

Reviewed By Expert Panel

CA024118

rs_193922868

12 SubmittersRCV000119503 RCV001380753 RCV003231155 RCV002498548

NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu)

SNV
Germline

Chr19:38586140

Likely pathogenic

Malignant hyperthermia, susceptibility to, 1
Condition: not provided
RYR1-related disorder
Malignant hyperthermia of anesthesia
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1
Central core myopathy
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
Inborn genetic diseases

Reviewed By Expert Panel

CA024276

rs_146876145

24 SubmittersRCV000148804 RCV000119571 RCV000554319 RCV000605381 RCV001249254 RCV001729396 RCV005003480 RCV004658969

NM_000540.3(RYR1):c.1589G>A (p.Arg530His)

SNV
Germline

Chr19:38455463

Likely pathogenic

Condition: not provided
Malignant hyperthermia, susceptibility to, 1
RYR1-related disorder
Malignant hyperthermia of anesthesia
King Denborough syndrome
King Denborough syndrome
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
Inborn genetic diseases

Reviewed By Expert Panel

CA024291

rs_111888148

22 SubmittersRCV000119576 RCV000148805 RCV000655554 RCV001449797 RCV001249073 RCV005016407 RCV004658970

NM_000540.3(RYR1):c.1597C>T (p.Arg533Cys)

SNV
Germline

Chr19:38455471

Pathogenic; drug response

Condition: not provided
Malignant hyperthermia, susceptibility to, 1
RYR1-related disorder
enflurane response - Toxicity
isoflurane response - Toxicity
sevoflurane response - Toxicity
succinylcholine response - Toxicity
desflurane response - Toxicity
Malignant hyperthermia of anesthesia
Congenital multicore myopathy with external ophthalmoplegia
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1
Central core myopathy
halothane response - Toxicity
methoxyflurane response - Toxicity

Reviewed By Expert Panel

CA024293

rs_193922768

10 SubmittersRCV000119577 RCV001588943 RCV000802081 RCV003227650 RCV003227652 RCV003227654 RCV003227655 RCV003227649 RCV004700425 RCV005016408 RCV003227651 RCV003227653

NM_000540.3(RYR1):c.1841G>T (p.Arg614Leu)

SNV
Germline

Chr19:38457546

Pathogenic; drug response

Condition: not provided
RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1
desflurane response - Toxicity
halothane response - Toxicity
enflurane response - Toxicity
isoflurane response - Toxicity
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
Central core myopathy
methoxyflurane response - Toxicity
sevoflurane response - Toxicity
succinylcholine response - Toxicity

Reviewed By Expert Panel

CA024313

rs_193922772

9 SubmittersRCV000119587 RCV001068141 RCV001705880 RCV002222020 RCV002222022 RCV002222021 RCV002222023 RCV002477305 RCV002222024 RCV002222025 RCV002222026

NM_000540.3(RYR1):c.5183C>T (p.Ser1728Phe)

SNV
Germline

Chr19:38485838

Likely pathogenic

Condition: not provided
Malignant hyperthermia, susceptibility to, 1
Malignant hyperthermia of anesthesia
Inborn genetic diseases
RYR1-related disorder
Central core myopathy
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1
Congenital myopathy with fiber type disproportion
Congenital multicore myopathy with external ophthalmoplegia

Reviewed By Expert Panel

CA024494

rs_193922781

16 SubmittersRCV000119633 RCV000148807 RCV001449805 RCV001265978 RCV001057054 RCV002505055

NM_000540.3(RYR1):c.5988C>T (p.Arg1996=)

SNV
Germline

Chr19:38490249

Likely pathogenic

Condition: not provided
Central core myopathy
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia

Criteria Provided
Single Submitter

CA024548

rs_193922787

2 SubmittersRCV000119645 RCV003224799

NM_000540.3(RYR1):c.6838G>A (p.Val2280Ile)

SNV
Germline

Chr19:38496901

Likely pathogenic

Condition: not provided
Malignant hyperthermia, susceptibility to, 1
not specified
RYR1-related disorder
Malignant hyperthermia of anesthesia
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
Congenital multicore myopathy with external ophthalmoplegia
Inborn genetic diseases

Reviewed By Expert Panel

CA024651

rs_193922797

19 SubmittersRCV000119670 RCV000185536 RCV000502398 RCV000691232 RCV003323407 RCV005003481 RCV005268555

NM_000540.3(RYR1):c.7282G>A (p.Ala2428Thr)

SNV
Germline

Chr19:38499975

Likely pathogenic; drug response

Condition: not provided
Congenital multicore myopathy with external ophthalmoplegia
methoxyflurane response - Toxicity
sevoflurane response - Toxicity
succinylcholine response - Toxicity
Central core myopathy
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion
Malignant hyperthermia, susceptibility to, 1
Inborn genetic diseases
Malignant hyperthermia, susceptibility to
RYR1-related disorder
enflurane response - Toxicity
isoflurane response - Toxicity
desflurane response - Toxicity
halothane response - Toxicity

Reviewed By Expert Panel

CA024738

rs_193922809

17 SubmittersRCV000119695 RCV001127649 RCV001788011 RCV001788012 RCV001788013 RCV001127651 RCV002492410 RCV001127650 RCV004019662 RCV004556734 RCV001236218 RCV001788008 RCV001788010 RCV001788007 RCV001788009

NM_000540.3(RYR1):c.7291G>A (p.Asp2431Asn)

SNV
Germline

Chr19:38499984

Likely pathogenic

Condition: not provided
Malignant hyperthermia, susceptibility to, 1
Malignant hyperthermia of anesthesia
Central core myopathy
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
RYR1-related disorder

Reviewed By Expert Panel

CA024741

rs_193922810

10 SubmittersRCV000119696 RCV000148824 RCV004525874 RCV005025190 RCV001854585

NM_006941.4(SOX10):c.1127C>G (p.Ser376Ter)

SNV
Unknown

Chr22:37973769

Likely pathogenic

PCWH syndrome

Criteria Provided
Single Submitter

CA156405

rs_483353058

1 SubmittersRCV000119813

NM_000249.4(MLH1):c.52C>T (p.Arg18Cys)

SNV
Germline

Chr3:36993599

Conflicting classifications of pathogenicity

not specified
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
MLH1-related disorder
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA010776

rs_367654552

18 SubmittersRCV000121355 RCV000410307 RCV000130101 RCV000199110 RCV000656856 RCV003935160 RCV003997344

NM_000251.3(MSH2):c.5C>T (p.Ala2Val)

SNV
Germline

Chr2:47403196

Conflicting classifications of pathogenicity

not specified
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Condition: not provided
Mismatch repair cancer syndrome 2
Lynch syndrome 1
Muir-Torré syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA021548

rs_587778521

14 SubmittersRCV000121557 RCV000168363 RCV000561626 RCV000410801 RCV000512708 RCV005025193 RCV003997346

NM_000251.3(MSH2):c.208G>A (p.Ala70Thr)

SNV
Germline

Chr2:47403399

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
MSH2-related disorder
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA019989

rs_587778522

8 SubmittersRCV000121558 RCV000771511 RCV000808087 RCV004567049 RCV004528832 RCV003997347

NM_000251.3(MSH2):c.1631T>C (p.Ile544Thr)

SNV
Germline

Chr2:47466778

Conflicting classifications of pathogenicity

not specified
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA018761

rs_587778524

6 SubmittersRCV000121560 RCV000472209 RCV000569681 RCV003460853 RCV001588967

NM_000251.3(MSH2):c.1798G>T (p.Ala600Ser)

SNV
Germline

Chr2:47475063

Conflicting classifications of pathogenicity

not specified
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA019328

rs_587778526

7 SubmittersRCV000121563 RCV000543103 RCV003325461 RCV001804848 RCV004806069 RCV004530024

NM_000251.3(MSH2):c.2545C>G (p.Leu849Val)

SNV
Germline

Chr2:47480782

Conflicting classifications of pathogenicity

not specified
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA020700

rs_587778527

5 SubmittersRCV000121565 RCV000820212 RCV002426668 RCV002221491 RCV003997349

NM_000251.3(MSH2):c.220A>C (p.Asn74His)

SNV
Germline

Chr2:47408409

Conflicting classifications of pathogenicity

not specified
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1
Mismatch repair cancer syndrome 2
Muir-Torré syndrome
Lynch syndrome
Mismatch repair cancer syndrome 2
Lynch syndrome
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA020232

rs_150548839

14 SubmittersRCV000121566 RCV000230947 RCV000409685 RCV000571485 RCV000587188 RCV002477316 RCV003483487 RCV003997350 RCV004734660

NM_000179.3(MSH6):c.476C>T (p.Ala159Val)

SNV
Germline

Chr2:47795912

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA015692

rs_587778528

8 SubmittersRCV000121571 RCV000215694 RCV000457237 RCV000586380 RCV003997351 RCV003460854

NM_000179.3(MSH6):c.1864A>C (p.Ile622Leu)

SNV
Germline

Chr2:47799847

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA009337

rs_587778529

7 SubmittersRCV000121572 RCV000166714 RCV000791828 RCV003997352 RCV004567050

NM_000179.3(MSH6):c.1063G>A (p.Gly355Ser)

SNV
Germline

Chr2:47799046

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Lynch syndrome 5
Endometrial carcinoma
Mismatch repair cancer syndrome 1
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Malignant tumor of breast

Criteria Provided
Conflicting Classifications

CA007937

rs_587778531

13 SubmittersRCV000121578 RCV000130273 RCV000409146 RCV000515340 RCV000588001 RCV001083152 RCV001356010

NM_000179.3(MSH6):c.1730G>A (p.Arg577His)

SNV
Germline/somatic

Chr2:47799713

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch-like syndrome
Endometrial carcinoma
Lynch syndrome
Carcinoma of colon
Hereditary nonpolyposis colon cancer

Criteria Provided
Conflicting Classifications

CA009094

rs_376220212

19 SubmittersRCV000121579 RCV000131162 RCV000410866 RCV000587914 RCV000204422 RCV001249972 RCV001762265 RCV000708870 RCV001355523 RCV005438356

NM_000179.3(MSH6):c.1995G>C (p.Glu665Asp)

SNV
Germline

Chr2:47799978

Conflicting classifications of pathogenicity

not specified
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA009522

rs_587778532

7 SubmittersRCV000121580 RCV000199087 RCV000663104 RCV000774599 RCV001775599

NM_000179.3(MSH6):c.3233T>C (p.Val1078Ala)

SNV
Germline

Chr2:47803480

Conflicting classifications of pathogenicity

not specified
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 5
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA012103

rs_376452612

13 SubmittersRCV000121586 RCV000200854 RCV000214188 RCV000590417 RCV000663151 RCV003460855 RCV003997353

NM_000179.3(MSH6):c.3758T>C (p.Val1253Ala)

SNV
Germline

Chr2:47806315

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Condition: not provided
Endometrial carcinoma
Lynch syndrome
MSH6-related disorder
Lynch syndrome 5
Endometrial carcinoma
Mismatch repair cancer syndrome 3

Criteria Provided
Conflicting Classifications

CA014193

rs_202066386

16 SubmittersRCV000121589 RCV000160698 RCV000206271 RCV000411602 RCV000656902 RCV003460856 RCV003997354 RCV004739417 RCV005031625

NM_000535.7(PMS2):c.1234A>G (p.Lys412Glu)

SNV
Germline

Chr7:5987531

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 4
Mismatch repair cancer syndrome 4

Criteria Provided
Conflicting Classifications

CA009377

rs_587778616

6 SubmittersRCV000121838 RCV000218590 RCV000630224 RCV000766288 RCV002498578

NM_000535.7(PMS2):c.1708A>G (p.Asn570Asp)

SNV
Germline

Chr7:5987057

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA010119

rs_115670442

12 SubmittersRCV000121841 RCV000129033 RCV000195850 RCV001164192 RCV001719888

NM_000535.7(PMS2):c.1687C>T (p.Arg563Ter)

SNV
Germline

Chr7:5987078

Pathogenic

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Mismatch repair cancer syndrome 4
Carcinoma of colon
Lynch syndrome 4
Hereditary nonpolyposis colon cancer
Lynch syndrome
PMS2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA010032

rs_587778618

17 SubmittersRCV000132169 RCV000121846 RCV000222921 RCV000530464 RCV002483226 RCV001356008 RCV002288610 RCV003155080 RCV003997356 RCV004742269

NM_000535.7(PMS2):c.379G>A (p.Ala127Thr)

SNV
Germline/somatic

Chr7:6002611

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Lynch syndrome
Condition: not provided
Lynch syndrome 1
Lynch syndrome 4
Hereditary nonpolyposis colorectal neoplasms
PMS2-related disorder

Criteria Provided
Conflicting Classifications

CA012018

rs_114090343

18 SubmittersRCV000121857 RCV000129112 RCV000168196 RCV000590269 RCV001093698 RCV001095167 RCV001084398 RCV003945100

NM_000535.7(PMS2):c.598G>A (p.Val200Ile)

SNV
Germline

Chr7:5999215

Conflicting classifications of pathogenicity

not specified
Lynch syndrome 4
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Hereditary nonpolyposis colorectal neoplasms
Ovarian cancer
Lynch syndrome 4
Mismatch repair cancer syndrome 4

Criteria Provided
Conflicting Classifications

CA012369

rs_587778620

10 SubmittersRCV000121858 RCV000412111 RCV000570676 RCV001030724 RCV001244956 RCV003153398 RCV005042233

NM_014159.7(SETD2):c.5900G>A (p.Gly1967Asp)

SNV
Germline

Chr3:47083880

Conflicting classifications of pathogenicity

not specified
Luscan-Lumish syndrome
Condition: not provided
Inborn genetic diseases
SETD2-related disorder

Criteria Provided
Conflicting Classifications

CA162005

rs_143991928

6 SubmittersRCV000122016 RCV000652643 RCV001719891 RCV002514650 RCV004530034

NM_014159.7(SETD2):c.2155A>G (p.Asn719Asp)

SNV
Germline

Chr3:47122481

Conflicting classifications of pathogenicity

not specified
Luscan-Lumish syndrome
Condition: not provided
SETD2-related disorder

Criteria Provided
Conflicting Classifications

CA162026

rs_115859828

6 SubmittersRCV000122023 RCV000652615 RCV001705897 RCV004542917

NM_014159.7(SETD2):c.2251C>A (p.Pro751Thr)

SNV
Germline

Chr3:47122385

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Luscan-Lumish syndrome

Criteria Provided
Conflicting Classifications

CA162053

rs_115788094

4 SubmittersRCV000122032 RCV000428574 RCV001087250

NM_014159.7(SETD2):c.4262T>C (p.Leu1421Pro)

SNV
Germline

Chr3:47120374

Conflicting classifications of pathogenicity

not specified
Inborn genetic diseases
Rabin-Pappas syndrome
Intellectual developmental disorder, autosomal dominant 70
Luscan-Lumish syndrome

Criteria Provided
Conflicting Classifications

CA162113

rs_587778677

3 SubmittersRCV000122052 RCV003352775 RCV005394435

NM_000377.3(WAS):c.391G>A (p.Glu131Lys)

SNV
Germline

ChrX:48685764

Conflicting classifications of pathogenicity

not specified
X-linked severe congenital neutropenia
Wiskott-Aldrich syndrome
Thrombocytopenia 1
X-linked severe congenital neutropenia
Condition: not provided
Thrombocytopenia 1
WAS-related disorder
Wiskott-Aldrich syndrome

Criteria Provided
Conflicting Classifications

CA162684

rs_146220228

10 SubmittersRCV000122268 RCV000990810 RCV001081710 RCV000514559 RCV002280873 RCV003975089 RCV003315781

NM_000377.3(WAS):c.413G>A (p.Arg138Gln)

SNV
Germline

ChrX:48685786

Conflicting classifications of pathogenicity

not specified
Wiskott-Aldrich syndrome
Thrombocytopenia 1
X-linked severe congenital neutropenia
Wiskott-Aldrich syndrome
Condition: not provided
WAS-related disorder

Criteria Provided
Conflicting Classifications

CA162686

rs_139265251

5 SubmittersRCV000122269 RCV000862741 RCV001261849 RCV003436938 RCV004748589

NM_000553.6(WRN):c.2937T>G (p.Ile979Met)

SNV
Germline

Chr8:31132476

Conflicting classifications of pathogenicity

not specified
Werner syndrome
Wiskott-Aldrich syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA162722

rs_147802438

6 SubmittersRCV000122281 RCV000233425 RCV003315783 RCV004721269

NM_000553.6(WRN):c.107G>A (p.Arg36Gln)

SNV
Germline

Chr8:31059163

Conflicting classifications of pathogenicity

not specified
Werner syndrome
Condition: not provided
WRN-related disorder
Wiskott-Aldrich syndrome

Criteria Provided
Conflicting Classifications

CA162746

rs_34084741

6 SubmittersRCV000122289 RCV001085837 RCV000733018 RCV003925216 RCV003315785

NM_000553.6(WRN):c.4216C>T (p.Arg1406Ter)

SNV
Germline

Chr8:31173019

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Werner syndrome
Wiskott-Aldrich syndrome

Criteria Provided
Conflicting Classifications

CA162779

rs_11574410

10 SubmittersRCV000122300 RCV001785472 RCV000988046 RCV003315787

NM_024426.6(WT1):c.760C>T (p.Pro254Ser)

SNV
Germline

Chr11:32428521

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Frasier syndrome
Drash syndrome
Wilms tumor 1
11p partial monosomy syndrome
Wilms tumor 1
Nephrotic syndrome, type 4
Meacham syndrome
Microscopic hematuria
Hereditary cancer-predisposing syndrome
WT1-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA016444

rs_2234584

16 SubmittersRCV000122310 RCV000782221 RCV001081231 RCV001107940 RCV001107942 RCV001107941 RCV002284191 RCV002255305 RCV004551194 RCV004965276

NM_024426.6(WT1):c.1154G>A (p.Arg385Gln)

SNV
Germline

Chr11:32396367

Conflicting classifications of pathogenicity

not specified
Nephrotic syndrome, type 4
Frasier syndrome
Drash syndrome
Wilms tumor 1
11p partial monosomy syndrome
Meacham syndrome
Wilms tumor 1
Drash syndrome
Inborn genetic diseases
6 conditions

Criteria Provided
Conflicting Classifications

CA016505

rs_147241955

7 SubmittersRCV000122313 RCV001107196 RCV000231832 RCV001107195 RCV001107197 RCV003460864 RCV004965277 RCV005049425

NM_000179.3(MSH6):c.1449G>T (p.Val483=)

SNV
Germline

Chr2:47799432

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome 5
Condition: not provided
Malignant tumor of breast
Hereditary nonpolyposis colorectal neoplasms
Breast and/or ovarian cancer
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA008638

rs_35590297

24 SubmittersRCV000126826 RCV000202140 RCV000600196 RCV000679214 RCV001356260 RCV001084470 RCV001798401 RCV003997396

NM_000179.3(MSH6):c.1599G>C (p.Glu533Asp)

SNV
Germline

Chr2:47799582

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
not specified
Endometrial carcinoma
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA008846

rs_373726731

14 SubmittersRCV000122952 RCV000219239 RCV000218729 RCV000524115 RCV000411179 RCV000780476 RCV003460868 RCV003492534

NM_000179.3(MSH6):c.2384T>C (p.Ile795Thr)

SNV
Germline

Chr2:47800367

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Endometrial carcinoma
Breast and/or ovarian cancer
not specified

Criteria Provided
Conflicting Classifications

CA010164

rs_202127474

17 SubmittersRCV000160681 RCV000588994 RCV000172814 RCV000412250 RCV001084037 RCV005359159 RCV003149835 RCV003493450

NM_000179.3(MSH6):c.3151G>A (p.Val1051Ile)

SNV
Germline

Chr2:47801134

Conflicting classifications of pathogenicity

Lynch syndrome 5
Hereditary breast ovarian cancer syndrome
Hereditary nonpolyposis colorectal neoplasms
Carcinoma of colon
Hereditary cancer-predisposing syndrome
Condition: not provided
MSH6-related disorder
not specified
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA011639

rs_576269342

15 SubmittersRCV000408980 RCV001030498 RCV001257068 RCV001355067 RCV000132157 RCV000588824 RCV004528840 RCV001796965 RCV003492535

NM_000179.3(MSH6):c.3259C>G (p.Pro1087Ala)

SNV
Germline

Chr2:47803506

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Condition: not provided
Malignant tumor of breast
not specified
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA012231

rs_63750998

15 SubmittersRCV000122963 RCV000128933 RCV000411062 RCV000587527 RCV001354177 RCV001255217 RCV003149837

NM_000179.3(MSH6):c.628-7C>A

SNV
Germline

Chr2:47798604

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Malignant tumor of breast
not specified

Criteria Provided
Conflicting Classifications

CA016029

rs_373129248

16 SubmittersRCV000580986 RCV000411528 RCV001080866 RCV000588337 RCV001356719 RCV001818293

NM_000249.4(MLH1):c.42A>C (p.Thr14=)

SNV
Germline

Chr3:36993589

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Malignant tumor of breast
not specified
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
MLH1-related disorder
Breast and/or ovarian cancer
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA010370

rs_369737664

14 SubmittersRCV000126779 RCV001358331 RCV000212511 RCV001081345 RCV000585926 RCV001147828 RCV003975092 RCV003492536 RCV003997404

NM_000251.3(MSH2):c.166G>A (p.Glu56Lys)

SNV
Germline

Chr2:47403357

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
not specified
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Mismatch repair cancer syndrome 2
Muir-Torré syndrome
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA018954

rs_587779102

9 SubmittersRCV000122982 RCV000657006 RCV000235661 RCV000580136 RCV002477321 RCV003460870 RCV003997405

NM_000251.3(MSH2):c.1986G>C (p.Gln662His)

SNV
Germline

Chr2:47475251

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA019664

rs_587780685

5 SubmittersRCV000122984 RCV001013915 RCV003997406 RCV005243121

NM_000251.3(MSH2):c.2615A>G (p.Lys872Arg)

SNV
Germline

Chr2:47480852

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome 1
Lynch syndrome
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA020814

rs_587780686

8 SubmittersRCV000122987 RCV000563636 RCV002469017 RCV000411448 RCV003997407 RCV003149838

NM_000251.3(MSH2):c.2717T>C (p.Ile906Thr)

SNV
Germline

Chr2:47482861

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Lynch syndrome
Hereditary cancer
Condition: not provided
See cases
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA020898

rs_587780687

11 SubmittersRCV000122988 RCV000412095 RCV000573859 RCV003997408 RCV004700429 RCV001558333 RCV002251992 RCV004542928

NM_000251.3(MSH2):c.336C>A (p.Ser112=)

SNV
Germline

Chr2:47408525

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome 1
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Muir-Torré syndrome
Mismatch repair cancer syndrome 2
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA021025

rs_34312619

12 SubmittersRCV000163093 RCV000420474 RCV000662370 RCV000590813 RCV001082839 RCV003997409 RCV005394440

NM_000251.3(MSH2):c.819A>G (p.Val273=)

SNV
Germline

Chr2:47414295

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Mismatch repair cancer syndrome 2
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA022370

rs_146577635

14 SubmittersRCV000160641 RCV000212592 RCV000586418 RCV001139365 RCV001082291 RCV005394441

NM_000251.3(MSH2):c.835C>G (p.Leu279Val)

SNV
Germline

Chr2:47414311

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA022395

rs_375351205

14 SubmittersRCV000122993 RCV000237042 RCV000131260 RCV000656875 RCV000409770 RCV003997410

NM_000535.7(PMS2):c.1357A>G (p.Met453Val)

SNV
Germline

Chr7:5987408

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome
Mismatch repair cancer syndrome 4
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA009542

rs_587780722

7 SubmittersRCV000123075 RCV000572231 RCV002466437 RCV003997413 RCV005429002

NM_000535.7(PMS2):c.1420G>T (p.Ala474Ser)

SNV
Germline

Chr7:5987345

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Condition: not provided
Breast and/or ovarian cancer
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA009651

rs_373114291

12 SubmittersRCV000123078 RCV000131575 RCV001775084 RCV000479914 RCV003149840 RCV001824617 RCV003997415

NM_000535.7(PMS2):c.1556A>G (p.Tyr519Cys)

SNV
Germline

Chr7:5987209

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 4
Mismatch repair cancer syndrome 1
Lynch syndrome 4
Hereditary nonpolyposis colorectal neoplasms
not specified
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA009843

rs_63750649

16 SubmittersRCV000132386 RCV000483157 RCV000410304 RCV000515260 RCV001085962 RCV000780619 RCV001798404

NM_000535.7(PMS2):c.1936A>C (p.Arg646=)

SNV
Germline

Chr7:5986829

Conflicting classifications of pathogenicity

Lynch syndrome 4
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA010496

rs_369582237

11 SubmittersRCV000123084 RCV000163542 RCV000418482 RCV000679354 RCV001085291 RCV003997417

NM_000535.7(PMS2):c.383C>T (p.Ser128Leu)

SNV
Germline/somatic

Chr7:6002607

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Lynch syndrome
Lynch syndrome 1
Lynch syndrome 4
Malignant tumor of breast
Hereditary nonpolyposis colorectal neoplasms
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA012032

rs_116373169

22 SubmittersRCV000128980 RCV000587673 RCV000200993 RCV000758689 RCV001093681 RCV000662720 RCV001356925 RCV001084082 RCV003492544

NM_000535.7(PMS2):c.497T>C (p.Leu166Pro)

SNV
Germline

Chr7:6002493

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
not specified
PMS2-related disorder
Hereditary cancer
Lynch syndrome 4
Mismatch repair cancer syndrome 4
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA012179

rs_116349687

13 SubmittersRCV000129051 RCV001080227 RCV000587642 RCV001175360 RCV004742270 RCV003492545 RCV005394449 RCV005420556

NM_000535.7(PMS2):c.830C>A (p.Thr277Lys)

SNV
Germline

Chr7:5995607

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Breast and/or ovarian cancer
Mismatch repair cancer syndrome 4
Lynch syndrome
Lynch syndrome 4
not specified

Criteria Provided
Conflicting Classifications

CA012968

rs_1805322

19 SubmittersRCV000128979 RCV000586384 RCV001082886 RCV003492546 RCV003989321 RCV004806074 RCV005425730 RCV001818294

NM_000535.7(PMS2):c.883C>T (p.Arg295Trp)

SNV
Germline

Chr7:5995554

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Lynch syndrome
Mismatch repair cancer syndrome 4
Lynch syndrome
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA013151

rs_182246929

10 SubmittersRCV000123094 RCV000165443 RCV000487208 RCV002267863 RCV003997419 RCV003483489 RCV003460871

NM_002354.3(EPCAM):c.319G>A (p.Ala107Thr)

SNV
Germline

Chr2:47373942

Conflicting classifications of pathogenicity

Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA332770

rs_587780765

3 SubmittersRCV000123187 RCV002274917 RCV002321607

NM_001303.4(COX10):c.929-7C>T

SNV
Germline

Chr17:14206803

Conflicting classifications of pathogenicity

Leigh syndrome
Mitochondrial complex IV deficiency, nuclear type 1
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA203461

rs_62052075

8 SubmittersRCV000265719 RCV000361435 RCV000179820 RCV000676610

NM_001303.4(COX10):c.981C>T (p.Asn327=)

SNV
Germline

Chr17:14206862

Conflicting classifications of pathogenicity

not specified
Mitochondrial complex IV deficiency, nuclear type 1
Condition: not provided
Leigh syndrome

Criteria Provided
Conflicting Classifications

CA290460

rs_146175179

5 SubmittersRCV000124565 RCV000302186 RCV000513362 RCV000366250

NM_001303.4(COX10):c.1096G>T (p.Val366Leu)

SNV
Germline

Chr17:14206977

Conflicting classifications of pathogenicity

not specified
Leigh syndrome
Mitochondrial complex IV deficiency, nuclear type 1
Mitochondrial complex IV deficiency, nuclear type 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA290464

rs_111541535

5 SubmittersRCV000124567 RCV001127831 RCV001127832 RCV001802947 RCV000961080

NM_001303.4(COX10):c.302C>T (p.Pro101Leu)

SNV
Germline

Chr17:14076859

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Mitochondrial complex IV deficiency, nuclear type 1
Leigh syndrome

Criteria Provided
Conflicting Classifications

CA290476

rs_145948285

3 SubmittersRCV000124573 RCV000975987 RCV001127735 RCV001127736

NM_001303.4(COX10):c.682C>T (p.Arg228Cys)

SNV
Germline

Chr17:14159934

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Mitochondrial complex IV deficiency, nuclear type 1
Leigh syndrome

Criteria Provided
Conflicting Classifications

CA290480

rs_114521946

5 SubmittersRCV000124575 RCV000223992 RCV001124729 RCV001124728

NM_078470.6(COX15):c.-23G>T

SNV
Germline

Chr10:99732072

Conflicting classifications of pathogenicity

not specified
Leigh syndrome

Criteria Provided
Conflicting Classifications

CA290482

rs_2231678

2 SubmittersRCV000124576 RCV001103675

NM_078470.6(COX15):c.988-8C>A

SNV
Germline

Chr10:99716469

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Leigh syndrome

Criteria Provided
Conflicting Classifications

CA290484

rs_542092025

4 SubmittersRCV000124578 RCV000426006 RCV001106672

NM_000108.5(DLD):c.543A>T (p.Ile181=)

SNV
Germline

Chr7:107905465

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Pyruvate dehydrogenase complex deficiency
Pyruvate dehydrogenase E3 deficiency
Leigh syndrome

Criteria Provided
Conflicting Classifications

CA303053

rs_61749952

12 SubmittersRCV000179714 RCV000676800 RCV000388010 RCV000999887 RCV000261104

NM_000251.3(MSH2):c.1560A>G (p.Gly520=)

SNV
Germline

Chr2:47466707

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Condition: not provided
MSH2-related disorder
Malignant tumor of breast
Lynch syndrome
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA018604

rs_63750820

16 SubmittersRCV000126813 RCV000212603 RCV000524346 RCV000662509 RCV001815198 RCV004532521 RCV001356577 RCV003997440 RCV003492569

NM_000251.3(MSH2):c.2205C>T (p.Ile735=)

SNV
Germline

Chr2:47476566

Conflicting classifications of pathogenicity

not specified
Lynch syndrome 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA020227

rs_533553381

17 SubmittersRCV000212617 RCV000409899 RCV000590738 RCV000126821 RCV001083829 RCV000323210 RCV003149864

NM_000179.3(MSH6):c.1665A>G (p.Ala555=)

SNV
Germline

Chr2:47799648

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 5
not specified
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA009022

rs_146785465

18 SubmittersRCV000126827 RCV000586048 RCV000662603 RCV000212650 RCV001084346 RCV003997443 RCV003492571

NM_004544.4(NDUFA10):c.548-9A>G

SNV
Germline

Chr2:240014869

Conflicting classifications of pathogenicity

not specified
Mitochondrial complex I deficiency, nuclear type 1
Leigh syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA292420

rs_147876332

4 SubmittersRCV000127100 RCV000275112 RCV000355965 RCV000676557

NM_005006.7(NDUFS1):c.421-7A>G

SNV
Germline

Chr2:206147668

Conflicting classifications of pathogenicity

not specified
Leigh syndrome
Condition: not provided
Mitochondrial complex I deficiency, nuclear type 1
NDUFS1-related disorder

Criteria Provided
Conflicting Classifications

CA292482

rs_192949406

6 SubmittersRCV000127139 RCV000296747 RCV000888456 RCV000388644 RCV004752752

NM_005006.7(NDUFS1):c.1291C>G (p.Leu431Val)

SNV
Germline

Chr2:206138586

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Mitochondrial complex I deficiency
Mitochondrial complex I deficiency, nuclear type 1
Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 5
NDUFS1-related disorder

Criteria Provided
Conflicting Classifications

CA232547

rs_78042826

12 SubmittersRCV000195297 RCV000513877 RCV000605317 RCV001143218 RCV001143217 RCV001282631 RCV003925255

NM_005006.7(NDUFS1):c.1371G>A (p.Ser457=)

SNV
Germline

Chr2:206138506

Conflicting classifications of pathogenicity

not specified
Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 1
Mitochondrial complex I deficiency, nuclear type 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA292489

rs_2230892

6 SubmittersRCV000127145 RCV000298259 RCV000399898 RCV001000338 RCV000676270

NM_004551.3(NDUFS3):c.591T>C (p.Pro197=)

SNV
Germline

Chr11:47582432

Conflicting classifications of pathogenicity

not specified
Mitochondrial complex I deficiency, nuclear type 1
Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 8
Condition: not provided

Criteria Provided
Conflicting Classifications

CA292502

rs_77113494

7 SubmittersRCV000127155 RCV001107482 RCV001107483 RCV001000472 RCV000969794

NM_004551.3(NDUFS3):c.628-7C>T

SNV
Germline

Chr11:47584307

Conflicting classifications of pathogenicity

Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 1
not specified
Condition: not provided
Mitochondrial complex I deficiency, nuclear type 8
NDUFS3-related disorder

Criteria Provided
Conflicting Classifications

CA292504

rs_11039306

6 SubmittersRCV000292090 RCV000383892 RCV000127156 RCV000964320 RCV003114278 RCV004734666

NM_002495.4(NDUFS4):c.102G>A (p.Ser34=)

SNV
Germline

Chr5:53603455

Conflicting classifications of pathogenicity

not specified
Mitochondrial complex I deficiency, nuclear type 1
Leigh syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA292505

rs_138941073

3 SubmittersRCV000127157 RCV000280441 RCV000386502 RCV000905987

NM_024407.5(NDUFS7):c.153C>T (p.Ala51=)

SNV
Germline

Chr19:1388863

Conflicting classifications of pathogenicity

not specified
Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA292511

rs_140236960

6 SubmittersRCV000127162 RCV000365710 RCV000301558 RCV000885712

NM_007103.4(NDUFV1):c.72+15G>T

SNV
Germline

Chr11:67607091

Conflicting classifications of pathogenicity

not specified
Mitochondrial complex I deficiency, nuclear type 1
Leigh syndrome
Condition: not provided
NDUFV1-related disorder

Criteria Provided
Conflicting Classifications

CA292522

rs_187400726

4 SubmittersRCV000127169 RCV000315626 RCV000372683 RCV002055710 RCV004532524

NM_000535.7(PMS2):c.988+11T>C

SNV
Germline

Chr7:5991962

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Hereditary nonpolyposis colorectal neoplasms
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA013404

rs_139969671

9 SubmittersRCV000127458 RCV000579510 RCV001164299 RCV002055749 RCV003492573

NM_000535.7(PMS2):c.1560G>A (p.Ala520=)

SNV
Germline

Chr7:5987205

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast and/or ovarian cancer
Lynch syndrome 4
Hereditary nonpolyposis colorectal neoplasms
Malignant tumor of breast
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA009868

rs_201167814

21 SubmittersRCV000127461 RCV000162432 RCV000487654 RCV001798425 RCV001159293 RCV001079708 RCV001357279 RCV003997451

NM_000535.7(PMS2):c.2187C>G (p.Leu729=)

SNV
Germline

Chr7:5978684

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Lynch syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Malignant tumor of breast
Lynch syndrome 4
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA011039

rs_373630535

20 SubmittersRCV000127465 RCV000162439 RCV000197459 RCV000590780 RCV001079494 RCV001355979 RCV000662897 RCV001798426

NM_004589.4(SCO1):c.16C>G (p.Leu6Val)

SNV
Germline

Chr17:10697492

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Mitochondrial complex IV deficiency, nuclear type 1
Leigh syndrome

Criteria Provided
Conflicting Classifications

CA293431

rs_61753148

8 SubmittersRCV000128008 RCV000224328 RCV000273401 RCV000330754

NM_003172.4(SURF1):c.604G>C (p.Asp202His)

SNV
Germline

Chr9:133352593

Conflicting classifications of pathogenicity

not specified
Leigh syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA293830

rs_72619327

5 SubmittersRCV000128342 RCV000394086 RCV000999265

NM_003172.4(SURF1):c.54+10G>A

SNV
Germline

Chr9:133356390

Conflicting classifications of pathogenicity

not specified
Leigh syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA293839

rs_587598397

6 SubmittersRCV000128346 RCV000329138 RCV000676736

NM_022552.5(DNMT3A):c.1943T>C (p.Leu648Pro)

SNV
Germline

Chr2:25241701

Pathogenic

Tatton-Brown-Rahman overgrowth syndrome

No Assertion Criteria Provided

CA163308

rs_587777507

1 SubmittersRCV000128559

NM_022552.5(DNMT3A):c.929T>A (p.Ile310Asn)

SNV
Germline

Chr2:25247676

Pathogenic

Tatton-Brown-Rahman overgrowth syndrome

No Assertion Criteria Provided

CA163314

rs_587777508

1 SubmittersRCV000128560

NM_022552.5(DNMT3A):c.1643T>A (p.Met548Lys)

SNV
Germline

Chr2:25244564

Pathogenic

Tatton-Brown-Rahman overgrowth syndrome

No Assertion Criteria Provided

CA163320

rs_587777509

1 SubmittersRCV000128561

NM_022552.5(DNMT3A):c.2705T>C (p.Phe902Ser)

SNV
Germline

Chr2:25234313

Pathogenic

Tatton-Brown-Rahman overgrowth syndrome

No Assertion Criteria Provided

CA163326

rs_587777510

1 SubmittersRCV000128562

NM_000249.4(MLH1):c.1154G>A (p.Arg385His)

SNV
Germline/somatic

Chr3:37025752

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colorectal neoplasms
not specified
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch-like syndrome
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA004510

rs_63750430

17 SubmittersRCV000128876 RCV000409286 RCV000232561 RCV000484459 RCV000764490 RCV001249936 RCV000657135 RCV003997466

NM_000179.3(MSH6):c.107C>T (p.Ala36Val)

SNV
Germline

Chr2:47783340

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Endometrial carcinoma
Lynch syndrome 5
Ovarian cancer
MSH6-related disorder
Breast and/or ovarian cancer
Hereditary nonpolyposis colon cancer

Criteria Provided
Conflicting Classifications

CA007963

rs_61756469

18 SubmittersRCV000226897 RCV000220784 RCV000128922 RCV000780475 RCV001356921 RCV000412094 RCV003153411 RCV004532539 RCV003149883 RCV003323293

NM_000179.3(MSH6):c.749T>C (p.Val250Ala)

SNV
Germline

Chr2:47798732

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome
Condition: not provided
Lynch syndrome 5
Endometrial carcinoma
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA016410

rs_587781275

16 SubmittersRCV000128926 RCV000168003 RCV000202238 RCV000761137 RCV000656890 RCV000410809 RCV003467099 RCV003492580

NM_000251.3(MSH2):c.775C>T (p.Pro259Ser)

SNV
Germline

Chr2:47412543

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Malignant tumor of breast
Lynch syndrome 1
Lynch syndrome
MSH2-related disorder
Lynch syndrome 1
Mismatch repair cancer syndrome 2
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA022230

rs_587781294

14 SubmittersRCV000235651 RCV000128997 RCV000228319 RCV000759122 RCV001269353 RCV003333736 RCV003997470 RCV004532540 RCV005025205

NM_000179.3(MSH6):c.2591G>A (p.Gly864Glu)

SNV
Germline

Chr2:47800574

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA010461

rs_587781306

5 SubmittersRCV000129021 RCV000557524 RCV003997471 RCV004998252

NM_000535.7(PMS2):c.-7T>C

SNV
Germline

Chr7:6009026

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Hereditary nonpolyposis colorectal neoplasms
not specified
Malignant tumor of breast
Condition: not provided
PMS2-related disorder
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA012861

rs_199660792

11 SubmittersRCV000129024 RCV000293218 RCV002514707 RCV000254679 RCV001356694 RCV003477536 RCV003905226 RCV003492582

NM_000179.3(MSH6):c.2281A>G (p.Arg761Gly)

SNV
Germline

Chr2:47800264

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Condition: not provided
Lynch syndrome 5
Lynch syndrome
Mismatch repair cancer syndrome 3
Endometrial carcinoma
Lynch syndrome 5
Endometrial carcinoma
Inherited polyposis and early onset colorectal cancer - germline testing

Criteria Provided
Conflicting Classifications

CA009950

rs_199876321

19 SubmittersRCV000129031 RCV000195792 RCV001002443 RCV000657020 RCV000662484 RCV003997472 RCV005394467 RCV003460882 RCV004808591

NM_000249.4(MLH1):c.2060G>A (p.Arg687Gln)

SNV
Germline

Chr3:37048974

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA008356

rs_587781310

8 SubmittersRCV000129035 RCV000168237 RCV001578234 RCV002291567 RCV003997473

NM_000251.3(MSH2):c.1462T>G (p.Leu488Val)

SNV
Germline

Chr2:47463106

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA018364

rs_587781314

12 SubmittersRCV000129044 RCV000199801 RCV000662760 RCV000656877 RCV003997475

NM_000535.7(PMS2):c.2095G>C (p.Asp699His)

SNV
Germline

Chr7:5982903

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
PMS2-related disorder
Hereditary nonpolyposis colon cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA010800

rs_587781317

10 SubmittersRCV000129052 RCV000214144 RCV000234750 RCV003453059 RCV004742273 RCV003389702

NM_000179.3(MSH6):c.2776C>T (p.Leu926Phe)

SNV
Germline

Chr2:47800759

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA010886

rs_587781318

7 SubmittersRCV000205831 RCV000129055 RCV000212670 RCV003398753 RCV003997476

NM_000251.3(MSH2):c.1347G>C (p.Lys449Asn)

SNV
Germline

Chr2:47445618

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Lynch syndrome 1
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA018049

rs_587781331

9 SubmittersRCV000129078 RCV000524342 RCV000210120 RCV000662718 RCV000482497 RCV000781551

NM_000179.3(MSH6):c.3725G>A (p.Arg1242His)

SNV
Germline

Chr2:47806282

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer
Condition: not provided
Lynch syndrome 5
Lynch syndrome
Lynch syndrome 5
Endometrial carcinoma
Endometrial carcinoma
Mismatch repair cancer syndrome 3
Lynch syndrome 5
Endometrial carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA014077

rs_63750119

16 SubmittersRCV000129081 RCV001034637 RCV000230170 RCV000485282 RCV000663091 RCV003997478 RCV005359196 RCV003460886 RCV005025206

NM_000535.7(PMS2):c.904-2A>G

SNV
Germline

Chr7:5992059

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Mismatch repair cancer syndrome 4
Lynch syndrome 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA013226

rs_587781339

9 SubmittersRCV000129110 RCV000206112 RCV000576592 RCV002492494 RCV002465529

NM_000249.4(MLH1):c.2131T>C (p.Ser711Pro)

SNV
Germline

Chr3:37050513

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA008808

rs_587781342

6 SubmittersRCV000129119 RCV000823517 RCV001800424 RCV004567078 RCV003997480

NM_000251.3(MSH2):c.1429A>C (p.Asn477His)

SNV
Germline

Chr2:47463073

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA018266

rs_587781346

9 SubmittersRCV000129124 RCV000210186 RCV000688403 RCV003477537 RCV005406835

NM_000179.3(MSH6):c.2482G>A (p.Val828Ile)

SNV
Germline

Chr2:47800465

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
not specified
Lynch syndrome
MSH6-related disorder

Criteria Provided
Conflicting Classifications

CA010298

rs_587781349

7 SubmittersRCV000226891 RCV000129131 RCV001140447 RCV004700437 RCV003997483 RCV004532546

NM_000179.3(MSH6):c.2932C>T (p.Gln978Ter)

SNV
Germline

Chr2:47800915

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA011127

rs_587781372

7 SubmittersRCV000129185 RCV000202022 RCV001849919 RCV003453060

NM_000535.7(PMS2):c.1288A>G (p.Thr430Ala)

SNV
Germline

Chr7:5987477

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
not specified
Lynch syndrome
Mismatch repair cancer syndrome 4
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA009484

rs_587781382

8 SubmittersRCV000129211 RCV000232320 RCV000486562 RCV003235051 RCV003997486 RCV005042246

NM_000179.3(MSH6):c.4061T>C (p.Leu1354Pro)

SNV
Germline

Chr2:47806838

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA015365

rs_267608140

6 SubmittersRCV000129223 RCV000204246 RCV001775618 RCV003997487 RCV004567081

NM_000251.3(MSH2):c.260C>G (p.Ser87Cys)

SNV
Germline

Chr2:47408449

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA020808

rs_587781447

8 SubmittersRCV000129363 RCV000212581 RCV000233259 RCV000662735 RCV003997495

NM_000251.3(MSH2):c.2556G>C (p.Glu852Asp)

SNV
Germline

Chr2:47480793

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
not specified
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA020728

rs_587781453

11 SubmittersRCV000129378 RCV000410280 RCV000480490 RCV000532767 RCV000767208 RCV003997498

NM_000179.3(MSH6):c.2300C>T (p.Thr767Ile)

SNV
Germline

Chr2:47800283

Pathogenic

not specified
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colon cancer
Carcinoma of colon
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Rhabdomyosarcoma
Lynch syndrome 5
Condition: not provided

Reviewed By Expert Panel

CA009983

rs_587781462

12 SubmittersRCV000501569 RCV000129397 RCV001251301 RCV001353758 RCV000477388 RCV000622945 RCV001257543 RCV000410431 RCV004719708

NM_000251.2(MSH2):c.-73G>A

SNV
Germline

Chr2:47403119

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
not specified
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA021953

rs_552303079

4 SubmittersRCV000129430 RCV000364089 RCV000507430 RCV004532552

NM_000179.3(MSH6):c.3600A>G (p.Ile1200Met)

SNV
Germline

Chr2:47805661

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
not specified
Endometrial carcinoma
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA013491

rs_587781482

9 SubmittersRCV000129441 RCV000412406 RCV000539721 RCV000478382 RCV004567084 RCV000766608 RCV003997501

NM_000249.4(MLH1):c.704A>T (p.Asp235Val)

SNV
Germline

Chr3:37014458

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
Ovarian cancer
Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA011774

rs_587781505

12 SubmittersRCV000129480 RCV000529021 RCV001030626 RCV002285268 RCV001290582 RCV003153416 RCV003997505 RCV005420563 RCV005359205

NM_000249.4(MLH1):c.622C>T (p.Pro208Ser)

SNV
Germline

Chr3:37012044

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
not specified
Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Conflicting Classifications

CA011264

rs_587781509

9 SubmittersRCV000129486 RCV000204556 RCV000212523 RCV001260299 RCV003997506 RCV005620905

NM_000179.3(MSH6):c.905G>C (p.Arg302Thr)

SNV
Germline

Chr2:47798888

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Condition: not provided
Lynch syndrome 5
Lynch syndrome
Mismatch repair cancer syndrome 3

Criteria Provided
Conflicting Classifications

CA016638

rs_587781510

13 SubmittersRCV000129487 RCV000168210 RCV000216085 RCV000589579 RCV000662957 RCV000708859 RCV005365018

NM_000249.4(MLH1):c.207+5G>C

SNV
Germline

Chr3:36996714

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA008462

rs_587781518

3 SubmittersRCV000129504 RCV000491027

NM_000251.2(MSH2):c.-68G>A

SNV
Germline

Chr2:47403124

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA022022

rs_576303132

4 SubmittersRCV000129527 RCV000986640

NM_000179.3(MSH6):c.3604A>G (p.Met1202Val)

SNV
Germline

Chr2:47805665

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Lynch syndrome
not specified

Criteria Provided
Conflicting Classifications

CA013509

rs_369778514

9 SubmittersRCV000129582 RCV000411815 RCV000479516 RCV000810760 RCV003460896 RCV003997512 RCV000780465

NM_000179.3(MSH6):c.3155A>G (p.Glu1052Gly)

SNV
Germline

Chr2:47801138

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA011668

rs_587781568

4 SubmittersRCV000129593 RCV000705750 RCV001293976 RCV003460897

NM_000179.3(MSH6):c.3026A>T (p.Lys1009Ile)

SNV
Germline

Chr2:47801009

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Malignant tumor of breast
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA011400

rs_587781593

10 SubmittersRCV000129648 RCV000480608 RCV000459156 RCV003315879 RCV001354619 RCV003997514 RCV004567091

NM_004168.4(SDHA):c.969C>T (p.Gly323=)

SNV
Germline

Chr5:233550

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Mitochondrial complex II deficiency, nuclear type 1
Pheochromocytoma/paraganglioma syndrome 5
not specified
Mitochondrial complex II deficiency, nuclear type 1
Leigh syndrome
Pheochromocytoma/paraganglioma syndrome 5
Hereditary pheochromocytoma-paraganglioma
Condition: not provided

Criteria Provided
Conflicting Classifications

CA345710

rs_142849100

16 SubmittersRCV000129664 RCV000203785 RCV000246464 RCV000314076 RCV000362684 RCV003315880 RCV000399972 RCV001357190

NM_000179.3(MSH6):c.*1A>G

SNV
Germline

Chr2:47806861

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA009540

rs_587781604

8 SubmittersRCV000129679 RCV000659885 RCV000679211 RCV003997516

NM_000179.3(MSH6):c.1814C>G (p.Thr605Ser)

SNV
Germline

Chr2:47799797

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Mismatch repair cancer syndrome 1
Lynch syndrome 5
Endometrial carcinoma
Condition: not provided
Endometrial carcinoma
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA009251

rs_587781616

13 SubmittersRCV000200701 RCV000129705 RCV000708871 RCV000765684 RCV000587763 RCV004567094 RCV005600714

NM_000251.3(MSH2):c.1071G>C (p.Glu357Asp)

SNV
Germline

Chr2:47416424

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA017034

rs_587781617

3 SubmittersRCV000129706 RCV001065111 RCV003997517

NM_000179.3(MSH6):c.3299C>G (p.Thr1100Arg)

SNV
Germline

Chr2:47803546

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA012463

rs_63750442

6 SubmittersRCV000129716 RCV000222346 RCV001089139 RCV003997519

NM_000251.3(MSH2):c.1360A>G (p.Ile454Val)

SNV
Germline

Chr2:47445631

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome
not specified
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA018091

rs_587781627

9 SubmittersRCV000129729 RCV000588274 RCV000761179 RCV002267870 RCV000460057

NM_000535.7(PMS2):c.2465T>C (p.Leu822Pro)

SNV
Germline

Chr7:5973523

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA011547

rs_587781636

2 SubmittersRCV000129748 RCV003453067

NM_000179.3(MSH6):c.2906A>T (p.Tyr969Phe)

SNV
Germline

Chr2:47800889

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 5
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA011081

rs_63749919

7 SubmittersRCV000129763 RCV000204094 RCV002288628 RCV000410024 RCV003997522

NM_000179.3(MSH6):c.3244C>T (p.Pro1082Ser)

SNV
Germline

Chr2:47803491

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome 5
Ovarian cancer
Lynch syndrome
Lynch syndrome 5
Endometrial carcinoma
Mismatch repair cancer syndrome 1
Condition: not provided
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA012124

rs_186240214

11 SubmittersRCV000129766 RCV000464994 RCV001175358 RCV000409325 RCV003153418 RCV003997523 RCV000515187 RCV000586138 RCV003467119

NM_000179.3(MSH6):c.4004A>C (p.Glu1335Ala)

SNV
Germline

Chr2:47806781

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Condition: not provided
Endometrial carcinoma
not specified
MSH6-related disorder

Criteria Provided
Conflicting Classifications

CA015298

rs_564434147

15 SubmittersRCV000129804 RCV000204360 RCV000409369 RCV000656905 RCV003467121 RCV001375525 RCV004532553

NM_000179.3(MSH6):c.3111C>A (p.Phe1037Leu)

SNV
Germline

Chr2:47801094

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 5
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA011575

rs_587781673

6 SubmittersRCV000129832 RCV001298939 RCV000221076 RCV000410297 RCV003997528

NM_000251.3(MSH2):c.2439G>A (p.Met813Ile)

SNV
Germline

Chr2:47478500

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1
MSH2-related disorder
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA020596

rs_587781678

9 SubmittersRCV000129838 RCV000168339 RCV000482932 RCV003335115 RCV004532554 RCV003997529

NM_000179.3(MSH6):c.3557G>A (p.Gly1186Asp)

SNV
Germline

Chr2:47805618

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Mismatch repair cancer syndrome 1
Lynch syndrome 5
Endometrial carcinoma
not specified
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA013435

rs_587781690

12 SubmittersRCV000129855 RCV000206364 RCV000764433 RCV003460903 RCV000485699 RCV000657043 RCV003997530

NM_000535.7(PMS2):c.1688G>A (p.Arg563Gln)

SNV
Germline

Chr7:5987077

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Lynch syndrome 4
Hereditary nonpolyposis colorectal neoplasms
Mismatch repair cancer syndrome 4

Criteria Provided
Conflicting Classifications

CA010059

rs_63750668

13 SubmittersRCV000129896 RCV001193855 RCV000478617 RCV000662634 RCV001081618 RCV005359218

NM_000251.3(MSH2):c.698C>G (p.Ser233Cys)

SNV
Germline

Chr2:47412466

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA022041

rs_587781724

8 SubmittersRCV000129911 RCV000465942 RCV001551502 RCV003460906 RCV003997535

NM_000179.3(MSH6):c.2226C>G (p.Asn742Lys)

SNV
Germline

Chr2:47800209

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
Endometrial carcinoma
Mismatch repair cancer syndrome 3
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA009877

rs_587781739

7 SubmittersRCV000129942 RCV000693873 RCV001030494 RCV001552395 RCV004782244 RCV005025211

NM_000179.3(MSH6):c.2855T>C (p.Leu952Pro)

SNV
Germline

Chr2:47800838

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA011015

rs_587781743

5 SubmittersRCV000129947 RCV000502711 RCV000629697 RCV001582602 RCV003997536

NM_000249.4(MLH1):c.1007G>A (p.Gly336Asp)

SNV
Germline

Chr3:37020432

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Condition: not provided
Lynch syndrome
not specified

Criteria Provided
Conflicting Classifications

CA004033

rs_587781750

10 SubmittersRCV000129956 RCV000196459 RCV000411750 RCV001568035 RCV003997537 RCV003226208

NM_000179.3(MSH6):c.677A>G (p.Glu226Gly)

SNV
Germline

Chr2:47798660

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA016211

rs_587781777

7 SubmittersRCV000130018 RCV000410453 RCV003997541 RCV000804545

NM_000251.3(MSH2):c.409G>C (p.Gly137Arg)

SNV
Germline

Chr2:47410136

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Malignant tumor of breast
Breast and/or ovarian cancer
Lynch syndrome
MSH2-related disorder
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA021142

rs_587781795

14 SubmittersRCV000130057 RCV000202282 RCV000196356 RCV000679311 RCV001355466 RCV001798439 RCV003997545 RCV004734672 RCV005246662

NM_000535.7(PMS2):c.823C>G (p.Gln275Glu)

SNV
Germline

Chr7:5995614

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 4
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA012928

rs_587780062

9 SubmittersRCV000130089 RCV000486746 RCV000411073 RCV001079273 RCV002265615 RCV003997548

NM_000535.7(PMS2):c.1424T>A (p.Val475Glu)

SNV
Germline

Chr7:5987341

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA009659

rs_587781827

4 SubmittersRCV000130112 RCV000482982 RCV001059940 RCV003997551

NM_000251.3(MSH2):c.2503A>G (p.Asn835Asp)

SNV
Germline

Chr2:47480740

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA020655

rs_41295296

9 SubmittersRCV000130169 RCV000198710 RCV000520077 RCV003997554 RCV003460914

NM_000179.3(MSH6):c.2600T>G (p.Val867Gly)

SNV
Germline

Chr2:47800583

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA010487

rs_139598980

9 SubmittersRCV000130173 RCV000222583 RCV000238642 RCV000524147 RCV003317097 RCV005425740

NM_000179.3(MSH6):c.984C>G (p.Ser328Arg)

SNV
Germline

Chr2:47798967

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA016753

rs_138143769

8 SubmittersRCV000130197 RCV000630133 RCV000679242 RCV003460915 RCV004806077

NM_000535.7(PMS2):c.2068A>C (p.Lys690Gln)

SNV
Germline

Chr7:5982930

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Breast and/or ovarian cancer
Lynch syndrome 4
Mismatch repair cancer syndrome 4
not specified
Lynch syndrome
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA010772

rs_587781909

13 SubmittersRCV000130250 RCV000222360 RCV000230692 RCV001798443 RCV005031638 RCV001251272 RCV005359232 RCV003467136

NM_000535.7(PMS2):c.632G>A (p.Arg211Gln)

SNV
Germline

Chr7:5999181

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Malignant tumor of breast
Condition: not provided
not specified
Lynch syndrome
Mismatch repair cancer syndrome 4
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA012455

rs_587781934

19 SubmittersRCV000130297 RCV000200665 RCV000412393 RCV001356210 RCV000212846 RCV000781748 RCV003998053 RCV005042254

NM_000179.3(MSH6):c.998C>T (p.Thr333Ile)

SNV
Germline

Chr2:47798981

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Endometrial carcinoma
Endometrial carcinoma
Lynch syndrome 5
Mismatch repair cancer syndrome 3

Criteria Provided
Conflicting Classifications

CA016780

rs_587781983

13 SubmittersRCV000130382 RCV000212639 RCV000475028 RCV000986711 RCV003460924 RCV005394477

NM_000251.3(MSH2):c.2459-3T>C

SNV
Germline

Chr2:47480693

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA020621

rs_587781988

3 SubmittersRCV000130390 RCV000630147 RCV005246665

NM_000251.3(MSH2):c.2164G>A (p.Val722Ile)

SNV
Germline

Chr2:47476525

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
not specified
Lynch syndrome
MSH2-related disorder
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA020155

rs_587781996

13 SubmittersRCV000130409 RCV000168465 RCV000509191 RCV000487305 RCV003998056 RCV004532559 RCV005246666

NM_000535.7(PMS2):c.2276-10A>G

SNV
Germline

Chr7:5977767

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Lynch syndrome 4
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA011165

rs_573900018

11 SubmittersRCV000130505 RCV000203735 RCV000441367 RCV000662656 RCV001080492

NM_000535.7(PMS2):c.23+1G>T

SNV
Germline

Chr7:6008996

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Lynch syndrome
Lynch syndrome 4
Mismatch repair cancer syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA011233

rs_587782074

8 SubmittersRCV000130565 RCV000479138 RCV000529500 RCV003453076 RCV004556742 RCV005042257

NM_000179.3(MSH6):c.25A>G (p.Ser9Gly)

SNV
Germline

Chr2:47783258

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
not specified
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA010478

rs_41294986

9 SubmittersRCV000130571 RCV000235178 RCV000475467 RCV001527050 RCV004567118 RCV003998064

NM_004168.4(SDHA):c.512G>A (p.Arg171His)

SNV
Germline

Chr5:225938

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Mitochondrial complex II deficiency, nuclear type 1
Pheochromocytoma/paraganglioma syndrome 5
Mitochondrial complex II deficiency, nuclear type 1
Leigh syndrome
Hereditary pheochromocytoma-paraganglioma
Pheochromocytoma/paraganglioma syndrome 5
Gastrointestinal stromal tumor
Dilated cardiomyopathy 1GG

Criteria Provided
Conflicting Classifications

CA166671

rs_587782076

8 SubmittersRCV000130572 RCV000512840 RCV000466700 RCV001153307 RCV001153308 RCV001153309 RCV004786391 RCV001799623 RCV003474764

NM_000179.3(MSH6):c.34C>A (p.Pro12Thr)

SNV
Germline

Chr2:47783267

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
not specified
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA013137

rs_587782084

11 SubmittersRCV000130582 RCV000484580 RCV000530606 RCV000986696 RCV002281956 RCV003998065 RCV004567119

NM_000179.3(MSH6):c.1007C>G (p.Thr336Ser)

SNV
Germline

Chr2:47798990

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA007788

rs_587782102

5 SubmittersRCV000130615 RCV001219936 RCV001356288 RCV003998069

NM_000179.3(MSH6):c.369A>T (p.Lys123Asn)

SNV
Germline

Chr2:47791035

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA013907

rs_587782106

7 SubmittersRCV000130622 RCV000202268 RCV000590479 RCV000807593 RCV003998070

NM_000179.3(MSH6):c.3832C>A (p.Pro1278Thr)

SNV
Germline

Chr2:47806482

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA014466

rs_587782109

13 SubmittersRCV000130625 RCV000589175 RCV001260255 RCV001086478 RCV003998071 RCV005420565

NM_000251.3(MSH2):c.1270C>T (p.His424Tyr)

SNV
Germline

Chr2:47429935

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA017712

rs_587782278

9 SubmittersRCV000131137 RCV000464371 RCV000481281 RCV003447501 RCV003998086

NM_000179.3(MSH6):c.1364A>C (p.Asn455Thr)

SNV
Germline

Chr2:47799347

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Malignant tumor of breast
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
not specified

Criteria Provided
Conflicting Classifications

CA008530

rs_200938360

11 SubmittersRCV000196009 RCV000131161 RCV000409980 RCV001355650 RCV000590712 RCV000524107 RCV002281960

NM_000179.3(MSH6):c.596C>T (p.Pro199Leu)

SNV
Germline

Chr2:47796032

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA015926

rs_587782315

6 SubmittersRCV000131212 RCV000477097 RCV002510790 RCV003998091 RCV005365032

NM_000179.3(MSH6):c.-2G>T

SNV
Germline

Chr2:47783232

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome
Condition: not provided
not specified
Breast and/or ovarian cancer
MSH6-related disorder
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA011320

rs_374748889

12 SubmittersRCV000131214 RCV000199508 RCV000588323 RCV001818322 RCV003492616 RCV004532569 RCV005089646

NM_000179.3(MSH6):c.3014G>A (p.Arg1005Gln)

SNV
Germline

Chr2:47800997

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Mismatch repair cancer syndrome 1
Lynch syndrome 5
Endometrial carcinoma
Lynch syndrome
Endometrial carcinoma
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA011349

rs_587782324

9 SubmittersRCV000131231 RCV000764426 RCV003998092 RCV004567127 RCV004777601 RCV001060704 RCV005237571 RCV005600732

NM_000535.7(PMS2):c.2007-2A>C

SNV
Germline

Chr7:5982993

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA010693

rs_587782336

4 SubmittersRCV000131264 RCV000818298 RCV003453081 RCV005414463

NM_000535.7(PMS2):c.1379G>A (p.Gly460Asp)

SNV
Germline

Chr7:5987386

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
not specified
Lynch syndrome 4
Breast and/or ovarian cancer
Endometrial carcinoma
Lynch syndrome
Lynch syndrome 4
Mismatch repair cancer syndrome 4

Criteria Provided
Conflicting Classifications

CA009586

rs_150201462

16 SubmittersRCV000131270 RCV000477201 RCV000767041 RCV000483100 RCV000662638 RCV003492618 RCV001353427 RCV003998095 RCV005042270

NM_000179.3(MSH6):c.1376C>G (p.Ser459Cys)

SNV
Germline

Chr2:47799359

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA008555

rs_587782346

6 SubmittersRCV000131285 RCV000548616 RCV000479474 RCV002509239 RCV003998097

NM_000179.3(MSH6):c.3197A>G (p.Tyr1066Cys)

SNV
Germline

Chr2:47803444

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Endometrial carcinoma
not specified
Lynch syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA011852

rs_372103816

9 SubmittersRCV000131293 RCV000234661 RCV001560125 RCV004567129 RCV003398768 RCV003998098 RCV005600733

NM_000179.3(MSH6):c.1607G>A (p.Ser536Asn)

SNV
Germline

Chr2:47799590

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Endometrial carcinoma
Lynch syndrome 5
Mismatch repair cancer syndrome 3

Criteria Provided
Conflicting Classifications

CA008866

rs_587782352

5 SubmittersRCV000131295 RCV000693545 RCV003998099 RCV005394485

NM_000251.3(MSH2):c.163C>G (p.Arg55Gly)

SNV
Germline

Chr2:47403354

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
not specified
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA018773

rs_587782354

7 SubmittersRCV000131300 RCV000212579 RCV000545235 RCV003998100 RCV004700449 RCV004567130

NM_000251.3(MSH2):c.1530G>T (p.Gln510His)

SNV
Germline

Chr2:47466677

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA018566

rs_587782355

5 SubmittersRCV000131303 RCV000823121 RCV003315905

NM_000179.3(MSH6):c.650A>G (p.Asp217Gly)

SNV
Germline

Chr2:47798633

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 5
Lynch syndrome
Malignant tumor of breast
not specified
Hereditary nonpolyposis colon cancer

Criteria Provided
Conflicting Classifications

CA016133

rs_554012110

16 SubmittersRCV000131354 RCV000167904 RCV000212632 RCV000411184 RCV000708856 RCV001355774 RCV001193124 RCV001535792

NM_000179.3(MSH6):c.2926C>T (p.Arg976Cys)

SNV
Germline

Chr2:47800909

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
not specified
Carcinoma of colon
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA011096

rs_587782386

8 SubmittersRCV000131393 RCV000212673 RCV000630013 RCV001818325 RCV001355155 RCV003462013 RCV003998102

NM_000251.3(MSH2):c.2178G>C (p.Met726Ile)

SNV
Germline

Chr2:47476539

Conflicting classifications of pathogenicity

Carcinoma of colon
not specified
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1
Lynch syndrome
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA020172

rs_587782396

13 SubmittersRCV000227062 RCV000486473 RCV000524379 RCV000131413 RCV000767207 RCV003467174 RCV003998103 RCV004532570

NM_000251.3(MSH2):c.792+2T>C

SNV
Germline

Chr2:47412562

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA022278

rs_587782408

2 SubmittersRCV000131446 RCV003453084

NM_000535.7(PMS2):c.2356C>A (p.Leu786Met)

SNV
Germline

Chr7:5977677

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Lynch syndrome 4
Hereditary nonpolyposis colorectal neoplasms
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA011333

rs_576055272

21 SubmittersRCV000131526 RCV000218670 RCV000656951 RCV000662644 RCV001082079 RCV001798453

NM_000535.7(PMS2):c.1399G>A (p.Val467Ile)

SNV
Germline/somatic

Chr7:5987366

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch-like syndrome
Breast and/or ovarian cancer
PMS2-related disorder
Lynch syndrome
not specified

Criteria Provided
Conflicting Classifications

CA009624

rs_373611083

12 SubmittersRCV000457616 RCV000131574 RCV000656947 RCV001249988 RCV003149908 RCV003894996 RCV003998108 RCV005055602

NM_000535.7(PMS2):c.1551C>A (p.Ser517Arg)

SNV
Germline

Chr7:5987214

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome
Lynch syndrome 4
Mismatch repair cancer syndrome 4

Criteria Provided
Conflicting Classifications

CA009836

rs_587782479

8 SubmittersRCV000131593 RCV000696828 RCV001563355 RCV003998111 RCV005394488

NM_000251.3(MSH2):c.209C>T (p.Ala70Val)

SNV
Germline

Chr2:47403400

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA020016

rs_587782481

3 SubmittersRCV000131596 RCV000805430 RCV002466443 RCV002466444

NM_000179.3(MSH6):c.622A>G (p.Met208Val)

SNV
Germline

Chr2:47796058

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Endometrial carcinoma
Mismatch repair cancer syndrome 1
Endometrial carcinoma
Lynch syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA015995

rs_369058374

8 SubmittersRCV000131629 RCV000554644 RCV000765681 RCV003462016 RCV003998113 RCV005406840 RCV004760394

NM_000179.3(MSH6):c.2827G>T (p.Asp943Tyr)

SNV
Germline

Chr2:47800810

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Condition: not provided
MSH6-related disorder
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA010974

rs_143520357

9 SubmittersRCV000131640 RCV000205918 RCV000412088 RCV000212672 RCV004739455 RCV001356309

NM_000179.3(MSH6):c.2027A>G (p.Lys676Arg)

SNV
Germline

Chr2:47800010

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome
Endometrial carcinoma
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 5
MSH6-related disorder

Criteria Provided
Conflicting Classifications

CA009570

rs_143643688

11 SubmittersRCV000131641 RCV001354229 RCV003462017 RCV000204601 RCV000212656 RCV000410949 RCV004739456

NM_000179.3(MSH6):c.713C>A (p.Ser238Tyr)

SNV
Germline

Chr2:47798696

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 5
Endometrial carcinoma
Lynch syndrome
not specified
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA016318

rs_587782510

11 SubmittersRCV000131657 RCV000656889 RCV000410793 RCV003467180 RCV003998114 RCV000214572 RCV000472070

NM_000251.3(MSH2):c.965G>T (p.Gly322Val)

SNV
Germline

Chr2:47416318

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1
Lynch syndrome
not specified
MSH2-related disorder
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA022651

rs_4987188

16 SubmittersRCV000131668 RCV000203979 RCV000482522 RCV000410421 RCV001357874 RCV003150951 RCV004734676 RCV005600738

NM_000179.3(MSH6):c.698C>G (p.Pro233Arg)

SNV
Germline

Chr2:47798681

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome
Lynch syndrome 5
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA016269

rs_142949377

8 SubmittersRCV000131704 RCV000557767 RCV000212633 RCV003998115 RCV000663288 RCV003467182

NM_000251.3(MSH2):c.900G>A (p.Met300Ile)

SNV
Germline

Chr2:47414376

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Lynch syndrome 1
Muir-Torré syndrome
Mismatch repair cancer syndrome 2

Criteria Provided
Conflicting Classifications

CA022513

rs_587782530

5 SubmittersRCV000131729 RCV000487151 RCV001202065 RCV004806081 RCV005025217

NM_000535.7(PMS2):c.1243G>A (p.Val415Met)

SNV
Germline

Chr7:5987522

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Condition: not provided
Endometrial carcinoma
Hereditary breast ovarian cancer syndrome
Hereditary nonpolyposis colon cancer
PMS2-related disorder
Lynch syndrome 4
Mismatch repair cancer syndrome 1
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA009419

rs_138387687

19 SubmittersRCV000131757 RCV000198383 RCV000855605 RCV000586259 RCV001355081 RCV002275085 RCV003323294 RCV004742274 RCV000987834 RCV001535477

NM_000535.7(PMS2):c.2412G>C (p.Lys804Asn)

SNV
Germline

Chr7:5977621

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA011460

rs_547715146

6 SubmittersRCV000131772 RCV000222535 RCV000689497 RCV001193254 RCV003467186

NM_000251.3(MSH2):c.860G>C (p.Gly287Ala)

SNV
Germline

Chr2:47414336

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA022444

rs_587782567

8 SubmittersRCV000131790 RCV000588299 RCV000688511 RCV000855651 RCV003998117 RCV003467187

NM_004168.4(SDHA):c.91C>T (p.Arg31Ter)

SNV
Germline

Chr5:223509

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Pheochromocytoma/paraganglioma syndrome 5
Condition: not provided
Carney triad
Mitochondrial complex II deficiency, nuclear type 1
Pheochromocytoma/paraganglioma syndrome 5
Rhabdomyosarcoma
Pilocytic astrocytoma
Mitochondrial complex II deficiency, nuclear type 1
Gastrointestinal stromal tumor
Neurodegeneration with ataxia and late-onset optic atrophy
SDHA-related disorder
Dilated cardiomyopathy 1GG
Intellectual disability
Leigh syndrome
Dilated cardiomyopathy 1GG
Mitochondrial complex II deficiency, nuclear type 1
Pheochromocytoma/paraganglioma syndrome 5
Neurodegeneration with ataxia and late-onset optic atrophy

Criteria Provided
Conflicting Classifications

CA168793

rs_142441643

44 SubmittersRCV000131808 RCV000148026 RCV000413945 RCV000170328 RCV000627791 RCV001257553 RCV000722034 RCV001762318 RCV001799624 RCV003330507 RCV003335126 RCV003474779 RCV005625311 RCV001089554 RCV002478402

NM_000251.3(MSH2):c.1568T>C (p.Phe523Ser)

SNV
Germline

Chr2:47466715

Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA018632

rs_587782587

2 SubmittersRCV000131926 RCV003453086

NM_000179.3(MSH6):c.2653A>T (p.Lys885Ter)

SNV
Germline

Chr2:47800636

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Mismatch repair cancer syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA010661

rs_587782593

9 SubmittersRCV000131937 RCV000578967 RCV001046832 RCV003453087 RCV003313781

NM_000535.7(PMS2):c.1481C>T (p.Ser494Leu)

SNV
Germline

Chr7:5987284

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Lynch syndrome 4
Mismatch repair cancer syndrome 4
Lynch syndrome
Mismatch repair cancer syndrome 4
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA009752

rs_587782602

14 SubmittersRCV000168413 RCV000131960 RCV001193253 RCV000223568 RCV000662631 RCV005359286 RCV003998124 RCV005042276

NM_000535.7(PMS2):c.88C>T (p.Gln30Ter)

SNV
Germline

Chr7:6005967

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary nonpolyposis colon cancer
Mismatch repair cancer syndrome 1
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA013182

rs_141577476

12 SubmittersRCV000131992 RCV000475400 RCV000521392 RCV000684779 RCV001310205 RCV001175479 RCV001197302 RCV002467441

NM_000249.4(MLH1):c.1775G>C (p.Ser592Thr)

SNV
Germline

Chr3:37047562

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
MLH1-related disorder
not specified
Colorectal cancer, hereditary nonpolyposis, type 2
Mismatch repair cancer syndrome 1
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA006877

rs_587782621

14 SubmittersRCV000132004 RCV000199682 RCV000524250 RCV000483590 RCV000662692 RCV003407556 RCV004596073 RCV005031644

NM_000179.3(MSH6):c.3452C>G (p.Ala1151Gly)

SNV
Germline

Chr2:47804923

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Condition: not provided
Lynch syndrome 5
Mismatch repair cancer syndrome 3
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA012948

rs_587782625

10 SubmittersRCV000132010 RCV000234247 RCV000412120 RCV000484116 RCV005394492 RCV000708888

NM_000251.3(MSH2):c.1846C>T (p.Pro616Ser)

SNV
Germline

Chr2:47475111

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary breast ovarian cancer syndrome
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA019428

rs_587782627

5 SubmittersRCV000132012 RCV000629677 RCV001030712 RCV003129784 RCV003998127

NM_000535.7(PMS2):c.766G>A (p.Gly256Ser)

SNV
Germline

Chr7:5997363

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 4
Mismatch repair cancer syndrome 1
Lynch syndrome 4
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA012773

rs_587782633

12 SubmittersRCV000132021 RCV000167945 RCV000588881 RCV000663252 RCV000765961 RCV003998128

NM_000179.3(MSH6):c.727C>T (p.Arg243Cys)

SNV
Germline

Chr2:47798710

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ovarian cancer
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
not specified
Lynch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA016337

rs_377216828

10 SubmittersRCV000132028 RCV003153428 RCV000410426 RCV000464603 RCV003462027 RCV004689622 RCV003998130 RCV000480539

NM_000251.3(MSH2):c.1772C>T (p.Pro591Leu)

SNV
Germline

Chr2:47475037

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA019258

rs_587782643

5 SubmittersRCV000132041 RCV000204826 RCV002466445 RCV004567149

NM_000535.7(PMS2):c.2559C>G (p.Ile853Met)

SNV
Germline

Chr7:5973429

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Condition: not provided
Breast and/or ovarian cancer
Mismatch repair cancer syndrome 4
Lynch syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA011680

rs_371673459

15 SubmittersRCV000132047 RCV000199501 RCV000479601 RCV000656953 RCV003149910 RCV003483508 RCV005359288

NM_000179.3(MSH6):c.1081C>T (p.Arg361Cys)

SNV
Germline/somatic

Chr2:47799064

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome
not specified

Criteria Provided
Conflicting Classifications

CA007972

rs_587782651

9 SubmittersRCV000132064 RCV000230863 RCV000589862 RCV000758606 RCV001420719

NM_000251.3(MSH2):c.211G>C (p.Gly71Arg)

SNV
Germline

Chr2:47403402

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Carcinoma of colon
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA020066

rs_587782659

9 SubmittersRCV000132075 RCV000503476 RCV000535324 RCV000985801 RCV001353465 RCV003453090

NM_000535.7(PMS2):c.2438G>T (p.Arg813Leu)

SNV
Germline

Chr7:5977595

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 4
not specified
Lynch syndrome 4
Mismatch repair cancer syndrome 4

Criteria Provided
Conflicting Classifications

CA011492

rs_587782665

11 SubmittersRCV000132085 RCV000231154 RCV000478307 RCV003467189 RCV004689623 RCV005031645

NM_000535.7(PMS2):c.836G>T (p.Gly279Val)

SNV
Germline

Chr7:5995601

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA012989

rs_587782668

4 SubmittersRCV000132089 RCV000212853 RCV000532624 RCV005420567

NM_000179.3(MSH6):c.3847A>G (p.Ile1283Val)

SNV
Germline

Chr2:47806497

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA014555

rs_144714869

5 SubmittersRCV000132112 RCV000168184 RCV000708894

NM_000251.3(MSH2):c.942+2T>C

SNV
Germline

Chr2:47414420

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA022578

rs_587779195

3 SubmittersRCV000132128 RCV001378835 RCV003453091

NM_000251.3(MSH2):c.1076G>C (p.Arg359Thr)

SNV
Germline/somatic

Chr2:47416429

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch-like syndrome
Condition: not provided
Lynch syndrome 1
Hereditary nonpolyposis colon cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA017103

rs_63751604

7 SubmittersRCV000132158 RCV000225952 RCV001249911 RCV003477557 RCV003453092 RCV005055604

NM_000179.3(MSH6):c.1450G>C (p.Glu484Gln)

SNV
Germline

Chr2:47799433

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA008646

rs_587782706

6 SubmittersRCV000132161 RCV000203804 RCV000480825 RCV003998134 RCV004567151

NM_000179.3(MSH6):c.3469G>T (p.Gly1157Cys)

SNV
Germline

Chr2:47804940

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Condition: not provided
Endometrial carcinoma
Hereditary nonpolyposis colon cancer
Endometrial carcinoma
Lynch syndrome 5
Mismatch repair cancer syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA012982

rs_587779264

9 SubmittersRCV000132174 RCV000541079 RCV001267890 RCV002514752 RCV003462035 RCV005237573 RCV005031646

NM_000535.7(PMS2):c.1A>T (p.Met1Leu)

SNV
Germline

Chr7:6009019

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Lynch syndrome 4
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA010652

rs_587779333

10 SubmittersRCV000132181 RCV000218553 RCV000527509 RCV000500454 RCV003453093 RCV004806082

NM_000251.3(MSH2):c.116G>C (p.Arg39Pro)

SNV
Germline

Chr2:47403307

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Condition: not provided
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA017407

rs_587782759

7 SubmittersRCV000132280 RCV000800194 RCV000780435 RCV001753517 RCV003462042 RCV003998140

NM_000249.4(MLH1):c.117-2A>G

SNV
Germline

Chr3:36996617

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome
Hereditary nonpolyposis colon cancer
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA004620

rs_267607712

7 SubmittersRCV000132299 RCV000200647 RCV000478069 RCV000780423 RCV001255219 RCV003453096

NM_000251.3(MSH2):c.131C>A (p.Thr44Lys)

SNV
Germline

Chr2:47403322

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA017976

rs_587779085

4 SubmittersRCV000132327 RCV000540791 RCV004567153

NM_000535.7(PMS2):c.1211C>G (p.Pro404Arg)

SNV
Germline

Chr7:5987554

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Condition: not provided
not specified
Lynch syndrome
PMS2-related disorder

Criteria Provided
Conflicting Classifications

CA009336

rs_536111818

18 SubmittersRCV000132334 RCV000168006 RCV000987836 RCV000479344 RCV001193252 RCV003998143 RCV003389704

NM_000251.2(MSH2):c.-116G>T

SNV
Germline

Chr2:47403076

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA017413

rs_587782786

2 SubmittersRCV000132335 RCV000405263

NM_000535.7(PMS2):c.2531C>A (p.Pro844His)

SNV
Germline

Chr7:5973457

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Condition: not provided
PMS2-related disorder
Hereditary nonpolyposis colon cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA011663

rs_587782787

8 SubmittersRCV000132336 RCV000469886 RCV002279947 RCV003477560 RCV003894999 RCV005055606

NM_000535.7(PMS2):c.1204C>A (p.Gln402Lys)

SNV
Germline

Chr7:5987561

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 4
Mismatch repair cancer syndrome 4

Criteria Provided
Conflicting Classifications

CA009322

rs_587782789

5 SubmittersRCV000132338 RCV000687885 RCV001775627 RCV005394494

NM_000251.3(MSH2):c.586C>T (p.Pro196Ser)

SNV
Germline

Chr2:47410313

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA021484

rs_587782804

5 SubmittersRCV000132363 RCV000629706 RCV003998144 RCV004815197

NM_000179.3(MSH6):c.2147C>T (p.Thr716Ile)

SNV
Germline

Chr2:47800130

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA009755

rs_587782805

7 SubmittersRCV000132365 RCV000411918 RCV000212659 RCV000468830 RCV003998145

NM_000249.4(MLH1):c.1489C>T (p.Arg497Trp)

SNV
Germline

Chr3:37028863

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Mismatch repair cancer syndrome 1
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Conflicting Classifications

CA005559

rs_200830026

9 SubmittersRCV000168002 RCV000132432 RCV000588886 RCV001535466 RCV003998147 RCV004567155

NM_000535.7(PMS2):c.936G>A (p.Met312Ile)

SNV
Germline

Chr7:5992025

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 4
Lynch syndrome
not specified
PMS2-related disorder
Hereditary nonpolyposis colorectal neoplasms
Mismatch repair cancer syndrome 4

Criteria Provided
Conflicting Classifications

CA013317

rs_139194813

14 SubmittersRCV000132451 RCV000590247 RCV000662505 RCV001270440 RCV001260258 RCV003415967 RCV001085599 RCV005359304

NM_000535.7(PMS2):c.983A>G (p.Asp328Gly)

SNV
Germline

Chr7:5991978

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Lynch syndrome
not specified
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
PMS2-related disorder
Lynch syndrome 4
Mismatch repair cancer syndrome 4

Criteria Provided
Conflicting Classifications

CA013395

rs_587782852

14 SubmittersRCV000132452 RCV000411483 RCV000708988 RCV000214828 RCV000226690 RCV000656944 RCV003390826 RCV005394495

NM_000249.4(MLH1):c.626A>G (p.Asn209Ser)

SNV
Germline

Chr3:37012048

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
not specified
MLH1-related disorder
Lynch syndrome
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA011273

rs_150478207

16 SubmittersRCV000132489 RCV000200318 RCV000480315 RCV000662374 RCV001804854 RCV003398776 RCV003998148 RCV005365041

NM_000179.3(MSH6):c.2161A>G (p.Arg721Gly)

SNV
Germline

Chr2:47800144

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Condition: not provided

Criteria Provided
Conflicting Classifications

CA009782

rs_537604099

7 SubmittersRCV000132526 RCV000469296 RCV001201355 RCV003462049 RCV003320574

NM_000251.3(MSH2):c.2375A>G (p.Asn792Ser)

SNV
Germline

Chr2:47478436

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA020519

rs_587782891

9 SubmittersRCV000132529 RCV000409026 RCV000540856 RCV001354926 RCV001818334 RCV001650987

NM_000179.3(MSH6):c.2189A>G (p.Tyr730Cys)

SNV
Germline

Chr2:47800172

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA009841

rs_587782900

5 SubmittersRCV000132542 RCV002228511 RCV004567156 RCV003998152

NC_012920.1(MT-ND1):m.3890G>A

SNV
Germline

ChrMT:3890

Likely pathogenic

Leigh syndrome
Mitochondrial disease
not specified

Reviewed By Expert Panel

CA345911

rs_587776434

3 SubmittersRCV000144000 RCV002260617 RCV002285011

NC_012920.1(MT-ND3):m.10254G>A

SNV
Germline

ChrMT:10254

Likely pathogenic

Leigh syndrome
Mitochondrial disease

Reviewed By Expert Panel

CA345916

rs_587776438

2 SubmittersRCV000144012 RCV005251082

NC_012920.1(MT-ND5):m.13514A>G

SNV
Germline

ChrMT:13514

Likely pathogenic

Leigh syndrome
Mitochondrial disease
MELAS syndrome

Reviewed By Expert Panel

CA345918

rs_587776440

3 SubmittersRCV000144017 RCV002260618 RCV003333959

NC_012920.1(MT-ATP6):m.8839G>C

SNV
Germline

ChrMT:8839

Pathogenic

Leigh syndrome
Mitochondrial disease

No Assertion Criteria Provided

CA345921

rs_1556423547

2 SubmittersRCV000144024 RCV000495688

NM_004092.4(ECHS1):c.2T>G (p.Met1Arg)

SNV
Germline

Chr10:133373332

Pathogenic/Likely pathogenic

Leigh syndrome
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA214804

rs_587776497

4 SubmittersRCV000144496 RCV000167581 RCV002515942

NM_004092.4(ECHS1):c.5C>T (p.Ala2Val)

SNV
Germline

Chr10:133373329

Pathogenic

Leigh syndrome
Condition: not provided
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA214806

rs_587776498

7 SubmittersRCV000144497 RCV000481050 RCV000167582

NM_006218.4(PIK3CA):c.353G>A (p.Gly118Asp)

SNV
Germline/somatic

Chr3:179199690

Pathogenic

Cowden syndrome 5
Condition: not provided
Angioosteohypertrophic syndrome
Keratoacanthoma
Cowden syndrome
PIK3CA related overgrowth syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA170883

rs_587777790

8 SubmittersRCV000144506 RCV001726000 RCV002254279 RCV001849317 RCV002512561 RCV004719712

NM_018060.4(IARS2):c.2122G>A (p.Glu708Lys)

SNV
Germline

Chr1:220137990

Conflicting classifications of pathogenicity

Leigh syndrome
Condition: not provided
not specified
Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome

Criteria Provided
Conflicting Classifications

CA233274

rs_143722284

8 SubmittersRCV000144717 RCV000144956 RCV000601238 RCV000986556

NM_004958.4(MTOR):c.5930C>A (p.Thr1977Lys)

SNV
Germline/somatic

Chr1:11128107

Pathogenic

Condition: not provided
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
Isolated focal cortical dysplasia type II

Reviewed By Expert Panel

CA248390

rs_587777893

4 SubmittersRCV000190280 RCV002272139 RCV001836736 RCV005251084

NM_004958.4(MTOR):c.6644C>T (p.Ser2215Phe)

SNV
Germline/somatic

Chr1:11124516

Pathogenic

Condition: not provided
Isolated focal cortical dysplasia type II
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes

Reviewed By Expert Panel

CA248393

rs_587777894

4 SubmittersRCV000190281 RCV000477713 RCV001836737

NM_004958.4(MTOR):c.7255G>A (p.Glu2419Lys)

SNV
Germline/somatic

Chr1:11114363

Pathogenic

Condition: not provided
CEBALID syndrome
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
Inborn genetic diseases
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes

Criteria Provided
Multiple Submitters
No Conflicts

CA248407

rs_587777900

6 SubmittersRCV000190287 RCV001260512 RCV003444060 RCV004948196 RCV005251085

NM_002354.3(EPCAM):c.556-14A>G

SNV
Germline

Chr2:47378939

Pathogenic/Likely pathogenic

Congenital diarrhea 5 with tufting enteropathy
Lynch syndrome 8
Congenital diarrhea 5 with tufting enteropathy
Condition: not provided
EPCAM-related disorder
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA171016

rs_376155665

13 SubmittersRCV000144936 RCV000763487 RCV003654209 RCV004751287 RCV005359310

NM_000540.3(RYR1):c.3494G>A (p.Gly1165Asp)

SNV
Germline

Chr19:38469078

Conflicting classifications of pathogenicity

Condition: not provided
RYR1-related disorder
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
Congenital multicore myopathy with external ophthalmoplegia

Criteria Provided
Conflicting Classifications

CA024401

rs_559581937

7 SubmittersRCV000147421 RCV001237337 RCV003338423 RCV005016466 RCV005411352

NM_000540.3(RYR1):c.4225C>T (p.Arg1409Ter)

SNV
Germline

Chr19:38475382

Pathogenic

Condition: not provided
RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
Congenital multicore myopathy with external ophthalmoplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA024435

rs_587784376

5 SubmittersRCV000147427 RCV001057643 RCV003998164 RCV005431490 RCV005016467

NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter)

SNV
Germline

Chr19:38496466

Conflicting classifications of pathogenicity

Multi-minicore disease and atypical periodic paralysis
Condition: not provided
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1
Neuromuscular disease
Central core myopathy
RYR1-related disorder
Hydrops fetalis
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
Central core myopathy

Criteria Provided
Conflicting Classifications

CA024643

rs_200563280

26 SubmittersRCV000148787 RCV000147436 RCV000171129 RCV000178453 RCV000263175 RCV000525302 RCV001257398 RCV001530191 RCV002505131 RCV005394501

NM_004168.4(SDHA):c.1753C>T (p.Arg585Trp)

SNV
Germline

Chr5:251427

Pathogenic/Likely pathogenic

Pheochromocytoma/paraganglioma syndrome 5
Hereditary cancer-predisposing syndrome
Pheochromocytoma/paraganglioma syndrome 5
Mitochondrial complex II deficiency, nuclear type 1
Leigh syndrome
Pheochromocytoma/paraganglioma syndrome 5
Dilated cardiomyopathy 1GG
Mitochondrial complex II deficiency, nuclear type 1
Condition: not provided
Neurodegeneration with ataxia and late-onset optic atrophy
Dilated cardiomyopathy 1GG
Pheochromocytoma/paraganglioma syndrome 5
Dilated cardiomyopathy 1GG
Mitochondrial complex II deficiency, nuclear type 1
Neurodegeneration with ataxia and late-onset optic atrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA188615

rs_200397144

14 SubmittersRCV000148027 RCV000163558 RCV000464783 RCV000765834 RCV000762143 RCV001824123 RCV003474794 RCV005394505

NM_000251.3(MSH2):c.1927G>A (p.Glu643Lys)

SNV
Germline

Chr2:47475192

Conflicting classifications of pathogenicity

Ovarian cancer
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Lynch syndrome 1
Lynch syndrome
Mismatch repair cancer syndrome 2
not specified
Lynch syndrome
MSH2-related disorder
Lynch syndrome 1
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA019583

rs_374840361

14 SubmittersRCV000148637 RCV000160596 RCV000204646 RCV000589876 RCV000765671 RCV003483522 RCV002509245 RCV003998170 RCV004532666 RCV004567167 RCV005359313

NM_000251.3(MSH2):c.2203A>G (p.Ile735Val)

SNV
Germline

Chr2:47476564

Conflicting classifications of pathogenicity

Ovarian cancer
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Muir-Torré syndrome
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA020218

rs_2229061

12 SubmittersRCV000148638 RCV000471467 RCV000411526 RCV000588732 RCV000491584 RCV001175338 RCV005359314 RCV004532667

NM_000540.3(RYR1):c.2275A>G (p.Asn759Asp)

SNV
Germline

Chr19:38459253

Conflicting classifications of pathogenicity

Myopathy, RYR1-associated
not specified
Malignant hyperthermia, susceptibility to, 1
RYR1-related disorder
Condition: not provided
Inborn genetic diseases
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia

Criteria Provided
Conflicting Classifications

CA024341

rs_147320363

18 SubmittersRCV000148816 RCV000153861 RCV000210004 RCV000533102 RCV000723802 RCV002514856 RCV002492546 RCV005252771

NM_000540.3(RYR1):c.4405C>T (p.Arg1469Trp)

SNV
Germline

Chr19:38477821

Conflicting classifications of pathogenicity

Congenital myopathy
not specified
RYR1-related disorder
Condition: not provided
Fetal akinesia deformation sequence 1
Arthrogryposis multiplex congenita
Congenital myopathy with fiber type disproportion
See cases
Neuromuscular disease
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
Congenital multicore myopathy with external ophthalmoplegia

Criteria Provided
Conflicting Classifications

CA024441

rs_200546266

18 SubmittersRCV000148819 RCV000501380 RCV000534955 RCV000520385 RCV000855482 RCV001198313 RCV004797783 RCV004017422 RCV003998172 RCV004767091 RCV005406848

NM_000540.3(RYR1):c.11763C>A (p.Tyr3921Ter)

SNV
Germline

Chr19:38543420

Conflicting classifications of pathogenicity

Congenital myopathy
RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1
Condition: not provided
Inborn genetic diseases
Central core myopathy
Congenital myopathy with fiber type disproportion
Congenital multicore myopathy with external ophthalmoplegia
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1
Congenital myopathy with fiber type disproportion
Congenital multicore myopathy with external ophthalmoplegia

Criteria Provided
Conflicting Classifications

CA023934

rs_377178986

11 SubmittersRCV000148788 RCV000704053 RCV000990206 RCV000721251 RCV001266922 RCV002478416 RCV001795258 RCV004786401

NM_000535.7(PMS2):c.1144+1G>A

SNV
Germline

Chr7:5989799

Pathogenic/Likely pathogenic

Lynch syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Mismatch repair cancer syndrome 4
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA009232

rs_373885654

10 SubmittersRCV000149895 RCV000213090 RCV001044002 RCV002453477 RCV005359315 RCV003453108

NM_001267550.2(TTN):c.97492+1G>C

SNV
Germline

Chr2:178542263

Pathogenic/Likely pathogenic

Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiomyopathy
SUDDEN INFANT DEATH SYNDROME
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA273675

rs_727505319

8 SubmittersRCV000156861 RCV000462323 RCV000184284 RCV000769868 RCV001788053 RCV002362834

NM_006218.4(PIK3CA):c.3129G>A (p.Met1043Ile)

SNV
Germline/somatic

Chr3:179234286

Pathogenic/Likely pathogenic

Non-small cell lung carcinoma
PIK3CA related overgrowth syndrome
Cowden syndrome
Megalencephaly-capillary malformation-polymicrogyria syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA183868

rs_121913283

5 SubmittersRCV000155959 RCV000201237 RCV000699681 RCV001526545 RCV002293423

NM_001378615.1(CC2D2A):c.1017+1G>A

SNV
Germline

Chr4:15516005

Pathogenic/Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome 9
Condition: not provided
CC2D2A-related disorder
Meckel syndrome, type 6
Retinitis pigmentosa 93
Joubert syndrome 9
COACH syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA210291

rs_200407856

8 SubmittersRCV000198057 RCV000201663 RCV000597652 RCV004732713 RCV005031661

NM_024426.6(WT1):c.764T>A (p.Met255Lys)

SNV
Germline

Chr11:32428517

Conflicting classifications of pathogenicity

Proteinuria
Drash syndrome
Frasier syndrome
Wilms tumor 1
11p partial monosomy syndrome
Condition: not provided
8 conditions
Inborn genetic diseases
WT1-related disorder

Criteria Provided
Conflicting Classifications

CA016452

rs_377573993

6 SubmittersRCV000157583 RCV000892804 RCV003162657 RCV002492615 RCV004965287 RCV004551354

NM_000251.3(MSH2):c.-9G>C

SNV
Germline

Chr2:47403183

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Mismatch repair cancer syndrome 2
Lynch syndrome 1
Muir-Torré syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA022727

rs_547444746

11 SubmittersRCV000160647 RCV000732070 RCV000410517 RCV003584558 RCV005025247 RCV001850270 RCV003998488 RCV004734755

NM_000251.3(MSH2):c.14C>T (p.Pro5Leu)

SNV
Germline

Chr2:47403205

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA018467

rs_56170584

6 SubmittersRCV000160589 RCV000559215 RCV002390391 RCV003325191 RCV003998472

NM_000251.3(MSH2):c.55T>C (p.Phe19Leu)

SNV
Germline

Chr2:47403246

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Condition: not provided
not specified
Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer
MSH2-related disorder
Muir-Torré syndrome
Lynch syndrome 1
Mismatch repair cancer syndrome 2
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA021396

rs_141711342

17 SubmittersRCV000160635 RCV000409531 RCV000588459 RCV001255213 RCV001084278 RCV003323295 RCV004528902 RCV005359372 RCV003492654

NM_000251.3(MSH2):c.62G>A (p.Arg21His)

SNV
Germline

Chr2:47403253

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Lynch syndrome 1
Mismatch repair cancer syndrome 1

Criteria Provided
Conflicting Classifications

CA021613

rs_730881760

5 SubmittersRCV000160594 RCV000539963 RCV001025106 RCV003998475 RCV005429003

NM_000251.3(MSH2):c.126C>G (p.Phe42Leu)

SNV
Germline

Chr2:47403317

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Lynch syndrome 1
Muir-Torré syndrome
not specified

Criteria Provided
Conflicting Classifications

CA017708

rs_730881766

10 SubmittersRCV000160605 RCV000212577 RCV000559519 RCV003998479 RCV004567210 RCV005359368 RCV001192614

NM_000251.3(MSH2):c.147C>G (p.Asp49Glu)

SNV
Germline

Chr2:47403338

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA018396

rs_730881771

6 SubmittersRCV000160616 RCV000196255 RCV000565780 RCV003998483 RCV004567213

NM_000251.3(MSH2):c.198C>T (p.Tyr66=)

SNV
Germline

Chr2:47403389

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome 1
Carcinoma of colon
Condition: not provided
Breast and/or ovarian cancer
Lynch syndrome
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA019673

rs_730881784

16 SubmittersRCV000160652 RCV000206199 RCV000212580 RCV000409186 RCV001354005 RCV001284171 RCV003492655 RCV003998489 RCV004544470

NM_000251.3(MSH2):c.368C>G (p.Ala123Gly)

SNV
Germline

Chr2:47410095

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA021080

rs_730881767

6 SubmittersRCV000160606 RCV000212582 RCV000531566 RCV003998480 RCV004567211

NM_000251.3(MSH2):c.383T>G (p.Leu128Arg)

SNV
Germline

Chr2:47410110

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Lynch syndrome 1
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA021103

rs_730881768

12 SubmittersRCV000197978 RCV000217291 RCV000590606 RCV000662843 RCV000515278 RCV003330516 RCV003998481

NM_000251.3(MSH2):c.386C>G (p.Ser129Cys)

SNV
Germline

Chr2:47410113

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA021106

rs_587779972

10 SubmittersRCV000492034 RCV000587688 RCV000986650 RCV000629990 RCV003998482

NM_000251.3(MSH2):c.481G>A (p.Val161Ile)

SNV
Germline

Chr2:47410208

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA021193

rs_149511545

12 SubmittersRCV000160612 RCV000212587 RCV001002118 RCV000477198 RCV003444208 RCV004734754

NM_000251.3(MSH2):c.544G>T (p.Asp182Tyr)

SNV
Germline

Chr2:47410271

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Mismatch repair cancer syndrome 2
Lynch syndrome 1
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA021347

rs_730881770

6 SubmittersRCV000160614 RCV001348083 RCV001024126 RCV005055651 RCV005025245

NM_000251.3(MSH2):c.566C>G (p.Ala189Gly)

SNV
Germline

Chr2:47410293

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1
Mismatch repair cancer syndrome 2
Lynch syndrome
Lynch syndrome
Mismatch repair cancer syndrome 2
Lynch syndrome 1
Muir-Torré syndrome
not specified

Criteria Provided
Conflicting Classifications

CA021433

rs_141021599

12 SubmittersRCV000233177 RCV000565216 RCV000590509 RCV000410808 RCV003483528 RCV003998484 RCV002478486 RCV001251062

NM_000251.3(MSH2):c.581T>C (p.Ile194Thr)

SNV
Germline

Chr2:47410308

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA021473

rs_730881778

9 SubmittersRCV000160638 RCV000212589 RCV000556928 RCV001356798 RCV004567214

NM_000251.3(MSH2):c.592G>T (p.Glu198Ter)

SNV
Germline

Chr2:47410319

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Mismatch repair cancer syndrome 2
Lynch syndrome 1
Muir-Torré syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA021507

rs_587779166

5 SubmittersRCV000491751 RCV001212954 RCV003453269 RCV005031675

NM_000251.3(MSH2):c.701C>T (p.Thr234Ile)

SNV
Germline

Chr2:47412469

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Lynch syndrome
Muir-Torré syndrome
Lynch syndrome 1
Mismatch repair cancer syndrome 2

Criteria Provided
Conflicting Classifications

CA022053

rs_730881773

10 SubmittersRCV000160625 RCV000473583 RCV000663301 RCV000562874 RCV004806115 RCV005359370

NM_000251.3(MSH2):c.716A>G (p.Gln239Arg)

SNV
Germline

Chr2:47412484

Conflicting classifications of pathogenicity

not specified
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA022091

rs_199676483

17 SubmittersRCV000160626 RCV000198252 RCV000411135 RCV000491808 RCV000656873 RCV000708828 RCV005359371

NM_000251.3(MSH2):c.766G>A (p.Ala256Thr)

SNV
Germline

Chr2:47412534

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
not specified
Muir-Torré syndrome
Lynch syndrome 1
Mismatch repair cancer syndrome 2

Criteria Provided
Conflicting Classifications

CA022219

rs_377403073

11 SubmittersRCV000160627 RCV000196535 RCV000491536 RCV000662661 RCV002265637 RCV005394556

NM_000251.3(MSH2):c.898A>G (p.Met300Val)

SNV
Germline

Chr2:47414374

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA022496

rs_730881753

4 SubmittersRCV000160578 RCV000203837 RCV002444666 RCV003467247

NM_000251.3(MSH2):c.1139T>C (p.Leu380Ser)

SNV
Germline

Chr2:47429804

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA017337

rs_730881755

6 SubmittersRCV000203771 RCV000160581 RCV000215764 RCV000780458 RCV004806114

NM_000251.3(MSH2):c.1189C>G (p.Gln397Glu)

SNV
Germline

Chr2:47429854

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
not specified
Lynch syndrome
Mismatch repair cancer syndrome 2
Lynch syndrome 1
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA017431

rs_63750611

11 SubmittersRCV000160634 RCV000233011 RCV000491315 RCV001257466 RCV001269197 RCV003998485 RCV005025246

NM_000251.3(MSH2):c.1276+11A>G

SNV
Germline

Chr2:47429952

Conflicting classifications of pathogenicity

not specified
Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA017737

rs_189015988

7 SubmittersRCV000160644 RCV000410246 RCV000580774 RCV002053928 RCV005359373

NM_000251.3(MSH2):c.1382A>C (p.Asp461Ala)

SNV
Germline

Chr2:47445653

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA018117

rs_730881756

9 SubmittersRCV000160583 RCV000198641 RCV000492025 RCV000662679 RCV002265636 RCV003998470

NM_000251.3(MSH2):c.1483A>G (p.Thr495Ala)

SNV
Germline

Chr2:47463127

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA018401

rs_730881757

5 SubmittersRCV000160587 RCV000573867 RCV000821313 RCV003998471

NM_000251.3(MSH2):c.1530G>C (p.Gln510His)

SNV
Germline

Chr2:47466677

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Lynch syndrome
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA018560

rs_587782355

10 SubmittersRCV000160591 RCV000235175 RCV000548522 RCV001137232 RCV003998473 RCV004544469

NM_000251.3(MSH2):c.1571G>A (p.Arg524His)

SNV
Germline

Chr2:47466718

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Breast carcinoma
Muir-Torré syndrome
Lynch syndrome 1
Mismatch repair cancer syndrome 2
Lynch syndrome 1
Muir-Torré syndrome
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA018637

rs_63751207

13 SubmittersRCV000160592 RCV000228006 RCV000218047 RCV000708832 RCV002243830 RCV005025244 RCV003467248 RCV005359367 RCV003492653

NM_000251.3(MSH2):c.1617T>A (p.Phe539Leu)

SNV
Germline

Chr2:47466764

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA018746

rs_730881759

6 SubmittersRCV000160593 RCV000774571 RCV001067826 RCV003462090 RCV003998474

NM_000251.3(MSH2):c.1813G>A (p.Val605Ile)

SNV
Germline

Chr2:47475078

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
not specified

Criteria Provided
Conflicting Classifications

CA019367

rs_730881777

8 SubmittersRCV000160636 RCV000212610 RCV000462601 RCV000986680 RCV004700495

NM_000251.3(MSH2):c.1973A>G (p.Glu658Gly)

SNV
Germline

Chr2:47475238

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA019625

rs_200827721

3 SubmittersRCV000160637 RCV001013808 RCV003998486

NM_000251.3(MSH2):c.2041C>G (p.Gln681Glu)

SNV
Germline

Chr2:47476402

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA019878

rs_730881762

7 SubmittersRCV000160598 RCV000203996 RCV001014194 RCV003467249 RCV003998476

NM_000251.3(MSH2):c.2043A>T (p.Gln681His)

SNV
Germline

Chr2:47476404

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA019887

rs_730881763

5 SubmittersRCV000219973 RCV000160599 RCV000813805 RCV004567209

NM_000251.3(MSH2):c.2110A>G (p.Ile704Val)

SNV
Germline

Chr2:47476471

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA020041

rs_730881764

8 SubmittersRCV000160601 RCV000590168 RCV000796598 RCV002247555 RCV003998477 RCV004734753

NM_000251.3(MSH2):c.2120G>A (p.Cys707Tyr)

SNV
Germline

Chr2:47476481

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
not specified
Lynch syndrome 1
Malignant tumor of breast
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Criteria Provided
Conflicting Classifications

CA020070

rs_373226409

14 SubmittersRCV000160602 RCV000491763 RCV001085231 RCV000761096 RCV001193853 RCV000410402 RCV001354130 RCV004813065

NM_000251.3(MSH2):c.2171C>T (p.Thr724Met)

SNV
Germline

Chr2:47476532

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA020167

rs_63751125

5 SubmittersRCV000160603 RCV000492028 RCV000629694 RCV003462091 RCV003998478

NM_000251.3(MSH2):c.2288C>T (p.Ala763Val)

SNV
Germline

Chr2:47478349

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA020406

rs_144412585

6 SubmittersRCV000160609 RCV000218725 RCV000456427 RCV003453268

NM_000251.3(MSH2):c.2377C>G (p.Gln793Glu)

SNV
Germline

Chr2:47478438

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Malignant tumor of breast
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA020523

rs_730881769

8 SubmittersRCV000160611 RCV000212618 RCV000542071 RCV000656881 RCV001357332 RCV004567212

NM_000251.3(MSH2):c.2537A>G (p.Gln846Arg)

SNV
Germline

Chr2:47480774

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome 1
Condition: not provided
Hereditary cancer
Muir-Torré syndrome
Lynch syndrome 1
Mismatch repair cancer syndrome 2

Criteria Provided
Conflicting Classifications

CA020697

rs_140754514

14 SubmittersRCV000160621 RCV000168241 RCV000235176 RCV000663089 RCV000656883 RCV004700494 RCV005359369

NM_000251.3(MSH2):c.2606C>A (p.Ala869Glu)

SNV
Germline

Chr2:47480843

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
not specified
Carcinoma of colon
Lynch syndrome
Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA020801

rs_730881772

12 SubmittersRCV000203841 RCV000759828 RCV001193897 RCV001354344 RCV000708846 RCV003467250 RCV000565478

NM_000179.3(MSH6):c.-6G>T

SNV
Germline

Chr2:47783228

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Lynch syndrome
Mismatch repair cancer syndrome 3

Criteria Provided
Conflicting Classifications

CA016277

rs_730881822

7 SubmittersRCV000160736 RCV001311926 RCV000580307 RCV003315963 RCV003998518 RCV005365052

NM_000179.3(MSH6):c.97C>T (p.Arg33Cys)

SNV
Germline

Chr2:47783330

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA016738

rs_730881811

5 SubmittersRCV000160708 RCV001043688 RCV000490935 RCV003320579 RCV003998509

NM_000179.3(MSH6):c.532C>T (p.Arg178Cys)

SNV
Germline

Chr2:47795968

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome
Lynch syndrome 5
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA015802

rs_730881813

13 SubmittersRCV000160711 RCV000217717 RCV001030488 RCV000456306 RCV000781604 RCV003998510 RCV000986705 RCV003467255

NM_000179.3(MSH6):c.728G>A (p.Arg243His)

SNV
Germline

Chr2:47798711

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Lynch syndrome
not specified
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA016346

rs_370157832

12 SubmittersRCV000160655 RCV000459365 RCV001030489 RCV000568587 RCV005420574 RCV001270441 RCV003230421 RCV003462092

NM_000179.3(MSH6):c.831A>C (p.Glu277Asp)

SNV
Germline

Chr2:47798814

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 5
not specified
Endometrial carcinoma
Lynch syndrome 5
Mismatch repair cancer syndrome 3
MSH6-related disorder
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA016522

rs_374486449

14 SubmittersRCV000160656 RCV000196039 RCV000235181 RCV000411901 RCV000781597 RCV002484996 RCV004535042 RCV003462093 RCV003998490

NM_000179.3(MSH6):c.979A>G (p.Thr327Ala)

SNV
Germline

Chr2:47798962

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA016717

rs_730881814

6 SubmittersRCV000160712 RCV000214500 RCV000499861 RCV000818095 RCV004806122

NM_000179.3(MSH6):c.1050C>T (p.Ala350=)

SNV
Germline

Chr2:47799033

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
Breast and/or ovarian cancer
Malignant tumor of breast
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA007877

rs_730881802

19 SubmittersRCV000212643 RCV000160690 RCV000409759 RCV001080910 RCV003149978 RCV001356437 RCV000586411 RCV003998501

NM_000179.3(MSH6):c.1054G>A (p.Val352Ile)

SNV
Germline

Chr2:47799037

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 5
not specified
Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer
Hereditary breast ovarian cancer syndrome
MSH6-related disorder
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA007915

rs_730881787

15 SubmittersRCV000160662 RCV000656893 RCV000986713 RCV000780471 RCV001082336 RCV003323296 RCV005089799 RCV004739503 RCV005359374

NM_000179.3(MSH6):c.1061G>T (p.Gly354Val)

SNV
Germline

Chr2:47799044

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 5
Breast and/or ovarian cancer
not specified
Lynch syndrome
MSH6-related disorder

Criteria Provided
Conflicting Classifications

CA007928

rs_730881788

13 SubmittersRCV000160663 RCV000198861 RCV000212644 RCV000662570 RCV001798553 RCV002271427 RCV003998491 RCV004739504

NM_000179.3(MSH6):c.1190A>G (p.Tyr397Cys)

SNV
Germline

Chr2:47799173

Conflicting classifications of pathogenicity

not specified
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 5
Hereditary breast ovarian cancer syndrome
Lynch syndrome
Endometrial carcinoma
Mismatch repair cancer syndrome 3
Lynch syndrome 5
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA008291

rs_63750065

18 SubmittersRCV000160665 RCV000206352 RCV000565934 RCV000656894 RCV000662428 RCV001030492 RCV000708864 RCV002484997 RCV004567216

NM_000179.3(MSH6):c.1214C>G (p.Ser405Cys)

SNV
Germline

Chr2:47799197

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA008320

rs_730881790

7 SubmittersRCV000160666 RCV000195871 RCV000563544 RCV000780479 RCV003998492

NM_000179.3(MSH6):c.1618C>G (p.Leu540Val)

SNV
Germline

Chr2:47799601

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA008916

rs_201996928

5 SubmittersRCV000160667 RCV000491381 RCV000468959 RCV004806119

NM_000179.3(MSH6):c.1661G>A (p.Arg554His)

SNV
Germline

Chr2:47799644

Conflicting classifications of pathogenicity

not specified
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Condition: not provided
Endometrial carcinoma
Mismatch repair cancer syndrome 3
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA009015

rs_730881791

10 SubmittersRCV000160668 RCV000560061 RCV000571101 RCV000708869 RCV000767214 RCV005031676

NM_000179.3(MSH6):c.1667A>G (p.Tyr556Cys)

SNV
Germline

Chr2:47799650

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Carcinoma of colon
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA009030

rs_63751312

8 SubmittersRCV000160669 RCV001012627 RCV001354487 RCV000811291 RCV004806120 RCV004567217

NM_000179.3(MSH6):c.1757T>C (p.Val586Ala)

SNV
Germline

Chr2:47799740

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA009128

rs_730881792

6 SubmittersRCV000160670 RCV000545304 RCV000774598 RCV000781596 RCV003998493

NM_000179.3(MSH6):c.1805C>G (p.Ser602Ter)

SNV
Germline

Chr2:47799788

Pathogenic

Condition: not provided
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Hereditary cancer-predisposing syndrome
MSH6-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA009231

rs_730881816

11 SubmittersRCV000160715 RCV000231648 RCV000627696 RCV000409404 RCV000491316 RCV004739507

NM_000179.3(MSH6):c.1822A>G (p.Ile608Val)

SNV
Germline

Chr2:47799805

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome
not specified
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA009270

rs_201613780

12 SubmittersRCV000491442 RCV000196510 RCV000589796 RCV000757926 RCV002271428 RCV005600758

NM_000179.3(MSH6):c.1844G>C (p.Cys615Ser)

SNV
Germline

Chr2:47799827

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Lynch syndrome
Condition: not provided
MSH6-related disorder
not specified
Breast and/or ovarian cancer
Mismatch repair cancer syndrome 3

Criteria Provided
Conflicting Classifications

CA009314

rs_730881793

17 SubmittersRCV000160673 RCV000524120 RCV000410091 RCV000304378 RCV000212653 RCV004739505 RCV001193697 RCV001798554 RCV005359375

NM_000179.3(MSH6):c.1974G>A (p.Val658=)

SNV
Germline

Chr2:47799957

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA009504

rs_372916347

10 SubmittersRCV000160674 RCV000212655 RCV002271429 RCV001083661 RCV003998494 RCV005420575

NM_000179.3(MSH6):c.1999G>C (p.Asp667His)

SNV
Germline

Chr2:47799982

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA009534

rs_151086192

7 SubmittersRCV000160675 RCV000233389 RCV000214441 RCV000662835 RCV003998495

NM_000179.3(MSH6):c.2141C>G (p.Ser714Cys)

SNV
Germline

Chr2:47800124

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Mismatch repair cancer syndrome 3
Lynch syndrome 5
Endometrial carcinoma
Lynch syndrome
Endometrial carcinoma
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA009720

rs_730881796

9 SubmittersRCV000160678 RCV001174633 RCV000212658 RCV000542696 RCV005394557 RCV004806121 RCV003467252 RCV005600759

NM_000179.3(MSH6):c.2249C>A (p.Thr750Lys)

SNV
Germline

Chr2:47800232

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Endometrial carcinoma
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA009894

rs_730881817

8 SubmittersRCV000205769 RCV000587383 RCV004567220 RCV000491170 RCV000663327

NM_000179.3(MSH6):c.2260A>C (p.Thr754Pro)

SNV
Germline

Chr2:47800243

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA009921

rs_545057945

7 SubmittersRCV000160679 RCV000772630 RCV000821022 RCV005600760 RCV003998496

NM_000179.3(MSH6):c.2341C>A (p.Pro781Thr)

SNV
Germline

Chr2:47800324

Conflicting classifications of pathogenicity

not specified
Lynch syndrome 5
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA010074

rs_587779235

4 SubmittersRCV000160680 RCV000659892 RCV000491573 RCV001850271

NM_000179.3(MSH6):c.2417C>G (p.Ser806Cys)

SNV
Germline

Chr2:47800400

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Malignant tumor of breast
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA010210

rs_372990379

12 SubmittersRCV000160717 RCV000570608 RCV000629702 RCV000409643 RCV001354913 RCV001582637 RCV003998511

NM_000179.3(MSH6):c.2664G>C (p.Lys888Asn)

SNV
Germline

Chr2:47800647

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
not specified
Lynch syndrome 5
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA010696

rs_730881798

12 SubmittersRCV000160683 RCV000205971 RCV000759138 RCV000781587 RCV001142302 RCV003998497 RCV003462094

NM_000179.3(MSH6):c.2940A>G (p.Glu980=)

SNV
Germline

Chr2:47800923

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA011134

rs_730881818

13 SubmittersRCV000160724 RCV000679230 RCV000491957 RCV001084653 RCV001142303 RCV003998514

NM_000179.3(MSH6):c.3071G>A (p.Arg1024Gln)

SNV
Germline

Chr2:47801054

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome 5
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA011493

rs_372705506

8 SubmittersRCV000160686 RCV000212674 RCV000411475 RCV000766283 RCV000475900 RCV003998499

NM_000179.3(MSH6):c.3104G>T (p.Arg1035Leu)

SNV
Germline

Chr2:47801087

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Endometrial carcinoma
Lynch syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA011566

rs_730881801

8 SubmittersRCV000160688 RCV000198759 RCV000223597 RCV001175452 RCV003462096 RCV003998500 RCV005420576

NM_000179.3(MSH6):c.3111C>G (p.Phe1037Leu)

SNV
Germline

Chr2:47801094

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA011584

rs_587781673

5 SubmittersRCV000160689 RCV000564450 RCV000691133 RCV005420577

NM_000179.3(MSH6):c.3220A>G (p.Met1074Val)

SNV
Germline

Chr2:47803467

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Endometrial carcinoma
Lynch syndrome
MSH6-related disorder

Criteria Provided
Conflicting Classifications

CA012035

rs_730881804

10 SubmittersRCV000232219 RCV003488409 RCV000562784 RCV000587626 RCV004567218 RCV003998502 RCV004739506

NM_000179.3(MSH6):c.3439-10T>A

SNV
Germline

Chr2:47804900

Conflicting classifications of pathogenicity

not specified
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
MSH6-related disorder
Hereditary cancer-predisposing syndrome
Lynch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA012890

rs_730881819

12 SubmittersRCV000160728 RCV000227561 RCV000410182 RCV004535044 RCV000580444 RCV003998515 RCV003477576

NM_000179.3(MSH6):c.3686A>G (p.Asn1229Ser)

SNV
Germline

Chr2:47806243

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
not specified
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA013811

rs_730881807

9 SubmittersRCV000160697 RCV000564770 RCV000226708 RCV000663071 RCV001175454 RCV003467253 RCV003998504

NM_000179.3(MSH6):c.4039G>C (p.Ala1347Pro)

SNV
Germline

Chr2:47806816

Conflicting classifications of pathogenicity

not specified
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 5
Endometrial carcinoma
Hereditary cancer-predisposing syndrome
Lynch syndrome
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA015325

rs_730881809

11 SubmittersRCV000160703 RCV000229406 RCV000766290 RCV000663168 RCV003462097 RCV000576090 RCV003998506 RCV001798555

NM_000179.3(MSH6):c.4068G>C (p.Leu1356Phe)

SNV
Germline

Chr2:47806845

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 5
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA015417

rs_192740549

9 SubmittersRCV000160704 RCV000168081 RCV000212694 RCV000662520 RCV003330517 RCV003998507

NM_000249.4(MLH1):c.-14C>T

SNV
Germline

Chr3:36993534

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Muir-Torré syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA005596

rs_730881744

5 SubmittersRCV000160546 RCV000776169 RCV005359365 RCV003998467

NM_000249.4(MLH1):c.776T>C (p.Leu259Ser)

SNV
Germline

Chr3:37014530

Conflicting classifications of pathogenicity

Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA012003

rs_56250509

11 SubmittersRCV000160527 RCV000411294 RCV000562377 RCV000525411 RCV000780420 RCV003998465

NM_000249.4(MLH1):c.843A>C (p.Ala281=)

SNV
Germline

Chr3:37017558

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
not specified
Breast and/or ovarian cancer
Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
MLH1-related disorder

Criteria Provided
Conflicting Classifications

CA012580

rs_146796765

16 SubmittersRCV000160556 RCV000586205 RCV001079243 RCV000212527 RCV001798552 RCV003998468 RCV001145068 RCV003952800

NM_000249.4(MLH1):c.1243G>A (p.Asp415Asn)

SNV
Germline

Chr3:37025841

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Breast and/or ovarian cancer
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA004818

rs_373767220

9 SubmittersRCV000160532 RCV000198513 RCV000212533 RCV000515376 RCV003149975 RCV003467246 RCV004806113

NM_000249.4(MLH1):c.1628A>G (p.His543Arg)

SNV
Germline

Chr3:37040255

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
Endometrial carcinoma
Lynch syndrome
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Inherited ovarian cancer (without breast cancer)

Criteria Provided
Conflicting Classifications

CA006185

rs_730881742

11 SubmittersRCV000160537 RCV000206589 RCV000212541 RCV000409504 RCV001354460 RCV003998466 RCV005031674 RCV005237596

NM_000249.4(MLH1):c.2065C>T (p.Gln689Ter)

SNV
Germline

Chr3:37048979

Pathogenic

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA008366

rs_41542214

5 SubmittersRCV000160542 RCV000531300 RCV000708931 RCV002415704 RCV003453267

NM_000535.7(PMS2):c.751G>A (p.Val251Met)

SNV
Germline

Chr7:5997378

Conflicting classifications of pathogenicity

not specified
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome
Lynch syndrome 4
PMS2-related disorder

Criteria Provided
Conflicting Classifications

CA012744

rs_142434011

13 SubmittersRCV000160885 RCV000206870 RCV000587187 RCV000567432 RCV003998523 RCV003462102 RCV003927529

NM_000535.7(PMS2):c.706-13T>C

SNV
Germline

Chr7:5997436

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Lynch syndrome
Malignant tumor of breast
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA012608

rs_730881918

6 SubmittersRCV000160899 RCV001187146 RCV003998527 RCV001354065 RCV005420581

NM_000535.7(PMS2):c.506G>A (p.Arg169His)

SNV
Germline/somatic

Chr7:6002484

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Mismatch repair cancer syndrome 1
Lynch syndrome 4
Lynch syndrome 4
Lynch syndrome
PMS2-related disorder

Criteria Provided
Conflicting Classifications

CA012229

rs_730881917

10 SubmittersRCV000160898 RCV000215633 RCV000465290 RCV000765966 RCV003454388 RCV000758687 RCV003416029

NM_000535.7(PMS2):c.241G>A (p.Glu81Lys)

SNV
Germline

Chr7:6003981

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome 4
Mismatch repair cancer syndrome 4
Lynch syndrome 4
Mismatch repair cancer syndrome 4
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA011475

rs_730881919

15 SubmittersRCV000160904 RCV000206458 RCV000575606 RCV000781760 RCV000662544 RCV005042321 RCV003315414 RCV003998530

NM_000535.7(PMS2):c.215G>A (p.Gly72Glu)

SNV
Germline

Chr7:6004007

Conflicting classifications of pathogenicity

Lynch syndrome
Condition: not provided
Lynch syndrome 4
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA010938

rs_730881915

9 SubmittersRCV000168187 RCV000656942 RCV000663221 RCV000567463 RCV001316571

NM_000535.7(PMS2):c.2T>A (p.Met1Lys)

SNV
Germline

Chr7:6009018

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 4
Hereditary nonpolyposis colon cancer
Mismatch repair cancer syndrome 1
Lynch syndrome 4
PMS2-related disorder
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA011803

rs_587780059

17 SubmittersRCV000160895 RCV000212834 RCV000500749 RCV000781734 RCV000763593 RCV003407599 RCV005208550 RCV004017444

NM_000179.3(MSH6):c.1668T>C (p.Tyr556=)

SNV
Germline

Chr2:47799651

Conflicting classifications of pathogenicity

Lynch syndrome 5
Hereditary cancer-predisposing syndrome
not specified
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome
MSH6-related disorder

Criteria Provided
Conflicting Classifications

CA009044

rs_730882130

11 SubmittersRCV000161937 RCV000164263 RCV000426588 RCV000627737 RCV001697086 RCV003998535 RCV004544474

NM_000251.3(MSH2):c.-181G>A

SNV
Germline

Chr2:47403011

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Familial cancer of breast
Mismatch repair cancer syndrome 2
Lynch syndrome 1
Muir-Torré syndrome
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA021770

rs_786201698

7 SubmittersRCV000164108 RCV000410088 RCV001346811 RCV001536270 RCV005359463 RCV002492654 RCV004535093

NM_000251.3(MSH2):c.51C>A (p.Val17=)

SNV
Germline

Chr2:47403242

Conflicting classifications of pathogenicity

not specified
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA021282

rs_397515879

7 SubmittersRCV000613219 RCV000920244 RCV000165795 RCV003477619 RCV003995455

NM_000251.3(MSH2):c.74G>A (p.Gly25Asp)

SNV
Germline

Chr2:47403265

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Condition: not provided
Lynch syndrome 1
Lynch syndrome
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA022180

rs_767747378

10 SubmittersRCV000164134 RCV000525136 RCV001193893 RCV001762365 RCV003462126 RCV003995317 RCV005359466

NM_000251.3(MSH2):c.80C>T (p.Pro27Leu)

SNV
Germline

Chr2:47403271

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary breast ovarian cancer syndrome
not specified
Hereditary nonpolyposis colon cancer
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA022338

rs_750746034

13 SubmittersRCV000164692 RCV000412025 RCV000235224 RCV000228123 RCV001374485 RCV003226226 RCV003993847 RCV003995359

NM_000251.3(MSH2):c.89C>T (p.Pro30Leu)

SNV
Germline

Chr2:47403280

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Condition: not provided
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA022507

rs_757892928

10 SubmittersRCV000164508 RCV000233615 RCV000411131 RCV001762369 RCV003114313 RCV004806131

NM_000251.3(MSH2):c.115C>A (p.Arg39=)

SNV
Germline

Chr2:47403306

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Lynch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA017385

rs_786202334

9 SubmittersRCV000165094 RCV000427878 RCV000233469 RCV000663112 RCV003995390 RCV001704201

NM_000251.3(MSH2):c.123C>G (p.Asp41Glu)

SNV
Germline

Chr2:47403314

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1
Lynch syndrome
Malignant tumor of breast

Criteria Provided
Conflicting Classifications

CA017623

rs_761960690

11 SubmittersRCV000166062 RCV000228645 RCV000589227 RCV000662660 RCV003995476 RCV001357474

NM_000251.3(MSH2):c.160G>T (p.Ala54Ser)

SNV
Germline

Chr2:47403351

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
not specified
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA018738

rs_749212640

12 SubmittersRCV000164978 RCV000200570 RCV000663139 RCV000781570 RCV001589031 RCV003995379

NM_000251.3(MSH2):c.376G>A (p.Gly126Ser)

SNV
Germline

Chr2:47410103

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Condition: not provided
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA021086

rs_767371843

8 SubmittersRCV000199020 RCV000166502 RCV000515190 RCV004589798 RCV003995507 RCV004567305

NM_000251.3(MSH2):c.403C>G (p.Leu135Val)

SNV
Germline

Chr2:47410130

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Mismatch repair cancer syndrome 1
Lynch syndrome 1
Muir-Torré syndrome
not specified
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA021133

rs_193096019

14 SubmittersRCV000166792 RCV000546078 RCV000997136 RCV002053989 RCV002267920 RCV002291583 RCV001357296

NM_000251.3(MSH2):c.437G>T (p.Gly146Val)

SNV
Germline

Chr2:47410164

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA021161

rs_772052262

8 SubmittersRCV000166585 RCV000662555 RCV000205937 RCV003995514

NM_000251.3(MSH2):c.606C>G (p.Pro202=)

SNV
Germline

Chr2:47410333

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
not specified
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome
MSH2-related disorder
Mismatch repair cancer syndrome 2
Lynch syndrome 1
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA021556

rs_63750600

13 SubmittersRCV000162431 RCV000281902 RCV000423282 RCV001079211 RCV000524416 RCV003995195 RCV004535052 RCV005394568

NM_000251.3(MSH2):c.820A>G (p.Ile274Val)

SNV
Germline

Chr2:47414296

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1
not specified
Lynch syndrome
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA022377

rs_371944271

13 SubmittersRCV000167160 RCV000198455 RCV000587804 RCV000663108 RCV001248898 RCV003995565 RCV004535135

NM_000251.3(MSH2):c.830T>G (p.Leu277Ter)

SNV
Germline

Chr2:47414306

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA022392

rs_786203424

4 SubmittersRCV000166723 RCV001205245 RCV003454416

NM_000251.3(MSH2):c.964G>A (p.Gly322Ser)

SNV
Germline

Chr2:47416317

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA022638

rs_773301485

11 SubmittersRCV000167081 RCV000199307 RCV000588197 RCV003468799 RCV003995555

NM_000251.3(MSH2):c.968C>T (p.Ser323Phe)

SNV
Germline

Chr2:47416321

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
MSH2-related disorder
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA022667

rs_63750732

11 SubmittersRCV000166896 RCV000590192 RCV000472836 RCV000662856 RCV004535130 RCV003995543

NM_000251.3(MSH2):c.1032G>C (p.Gln344His)

SNV
Germline

Chr2:47416385

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA016922

rs_375799148

5 SubmittersRCV000163983 RCV000473165 RCV003995306 RCV003462124

NM_000251.3(MSH2):c.1043A>G (p.Gln348Arg)

SNV
Germline

Chr2:47416396

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Carcinoma of colon
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA016968

rs_773177076

9 SubmittersRCV000167409 RCV000700524 RCV000410781 RCV001355074 RCV001731496 RCV003128589

NM_000251.3(MSH2):c.1166G>A (p.Arg389Gln)

SNV
Germline

Chr2:47429831

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA017397

rs_757276241

6 SubmittersRCV000167351 RCV000629828 RCV003329248 RCV003444210

NM_000251.3(MSH2):c.1315C>T (p.Pro439Ser)

SNV
Germline

Chr2:47445586

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA017943

rs_786203116

6 SubmittersRCV000166280 RCV000197715 RCV000985794 RCV003995495

NM_000251.3(MSH2):c.1351C>T (p.Gln451Ter)

SNV
Germline

Chr2:47445622

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA018061

rs_786201066

4 SubmittersRCV000162487 RCV000202208 RCV000629700 RCV003454394

NM_000251.3(MSH2):c.1387-4G>C

SNV
Germline

Chr2:47463027

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
MSH2-related disorder
Lynch syndrome 1
not specified

Criteria Provided
Conflicting Classifications

CA018191

rs_376796243

9 SubmittersRCV000162829 RCV000590179 RCV001086424 RCV004535061 RCV005246683 RCV005406860

NM_000251.3(MSH2):c.1413A>C (p.Lys471Asn)

SNV
Germline

Chr2:47463057

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Carcinoma of colon
Lynch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA018242

rs_745874745

7 SubmittersRCV000166506 RCV000629905 RCV001355772 RCV003995508 RCV003477630

NM_000251.3(MSH2):c.1484C>T (p.Thr495Ile)

SNV
Germline

Chr2:47463128

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA018409

rs_756516114

5 SubmittersRCV000164768 RCV000167935 RCV000486548 RCV003995363

NM_000251.3(MSH2):c.1686G>C (p.Glu562Asp)

SNV
Germline

Chr2:47470989

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
not specified
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA019004

rs_786203850

7 SubmittersRCV000167337 RCV000482582 RCV000464235 RCV003995584 RCV005406873 RCV004567342

NM_000251.3(MSH2):c.1706A>G (p.Glu569Gly)

SNV
Germline

Chr2:47471009

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome 1
Lynch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA019085

rs_786201077

10 SubmittersRCV000162561 RCV000168102 RCV000585899 RCV000663034 RCV000761166 RCV004777607

NM_000251.3(MSH2):c.1760-3C>T

SNV
Germline

Chr2:47475022

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA019215

rs_786202843

7 SubmittersRCV000165870 RCV000204380 RCV000759825 RCV003995461 RCV005246726

NM_000251.3(MSH2):c.1784T>G (p.Leu595Arg)

SNV
Germline

Chr2:47475049

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA019291

rs_786201590

4 SubmittersRCV000163932 RCV000554840 RCV001267891

NM_000251.3(MSH2):c.1790A>C (p.Asp597Ala)

SNV
Germline

Chr2:47475055

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Condition: not provided
Lynch syndrome
not specified
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA019316

rs_548407418

14 SubmittersRCV000162476 RCV000167995 RCV000409730 RCV000480972 RCV000708834 RCV000781560 RCV004535054

NM_000251.3(MSH2):c.1828C>T (p.His610Tyr)

SNV
Germline

Chr2:47475093

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA019408

rs_267607980

7 SubmittersRCV000163537 RCV000484226 RCV000657098 RCV000794229 RCV003467279 RCV003995260

NM_000251.3(MSH2):c.1854A>G (p.Pro618=)

SNV
Germline

Chr2:47475119

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1
Lynch syndrome
not specified

Criteria Provided
Conflicting Classifications

CA019442

rs_786203744

9 SubmittersRCV000167180 RCV000195465 RCV001721089 RCV000662377 RCV003995571 RCV004700515

NM_000251.3(MSH2):c.1863A>T (p.Arg621=)

SNV
Germline

Chr2:47475128

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA019465

rs_786203119

8 SubmittersRCV000166283 RCV000679298 RCV003995496 RCV001083110 RCV005246730

NM_000251.3(MSH2):c.1897A>G (p.Ile633Val)

SNV
Germline

Chr2:47475162

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Condition: not provided
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA019526

rs_771695599

11 SubmittersRCV000163067 RCV000168408 RCV000662475 RCV000759104 RCV001804892 RCV003995232

NM_000251.3(MSH2):c.1939G>C (p.Glu647Gln)

SNV
Germline

Chr2:47475204

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA019596

rs_63750078

4 SubmittersRCV000165743 RCV000529191 RCV003332132 RCV004567283

NM_000251.3(MSH2):c.1945G>A (p.Ala649Thr)

SNV
Germline

Chr2:47475210

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA019600

rs_786201822

5 SubmittersRCV000164307 RCV001059239 RCV001762366 RCV003467289

NM_000251.3(MSH2):c.2006-4G>A

SNV
Germline

Chr2:47476363

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
not specified
Condition: not provided
Mismatch repair cancer syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA019756

rs_369853630

13 SubmittersRCV000162418 RCV000409960 RCV000202240 RCV000679300 RCV001198846 RCV001083364

NM_000251.3(MSH2):c.2015T>G (p.Met672Arg)

SNV
Germline

Chr2:47476376

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA019820

rs_786203126

7 SubmittersRCV000166295 RCV000468110 RCV003227685 RCV004567299 RCV003995498

NM_000251.3(MSH2):c.2038C>G (p.Arg680Gly)

SNV
Germline

Chr2:47476399

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA019866

rs_63749932

9 SubmittersRCV000165747 RCV000589676 RCV004567284 RCV000693732 RCV003995449

NM_000251.3(MSH2):c.2043A>G (p.Gln681=)

SNV
Germline

Chr2:47476404

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Breast and/or ovarian cancer
Lynch syndrome
Mismatch repair cancer syndrome 2
Lynch syndrome 1
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA019883

rs_730881763

10 SubmittersRCV000163402 RCV000679301 RCV001085062 RCV005246690 RCV003149999 RCV003995254 RCV005394586

NM_000251.3(MSH2):c.2090G>A (p.Cys697Tyr)

SNV
Germline

Chr2:47476451

Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Breast and/or ovarian cancer

Reviewed By Expert Panel

CA019995

rs_63750398

5 SubmittersRCV000167253 RCV000490613 RCV000817438 RCV001270946

NM_000251.3(MSH2):c.2106G>A (p.Val702=)

SNV
Germline

Chr2:47476467

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA020029

rs_786201108

7 SubmittersRCV000162679 RCV000831558 RCV001140257 RCV003995211 RCV001078875

NM_000251.3(MSH2):c.2271C>T (p.Tyr757=)

SNV
Germline

Chr2:47478332

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Malignant tumor of breast
Lynch syndrome
Breast and/or ovarian cancer
not specified
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA020386

rs_56076152

15 SubmittersRCV000163040 RCV000759113 RCV001080852 RCV001140259 RCV001357863 RCV003995227 RCV001798566 RCV001358733 RCV004535062

NM_000251.3(MSH2):c.2296A>G (p.Ile766Val)

SNV
Germline

Chr2:47478357

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA020456

rs_374399939

7 SubmittersRCV000165690 RCV000202197 RCV000766654 RCV000798203 RCV003462184 RCV004806138

NM_000251.3(MSH2):c.2354A>C (p.His785Pro)

SNV
Germline

Chr2:47478415

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Lynch syndrome
MSH2-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA020494

rs_200252727

12 SubmittersRCV000522265 RCV000165012 RCV000196615 RCV003462160 RCV003995381 RCV004734760 RCV000587565

NM_000251.3(MSH2):c.2528G>A (p.Cys843Tyr)

SNV
Germline

Chr2:47480765

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
not specified
Lynch syndrome
Condition: not provided
Lynch syndrome 1
Muir-Torré syndrome
Mismatch repair cancer syndrome 2

Criteria Provided
Conflicting Classifications

CA020680

rs_747700106

10 SubmittersRCV000166329 RCV000232782 RCV005246733 RCV001194027 RCV003995501 RCV001594863 RCV005396487

NM_000251.3(MSH2):c.2684C>G (p.Pro895Arg)

SNV
Germline

Chr2:47482828

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA020884

rs_786203553

4 SubmittersRCV000166913 RCV000484021 RCV001058479 RCV004567319

NM_000251.3(MSH2):c.2717T>G (p.Ile906Arg)

SNV
Germline

Chr2:47482861

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Malignant tumor of breast
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA020901

rs_587780687

5 SubmittersRCV000167178 RCV000706985 RCV001356340 RCV003995570

NM_000179.3(MSH6):c.10C>T (p.Gln4Ter)

SNV
Germline

Chr2:47783243

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
Mismatch repair cancer syndrome 1
Carcinoma of colon
Endometrial carcinoma
Mismatch repair cancer syndrome 3
Lynch syndrome 5
Breast and/or ovarian cancer
Endometrial carcinoma
MSH6-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA008028

rs_786201042

21 SubmittersRCV000162425 RCV000202232 RCV000199142 RCV000202528 RCV000524100 RCV001254934 RCV001353573 RCV002478495 RCV001798562 RCV003462113 RCV004528905

NM_000179.3(MSH6):c.33C>G (p.Phe11Leu)

SNV
Germline

Chr2:47783266

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
MSH6-related disorder
Lynch syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA012766

rs_747802641

10 SubmittersRCV000166008 RCV001264551 RCV000679237 RCV001085290 RCV004739532 RCV003995471 RCV005420680

NM_000179.3(MSH6):c.43C>T (p.Pro15Ser)

SNV
Germline

Chr2:47783276

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA015522

rs_776745497

6 SubmittersRCV000164343 RCV001795287 RCV000793874 RCV003462130 RCV004806129

NM_000179.3(MSH6):c.147C>T (p.Ala49=)

SNV
Germline

Chr2:47783380

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome 5
Carcinoma of colon
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA008685

rs_768803986

15 SubmittersRCV000163365 RCV000679215 RCV001087499 RCV001192486 RCV001139579 RCV001357225 RCV003995251

NM_000179.3(MSH6):c.148T>C (p.Trp50Arg)

SNV
Germline

Chr2:47783381

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Condition: not provided
not specified
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA008708

rs_374597395

9 SubmittersRCV000166759 RCV000203855 RCV001358151 RCV001548024 RCV002281987 RCV005235077

NM_000179.3(MSH6):c.255C>G (p.Pro85=)

SNV
Germline

Chr2:47783488

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA010396

rs_587779242

8 SubmittersRCV000163956 RCV000421645 RCV000544230 RCV003235081 RCV003995299 RCV005420624

NM_000179.3(MSH6):c.333C>T (p.Tyr111=)

SNV
Germline

Chr2:47790999

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Lynch syndrome
not specified
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided

Criteria Provided
Conflicting Classifications

CA012642

rs_786202772

12 SubmittersRCV000165755 RCV000410069 RCV000226058 RCV000609107 RCV000524171 RCV001706084

NM_000179.3(MSH6):c.503C>G (p.Ala168Gly)

SNV
Germline

Chr2:47795939

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
not specified
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA015744

rs_774162322

10 SubmittersRCV000164360 RCV000662903 RCV000657018 RCV000230583 RCV000485808 RCV003150015

NM_000179.3(MSH6):c.526A>G (p.Met176Val)

SNV
Germline

Chr2:47795962

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
MSH6-related disorder

Criteria Provided
Conflicting Classifications

CA015793

rs_750327994

5 SubmittersRCV000167309 RCV000535861 RCV003995581 RCV004739544

NM_000179.3(MSH6):c.743G>A (p.Arg248Gln)

SNV
Germline

Chr2:47798726

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
not specified
Mismatch repair cancer syndrome 3
Endometrial carcinoma
Lynch syndrome 5
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA016402

rs_764870249

9 SubmittersRCV000164341 RCV000469980 RCV001775642 RCV002228583 RCV005025254 RCV003995335

NM_000179.3(MSH6):c.893G>A (p.Arg298Gln)

SNV
Germline/somatic

Chr2:47798876

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Endometrial carcinoma
Lynch syndrome
not specified
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA016611

rs_765237563

15 SubmittersRCV000165781 RCV000168235 RCV000588989 RCV003468757 RCV000758602 RCV003320582 RCV005420673

NM_000179.3(MSH6):c.980C>G (p.Thr327Ser)

SNV
Germline

Chr2:47798963

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Mismatch repair cancer syndrome 3
MSH6-related disorder
Breast and/or ovarian cancer
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA016745

rs_369568820

12 SubmittersRCV000204780 RCV000479969 RCV000164123 RCV003137692 RCV005359464 RCV004528909 RCV003150013 RCV003995316

NM_000179.3(MSH6):c.989C>A (p.Ser330Ter)

SNV
Germline

Chr2:47798972

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Endometrial carcinoma
Endometrial carcinoma
Mismatch repair cancer syndrome 3
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA016771

rs_786202848

6 SubmittersRCV000165878 RCV001382641 RCV003454409 RCV003468759 RCV005025263

NM_000179.3(MSH6):c.1037C>T (p.Ser346Phe)

SNV
Germline

Chr2:47799020

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome
Condition: not provided
not specified
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA007847

rs_567785169

10 SubmittersRCV000167468 RCV000229553 RCV000657019 RCV000454816 RCV000524097 RCV000662908

NM_000179.3(MSH6):c.1170T>C (p.Asp390=)

SNV
Germline

Chr2:47799153

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
not specified
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
MSH6-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA008223

rs_55882234

10 SubmittersRCV000228538 RCV000602595 RCV000165797 RCV000662624 RCV004535119 RCV001311927

NM_000179.3(MSH6):c.1238G>A (p.Trp413Ter)

SNV
Germline

Chr2:47799221

Pathogenic

Hereditary cancer-predisposing syndrome
Endometrial carcinoma
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA008349

rs_786201049

5 SubmittersRCV000162446 RCV001357169 RCV003454390 RCV001044962 RCV003233476

NM_000179.3(MSH6):c.1295T>C (p.Phe432Ser)

SNV
Germline

Chr2:47799278

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Endometrial carcinoma
not specified
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Hereditary nonpolyposis colon cancer
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA008453

rs_750528093

11 SubmittersRCV000162486 RCV000500646 RCV000582500 RCV000479506 RCV000553513 RCV003995199 RCV004525833 RCV003454393

NM_000179.3(MSH6):c.1347G>A (p.Leu449=)

SNV
Germline

Chr2:47799330

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome 5
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA008523

rs_786201760

9 SubmittersRCV000164216 RCV000534629 RCV000418542 RCV000409350 RCV001704192 RCV003995325

NM_000179.3(MSH6):c.1554C>T (p.Thr518=)

SNV
Germline

Chr2:47799537

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome
MSH6-related disorder
Condition: not provided
Mismatch repair cancer syndrome 3
Endometrial carcinoma
Lynch syndrome 5
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA008774

rs_786201471

11 SubmittersRCV000163707 RCV000205874 RCV000614181 RCV003995275 RCV004739511 RCV001707544 RCV005394591 RCV005420613

NM_000179.3(MSH6):c.1586G>T (p.Gly529Val)

SNV
Germline

Chr2:47799569

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Condition: not provided
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA008825

rs_786201964

7 SubmittersRCV000164520 RCV000204361 RCV003995346 RCV003235082 RCV003462137

NM_000179.3(MSH6):c.1732C>T (p.His578Tyr)

SNV
Germline

Chr2:47799715

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome
not specified
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA009101

rs_768854566

9 SubmittersRCV000164895 RCV000663227 RCV001037948 RCV002255308 RCV003995375 RCV002281982 RCV004567256

NM_000179.3(MSH6):c.1794A>G (p.Lys598=)

SNV
Germline

Chr2:47799777

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome
not specified
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA009223

rs_786201210

8 SubmittersRCV000163091 RCV000458721 RCV001721034 RCV003995233 RCV005237601 RCV005420599

NM_000179.3(MSH6):c.1844G>T (p.Cys615Phe)

SNV
Germline

Chr2:47799827

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
not specified
Lynch syndrome 5
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA009321

rs_730881793

12 SubmittersRCV000165560 RCV000168072 RCV000479956 RCV002469035 RCV005420663 RCV003995427 RCV003462180

NM_000179.3(MSH6):c.1875C>A (p.Ser625=)

SNV
Germline

Chr2:47799858

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA009385

rs_63749886

5 SubmittersRCV000166130 RCV000932654 RCV005420686 RCV004760412

NM_000179.3(MSH6):c.1915G>A (p.Glu639Lys)

SNV
Germline

Chr2:47799898

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Endometrial carcinoma
MSH6-related disorder
Lynch syndrome 5
not specified
Mismatch repair cancer syndrome 3
Endometrial carcinoma
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA009445

rs_143517321

14 SubmittersRCV000164891 RCV000480270 RCV000524126 RCV000200231 RCV003462152 RCV004528912 RCV001094683 RCV000781602 RCV005025258

NM_000179.3(MSH6):c.2168G>C (p.Gly723Ala)

SNV
Germline

Chr2:47800151

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
not specified

Criteria Provided
Conflicting Classifications

CA009788

rs_759403696

6 SubmittersRCV000166842 RCV001552358 RCV003995537 RCV001041140 RCV004567315 RCV001797654

NM_000179.3(MSH6):c.2291C>A (p.Thr764Asn)

SNV
Germline

Chr2:47800274

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 5
Lynch syndrome
not specified
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA009966

rs_561198849

11 SubmittersRCV000163700 RCV000630065 RCV000480884 RCV000662379 RCV003995273 RCV002307420 RCV003462122

NM_000179.3(MSH6):c.2418C>T (p.Ser806=)

SNV
Germline

Chr2:47800401

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA010219

rs_770992427

11 SubmittersRCV000162791 RCV000178055 RCV000590110 RCV001082493 RCV003995219 RCV005420594

NM_000179.3(MSH6):c.2520C>T (p.Ser840=)

SNV
Germline

Chr2:47800503

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA010342

rs_781241667

4 SubmittersRCV000165662 RCV000693525 RCV001284517 RCV005420669

NM_000179.3(MSH6):c.2550C>A (p.Tyr850Ter)

SNV
Germline

Chr2:47800533

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA010381

rs_374230313

3 SubmittersRCV000166285 RCV005089824 RCV003454413

NM_000179.3(MSH6):c.2579C>T (p.Ser860Phe)

SNV
Germline

Chr2:47800562

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA010453

rs_370412074

5 SubmittersRCV000164156 RCV000478111 RCV000693101 RCV003995320

NM_000179.3(MSH6):c.2624T>C (p.Met875Thr)

SNV
Germline

Chr2:47800607

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Condition: not provided
MSH6-related disorder
Lynch syndrome
Endometrial carcinoma
not specified

Criteria Provided
Conflicting Classifications

CA010617

rs_774774596

10 SubmittersRCV000164528 RCV000205577 RCV000662485 RCV001580460 RCV004739521 RCV004806132 RCV003462138 RCV002271437

NM_000179.3(MSH6):c.2701C>T (p.Arg901Cys)

SNV
Germline

Chr2:47800684

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Endometrial carcinoma
Lynch syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA010754

rs_772514245

8 SubmittersRCV000166149 RCV005406872 RCV000456613 RCV001775649 RCV003462201 RCV003995483 RCV005600787

NM_000179.3(MSH6):c.2875C>T (p.Arg959Cys)

SNV
Germline

Chr2:47800858

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Endometrial carcinoma
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA011024

rs_751973865

8 SubmittersRCV000165958 RCV000473325 RCV000214010 RCV003468765 RCV001526922 RCV003995466

NM_000179.3(MSH6):c.2950A>C (p.Asn984His)

SNV
Germline

Chr2:47800933

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
not specified
Lynch syndrome 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA011176

rs_146359682

15 SubmittersRCV000166094 RCV000206584 RCV000524150 RCV003462200 RCV001375566 RCV000662779 RCV000759855

NM_000179.3(MSH6):c.2959A>G (p.Thr987Ala)

SNV
Germline

Chr2:47800942

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Endometrial carcinoma
Mismatch repair cancer syndrome 1
Lynch syndrome 5
Condition: not provided
Endometrial carcinoma
Lynch syndrome 5
Mismatch repair cancer syndrome 3
Endometrial carcinoma
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA011202

rs_746631156

13 SubmittersRCV000166654 RCV000198691 RCV000214752 RCV000764425 RCV000767216 RCV004567308 RCV000662610 RCV005396491

NM_000179.3(MSH6):c.3113A>G (p.Tyr1038Cys)

SNV
Germline

Chr2:47801096

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 5
Mismatch repair cancer syndrome 3
Endometrial carcinoma
Lynch syndrome 5
not specified
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA011594

rs_773357672

8 SubmittersRCV000165541 RCV000483409 RCV000410356 RCV005365081 RCV002267913 RCV000685194

NM_000179.3(MSH6):c.3215G>T (p.Gly1072Val)

SNV
Germline

Chr2:47803462

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA011990

rs_781243845

4 SubmittersRCV000167108 RCV000213713 RCV000805949 RCV003995558

NM_000179.3(MSH6):c.3227G>A (p.Arg1076His)

SNV
Germline/somatic

Chr2:47803474

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Condition: not provided
Lynch syndrome
Endometrial carcinoma
Hereditary nonpolyposis colon cancer

Criteria Provided
Conflicting Classifications

CA012072

rs_779617676

12 SubmittersRCV000165943 RCV000198283 RCV000202247 RCV000588416 RCV000758680 RCV003462194 RCV005237623

NM_000179.3(MSH6):c.3246G>A (p.Pro1082=)

SNV
Germline

Chr2:47803493

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
MSH6-related disorder
Lynch syndrome 5
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA012143

rs_3136351

20 SubmittersRCV000163801 RCV000724321 RCV000202109 RCV001085889 RCV003995283 RCV004535083 RCV000410558 RCV001798576

NM_000179.3(MSH6):c.3246G>C (p.Pro1082=)

SNV
Germline

Chr2:47803493

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA012154

rs_3136351

8 SubmittersRCV000165764 RCV000409954 RCV000231535 RCV001194367 RCV003995454

NM_000179.3(MSH6):c.3328C>T (p.Pro1110Ser)

SNV
Germline

Chr2:47803575

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA012609

rs_374070511

6 SubmittersRCV000166804 RCV000701255 RCV003995533 RCV004719728

NM_000179.3(MSH6):c.3349T>C (p.Cys1117Arg)

SNV
Germline

Chr2:47803596

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Endometrial carcinoma
Mismatch repair cancer syndrome 3
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA012661

rs_786202829

6 SubmittersRCV000165846 RCV001233478 RCV005255571 RCV005031685

NM_000179.3(MSH6):c.3478G>A (p.Val1160Ile)

SNV
Germline

Chr2:47804949

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary nonpolyposis colon cancer
MSH6-related disorder
Lynch syndrome 5
Mismatch repair cancer syndrome 3
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA013029

rs_376799914

17 SubmittersRCV000165060 RCV000201982 RCV000410385 RCV001082754 RCV000656900 RCV003323297 RCV004739524 RCV005396480

NM_000179.3(MSH6):c.3478G>T (p.Val1160Phe)

SNV
Germline

Chr2:47804949

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 5
not specified
Hereditary nonpolyposis colon cancer

Criteria Provided
Conflicting Classifications

CA013053

rs_376799914

9 SubmittersRCV000164110 RCV000466573 RCV000589252 RCV000663282 RCV000506000 RCV005237610

NM_000179.3(MSH6):c.3619C>G (p.His1207Asp)

SNV
Germline

Chr2:47805680

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Mismatch repair cancer syndrome 3
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA013567

rs_760391254

5 SubmittersRCV000484988 RCV000166850 RCV000629789 RCV005396493

NM_000179.3(MSH6):c.3782C>T (p.Ala1261Val)

SNV
Germline

Chr2:47806339

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA014254

rs_773171352

6 SubmittersRCV000165125 RCV000459296 RCV001527033 RCV003995394 RCV004567261

NM_000179.3(MSH6):c.3801+5G>A

SNV
Germline

Chr2:47806363

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA014374

rs_201080919

13 SubmittersRCV000166530 RCV000203730 RCV000524188 RCV000411771 RCV000587152 RCV001260253

NM_000179.3(MSH6):c.3893A>G (p.Tyr1298Cys)

SNV
Germline

Chr2:47806543

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Breast carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA014634

rs_786202520

6 SubmittersRCV000165367 RCV000482477 RCV000630080 RCV001262375 RCV003995412

NM_000179.3(MSH6):c.4000C>T (p.Arg1334Trp)

SNV
Germline

Chr2:47806650

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
not specified
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA015093

rs_773763465

10 SubmittersRCV000163638 RCV000409323 RCV000657088 RCV000198598 RCV001706075 RCV003462121 RCV003995266

NM_000179.3(MSH6):c.4001+5C>G

SNV
Germline

Chr2:47806656

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA015172

rs_786202305

5 SubmittersRCV000165049 RCV001352220 RCV000600753 RCV005420653

NM_000179.3(MSH6):c.4002-4T>C

SNV
Germline

Chr2:47806775

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
MSH6-related disorder

Criteria Provided
Conflicting Classifications

CA015278

rs_370428032

11 SubmittersRCV000164128 RCV000412285 RCV001721060 RCV000859424 RCV000458512 RCV004535094

NM_000179.3(MSH6):c.4068G>A (p.Leu1356=)

SNV
Germline

Chr2:47806845

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Condition: not provided
MSH6-related disorder
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA015408

rs_192740549

7 SubmittersRCV000167043 RCV000870729 RCV001818396 RCV002281065 RCV004535132 RCV005420705

NM_000179.3(MSH6):c.*3T>C

SNV
Germline

Chr2:47806863

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA015085

rs_786203308

4 SubmittersRCV000166555 RCV003477631 RCV005420703

NM_000249.4(MLH1):c.9C>G (p.Phe3Leu)

SNV
Germline

Chr3:36993556

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
not specified

Criteria Provided
Conflicting Classifications

CA013506

rs_779759678

12 SubmittersRCV000165278 RCV000459216 RCV003995409 RCV000483373 RCV002291579 RCV001193240

NM_000249.4(MLH1):c.415C>G (p.Pro139Ala)

SNV
Germline

Chr3:37007025

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA010313

rs_779562531

10 SubmittersRCV000166916 RCV000204264 RCV000521531 RCV000524299 RCV000662504 RCV005365091

NM_000249.4(MLH1):c.452C>T (p.Thr151Met)

SNV
Germline

Chr3:37007062

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Ovarian cancer
Condition: not provided
Lynch syndrome
MLH1-related disorder
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Conflicting Classifications

CA010475

rs_776969475

11 SubmittersRCV000473875 RCV000165547 RCV003153446 RCV001569830 RCV003995426 RCV003398846 RCV003462179

NM_000249.4(MLH1):c.454G>A (p.Val152Met)

SNV
Germline

Chr3:37008814

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Muir-Torré syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA010615

rs_748417604

7 SubmittersRCV000163977 RCV000222401 RCV000540116 RCV003447510 RCV003995305

NM_000249.4(MLH1):c.678A>T (p.Arg226=)

SNV
Germline

Chr3:37014432

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided

Criteria Provided
Conflicting Classifications

CA011645

rs_786203360

4 SubmittersRCV000166637 RCV003995520 RCV003758708 RCV000831367

NM_000249.4(MLH1):c.682C>A (p.Leu228Met)

SNV
Germline

Chr3:37014436

Conflicting classifications of pathogenicity

not specified
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Condition: not provided
MLH1-related disorder
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA011677

rs_751628735

15 SubmittersRCV000202192 RCV000558825 RCV000163166 RCV000409697 RCV000587335 RCV004748610 RCV003995237

NM_000249.4(MLH1):c.1103C>T (p.Ser368Leu)

SNV
Germline/somatic

Chr3:37025701

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
not specified

Criteria Provided
Conflicting Classifications

CA004353

rs_201673334

12 SubmittersRCV000162449 RCV000476166 RCV000483837 RCV000758575 RCV003462116 RCV005434661

NM_000249.4(MLH1):c.1104G>A (p.Ser368=)

SNV
Germline

Chr3:37025702

Conflicting classifications of pathogenicity

Lynch syndrome
not specified
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Conflicting Classifications

CA004360

rs_769364808

13 SubmittersRCV000200033 RCV000432066 RCV000524222 RCV000163950 RCV001284000 RCV000411033

NM_000249.4(MLH1):c.1117G>A (p.Gly373Arg)

SNV
Germline

Chr3:37025715

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
Colorectal cancer, hereditary nonpolyposis, type 2
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Lynch syndrome
not specified
Colorectal cancer, hereditary nonpolyposis, type 2
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA004380

rs_766904735

15 SubmittersRCV000166495 RCV000226857 RCV000484742 RCV000662540 RCV000764487 RCV000708919 RCV005230017 RCV005361016

NM_000249.4(MLH1):c.1191G>A (p.Leu397=)

SNV
Germline

Chr3:37025789

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
not specified
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Conflicting Classifications

CA004669

rs_35164771

8 SubmittersRCV000165602 RCV001709508 RCV000536405 RCV003995438 RCV001193242 RCV005246723

NM_000249.4(MLH1):c.1236C>T (p.Val412=)

SNV
Germline

Chr3:37025834

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Muir-Torré syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA004803

rs_369576099

8 SubmittersRCV000163670 RCV001147917 RCV000943642 RCV001704174 RCV005359434 RCV003995269

NM_000249.4(MLH1):c.1415G>A (p.Arg472Lys)

SNV
Germline

Chr3:37028789

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome
MLH1-related disorder
Colorectal cancer, hereditary nonpolyposis, type 2
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA005379

rs_63750498

9 SubmittersRCV000162406 RCV000541695 RCV000588918 RCV003998540 RCV004748609 RCV003467275 RCV005359389

NM_000249.4(MLH1):c.1487C>T (p.Pro496Leu)

SNV
Germline

Chr3:37028861

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Colorectal cancer, hereditary nonpolyposis, type 2
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA005541

rs_63750226

15 SubmittersRCV000164380 RCV000473679 RCV000455152 RCV000662426 RCV001529648 RCV003995339

NM_000249.4(MLH1):c.1514G>A (p.Ser505Asn)

SNV
Germline

Chr3:37028888

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome
not specified
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Conflicting Classifications

CA005635

rs_771044689

13 SubmittersRCV000164523 RCV000205482 RCV000481882 RCV000708926 RCV001526980 RCV000663072

NM_000249.4(MLH1):c.1558+4C>T

SNV
Germline/somatic

Chr3:37028936

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA005849

rs_531873434

6 SubmittersRCV000167439 RCV000199499 RCV000418566 RCV000758645 RCV001535409

NM_000249.4(MLH1):c.1572G>T (p.Met524Ile)

SNV
Germline

Chr3:37040199

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
Muir-Torré syndrome
Mismatch repair cancer syndrome 1
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified

Criteria Provided
Conflicting Classifications

CA005977

rs_587779953

9 SubmittersRCV000167029 RCV000521886 RCV000663082 RCV000764494 RCV003995549 RCV000459950 RCV003987389

NM_000249.4(MLH1):c.1620G>A (p.Leu540=)

SNV
Germline

Chr3:37040247

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome
not specified

Criteria Provided
Conflicting Classifications

CA006151

rs_786202409

7 SubmittersRCV000165205 RCV000547299 RCV001149458 RCV003995403 RCV004596086

NM_000249.4(MLH1):c.1667G>C (p.Ser556Thr)

SNV
Germline

Chr3:37040294

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Familial cancer of breast
Hereditary nonpolyposis colon cancer
Muir-Torré syndrome
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA006285

rs_63751596

9 SubmittersRCV000164556 RCV000822496 RCV002463655 RCV005237615 RCV005359479 RCV003477610 RCV004806133

NM_000249.4(MLH1):c.1690C>T (p.Leu564Phe)

SNV
Germline

Chr3:37042290

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
not specified
Lynch syndrome
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Conflicting Classifications

CA006418

rs_786202693

13 SubmittersRCV000165630 RCV000478918 RCV000229336 RCV000662425 RCV001800495 RCV003995440 RCV005396484

NM_000249.4(MLH1):c.1743G>A (p.Pro581=)

SNV
Germline

Chr3:37047530

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
not specified
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
MLH1-related disorder
Lynch syndrome
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Conflicting Classifications

CA006676

rs_567838745

13 SubmittersRCV000165449 RCV000662457 RCV000420605 RCV000759810 RCV001084862 RCV003975235 RCV003995418 RCV005359508

NM_000249.4(MLH1):c.1770A>C (p.Leu590Phe)

SNV
Germline

Chr3:37047557

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome
Mismatch repair cancer syndrome 1
Colorectal cancer, hereditary nonpolyposis, type 2
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA006853

rs_769239969

7 SubmittersRCV000164192 RCV000685901 RCV003441761 RCV005420634 RCV003995322 RCV005396467

NM_000249.4(MLH1):c.2094A>G (p.Ser698=)

SNV
Germline

Chr3:37049008

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA008580

rs_786202433

8 SubmittersRCV000165242 RCV000226776 RCV000420728 RCV005246718 RCV003995408

NM_000535.7(PMS2):c.*3G>A

SNV
Germline

Chr7:5973396

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Lynch syndrome 4
Hereditary breast ovarian cancer syndrome
PMS2-related disorder

Criteria Provided
Conflicting Classifications

CA012074

rs_776493195

9 SubmittersRCV000165323 RCV000506179 RCV000589954 RCV005420659 RCV004786465 RCV004742292

NM_000535.7(PMS2):c.*2C>T

SNV
Germline

Chr7:5973397

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA011793

rs_764124442

6 SubmittersRCV000167363 RCV000507661 RCV001552440 RCV005425781

NM_000535.7(PMS2):c.2506G>T (p.Glu836Ter)

SNV
Germline

Chr7:5973482

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Hereditary nonpolyposis colon cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA011600

rs_786201039

6 SubmittersRCV000162416 RCV000657711 RCV001066692 RCV003454389 RCV003317111

NM_000535.7(PMS2):c.2457G>T (p.Gly819=)

SNV
Germline

Chr7:5973531

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Mismatch repair cancer syndrome 4
Lynch syndrome 4
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA011535

rs_786203315

4 SubmittersRCV000166569 RCV000793206 RCV005365087 RCV005425773

NM_000535.7(PMS2):c.2445G>A (p.Ser815=)

SNV
Germline

Chr7:5977588

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 4
Hereditary nonpolyposis colorectal neoplasms
not specified
Breast and/or ovarian cancer
Mismatch repair cancer syndrome 4
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA011510

rs_753199796

12 SubmittersRCV000163748 RCV000859086 RCV000987819 RCV001084869 RCV001420820 RCV003492679 RCV005394592

NM_000535.7(PMS2):c.2347G>A (p.Val783Ile)

SNV
Germline

Chr7:5977686

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA011316

rs_553286217

12 SubmittersRCV000165312 RCV000222502 RCV000230774 RCV000662655 RCV000767022 RCV001354621

NM_000535.7(PMS2):c.2247T>A (p.Asn749Lys)

SNV
Germline

Chr7:5978624

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA011125

rs_200824831

7 SubmittersRCV000165433 RCV000461355 RCV000759199 RCV003454404

NM_000535.7(PMS2):c.2174C>T (p.Ala725Val)

SNV
Germline

Chr7:5982824

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Lynch syndrome
not specified
Endometrial carcinoma
Mismatch repair cancer syndrome 4

Criteria Provided
Conflicting Classifications

CA010984

rs_150630090

12 SubmittersRCV000164743 RCV000486892 RCV000206423 RCV000410095 RCV000761045 RCV000781746 RCV001358129 RCV004786458

NM_000535.7(PMS2):c.1981G>T (p.Glu661Ter)

SNV
Germline

Chr7:5986784

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA010597

rs_778531080

5 SubmittersRCV000165222 RCV001201579 RCV003454403 RCV004721281

NM_000535.7(PMS2):c.1980C>T (p.Ala660=)

SNV
Germline

Chr7:5986785

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Lynch syndrome 4
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA010587

rs_368928783

11 SubmittersRCV000163931 RCV000436373 RCV000587189 RCV000196833 RCV003995296 RCV001084012

NM_000535.7(PMS2):c.1929G>T (p.Gln643His)

SNV
Germline

Chr7:5986836

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA010468

rs_786203379

6 SubmittersRCV000166658 RCV000549602 RCV000218174 RCV004567309

NM_000535.7(PMS2):c.1717A>T (p.Thr573Ser)

SNV
Germline

Chr7:5987048

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
not specified
Mismatch repair cancer syndrome 4
Condition: not provided
Lynch syndrome
Mismatch repair cancer syndrome 4
Lynch syndrome 4
Breast and/or ovarian cancer
PMS2-related disorder

Criteria Provided
Conflicting Classifications

CA010161

rs_63751211

15 SubmittersRCV000163099 RCV000199342 RCV000410142 RCV000781750 RCV005359407 RCV000512920 RCV003995234 RCV005031677 RCV003149997 RCV003407602

NM_000535.7(PMS2):c.1715C>T (p.Ala572Val)

SNV
Germline

Chr7:5987050

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 4
not specified
Lynch syndrome
PMS2-related disorder

Criteria Provided
Conflicting Classifications

CA010152

rs_770625733

10 SubmittersRCV000167204 RCV000537772 RCV000679353 RCV001824658 RCV002465554 RCV003995573 RCV004742297

NM_000535.7(PMS2):c.1714G>A (p.Ala572Thr)

SNV
Germline

Chr7:5987051

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 4
not specified
Breast and/or ovarian cancer
Mismatch repair cancer syndrome 4
Lynch syndrome
Lynch syndrome
Mismatch repair cancer syndrome 4
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA010143

rs_63751023

13 SubmittersRCV000513405 RCV000165566 RCV000662642 RCV001193214 RCV003150024 RCV003483538 RCV003995430 RCV005031683

NM_000535.7(PMS2):c.1705A>G (p.Thr569Ala)

SNV
Germline

Chr7:5987060

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Condition: not provided
PMS2-related disorder
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA010109

rs_762151417

9 SubmittersRCV000164382 RCV000231487 RCV003150960 RCV003223615 RCV003416035 RCV003995340

NM_000535.7(PMS2):c.1632C>A (p.Asp544Glu)

SNV
Germline

Chr7:5987133

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA009953

rs_786203439

5 SubmittersRCV000166744 RCV000525179 RCV003332134 RCV005361024

NM_000535.7(PMS2):c.1577A>G (p.Asp526Gly)

SNV
Germline

Chr7:5987188

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
not specified
Mismatch repair cancer syndrome 4
Lynch syndrome 4
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA009897

rs_143235330

9 SubmittersRCV000166743 RCV000462922 RCV000483914 RCV000780624 RCV005042341 RCV004567313

NM_000535.7(PMS2):c.1559C>T (p.Ala520Val)

SNV
Germline

Chr7:5987206

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Mismatch repair cancer syndrome 1
Lynch syndrome 4
not specified
Breast and/or ovarian cancer
Lynch syndrome 4
Mismatch repair cancer syndrome 4
Lynch syndrome 4
Condition: not provided
Lynch syndrome 5
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA009861

rs_63751300

17 SubmittersRCV000164554 RCV000200307 RCV000515358 RCV000781744 RCV001798585 RCV000411039 RCV005396474 RCV000486349 RCV003338434 RCV003995349

NM_000535.7(PMS2):c.1519A>G (p.Ser507Gly)

SNV
Germline

Chr7:5987246

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA009797

rs_63751028

5 SubmittersRCV000165919 RCV000532007 RCV001775646 RCV003995464

NM_000535.7(PMS2):c.1444A>G (p.Ser482Gly)

SNV
Germline

Chr7:5987321

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA009691

rs_786203510

6 SubmittersRCV000166845 RCV000522983 RCV000474121 RCV003995538

NM_000535.7(PMS2):c.1432A>G (p.Ser478Gly)

SNV
Germline

Chr7:5987333

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Condition: not provided
Malignant tumor of breast
Lynch syndrome 4
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA009665

rs_144389038

9 SubmittersRCV000166020 RCV000200794 RCV000423126 RCV001721076 RCV001354397 RCV000987830 RCV003995472

NM_000535.7(PMS2):c.1417G>A (p.Glu473Lys)

SNV
Germline

Chr7:5987348

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome
Lynch syndrome 4
Mismatch repair cancer syndrome 4

Criteria Provided
Conflicting Classifications

CA009646

rs_786203427

6 SubmittersRCV000166727 RCV000630121 RCV002466458 RCV003995528 RCV005042340

NM_000535.7(PMS2):c.1394A>G (p.Lys465Arg)

SNV
Germline

Chr7:5987371

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA009618

rs_141084758

8 SubmittersRCV000165567 RCV000662635 RCV000546976 RCV003995431 RCV004794370

NM_000535.7(PMS2):c.1372A>C (p.Thr458Pro)

SNV
Germline

Chr7:5987393

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA009572

rs_779306532

6 SubmittersRCV000164358 RCV000486161 RCV000703974 RCV003230260 RCV003995336

NM_000535.7(PMS2):c.1364C>T (p.Ser455Phe)

SNV
Germline

Chr7:5987401

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA009556

rs_748698776

9 SubmittersRCV000167069 RCV000226423 RCV000454673 RCV001753568 RCV003995554

NM_000535.7(PMS2):c.1344A>T (p.Gly448=)

SNV
Germline

Chr7:5987421

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4
not specified
Lynch syndrome
Condition: not provided
Mismatch repair cancer syndrome 4
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA009531

rs_759192470

11 SubmittersRCV000229726 RCV000164596 RCV005425768 RCV000442013 RCV003995352 RCV000998766 RCV005396476

NM_000535.7(PMS2):c.1303C>T (p.His435Tyr)

SNV
Germline

Chr7:5987462

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA009489

rs_148956636

6 SubmittersRCV000164657 RCV000168171 RCV001582647 RCV003467302

NM_000535.7(PMS2):c.1280G>A (p.Arg427His)

SNV
Germline

Chr7:5987485

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome 4
Condition: not provided
Mismatch repair cancer syndrome 4
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA009478

rs_112902065

11 SubmittersRCV000164844 RCV000206128 RCV000433523 RCV000987833 RCV001358227 RCV002485018

NM_000535.7(PMS2):c.1268C>G (p.Ala423Gly)

SNV
Germline

Chr7:5987497

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 4
not specified
Mismatch repair cancer syndrome 4
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA009455

rs_756883400

14 SubmittersRCV000524430 RCV000164345 RCV000657013 RCV000234512 RCV000486789 RCV005042328

NM_000535.7(PMS2):c.1170G>A (p.Ala390=)

SNV
Germline

Chr7:5987595

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Condition: not provided
Breast and/or ovarian cancer
Mismatch repair cancer syndrome 4
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA009278

rs_755578413

15 SubmittersRCV000781743 RCV000164461 RCV001080100 RCV001162266 RCV000232574 RCV003150016 RCV005396471

NM_000535.7(PMS2):c.1080A>G (p.Ile360Met)

SNV
Germline

Chr7:5989864

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 4
PMS2-related disorder

Criteria Provided
Conflicting Classifications

CA009178

rs_567102013

12 SubmittersRCV000165734 RCV000217127 RCV001083209 RCV000656945 RCV000411319 RCV003907523

NM_000535.7(PMS2):c.944G>A (p.Arg315Gln)

SNV
Germline

Chr7:5992017

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome
Lynch syndrome 4
Hereditary nonpolyposis colorectal neoplasms
not specified
Condition: not provided
Lynch syndrome 4
Mismatch repair cancer syndrome 4
Breast and/or ovarian cancer
PMS2-related disorder

Criteria Provided
Conflicting Classifications

CA013345

rs_116314131

20 SubmittersRCV000163216 RCV000197131 RCV000412322 RCV000524485 RCV000780629 RCV000679365 RCV002492646 RCV003492673 RCV003389705

NM_000535.7(PMS2):c.924G>C (p.Glu308Asp)

SNV
Germline

Chr7:5992037

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Malignant tumor of breast
Breast and/or ovarian cancer
Lynch syndrome 4
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA013290

rs_114185660

14 SubmittersRCV000165430 RCV000471981 RCV000481332 RCV001356004 RCV001798589 RCV003462172 RCV001193854 RCV003995415

NM_000535.7(PMS2):c.809C>G (p.Ser270Ter)

SNV
Germline

Chr7:5995628

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 4
Hereditary nonpolyposis colon cancer
Mismatch repair cancer syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA012910

rs_786201047

11 SubmittersRCV000162437 RCV000629674 RCV000657645 RCV001262168 RCV001192582 RCV005365055

NM_000535.7(PMS2):c.784G>A (p.Ala262Thr)

SNV
Germline

Chr7:5997345

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Breast neoplasm
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA012842

rs_779625900

7 SubmittersRCV000167024 RCV000481531 RCV000707037 RCV001262425 RCV003995548

NM_000535.7(PMS2):c.765C>A (p.Tyr255Ter)

SNV
Germline

Chr7:5997364

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
PMS2-related disorder
Mismatch repair cancer syndrome 4
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA012753

rs_573125799

16 SubmittersRCV000162412 RCV000168447 RCV000413496 RCV000627717 RCV003147375 RCV003407601 RCV005042322

NM_000535.7(PMS2):c.735G>T (p.Leu245=)

SNV
Germline

Chr7:5997394

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA012689

rs_373366661

8 SubmittersRCV000166111 RCV000828397 RCV001087207 RCV003235086 RCV003995480 RCV005420685

NM_000535.7(PMS2):c.687T>C (p.Ser229=)

SNV
Germline

Chr7:5999126

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA012533

rs_786201508

7 SubmittersRCV000659069 RCV000163775 RCV001084511 RCV003995281 RCV005425762

NM_000535.7(PMS2):c.608C>G (p.Thr203Ser)

SNV
Germline

Chr7:5999205

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Mismatch repair cancer syndrome 4
Lynch syndrome
not specified
Lynch syndrome 4
PMS2-related disorder
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA012411

rs_779946576

12 SubmittersRCV000166541 RCV000509403 RCV000463624 RCV003483547 RCV002267919 RCV003462217 RCV003954985 RCV003995510

NM_000535.7(PMS2):c.595C>T (p.Arg199Cys)

SNV
Germline/somatic

Chr7:5999218

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Condition: not provided
not specified
PMS2-related disorder
Mismatch repair cancer syndrome 4
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA012356

rs_372297364

17 SubmittersRCV000167249 RCV000758686 RCV000233931 RCV000410857 RCV000512735 RCV000722125 RCV003927555 RCV005396495

NM_000535.7(PMS2):c.354C>T (p.Ser118=)

SNV
Germline

Chr7:6002636

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Breast and/or ovarian cancer
Lynch syndrome 4
not specified

Criteria Provided
Conflicting Classifications

CA011977

rs_760615315

11 SubmittersRCV000165593 RCV000587468 RCV000630377 RCV003995437 RCV003150025 RCV005420664 RCV003479038

NM_000535.7(PMS2):c.354-1G>A

SNV
Germline

Chr7:6002637

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA011931

rs_786203954

6 SubmittersRCV000167479 RCV001850369 RCV003328562 RCV003333740

NM_000535.7(PMS2):c.354-2A>G

SNV
Germline

Chr7:6002638

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 4
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA011940

rs_786202098

10 SubmittersRCV000164744 RCV000552914 RCV000759205 RCV003454400 RCV003995362

NM_000535.7(PMS2):c.251-2A>T

SNV
Germline

Chr7:6003794

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome
Condition: not provided
Lynch syndrome 4
Hereditary nonpolyposis colorectal neoplasms
Mismatch repair cancer syndrome 1
Lynch syndrome 4
Hereditary nonpolyposis colon cancer
Breast and/or ovarian cancer
PMS2-related disorder
Inherited MMR deficiency (Lynch syndrome)

Criteria Provided
Multiple Submitters
No Conflicts

CA011631

rs_587779340

19 SubmittersRCV000162757 RCV000205731 RCV000216802 RCV000515494 RCV000524468 RCV000763591 RCV001255210 RCV003149993 RCV004742289 RCV005252784

NM_000535.7(PMS2):c.197T>C (p.Ile66Thr)

SNV
Germline

Chr7:6004025

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 4
Lynch syndrome
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA010578

rs_769554577

13 SubmittersRCV000165451 RCV000197855 RCV000759917 RCV000662452 RCV003995419 RCV003150022

NM_000535.7(PMS2):c.164-1G>C

SNV
Germline

Chr7:6004059

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA009964

rs_763308607

11 SubmittersRCV000165585 RCV000576564 RCV000484767 RCV000792721 RCV003995434

NM_000535.7(PMS2):c.113C>T (p.Ala38Val)

SNV
Germline

Chr7:6005942

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 4
Mismatch repair cancer syndrome 4
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
not specified
Lynch syndrome 4
Breast and/or ovarian cancer
PMS2-related disorder

Criteria Provided
Conflicting Classifications

CA009226

rs_148270248

13 SubmittersRCV000167349 RCV000759911 RCV002478518 RCV000229343 RCV003995585 RCV005437972 RCV000987853 RCV003150031 RCV004724963

NM_000535.7(PMS2):c.89A>G (p.Gln30Arg)

SNV
Germline

Chr7:6005966

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA013191

rs_56203955

10 SubmittersRCV000164904 RCV000410641 RCV000198290 RCV000482199 RCV002247569 RCV003995377

NM_000535.7(PMS2):c.-4A>G

SNV
Germline

Chr7:6009023

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA012197

rs_544503598

6 SubmittersRCV000166563 RCV000406414 RCV001704221 RCV003995513

NM_000251.3(MSH2):c.67T>C (p.Phe23Leu)

SNV
Germline

Chr2:47403258

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Malignant tumor of breast
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA021742

rs_372619120

14 SubmittersRCV000213945 RCV000417652 RCV000759120 RCV000986642 RCV001083940 RCV001358277 RCV003491920

NM_000251.3(MSH2):c.174C>A (p.Phe58Leu)

SNV
Germline

Chr2:47403365

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA019166

rs_372189599

9 SubmittersRCV000168388 RCV000508172 RCV000568410 RCV004767115 RCV003995625 RCV003468832

NM_000251.3(MSH2):c.491G>A (p.Gly164Glu)

SNV
Germline

Chr2:47410218

Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Lynch syndrome 1

Reviewed By Expert Panel

CA021218

rs_786204082

4 SubmittersRCV000167977 RCV000223301 RCV000240465 RCV003454423

NM_000251.3(MSH2):c.956A>T (p.Asp319Val)

SNV
Germline

Chr2:47416309

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA022616

rs_786204185

5 SubmittersRCV000168245 RCV001019487 RCV003995617

NM_000251.3(MSH2):c.1070A>C (p.Glu357Ala)

SNV
Germline

Chr2:47416423

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA017027

rs_150503781

11 SubmittersRCV000168008 RCV000568153 RCV000236761 RCV000662371 RCV001553594 RCV003995602

NM_000251.3(MSH2):c.1442T>A (p.Leu481Ter)

SNV
Germline

Chr2:47463086

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA018278

rs_786203036

2 SubmittersRCV001386660 RCV003454424

NM_000251.3(MSH2):c.1670C>G (p.Thr557Ser)

SNV
Germline

Chr2:47470973

Conflicting classifications of pathogenicity

Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA018965

rs_139920308

4 SubmittersRCV000168437 RCV001012659 RCV001034658 RCV004806153

NM_000251.3(MSH2):c.2354A>G (p.His785Arg)

SNV
Germline

Chr2:47478415

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Colorectal cancer
not specified
Lynch syndrome 1
Lynch syndrome
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA020496

rs_200252727

11 SubmittersRCV000168313 RCV000213407 RCV000589584 RCV000735967 RCV001580463 RCV003462262 RCV003995623 RCV004734764

NM_000251.3(MSH2):c.2393A>G (p.Asn798Ser)

SNV
Germline

Chr2:47478454

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA020537

rs_786204073

6 SubmittersRCV000167962 RCV000773069 RCV000986688 RCV001762391 RCV004806152

NM_000179.3(MSH6):c.533G>A (p.Arg178His)

SNV
Germline

Chr2:47795969

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Malignant tumor of breast
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA015812

rs_786204186

12 SubmittersRCV000168249 RCV000411795 RCV000220140 RCV000781571 RCV000759151 RCV001355537 RCV003468827 RCV003995618

NM_000179.3(MSH6):c.956C>T (p.Thr319Met)

SNV
Germline

Chr2:47798939

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 5
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA016673

rs_188252826

9 SubmittersRCV000168389 RCV000220509 RCV000656996 RCV003316071 RCV003995626

NM_000179.3(MSH6):c.1498G>A (p.Ala500Thr)

SNV
Germline

Chr2:47799481

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA008716

rs_786204127

8 SubmittersRCV000168089 RCV000578381 RCV000657123 RCV001011904

NM_000179.3(MSH6):c.2203C>A (p.Leu735Ile)

SNV
Germline

Chr2:47800186

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 5
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA009870

rs_786204071

8 SubmittersRCV000167959 RCV000491880 RCV000759851 RCV000409734 RCV003468820 RCV003995600

NM_000179.3(MSH6):c.3711G>C (p.Glu1237Asp)

SNV
Germline

Chr2:47806268

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA013945

rs_754289472

3 SubmittersRCV001020953 RCV001373676 RCV003995614

NM_000179.3(MSH6):c.4005A>C (p.Glu1335Asp)

SNV
Germline

Chr2:47806782

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Lynch syndrome
Endometrial carcinoma
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA015307

rs_786204130

12 SubmittersRCV000168100 RCV000213342 RCV000663216 RCV003995607 RCV003462256 RCV001800508 RCV003987391

NM_000249.4(MLH1):c.319A>G (p.Ile107Val)

SNV
Germline

Chr3:37004413

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Conflicting Classifications

CA009774

rs_572906317

8 SubmittersRCV000167889 RCV000586116 RCV000583427 RCV001357822 RCV005031688

NM_000249.4(MLH1):c.1359G>C (p.Lys453Asn)

SNV
Germline

Chr3:37025957

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Conflicting Classifications

CA005076

rs_756099600

10 SubmittersRCV000167968 RCV000214998 RCV000590046 RCV004567360 RCV003995601 RCV005361046

NM_000535.7(PMS2):c.1901A>G (p.His634Arg)

SNV
Germline

Chr7:5986864

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA010440

rs_767904893

8 SubmittersRCV000168211 RCV000220002 RCV003318558 RCV003995612

NM_000535.7(PMS2):c.1828A>G (p.Lys610Glu)

SNV
Germline

Chr7:5986937

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Lynch syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA010309

rs_199700509

11 SubmittersRCV000168273 RCV000486825 RCV000574365 RCV003468829 RCV003995619 RCV004668829

NM_000535.7(PMS2):c.1819G>A (p.Val607Ile)

SNV
Germline

Chr7:5986946

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA010297

rs_786204109

7 SubmittersRCV000168042 RCV000482215 RCV000562276 RCV004786481 RCV003995603

NM_000535.7(PMS2):c.433C>A (p.Gln145Lys)

SNV
Germline

Chr7:6002557

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA012095

rs_786204133

7 SubmittersRCV000168105 RCV000222089 RCV000585952 RCV003995608

NM_015272.5(RPGRIP1L):c.230+1G>A

SNV
Germline

Chr16:53696150

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome 7
Meckel syndrome, type 5
COACH syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA334279

rs_786204135

3 SubmittersRCV000168110 RCV001378306 RCV001536099

NM_000251.3(MSH2):c.1984C>T (p.Gln662Ter)

SNV
Germline

Chr2:47475249

Pathogenic/Likely pathogenic

Carcinoma of colon
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA019647

rs_786204321

6 SubmittersRCV000168729 RCV000480108 RCV001239760 RCV001192611 RCV002415717 RCV003454427

NM_000249.4(MLH1):c.791-1G>A

SNV
Germline

Chr3:37017505

Pathogenic/Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA012269

rs_267607795

5 SubmittersRCV000168716 RCV000692531 RCV003454426 RCV002415716

NM_001379500.1(COL18A1):c.2743C>T (p.Arg915Ter)

SNV
Germline

Chr21:45504431

Pathogenic/Likely pathogenic

Condition: not provided
Knobloch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA236429

rs_753824908

5 SubmittersRCV000171509 RCV004796065

NM_174934.4(SCN4B):c.617C>T (p.Ser206Leu)

SNV
Germline

Chr11:118137097

Conflicting classifications of pathogenicity

SUDDEN INFANT DEATH SYNDROME
Condition: not provided
Long QT syndrome 10
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA199796

rs_140348243

5 SubmittersRCV000171568 RCV000490150 RCV000234662 RCV002354426

NM_000249.4(MLH1):c.37G>A (p.Glu13Lys)

SNV
Germline

Chr3:36993584

Conflicting classifications of pathogenicity

Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Malignant tumor of breast
Condition: not provided
not specified
Lynch syndrome
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA010013

rs_587779008

12 SubmittersRCV000172808 RCV000220749 RCV000629831 RCV000662433 RCV001355919 RCV002472961 RCV003150964 RCV003995677 RCV003150044

NM_000535.7(PMS2):c.2182A>G (p.Thr728Ala)

SNV
Germline/somatic

Chr7:5978689

Conflicting classifications of pathogenicity

Lynch syndrome 1
not specified
Hereditary cancer-predisposing syndrome
Lynch syndrome
Malignant tumor of breast
Breast and/or ovarian cancer
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided

Criteria Provided
Conflicting Classifications

CA011001

rs_141893001

12 SubmittersRCV000172820 RCV000239355 RCV000567860 RCV000758628 RCV001357402 RCV001798624 RCV000555261 RCV004706609

NM_000535.7(PMS2):c.2002A>G (p.Ile668Val)

SNV
Germline

Chr7:5986763

Pathogenic/Likely pathogenic

Mismatch repair cancer syndrome 4
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Lynch syndrome 4
Mismatch repair cancer syndrome 4
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA358701

rs_869320619

9 SubmittersRCV000172908 RCV000630142 RCV001284205 RCV001179765 RCV001804905 RCV003454446 RCV005396516

NM_015272.5(RPGRIP1L):c.1156A>G (p.Lys386Glu)

SNV
Germline

Chr16:53664957

Conflicting classifications of pathogenicity

Meckel syndrome, type 5
Joubert syndrome 7
Nephronophthisis 8
Joubert syndrome
Meckel-Gruber syndrome
Condition: not provided
Meckel syndrome, type 5
COACH syndrome 1
Joubert syndrome 7
Joubert syndrome
Inborn genetic diseases
RPGRIP1L-related disorder
Optic atrophy

Criteria Provided
Conflicting Classifications

CA239324

rs_137982921

13 SubmittersRCV000339807 RCV000401583 RCV000307599 RCV000697464 RCV000724780 RCV000765297 RCV001271337 RCV002516602 RCV004539604 RCV004816258

NM_000535.7(PMS2):c.2127C>T (p.Phe709=)

SNV
Germline

Chr7:5982871

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Hereditary nonpolyposis colorectal neoplasms
Breast and/or ovarian cancer
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA010873

rs_199943748

14 SubmittersRCV000213544 RCV000588071 RCV000855625 RCV001085912 RCV003150046 RCV005361067

NM_001378615.1(CC2D2A):c.1837G>A (p.Glu613Lys)

SNV
Germline

Chr4:15537971

Conflicting classifications of pathogenicity

Condition: not provided
COACH syndrome 1
Joubert syndrome 9
Meckel syndrome, type 6
Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 6
Joubert syndrome 9
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA240849

rs_201439617

7 SubmittersRCV000724892 RCV000765755 RCV001479910 RCV001147083 RCV001147084 RCV004020077

NM_001378615.1(CC2D2A):c.2039G>A (p.Arg680His)

SNV
Germline

Chr4:15540872

Conflicting classifications of pathogenicity

Condition: not provided
Meckel syndrome, type 6
Joubert syndrome 9
Joubert syndrome
Meckel-Gruber syndrome
COACH syndrome 1
Inborn genetic diseases
CC2D2A-related disorder
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA241005

rs_200236654

8 SubmittersRCV000175281 RCV001145224 RCV001145223 RCV001239969 RCV001329599 RCV004965296 RCV004537379 RCV004816268

NM_000377.3(WAS):c.285G>A (p.Leu95=)

SNV
Germline

ChrX:48685558

Conflicting classifications of pathogenicity

Condition: not provided
Wiskott-Aldrich syndrome
Thrombocytopenia 1
X-linked severe congenital neutropenia
not specified

Criteria Provided
Conflicting Classifications

CA243149

rs_781799471

4 SubmittersRCV000177052 RCV001088097 RCV001818426

NM_000179.3(MSH6):c.742C>G (p.Arg248Gly)

SNV
Germline

Chr2:47798725

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Lynch syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA016385

rs_63749980

8 SubmittersRCV000178052 RCV000215538 RCV000226497 RCV004567381 RCV003996572 RCV005425787

NM_024426.6(WT1):c.1131T>C (p.Pro377=)

SNV
Germline

Chr11:32396390

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Drash syndrome
Frasier syndrome
Wilms tumor 1
11p partial monosomy syndrome
Wilms tumor 1
Meacham syndrome
Nephrotic syndrome, type 4
Hereditary cancer-predisposing syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA016498

rs_151034312

10 SubmittersRCV000179974 RCV000724105 RCV001083625 RCV001107198 RCV001107199 RCV001107200 RCV002255314 RCV004965300

NM_000540.3(RYR1):c.11811G>A (p.Ser3937=)

SNV
Germline

Chr19:38543564

Conflicting classifications of pathogenicity

Condition: not provided
RYR1-related disorder
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Congenital myopathy with fiber type disproportion
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1
not specified

Criteria Provided
Conflicting Classifications

CA023939

rs_794727946

5 SubmittersRCV000180427 RCV001852247 RCV002500520 RCV003996587 RCV004586602

NM_001378615.1(CC2D2A):c.603C>T (p.Pro201=)

SNV
Germline

Chr4:15511309

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
CC2D2A-related disorder
COACH syndrome 2
Retinitis pigmentosa 93
Joubert syndrome 9
Meckel syndrome, type 6

Criteria Provided
Conflicting Classifications

CA248036

rs_556542553

4 SubmittersRCV000180554 RCV001497046 RCV004537512 RCV005031717

NM_000540.3(RYR1):c.12499G>T (p.Glu4167Ter)

SNV
Germline

Chr19:38561329

Pathogenic/Likely pathogenic

Condition: not provided
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Congenital myopathy with fiber type disproportion
King Denborough syndrome
RYR1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA023986

rs_772494345

4 SubmittersRCV000721273 RCV002492793 RCV003591696

NM_000540.3(RYR1):c.13044G>A (p.Ala4348=)

SNV
Germline

Chr19:38565378

Conflicting classifications of pathogenicity

Condition: not provided
RYR1-related disorder
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion

Criteria Provided
Conflicting Classifications

CA024031

rs_794727985

5 SubmittersRCV000180735 RCV000543194 RCV002503701

NM_000540.3(RYR1):c.14304-6C>A

SNV
Germline

Chr19:38578138

Conflicting classifications of pathogenicity

Condition: not provided
RYR1-related disorder
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Congenital myopathy with fiber type disproportion
King Denborough syndrome

Criteria Provided
Conflicting Classifications

CA024125

rs_794728693

3 SubmittersRCV000182600 RCV000702407 RCV002485210

NM_001267550.2(TTN):c.64898G>A (p.Arg21633Gln)

SNV
Germline

Chr2:178584743

Conflicting classifications of pathogenicity

Cardiovascular phenotype
not specified
Condition: not provided
SUDDEN INFANT DEATH SYNDROME

Criteria Provided
Conflicting Classifications

CA310295

rs_141965360

7 SubmittersRCV000619156 RCV001328439 RCV000714068 RCV001788062

NM_000108.5(DLD):c.100A>G (p.Thr34Ala)

SNV
Germline

Chr7:107893260

Conflicting classifications of pathogenicity

Leigh syndrome
Pyruvate dehydrogenase complex deficiency
not specified
Pyruvate dehydrogenase E3 deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA312448

rs_138002793

11 SubmittersRCV000281549 RCV000317845 RCV000367820 RCV000376021 RCV000487629

NM_000108.5(DLD):c.763A>C (p.Met255Leu)

SNV
Germline

Chr7:107915584

Conflicting classifications of pathogenicity

Condition: not provided
Pyruvate dehydrogenase complex deficiency
Leigh syndrome
Pyruvate dehydrogenase E3 deficiency

Criteria Provided
Conflicting Classifications

CA312464

rs_533405046

5 SubmittersRCV000185855 RCV000298315 RCV000408335 RCV001086796

NM_000108.5(DLD):c.788G>A (p.Arg263His)

SNV
Germline

Chr7:107915609

Conflicting classifications of pathogenicity

Pyruvate dehydrogenase E3 deficiency
Condition: not provided
Leigh syndrome
Pyruvate dehydrogenase complex deficiency
Inborn genetic diseases
DLD-related disorder

Criteria Provided
Conflicting Classifications

CA312466

rs_145670503

10 SubmittersRCV000653827 RCV000676803 RCV001161965 RCV001161966 RCV004020251 RCV004545876

NC_012920.1(MT-ND6):m.14597A>G

SNV
Germline

ChrMT:14597

Likely pathogenic

Dystonic disorder
Dysarthria
Mitochondrial disease
Leigh syndrome
not specified

Reviewed By Expert Panel

CA250381

rs_797045055

4 SubmittersRCV000191107 RCV004791314 RCV000855132 RCV002247618

NM_001378615.1(CC2D2A):c.2683C>T (p.Gln895Ter)

SNV
Germline

Chr4:15557361

Pathogenic/Likely pathogenic

Joubert syndrome 9
COACH syndrome 1
Meckel syndrome, type 6
Joubert syndrome 9
Joubert syndrome
Meckel-Gruber syndrome
COACH syndrome 2
Meckel syndrome, type 6
Joubert syndrome 9
Retinitis pigmentosa 93
CC2D2A-related disorder
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA209079

rs_764719093

6 SubmittersRCV000194720 RCV000763523 RCV003765214 RCV005025311 RCV004528978 RCV003238731

NM_153704.6(TMEM67):c.297G>T (p.Lys99Asn)

SNV
Germline

Chr8:93755851

Conflicting classifications of pathogenicity

not specified
Joubert syndrome 6
Joubert syndrome
Meckel-Gruber syndrome
COACH syndrome 1

Criteria Provided
Conflicting Classifications

CA205731

rs_797046045

4 SubmittersRCV000192720 RCV000201747 RCV003765239 RCV004783761

NM_018344.6(SLC29A3):c.73C>T (p.Arg25Ter)

SNV
Germline

Chr10:71322827

Conflicting classifications of pathogenicity

H syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA205085

rs_746408350

4 SubmittersRCV000192336 RCV000488245

NM_000540.3(RYR1):c.14646G>A (p.Thr4882=)

SNV
Germline

Chr19:38580504

Conflicting classifications of pathogenicity

not specified
RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1
Congenital myopathy with fiber type disproportion
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA061474

rs_536148030

5 SubmittersRCV000192736 RCV000706064 RCV002485290 RCV003996907

NM_005006.7(NDUFS1):c.1600G>A (p.Val534Met)

SNV
Germline

Chr2:206130196

Conflicting classifications of pathogenicity

Condition: not provided
Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA319780

rs_201806038

5 SubmittersRCV000195446 RCV001138793 RCV001138792 RCV002515413

NM_001079866.2(BCS1L):c.-43G>A

SNV
Germline

Chr2:218660945

Conflicting classifications of pathogenicity

not specified
Leigh syndrome
Mitochondrial complex III deficiency nuclear type 1
GRACILE syndrome

Criteria Provided
Conflicting Classifications

CA323137

rs_145989550

2 SubmittersRCV000198605 RCV000289306 RCV000341934 RCV000382259

NM_001079866.2(BCS1L):c.126A>G (p.Ala42=)

SNV
Germline

Chr2:218661113

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Leigh syndrome
Mitochondrial complex III deficiency nuclear type 1
GRACILE syndrome

Criteria Provided
Conflicting Classifications

CA325107

rs_144200704

5 SubmittersRCV000200525 RCV000886562 RCV001140093 RCV001140092 RCV001140853

NM_001079866.2(BCS1L):c.613G>A (p.Val205Ile)

SNV
Germline

Chr2:218661911

Conflicting classifications of pathogenicity

BCS1L-related disorder
Mitochondrial complex III deficiency nuclear type 1
not specified
Condition: not provided
GRACILE syndrome
Leigh syndrome

Criteria Provided
Conflicting Classifications

CA325212

rs_148278887

8 SubmittersRCV000714568 RCV001137961 RCV000200623 RCV000949252 RCV001137963 RCV001137962

NM_004544.4(NDUFA10):c.1000-3C>G

SNV
Germline

Chr2:239961189

Conflicting classifications of pathogenicity

Condition: not provided
Mitochondrial complex I deficiency, nuclear type 1
Leigh syndrome

Criteria Provided
Conflicting Classifications

CA324354

rs_199648872

2 SubmittersRCV000199808 RCV000333603 RCV000388170

NM_004544.4(NDUFA10):c.404T>C (p.Leu135Ser)

SNV
Germline

Chr2:240021253

Conflicting classifications of pathogenicity

Condition: not provided
Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 1
Mitochondrial complex I deficiency, nuclear type 22
NDUFA10-related disorder

Criteria Provided
Conflicting Classifications

CA325234

rs_140776586

5 SubmittersRCV000200645 RCV001141067 RCV001141068 RCV002470809 RCV003955191

NM_004544.4(NDUFA10):c.-38T>G

SNV
Germline

Chr2:240025339

Conflicting classifications of pathogenicity

not specified
Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 1

Criteria Provided
Conflicting Classifications

CA324598

rs_374970309

2 SubmittersRCV000200045 RCV001141189 RCV001141188

NM_133259.4(LRPPRC):c.7G>A (p.Ala3Thr)

SNV
Germline

Chr2:43995941

Conflicting classifications of pathogenicity

Leigh syndrome
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
Condition: not provided
LRPPRC-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA324447

rs_200686732

9 SubmittersRCV000986628 RCV001137778 RCV000901776 RCV003937736 RCV002517228

NM_002495.4(NDUFS4):c.-6A>T

SNV
Germline

Chr5:53560657

Conflicting classifications of pathogenicity

not specified
Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 1
NDUFS4-related disorder

Criteria Provided
Conflicting Classifications

CA323173

rs_73754255

3 SubmittersRCV000198638 RCV001151560 RCV001151559 RCV003917799

NM_002495.4(NDUFS4):c.10G>C (p.Val4Leu)

SNV
Germline

Chr5:53560672

Conflicting classifications of pathogenicity

not specified
Leigh syndrome
Condition: not provided
Mitochondrial complex I deficiency, nuclear type 1

Criteria Provided
Conflicting Classifications

CA325091

rs_185711494

3 SubmittersRCV000335188 RCV001154575 RCV000960853 RCV001154576

NM_002495.4(NDUFS4):c.13T>C (p.Ser5Pro)

SNV
Germline

Chr5:53560675

Conflicting classifications of pathogenicity

Condition: not provided
Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 1
Mitochondrial complex I deficiency
Leigh syndrome
Inborn genetic diseases
NDUFS4-related disorder

Criteria Provided
Conflicting Classifications

CA323413

rs_149323691

5 SubmittersRCV000198881 RCV000329830 RCV000295911 RCV000660466 RCV002517243 RCV003947635

NM_174889.5(NDUFAF2):c.131A>C (p.Gln44Pro)

SNV
Germline

Chr5:61073128

Conflicting classifications of pathogenicity

Condition: not provided
Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA322323

rs_775605330

4 SubmittersRCV000197862 RCV001157922 RCV001157923 RCV002515408

NM_152416.4(NDUFAF6):c.371T>C (p.Ile124Thr)

SNV
Germline

Chr8:95035527

Conflicting classifications of pathogenicity

Mitochondrial complex I deficiency, nuclear type 17
Leigh syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA325074

rs_201732170

7 SubmittersRCV000412555 RCV001004883 RCV002517199

NM_003172.4(SURF1):c.889A>C (p.Thr297Pro)

SNV
Germline

Chr9:133351927

Conflicting classifications of pathogenicity

not specified
Leigh syndrome

Criteria Provided
Conflicting Classifications

CA324187

rs_782620122

2 SubmittersRCV000199642 RCV002515441

NM_003172.4(SURF1):c.745A>G (p.Asn249Asp)

SNV
Germline

Chr9:133352452

Conflicting classifications of pathogenicity

Leigh syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA322228

rs_587669420

6 SubmittersRCV000699472 RCV001699229

NM_003172.4(SURF1):c.574C>T (p.Arg192Trp)

SNV
Germline

Chr9:133352708

Pathogenic/Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 4K
Leigh syndrome
Charcot-Marie-Tooth disease type 4K
Mitochondrial complex IV deficiency, nuclear type 1
Mitochondrial disease

Criteria Provided
Multiple Submitters
No Conflicts

CA215067

rs_782190413

7 SubmittersRCV000199387 RCV000202523 RCV000631410 RCV002492907 RCV003314575

NM_003172.4(SURF1):c.563A>G (p.Asn188Ser)

SNV
Germline

Chr9:133352719

Conflicting classifications of pathogenicity

Condition: not provided
Leigh syndrome
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA321229

rs_200702528

5 SubmittersRCV000196814 RCV001215689 RCV002222439 RCV002517263

NM_003172.4(SURF1):c.324-11T>G

SNV
Germline

Chr9:133353951

Conflicting classifications of pathogenicity

Condition: not provided
Mitochondrial complex IV deficiency, nuclear type 1
Leigh syndrome

Criteria Provided
Conflicting Classifications

CA323008

rs_375398247

8 SubmittersRCV000198496 RCV003152693 RCV003509513

NM_003172.4(SURF1):c.40G>A (p.Ala14Thr)

SNV
Germline

Chr9:133356414

Conflicting classifications of pathogenicity

not specified
Leigh syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA323176

rs_863224224

3 SubmittersRCV000198640 RCV001853202 RCV004020427

NM_078470.6(COX15):c.929C>G (p.Pro310Arg)

SNV
Germline

Chr10:99718404

Conflicting classifications of pathogenicity

Condition: not provided
Leigh syndrome
COX15-related disorder
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2

Criteria Provided
Conflicting Classifications

CA320228

rs_138293000

6 SubmittersRCV000195853 RCV000321049 RCV003927838 RCV004558441

NM_078470.6(COX15):c.164G>A (p.Arg55Lys)

SNV
Germline

Chr10:99729661

Conflicting classifications of pathogenicity

not specified
Leigh syndrome
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA321735

rs_777532861

4 SubmittersRCV000197287 RCV000291406 RCV002515389 RCV002517204

NM_017547.4(FOXRED1):c.1171T>G (p.Leu391Val)

SNV
Germline

Chr11:126277140

Conflicting classifications of pathogenicity

Condition: not provided
Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 1
Mitochondrial complex I deficiency, nuclear type 1
Mitochondrial complex I deficiency, nuclear type 19

Criteria Provided
Conflicting Classifications

CA324443

rs_138061928

7 SubmittersRCV000199891 RCV000763714 RCV001107765 RCV005396586

NM_004551.3(NDUFS3):c.123C>T (p.Ala41=)

SNV
Germline

Chr11:47579324

Conflicting classifications of pathogenicity

not specified
Mitochondrial complex I deficiency, nuclear type 1
Leigh syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA324576

rs_141187412

4 SubmittersRCV000200026 RCV001105706 RCV001105707 RCV002515417

NM_004551.3(NDUFS3):c.475G>C (p.Val159Leu)

SNV
Germline

Chr11:47582181

Conflicting classifications of pathogenicity

Mitochondrial complex I deficiency, nuclear type 1
Leigh syndrome
Condition: not provided
NDUFS3-related disorder
Mitochondrial complex I deficiency, nuclear type 8

Criteria Provided
Conflicting Classifications

CA320767

rs_148331180

7 SubmittersRCV000274500 RCV000331648 RCV000884571 RCV004530169 RCV005396588

NM_007103.4(NDUFV1):c.-45T>G

SNV
Germline

Chr11:67606960

Conflicting classifications of pathogenicity

not specified
Mitochondrial complex I deficiency, nuclear type 1
Leigh syndrome
NDUFV1-related disorder

Criteria Provided
Conflicting Classifications

CA320601

rs_373940385

3 SubmittersRCV000196176 RCV000274501 RCV000331800 RCV004541263

NM_007103.4(NDUFV1):c.150C>T (p.Asp50=)

SNV
Germline

Chr11:67608473

Conflicting classifications of pathogenicity

not specified
Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA324342

rs_11540012

4 SubmittersRCV000199787 RCV000285221 RCV000342561 RCV000676963

NM_007103.4(NDUFV1):c.349G>A (p.Ala117Thr)

SNV
Germline

Chr11:67609474

Pathogenic/Likely pathogenic

Condition: not provided
Mitochondrial complex I deficiency, nuclear type 4
Leigh syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA325310

rs_757486575

4 SubmittersRCV000200734 RCV003137782 RCV005055709

NM_007103.4(NDUFV1):c.365C>T (p.Pro122Leu)

SNV
Germline

Chr11:67609490

Pathogenic/Likely pathogenic

Condition: not provided
Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 4

Criteria Provided
Multiple Submitters
No Conflicts

CA321698

rs_750831299

5 SubmittersRCV000197256 RCV004586617 RCV004554745

NM_007103.4(NDUFV1):c.700+12C>T

SNV
Germline

Chr11:67610582

Conflicting classifications of pathogenicity

not specified
Mitochondrial complex I deficiency, nuclear type 1
Leigh syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA320641

rs_200417926

3 SubmittersRCV000196215 RCV001104932 RCV001104931 RCV002517246

NM_007103.4(NDUFV1):c.800G>A (p.Arg267Lys)

SNV
Germline

Chr11:67611094

Conflicting classifications of pathogenicity

Condition: not provided
Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 1
Inborn genetic diseases
Mitochondrial complex I deficiency, nuclear type 4
NDUFV1-related disorder

Criteria Provided
Conflicting Classifications

CA320044

rs_141400889

9 SubmittersRCV000195680 RCV000294572 RCV000390228 RCV002517247 RCV004725050 RCV004734853

NM_002496.4(NDUFS8):c.4C>T (p.Arg2Cys)

SNV
Germline

Chr11:68032155

Conflicting classifications of pathogenicity

Leigh syndrome
Condition: not provided
Mitochondrial complex I deficiency, nuclear type 1
Inborn genetic diseases
Mitochondrial complex I deficiency, nuclear type 2
NDUFS8-related disorder

Criteria Provided
Conflicting Classifications

CA324025

rs_150278938

11 SubmittersRCV000765008 RCV000726015 RCV001108403 RCV002517245 RCV003458354 RCV003907737

NM_024407.5(NDUFS7):c.*16C>T

SNV
Germline

Chr19:1395504

Conflicting classifications of pathogenicity

not specified
Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 1

Criteria Provided
Conflicting Classifications

CA324673

rs_573586959

2 SubmittersRCV000200114 RCV001127321 RCV001126907

NM_000284.4(PDHA1):c.1132C>T (p.Arg378Cys)

SNV
Germline

ChrX:19359612

Pathogenic

Condition: not provided
Pyruvate dehydrogenase E1-alpha deficiency
SUDDEN INFANT DEATH SYNDROME
Pyruvate dehydrogenase complex deficiency

Reviewed By Expert Panel

CA323094

rs_863224147

8 SubmittersRCV000198575 RCV000497402 RCV001788065 RCV001796726

NM_002354.3(EPCAM):c.304A>G (p.Ser102Gly)

SNV
Germline

Chr2:47373927

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 8
Condition: not provided

Criteria Provided
Conflicting Classifications

CA338473

rs_34474955

4 SubmittersRCV002444801 RCV003316106 RCV003539813

NM_000251.3(MSH2):c.199A>G (p.Met67Val)

SNV
Germline

Chr2:47403390

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA032335

rs_768824654

6 SubmittersRCV000195508 RCV000581797 RCV001770148 RCV003114359 RCV003997016

NM_000251.3(MSH2):c.470G>C (p.Gly157Ala)

SNV
Germline

Chr2:47410197

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
not specified
Condition: not provided
Breast and/or ovarian cancer
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA038898

rs_765489269

9 SubmittersRCV000197496 RCV000579889 RCV000662894 RCV000780448 RCV001569704 RCV001798671 RCV003997024

NM_000251.3(MSH2):c.1254A>G (p.Ile418Met)

SNV
Germline

Chr2:47429919

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Condition: not provided
not specified
Lynch syndrome
MSH2-related disorder
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA027308

rs_751431238

10 SubmittersRCV000200127 RCV000564423 RCV000765666 RCV001589078 RCV003155118 RCV003997012 RCV004528987 RCV003316110

NM_000251.3(MSH2):c.1331G>T (p.Arg444Leu)

SNV
Germline

Chr2:47445602

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA027957

rs_557339938

8 SubmittersRCV000196756 RCV000214843 RCV000409612 RCV000586261 RCV003997013

NM_000251.3(MSH2):c.1547G>A (p.Ser516Asn)

SNV
Germline

Chr2:47466694

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA338107

rs_373564353

5 SubmittersRCV000774569 RCV000986673 RCV001201365 RCV004806190

NM_000251.3(MSH2):c.1813G>T (p.Val605Phe)

SNV
Germline

Chr2:47475078

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1
Hereditary cancer-predisposing syndrome
not specified
Muir-Torré syndrome
Mismatch repair cancer syndrome 2
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA031537

rs_730881777

11 SubmittersRCV000199035 RCV000235488 RCV000412070 RCV000566201 RCV003323451 RCV005361147 RCV003997014

NM_000251.3(MSH2):c.2048G>T (p.Gly683Val)

SNV
Germline

Chr2:47476409

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
not specified
Condition: not provided
Hereditary cancer-predisposing syndrome
Muir-Torré syndrome
Mismatch repair cancer syndrome 2
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA339026

rs_755920849

17 SubmittersRCV000199994 RCV000410314 RCV000485278 RCV000767061 RCV000490871 RCV005031745 RCV003997017

NM_000251.3(MSH2):c.2072T>C (p.Ile691Thr)

SNV
Germline

Chr2:47476433

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome
Lynch syndrome 1
Muir-Torré syndrome
Mismatch repair cancer syndrome 2

Criteria Provided
Conflicting Classifications

CA033486

rs_754824872

7 SubmittersRCV000195748 RCV000579733 RCV002307442 RCV003997018 RCV005031746

NM_000251.3(MSH2):c.2197G>A (p.Ala733Thr)

SNV
Germline

Chr2:47476558

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Malignant tumor of breast
Lynch syndrome 1
Ovarian cancer
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA034588

rs_772662439

16 SubmittersRCV000236347 RCV000491392 RCV000656998 RCV000524380 RCV001358322 RCV000662875 RCV003153472 RCV004530190

NM_000251.3(MSH2):c.2211-6C>A

SNV
Germline

Chr2:47478266

Conflicting classifications of pathogenicity

not specified
Lynch syndrome 1
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA035050

rs_267608003

13 SubmittersRCV000236903 RCV000410446 RCV000590535 RCV001080259 RCV000771124 RCV003491944 RCV003997015

NM_000251.3(MSH2):c.2211-5T>G

SNV
Germline

Chr2:47478267

Conflicting classifications of pathogenicity

Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA035039

rs_368596736

10 SubmittersRCV000409905 RCV001086513 RCV000568854 RCV000588531 RCV001844084 RCV004541280

NM_000251.3(MSH2):c.2260A>G (p.Thr754Ala)

SNV
Germline

Chr2:47478321

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1
Lynch syndrome 1
Muir-Torré syndrome
Mismatch repair cancer syndrome 2
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA035098

rs_757268664

10 SubmittersRCV000196465 RCV000560982 RCV000589091 RCV001140258 RCV002500622 RCV003997019

NM_000251.3(MSH2):c.2293G>A (p.Ala765Thr)

SNV
Germline

Chr2:47478354

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA338683

rs_63750368

7 SubmittersRCV000199509 RCV000215183 RCV000411596 RCV004689671 RCV004806191

NM_000251.3(MSH2):c.2379G>T (p.Gln793His)

SNV
Germline

Chr2:47478440

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Mismatch repair cancer syndrome 1
Condition: not provided
not specified
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA035514

rs_767520406

9 SubmittersRCV000198539 RCV000569330 RCV002288815 RCV002273983 RCV003493487 RCV003462325 RCV003997020

NM_000251.3(MSH2):c.2387C>T (p.Thr796Ile)

SNV
Germline

Chr2:47478448

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA339316

rs_863224641

5 SubmittersRCV000200437 RCV000216489 RCV001577165 RCV003997021

NM_000251.3(MSH2):c.2726A>G (p.Lys909Arg)

SNV
Germline

Chr2:47482870

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Condition: not provided
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA037327

rs_34319539

6 SubmittersRCV000197107 RCV000491688 RCV001798670 RCV001550881 RCV004567432 RCV003997022

NM_000251.3(MSH2):c.2726A>T (p.Lys909Ile)

SNV
Germline

Chr2:47482870

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1
Lynch syndrome
not specified

Criteria Provided
Conflicting Classifications

CA037340

rs_34319539

9 SubmittersRCV000198941 RCV000223226 RCV000235290 RCV000412048 RCV003997023 RCV005237706

NM_000179.3(MSH6):c.41C>T (p.Ser14Phe)

SNV
Germline

Chr2:47783274

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast and/or ovarian cancer
Endometrial carcinoma
Lynch syndrome
Mismatch repair cancer syndrome 3
Lynch syndrome 5
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA336718

rs_863224628

11 SubmittersRCV000196789 RCV000662898 RCV000575547 RCV001564528 RCV003150088 RCV003462323 RCV003997002 RCV005396613

NM_000179.3(MSH6):c.94G>T (p.Gly32Cys)

SNV
Germline

Chr2:47783327

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
not specified
Lynch syndrome
MSH6-related disorder

Criteria Provided
Conflicting Classifications

CA073625

rs_776859837

11 SubmittersRCV000198127 RCV000480324 RCV000564851 RCV000663156 RCV003317146 RCV003997005 RCV004530189

NM_000179.3(MSH6):c.131C>T (p.Pro44Leu)

SNV
Germline

Chr2:47783364

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome
Endometrial carcinoma
Mismatch repair cancer syndrome 3
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA338295

rs_863224615

6 SubmittersRCV000198916 RCV000570887 RCV004760427 RCV003996992 RCV005396611

NM_000179.3(MSH6):c.136G>C (p.Gly46Arg)

SNV
Germline

Chr2:47783369

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Endometrial carcinoma
Mismatch repair cancer syndrome 1
Lynch syndrome 5
Lynch syndrome
Endometrial carcinoma
Mismatch repair cancer syndrome 3
Lynch syndrome 5
Endometrial carcinoma
Mismatch repair cancer syndrome 3

Criteria Provided
Conflicting Classifications

CA337552

rs_863224616

8 SubmittersRCV000197947 RCV000575386 RCV000765677 RCV003996993 RCV005025324 RCV004567424 RCV005361145

NM_000179.3(MSH6):c.208A>G (p.Lys70Glu)

SNV
Germline

Chr2:47783441

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome
Endometrial carcinoma
Endometrial carcinoma
Mismatch repair cancer syndrome 3
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA338570

rs_863224621

10 SubmittersRCV000199329 RCV000445836 RCV001589077 RCV003996997 RCV004567426 RCV005396612

NM_000179.3(MSH6):c.521G>A (p.Arg174Lys)

SNV
Germline

Chr2:47795957

Conflicting classifications of pathogenicity

Lynch syndrome 5
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided

Criteria Provided
Conflicting Classifications

CA339365

rs_863224629

6 SubmittersRCV000409062 RCV000491997 RCV001337371 RCV004998406

NM_000179.3(MSH6):c.643G>A (p.Val215Ile)

SNV
Germline

Chr2:47798626

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome 5
Lynch syndrome
Condition: not provided
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA073285

rs_145959653

14 SubmittersRCV000197162 RCV000220344 RCV000582427 RCV000663025 RCV000761118 RCV001699153 RCV003468905

NM_000179.3(MSH6):c.899G>A (p.Arg300Gln)

SNV
Germline

Chr2:47798882

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Breast and/or ovarian cancer
Endometrial carcinoma
Lynch syndrome
Endometrial carcinoma
Mismatch repair cancer syndrome 3
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA073560

rs_55760494

12 SubmittersRCV000199066 RCV000214218 RCV000586061 RCV002267932 RCV003491942 RCV003462324 RCV003997003 RCV005031743

NM_000179.3(MSH6):c.905G>A (p.Arg302Lys)

SNV
Germline

Chr2:47798888

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Mismatch repair cancer syndrome 1
Lynch syndrome 5
Lynch syndrome
not specified

Criteria Provided
Conflicting Classifications

CA073568

rs_587781510

7 SubmittersRCV000195580 RCV000219538 RCV000521245 RCV000845040 RCV003997004 RCV004782309

NM_000179.3(MSH6):c.1045C>T (p.Gln349Ter)

SNV
Germline

Chr2:47799028

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 5
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA336780

rs_863224473

6 SubmittersRCV000196898 RCV001781579 RCV003454497 RCV002399745

NM_000179.3(MSH6):c.1296T>G (p.Phe432Leu)

SNV
Germline

Chr2:47799279

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Hereditary cancer-predisposing syndrome
Endometrial carcinoma
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA337394

rs_863224614

5 SubmittersRCV000485339 RCV001312494 RCV003454502 RCV002381687 RCV005361144

NM_000179.3(MSH6):c.1450G>A (p.Glu484Lys)

SNV
Germline

Chr2:47799433

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Inherited ovarian cancer (without breast cancer)
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA338881

rs_587782706

4 SubmittersRCV001011654 RCV001340457 RCV004782308 RCV003996994

NM_000179.3(MSH6):c.1740G>T (p.Ser580=)

SNV
Germline

Chr2:47799723

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA068098

rs_762089407

6 SubmittersRCV000198145 RCV000579551 RCV005425800 RCV003996995

NM_000179.3(MSH6):c.1894A>G (p.Lys632Glu)

SNV
Germline

Chr2:47799877

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
not specified
Condition: not provided
Malignant tumor of breast
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA068250

rs_755847154

10 SubmittersRCV000213164 RCV000198361 RCV000411644 RCV000781573 RCV001580468 RCV001357273 RCV003996996

NM_000179.3(MSH6):c.2318T>C (p.Leu773Pro)

SNV
Germline

Chr2:47800301

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA337352

rs_863224623

3 SubmittersRCV001190573 RCV001313045 RCV003454503

NM_000179.3(MSH6):c.3101G>A (p.Arg1034Gln)

SNV
Germline

Chr2:47801084

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Breast and/or ovarian cancer
Condition: not provided
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA070049

rs_181727939

9 SubmittersRCV000199786 RCV000215044 RCV001194335 RCV003491941 RCV004725055 RCV003996999 RCV004567427

NM_000179.3(MSH6):c.3104G>A (p.Arg1035Gln)

SNV
Germline

Chr2:47801087

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 5
not specified
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA070064

rs_730881801

11 SubmittersRCV000196222 RCV000568269 RCV000759859 RCV002272172 RCV003320595 RCV003997000 RCV004567428

NM_000179.3(MSH6):c.3142C>G (p.Gln1048Glu)

SNV
Germline

Chr2:47801125

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA070092

rs_200492211

4 SubmittersRCV000573297 RCV001339225 RCV004806189 RCV004567429

NM_000179.3(MSH6):c.3348C>G (p.Gly1116=)

SNV
Germline

Chr2:47803595

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA335828

rs_771833309

5 SubmittersRCV000195667 RCV001187923 RCV003150087 RCV005420746

NM_000179.3(MSH6):c.3705T>C (p.Leu1235=)

SNV
Germline

Chr2:47806262

Conflicting classifications of pathogenicity

Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
MSH6-related disorder
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA339009

rs_545552712

10 SubmittersRCV000199972 RCV000524184 RCV000561429 RCV001824679 RCV001284019 RCV004739582 RCV003996955

NM_000179.3(MSH6):c.4064C>G (p.Thr1355Ser)

SNV
Germline

Chr2:47806841

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Endometrial carcinoma
Hereditary cancer
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA339279

rs_863224627

8 SubmittersRCV000200387 RCV000482736 RCV001021786 RCV004567430 RCV004701257 RCV003997001

NM_000249.4(MLH1):c.80G>A (p.Arg27Gln)

SNV
Germline

Chr3:36993627

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA038485

rs_138705565

11 SubmittersRCV000197307 RCV000662868 RCV000573727 RCV000587717 RCV003997011

NM_000249.4(MLH1):c.1564C>T (p.Arg522Trp)

SNV
Germline

Chr3:37040191

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA029672

rs_63751703

11 SubmittersRCV000195882 RCV000216499 RCV000412186 RCV000587282 RCV003997006

NM_000249.4(MLH1):c.1850A>C (p.Lys617Thr)

SNV
Germline

Chr3:37047637

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Conflicting Classifications

CA031040

rs_780199021

9 SubmittersRCV000196169 RCV000234867 RCV000586570 RCV003997009 RCV003468906

NM_001378615.1(CC2D2A):c.3046G>A (p.Glu1016Lys)

SNV
Germline

Chr4:15563386

Conflicting classifications of pathogenicity

Joubert syndrome 9
Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 6
COACH syndrome 2
Meckel syndrome, type 6
Joubert syndrome 9
CC2D2A-related disorder

Criteria Provided
Conflicting Classifications

CA338306

rs_373960465

8 SubmittersRCV000350715 RCV000344416 RCV001087622 RCV000405623 RCV002227457 RCV004530191

NM_000535.7(PMS2):c.2085C>T (p.Ile695=)

SNV
Germline

Chr7:5982913

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Lynch syndrome
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA046541

rs_757157176

7 SubmittersRCV000195796 RCV000576048 RCV000780622 RCV001689732 RCV005361133 RCV005420737

NM_000535.7(PMS2):c.2007-6C>G

SNV
Germline

Chr7:5982997

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome 4
Breast and/or ovarian cancer
Mismatch repair cancer syndrome 4
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA338369

rs_376018314

9 SubmittersRCV000199056 RCV000587224 RCV000662636 RCV003150086 RCV005361132 RCV003477659 RCV003584561

NM_000535.7(PMS2):c.1733G>A (p.Arg578His)

SNV
Germline

Chr7:5987032

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Lynch syndrome 4
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA045451

rs_63750770

11 SubmittersRCV000199546 RCV000218135 RCV001544673 RCV003320596 RCV003462329 RCV003491945

NM_000535.7(PMS2):c.1642G>A (p.Asp548Asn)

SNV
Germline

Chr7:5987123

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA044914

rs_374591423

6 SubmittersRCV000195742 RCV000775362 RCV001546990 RCV004806192

NM_000535.7(PMS2):c.1632C>T (p.Asp544=)

SNV
Germline

Chr7:5987133

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA339583

rs_786203439

3 SubmittersRCV001439425 RCV003165462 RCV005420736

NM_000535.7(PMS2):c.1555T>C (p.Tyr519His)

SNV
Germline

Chr7:5987210

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Lynch syndrome 4
Mismatch repair cancer syndrome 4
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA044339

rs_370236216

8 SubmittersRCV000199090 RCV000221963 RCV000486619 RCV000780620 RCV000987826 RCV005042426

NM_000535.7(PMS2):c.1435C>G (p.His479Asp)

SNV
Germline

Chr7:5987330

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Lynch syndrome 4
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA043547

rs_376344586

8 SubmittersRCV000197213 RCV000216807 RCV000487350 RCV001192581 RCV001160657 RCV003997027

NM_000535.7(PMS2):c.1297A>T (p.Lys433Ter)

SNV
Germline

Chr7:5987468

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA337884

rs_863224496

8 SubmittersRCV000708622 RCV001268094 RCV001389426 RCV003454500 RCV004806187

NM_000535.7(PMS2):c.935T>C (p.Met312Thr)

SNV
Germline

Chr7:5992026

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Carcinoma of colon
not specified
Lynch syndrome
Mismatch repair cancer syndrome 4

Criteria Provided
Conflicting Classifications

CA052531

rs_530021751

8 SubmittersRCV000563510 RCV000588576 RCV001081365 RCV001357920 RCV003479057 RCV003996962 RCV005365124

NM_000535.7(PMS2):c.537+1G>A

SNV
Germline

Chr7:6002452

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Mismatch repair cancer syndrome 4
Lynch syndrome 4
Hereditary cancer-predisposing syndrome
Lynch syndrome 4
PMS2-related disorder
Condition: not provided
Hereditary nonpolyposis colon cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA339064

rs_863224450

7 SubmittersRCV001377722 RCV002485315 RCV002345713 RCV003454495 RCV004725052 RCV004786533 RCV005418014

NM_153704.6(TMEM67):c.725A>G (p.Asn242Ser)

SNV
Germline

Chr8:93780603

Pathogenic/Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome 6
Inborn genetic diseases
Condition: not provided
Abnormality of the nervous system
Nephronophthisis 11
COACH syndrome 1
6 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA277789

rs_775883520

12 SubmittersRCV000198666 RCV000201726 RCV000624166 RCV001090385 RCV001814102 RCV004798803 RCV002283466 RCV005042429

NM_003172.4(SURF1):c.106+1G>C

SNV
Germline

Chr9:133356268

Likely pathogenic

Leigh syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA278935

rs_863224926

2 SubmittersRCV000196131

NM_002496.4(NDUFS8):c.343A>G (p.Lys115Glu)

SNV
Germline

Chr11:68033254

Conflicting classifications of pathogenicity

Leigh syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA277529

rs_764276946

3 SubmittersRCV000200148 RCV001853220

NM_006218.4(PIK3CA):c.311C>T (p.Pro104Leu)

SNV
Germline/somatic

Chr3:179199136

Pathogenic/Likely pathogenic

PIK3CA related overgrowth syndrome
Cowden syndrome
PIK3CA-related disorder
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA279138

rs_863225060

4 SubmittersRCV000201238 RCV001221647 RCV004737318 RCV002254285

NM_006218.4(PIK3CA):c.3129G>T (p.Met1043Ile)

SNV
Germline/somatic

Chr3:179234286

Pathogenic

PIK3CA related overgrowth syndrome
Cowden syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA210107

rs_121913283

4 SubmittersRCV000201236 RCV000631214 RCV003320599

NM_006218.4(PIK3CA):c.1635G>T (p.Glu545Asp)

SNV
Germline/somatic

Chr3:179218305

Pathogenic/Likely pathogenic

PIK3CA related overgrowth syndrome
Megalencephaly-capillary malformation-polymicrogyria syndrome
Cowden syndrome
Capillary malformation

Criteria Provided
Multiple Submitters
No Conflicts

CA210104

rs_121913275

5 SubmittersRCV000201234 RCV001775099 RCV002517302 RCV003485561

NM_001378615.1(CC2D2A):c.1558C>T (p.Arg520Ter)

SNV
Germline

Chr4:15533284

Pathogenic/Likely pathogenic

Joubert syndrome 9
Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 6
COACH syndrome 1
Joubert syndrome 9
Meckel syndrome, type 6
Joubert syndrome 9
COACH syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA210275

rs_781252161

4 SubmittersRCV000201589 RCV000458965 RCV000763522 RCV001814111

NM_001378615.1(CC2D2A):c.2999A>T (p.Glu1000Val)

SNV
Germline

Chr4:15560607

Pathogenic/Likely pathogenic

Joubert syndrome 9
Meckel syndrome, type 6
Joubert syndrome 9
Retinitis pigmentosa 93
COACH syndrome 2
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA210338

rs_773881370

5 SubmittersRCV000201775 RCV004796099 RCV001853233

NM_001378615.1(CC2D2A):c.3055C>T (p.Arg1019Ter)

SNV
Germline

Chr4:15563395

Pathogenic/Likely pathogenic

Joubert syndrome 9
Condition: not provided
Meckel syndrome, type 6
COACH syndrome 1
Joubert syndrome 9
Joubert syndrome
Meckel-Gruber syndrome
CC2D2A-related disorder
Meckel syndrome, type 6
Joubert syndrome 9
Retinitis pigmentosa 93
COACH syndrome 2
Meckel syndrome, type 6

Criteria Provided
Multiple Submitters
No Conflicts

CA210269

rs_370880399

10 SubmittersRCV000201572 RCV000489696 RCV000763524 RCV000702498 RCV000778722 RCV005031762 RCV005052801

NM_001378615.1(CC2D2A):c.3850C>T (p.Arg1284Cys)

SNV
Germline

Chr4:15580046

Pathogenic/Likely pathogenic

Joubert syndrome 9
Meckel syndrome, type 6
Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 6
Joubert syndrome 9
Retinitis pigmentosa 93
COACH syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA210258

rs_779823379

5 SubmittersRCV000201552 RCV001261604 RCV001853232 RCV005031761

NM_001378615.1(CC2D2A):c.3976-3C>A

SNV
Germline

Chr4:15586154

Conflicting classifications of pathogenicity

Joubert syndrome 9
Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 6
Joubert syndrome 9
Retinitis pigmentosa 93
COACH syndrome 2
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA210298

rs_576298659

4 SubmittersRCV000201676 RCV002519579 RCV005031765 RCV004816346

NM_001378615.1(CC2D2A):c.3989G>A (p.Arg1330Gln)

SNV
Germline

Chr4:15586170

Conflicting classifications of pathogenicity

Joubert syndrome 9
Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 6
Joubert syndrome 9
Retinitis pigmentosa 93
COACH syndrome 2
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA210320

rs_763486732

5 SubmittersRCV000201714 RCV001067961 RCV005031764 RCV003144159 RCV003323453

NM_001378615.1(CC2D2A):c.4667A>T (p.Asp1556Val)

SNV
Germline

Chr4:15599699

Pathogenic/Likely pathogenic

Joubert syndrome 9
Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome
Inborn genetic diseases
COACH syndrome 1
CC2D2A-related disorder
Neurodevelopmental disorder
Ciliopathy
Retinal dystrophy
COACH syndrome 2
Retinitis pigmentosa 93
Meckel syndrome, type 6
Joubert syndrome 9
Joubert syndrome and related disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA210318

rs_201502401

20 SubmittersRCV000201706 RCV000286210 RCV000474430 RCV000347415 RCV001266486 RCV001542750 RCV000778102 RCV002277554 RCV005365132 RCV004816345 RCV005031763 RCV003317149

NM_153704.6(TMEM67):c.1321C>T (p.Arg441Cys)

SNV
Germline

Chr8:93786255

Conflicting classifications of pathogenicity

Joubert syndrome 6
Inborn genetic diseases
Bardet-Biedl syndrome 14
Joubert syndrome 6
COACH syndrome 1
Meckel syndrome, type 3
Nephronophthisis 11
Joubert syndrome
Renal cyst
Oligohydramnios
14 conditions
Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 3
6 conditions

Criteria Provided
Conflicting Classifications

CA277817

rs_752362727

6 SubmittersRCV000201784 RCV000623940 RCV000763609 RCV000414925 RCV000627003 RCV001853244 RCV003997037 RCV005042432

NM_015272.5(RPGRIP1L):c.3529C>T (p.Arg1177Ter)

SNV
Germline

Chr16:53619112

Pathogenic

Joubert syndrome 7
Joubert syndrome
Meckel-Gruber syndrome
Condition: not provided
Inborn genetic diseases
Joubert syndrome 7
COACH syndrome 3
Meckel syndrome, type 5
RPGRIP1L-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA277753

rs_778533826

6 SubmittersRCV000201661 RCV001853237 RCV002509297 RCV002517313 RCV002492927 RCV004732786

NM_000251.3(MSH2):c.793-1G>A

SNV
Germline

Chr2:47414268

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Lynch syndrome 1
Muir-Torré syndrome
Mismatch repair cancer syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA279694

rs_863225397

7 SubmittersRCV000202050 RCV000491505 RCV000703166 RCV001257468 RCV005365134

NM_000251.3(MSH2):c.1177A>T (p.Lys393Ter)

SNV
Germline

Chr2:47429842

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA279759

rs_863225386

4 SubmittersRCV000202154 RCV002327056 RCV003758724 RCV003454513

NM_000251.3(MSH2):c.1237C>T (p.Gln413Ter)

SNV
Germline

Chr2:47429902

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA279693

rs_863225387

6 SubmittersRCV000202046 RCV000490844 RCV003454514 RCV003593936

NM_000251.3(MSH2):c.1276+2T>C

SNV
Germline/somatic

Chr2:47429943

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA027509

rs_267607953

11 SubmittersRCV000202216 RCV000460835 RCV000492023 RCV000576479 RCV005361164

NM_000251.3(MSH2):c.1481C>G (p.Ser494Ter)

SNV
Germline

Chr2:47463125

Pathogenic

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA248506

rs_370970617

3 SubmittersRCV000202035 RCV000694104 RCV003454517

NM_000251.3(MSH2):c.1862G>T (p.Arg621Leu)

SNV
Germline

Chr2:47475127

Pathogenic/Likely pathogenic

not specified
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colon cancer
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA210371

rs_759263820

7 SubmittersRCV000201977 RCV000205853 RCV000491320 RCV000656880 RCV003226247 RCV003462356

NM_000251.3(MSH2):c.2300C>G (p.Ser767Ter)

SNV
Germline

Chr2:47478361

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA279719

rs_863225395

4 SubmittersRCV000202080 RCV000491337 RCV000800051 RCV003454522

NM_000251.3(MSH2):c.2494G>T (p.Glu832Ter)

SNV
Germline

Chr2:47480731

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA279661

rs_863225396

3 SubmittersRCV000201967 RCV002426955 RCV003454523

NM_000179.3(MSH6):c.261-1G>C

SNV
Germline

Chr2:47790926

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colon cancer
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA279746

rs_863225402

7 SubmittersRCV000202130 RCV000203910 RCV000222011 RCV003114364 RCV003454527

NM_000179.3(MSH6):c.1883G>A (p.Trp628Ter)

SNV
Germline

Chr2:47799866

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Carcinoma of colon
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA279790

rs_863225401

6 SubmittersRCV000202222 RCV000664275 RCV001354409 RCV003454526

NM_000179.3(MSH6):c.3172G>C (p.Asp1058His)

SNV
Germline

Chr2:47801155

Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome
Carcinoma of colon
Lynch syndrome 5

Reviewed By Expert Panel

CA279731

rs_863225404

6 SubmittersRCV000491378 RCV001039124 RCV000202089 RCV000501351 RCV001353871 RCV005600811

NM_000249.4(MLH1):c.116+5G>A

SNV
Germline

Chr3:36993668

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA027435

rs_267607710

12 SubmittersRCV000202146 RCV000561710 RCV000663218 RCV000630192 RCV000766594 RCV003997045

NM_000249.4(MLH1):c.583A>T (p.Lys195Ter)

SNV
Germline

Chr3:37011857

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA279752

rs_863225383

7 SubmittersRCV000202144 RCV000216838 RCV003454512 RCV002517340 RCV004017484

NM_000179.3(MSH6):c.3100C>T (p.Arg1034Trp)

SNV
Germline

Chr2:47801083

Conflicting classifications of pathogenicity

Lynch syndrome
Condition: not provided
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA070044

rs_587779930

11 SubmittersRCV000203004 RCV000219542 RCV000410374 RCV000524152 RCV000774606

NM_000179.3(MSH6):c.3632T>C (p.Leu1211Pro)

SNV
Germline

Chr2:47805693

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Endometrial carcinoma
Condition: not provided

Reviewed By Expert Panel

CA350757

rs_864622041

9 SubmittersRCV000471873 RCV000206750 RCV000215362 RCV003454537 RCV003462359 RCV003477675

NM_000249.4(MLH1):c.1676T>C (p.Leu559Pro)

SNV
Germline

Chr3:37042276

Likely pathogenic

Lynch syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA348372

rs_63750059

5 SubmittersRCV000204126 RCV000522242 RCV001853279 RCV002399757 RCV003454536

NM_000249.4(MLH1):c.2263A>G (p.Arg755Gly)

SNV
Germline

Chr3:37050645

Pathogenic

Lynch syndrome 1

Reviewed By Expert Panel

CA350722

rs_267607900

1 SubmittersRCV000206724

NM_000251.3(MSH2):c.507A>G (p.Ile169Met)

SNV
Germline

Chr2:47410234

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA039056

rs_748762580

10 SubmittersRCV000203760 RCV000771214 RCV000662969 RCV001569238 RCV003997617

NM_000251.3(MSH2):c.508C>G (p.Gln170Glu)

SNV
Germline

Chr2:47410235

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Condition: not provided
Lynch syndrome 1
Muir-Torré syndrome
Mismatch repair cancer syndrome 2
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA039073

rs_63750843

11 SubmittersRCV000214137 RCV000204442 RCV003320603 RCV000759837 RCV002485345 RCV003315420 RCV003997618

NM_000251.3(MSH2):c.576C>T (p.Ile192=)

SNV
Germline

Chr2:47410303

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome
Condition: not provided
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA348791

rs_864622381

9 SubmittersRCV000204572 RCV000568612 RCV000615464 RCV003997612 RCV004998429 RCV005246793

NM_000251.3(MSH2):c.589A>G (p.Lys197Glu)

SNV
Germline

Chr2:47410316

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA348678

rs_778573140

6 SubmittersRCV000204459 RCV000480096 RCV000772140 RCV003997653

NM_000251.3(MSH2):c.641G>T (p.Arg214Ile)

SNV
Germline

Chr2:47410368

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1
Muir-Torré syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA039588

rs_763298811

8 SubmittersRCV000204214 RCV000565649 RCV001556775 RCV003315421 RCV005361190 RCV003997641

NM_000251.3(MSH2):c.646-3T>C

SNV
Germline

Chr2:47412411

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Condition: not provided
Breast and/or ovarian cancer
not specified
MSH2-related disorder
Lynch syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA039878

rs_267607930

13 SubmittersRCV000203689 RCV000565426 RCV000662873 RCV001722122 RCV001798681 RCV003235128 RCV004530227 RCV003997616 RCV005361183

NM_000251.3(MSH2):c.748G>T (p.Gly250Ter)

SNV
Germline

Chr2:47412516

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colon cancer
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA348603

rs_864622183

5 SubmittersRCV000204356 RCV000490946 RCV001527063 RCV003454540

NM_000251.3(MSH2):c.812C>G (p.Ser271Cys)

SNV
Germline

Chr2:47414288

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome 1
Muir-Torré syndrome
Mismatch repair cancer syndrome 2
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA349912

rs_139891783

9 SubmittersRCV000205795 RCV000657148 RCV001180058 RCV000481152 RCV005396638 RCV003997604

NM_000251.3(MSH2):c.842C>G (p.Ser281Ter)

SNV
Germline

Chr2:47414318

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colon cancer
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA349474

rs_63749991

4 SubmittersRCV000205315 RCV000491522 RCV003155123 RCV003454542

NM_000251.3(MSH2):c.934C>G (p.Leu312Val)

SNV
Germline

Chr2:47414410

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA041178

rs_756398636

6 SubmittersRCV000205023 RCV000565881 RCV000662459 RCV003997573

NM_000251.3(MSH2):c.1013G>C (p.Gly338Ala)

SNV
Germline

Chr2:47416366

Conflicting classifications of pathogenicity

Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA349698

rs_587779065

4 SubmittersRCV000663023 RCV001320681

NM_000251.3(MSH2):c.1124C>T (p.Thr375Ile)

SNV
Germline

Chr2:47429789

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Condition: not provided
Lynch syndrome
not specified

Criteria Provided
Conflicting Classifications

CA027026

rs_774539871

9 SubmittersRCV000206649 RCV000216074 RCV003462383 RCV001582711 RCV003997643 RCV005230082

NM_000251.3(MSH2):c.1276+7A>G

SNV
Germline

Chr2:47429948

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
not specified
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA027597

rs_748554540

8 SubmittersRCV000204444 RCV000600314 RCV000776439 RCV003454539

NM_000251.3(MSH2):c.1511-41G>C

SNV
Germline

Chr2:47466617

Conflicting classifications of pathogenicity

Condition: not provided
MSH2-related disorder
not specified
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA029317

rs_202215396

10 SubmittersRCV001812214 RCV004529007 RCV000455376 RCV000663053 RCV001520677 RCV002257512

NM_000251.3(MSH2):c.1563T>A (p.Tyr521Ter)

SNV
Germline

Chr2:47466710

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA349667

rs_63750330

4 SubmittersRCV000205506 RCV000574279 RCV003454548

NM_000251.3(MSH2):c.1622C>T (p.Thr541Ile)

SNV
Germline

Chr2:47466769

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Lynch syndrome
Breast and/or ovarian cancer
Lynch syndrome 1
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA348608

rs_864622079

9 SubmittersRCV000204365 RCV000570070 RCV000478447 RCV001193995 RCV003997558 RCV003150090 RCV003462360 RCV004530216

NM_000251.3(MSH2):c.1802A>G (p.Gln601Arg)

SNV
Germline

Chr2:47475067

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Lynch syndrome 1
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA031443

rs_779447213

7 SubmittersRCV000205243 RCV000567614 RCV003477681 RCV002469065 RCV000765669 RCV004806198

NM_000251.3(MSH2):c.1804C>G (p.Leu602Val)

SNV
Germline

Chr2:47475069

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Malignant tumor of breast
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA031475

rs_748797209

10 SubmittersRCV000205416 RCV000235312 RCV000221565 RCV000663070 RCV001356036 RCV003997576

NM_000251.3(MSH2):c.1898T>C (p.Ile633Thr)

SNV
Germline

Chr2:47475163

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome
Lynch syndrome 1
not specified
Lynch syndrome 1
Muir-Torré syndrome
Mismatch repair cancer syndrome 2

Criteria Provided
Conflicting Classifications

CA350189

rs_864622093

9 SubmittersRCV000206123 RCV000562458 RCV000519579 RCV003997560 RCV004567449 RCV001201177 RCV005396632

NM_000251.3(MSH2):c.2150G>A (p.Ser717Asn)

SNV
Germline

Chr2:47476511

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA034373

rs_752883472

6 SubmittersRCV000206475 RCV001181937 RCV003230453 RCV003468962 RCV005429232

NM_000251.3(MSH2):c.2309T>C (p.Ile770Thr)

SNV
Germline

Chr2:47478370

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA035315

rs_371718349

7 SubmittersRCV000206397 RCV000219799 RCV000759827 RCV004567467 RCV004806203

NM_000251.3(MSH2):c.2417C>T (p.Thr806Ile)

SNV
Germline

Chr2:47478478

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA035718

rs_758889557

8 SubmittersRCV000205485 RCV000568311 RCV000708843 RCV000480146

NM_000251.3(MSH2):c.2525A>T (p.Glu842Val)

SNV
Germline

Chr2:47480762

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome
Mismatch repair cancer syndrome 2
Lynch syndrome 1
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA349143

rs_373393954

10 SubmittersRCV000204953 RCV000662576 RCV000565136 RCV001558974 RCV003997640 RCV005396648

NM_000251.3(MSH2):c.2542G>T (p.Ala848Ser)

SNV
Germline

Chr2:47480779

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
MSH2-related disorder
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA036472

rs_746972142

8 SubmittersRCV000204877 RCV000491044 RCV001570632 RCV004734856 RCV003997603

NM_000179.3(MSH6):c.136G>A (p.Gly46Arg)

SNV
Germline

Chr2:47783369

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Mismatch repair cancer syndrome 1
Endometrial carcinoma
Lynch syndrome 5
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA348361

rs_863224616

9 SubmittersRCV000204112 RCV000484712 RCV000561391 RCV000765676 RCV000663157 RCV003997571

NM_000179.3(MSH6):c.187T>C (p.Ser63Pro)

SNV
Germline

Chr2:47783420

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
not specified
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Mismatch repair cancer syndrome 1
Lynch syndrome 5
Endometrial carcinoma
Endometrial carcinoma
MSH6-related disorder

Criteria Provided
Conflicting Classifications

CA068241

rs_763702846

12 SubmittersRCV000206061 RCV000217423 RCV000656886 RCV000491346 RCV000663184 RCV000765679 RCV003462390 RCV004530239

NM_000179.3(MSH6):c.240A>G (p.Val80=)

SNV
Germline

Chr2:47783473

Conflicting classifications of pathogenicity

Lynch syndrome 5
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA348418

rs_864622281

12 SubmittersRCV000410492 RCV000565482 RCV000855621 RCV000588097 RCV001080007 RCV001354250

NM_000179.3(MSH6):c.267C>G (p.Asp89Glu)

SNV
Germline

Chr2:47790933

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 5
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA069427

rs_762818044

9 SubmittersRCV000204000 RCV000491184 RCV000587576 RCV000662780 RCV003997628

NM_000179.3(MSH6):c.334A>G (p.Asn112Asp)

SNV
Germline

Chr2:47791000

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Hepatoblastoma
Hereditary cancer
not specified
Lynch syndrome 5
Endometrial carcinoma
Mismatch repair cancer syndrome 3

Criteria Provided
Conflicting Classifications

CA348775

rs_864622397

8 SubmittersRCV000204549 RCV000491364 RCV001753613 RCV001843493 RCV003491957 RCV003493500 RCV005025332

NM_000179.3(MSH6):c.361C>T (p.Arg121Cys)

SNV
Germline

Chr2:47791027

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA071503

rs_763593669

12 SubmittersRCV000567183 RCV000483247 RCV000662497 RCV000205461 RCV001193121 RCV004806200 RCV004567457

NM_000179.3(MSH6):c.647C>T (p.Thr216Ile)

SNV
Germline

Chr2:47798630

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Lynch syndrome 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA073299

rs_765195534

7 SubmittersRCV000204219 RCV000216919 RCV003997621 RCV005600816 RCV000588780

NM_000179.3(MSH6):c.659A>G (p.Glu220Gly)

SNV
Germline

Chr2:47798642

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA073311

rs_764478569

4 SubmittersRCV000206769 RCV000216982 RCV003997670

NM_000179.3(MSH6):c.733A>T (p.Ile245Leu)

SNV
Germline

Chr2:47798716

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA073402

rs_762168786

10 SubmittersRCV000204923 RCV000485879 RCV001026289 RCV000657010 RCV001142203

NM_000179.3(MSH6):c.1141G>A (p.Glu381Lys)

SNV
Germline

Chr2:47799124

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA067195

rs_142111387

4 SubmittersRCV000206259 RCV002460058 RCV003462380 RCV004806205

NM_000179.3(MSH6):c.1162C>G (p.His388Asp)

SNV
Germline

Chr2:47799145

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA067228

rs_770386388

10 SubmittersRCV000204403 RCV000519465 RCV000574858 RCV002243887 RCV003462366 RCV003997568

NM_000179.3(MSH6):c.1387G>T (p.Glu463Ter)

SNV
Germline

Chr2:47799370

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA350847

rs_864622435

3 SubmittersRCV000206852 RCV000491980 RCV003454546

NM_000179.3(MSH6):c.1529G>A (p.Arg510Lys)

SNV
Germline

Chr2:47799512

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA348991

rs_864622572

3 SubmittersRCV000204800 RCV000584293 RCV005600817

NM_000179.3(MSH6):c.1691C>A (p.Ser564Ter)

SNV
Germline

Chr2:47799674

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Condition: not provided
Breast and/or ovarian cancer
MSH6-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA349097

rs_864622153

10 SubmittersRCV000204908 RCV000491176 RCV000576302 RCV000481005 RCV001270947 RCV004530217

NM_000179.3(MSH6):c.1708A>G (p.Ile570Val)

SNV
Germline

Chr2:47799691

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome 5
Endometrial carcinoma
Mismatch repair cancer syndrome 3
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA068049

rs_61748081

6 SubmittersRCV001012760 RCV001360388 RCV005237721 RCV005025333 RCV003997648

NM_000179.3(MSH6):c.2156C>T (p.Thr719Ile)

SNV
Germline

Chr2:47800139

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 5
Lynch syndrome
Endometrial carcinoma
not specified

Criteria Provided
Conflicting Classifications

CA068506

rs_373418713

10 SubmittersRCV000205525 RCV000214718 RCV000985830 RCV002254688 RCV003997625 RCV004567469 RCV003993891

NM_000179.3(MSH6):c.2241G>A (p.Leu747=)

SNV
Germline

Chr2:47800224

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Lynch syndrome
MSH6-related disorder

Criteria Provided
Conflicting Classifications

CA348015

rs_377722465

11 SubmittersRCV000203714 RCV000410196 RCV000566554 RCV001797677 RCV001355981 RCV003997626 RCV004541290

NM_000179.3(MSH6):c.2320C>G (p.Leu774Val)

SNV
Germline

Chr2:47800303

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
not specified
Condition: not provided
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA348302

rs_864622324

11 SubmittersRCV000204030 RCV000570810 RCV000662629 RCV001553643 RCV001589090 RCV003997597 RCV004567463

NM_000179.3(MSH6):c.3312T>A (p.Phe1104Leu)

SNV
Germline

Chr2:47803559

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Mismatch repair cancer syndrome 1
Lynch syndrome 5
Endometrial carcinoma
not specified

Criteria Provided
Conflicting Classifications

CA070636

rs_747441460

7 SubmittersRCV000205915 RCV000486074 RCV000216977 RCV000764432 RCV003155125

NM_000179.3(MSH6):c.3334G>A (p.Asp1112Asn)

SNV
Germline

Chr2:47803581

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
not specified
Endometrial carcinoma
Lynch syndrome 5
Hereditary cancer-predisposing syndrome
Condition: not provided
MSH6-related disorder

Criteria Provided
Conflicting Classifications

CA070677

rs_773955368

16 SubmittersRCV000206715 RCV000508319 RCV003468963 RCV000663075 RCV000571369 RCV000985259 RCV004528997

NM_000179.3(MSH6):c.3354G>A (p.Glu1118=)

SNV
Germline

Chr2:47803601

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA070715

rs_35642130

13 SubmittersRCV000206593 RCV000429486 RCV000491525 RCV001137559 RCV001086511 RCV003997659

NM_000179.3(MSH6):c.3431T>G (p.Met1144Arg)

SNV
Germline

Chr2:47803678

Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA350840

rs_864622607

5 SubmittersRCV000220316 RCV000206842 RCV001034622 RCV000482863

NM_000179.3(MSH6):c.3526A>T (p.Arg1176Ter)

SNV
Germline

Chr2:47804997

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA348519

rs_786203968

3 SubmittersRCV000204275 RCV000564868 RCV003454545

NM_000179.3(MSH6):c.3598A>G (p.Ile1200Val)

SNV
Germline

Chr2:47805659

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Hereditary cancer-predisposing syndrome
Endometrial carcinoma
Condition: not provided

Criteria Provided
Conflicting Classifications

CA071451

rs_781627838

8 SubmittersRCV000204738 RCV000791410 RCV002243889 RCV000566750 RCV003462389 RCV002277568

NM_000179.3(MSH6):c.3634G>A (p.Val1212Met)

SNV
Germline

Chr2:47805695

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA348626

rs_864622748

6 SubmittersRCV000204393 RCV000662541 RCV000781594 RCV001020770

NM_000179.3(MSH6):c.3802-8T>G

SNV
Germline

Chr2:47806444

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome 5
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA350752

rs_864622195

5 SubmittersRCV000206747 RCV000438354 RCV000662918 RCV005401379

NM_000179.3(MSH6):c.3836G>A (p.Ser1279Asn)

SNV
Germline

Chr2:47806486

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
not specified
Lynch syndrome
Mismatch repair cancer syndrome 3
Lynch syndrome 5
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA349759

rs_864622400

10 SubmittersRCV000205628 RCV000481950 RCV000562735 RCV000662811 RCV002247633 RCV003997619 RCV005396640

NM_000179.3(MSH6):c.3843G>T (p.Glu1281Asp)

SNV
Germline

Chr2:47806493

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Endometrial carcinoma
Lynch syndrome 5
Endometrial carcinoma
Mismatch repair cancer syndrome 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA349179

rs_864622384

7 SubmittersRCV000205009 RCV000773068 RCV000780468 RCV003462376 RCV005031776 RCV003314577

NM_000179.3(MSH6):c.3980A>G (p.Asn1327Ser)

SNV
Germline

Chr2:47806630

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Lynch syndrome
Lynch syndrome 5
Endometrial carcinoma
Mismatch repair cancer syndrome 3

Criteria Provided
Conflicting Classifications

CA072431

rs_780187989

12 SubmittersRCV000205455 RCV000217289 RCV000519500 RCV001711360 RCV003997660 RCV005025335

NM_000179.3(MSH6):c.4002-8A>C

SNV
Germline

Chr2:47806771

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Carcinoma of colon
Condition: not provided
not specified
Lynch syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA072767

rs_778957100

9 SubmittersRCV000205656 RCV000579624 RCV001354582 RCV001711614 RCV002267938 RCV003997591 RCV005420756

NM_000249.4(MLH1):c.44T>C (p.Val15Ala)

SNV
Germline

Chr3:36993591

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Conflicting Classifications

CA349380

rs_864622396

6 SubmittersRCV000205194 RCV001022596 RCV003997614 RCV004567466

NM_000249.4(MLH1):c.552A>T (p.Ser184=)

SNV
Germline

Chr3:37011826

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Colorectal cancer, hereditary nonpolyposis, type 2
Condition: not provided
MLH1-related disorder
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA349361

rs_35225190

10 SubmittersRCV000205167 RCV000571731 RCV000445067 RCV005246790 RCV001284648 RCV003897445 RCV003997605

NM_000249.4(MLH1):c.1122T>G (p.Ser374Arg)

SNV
Germline

Chr3:37025720

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
not specified
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA027194

rs_759868546

8 SubmittersRCV000206536 RCV000411042 RCV001174565 RCV001009894 RCV003997595

NM_000249.4(MLH1):c.1216A>G (p.Ser406Gly)

SNV
Germline

Chr3:37025814

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Breast and/or ovarian cancer
Lynch syndrome
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Conflicting Classifications

CA348373

rs_864622687

8 SubmittersRCV000204128 RCV000483134 RCV001798691 RCV003997658 RCV000572725 RCV000987169

NM_000249.4(MLH1):c.1270G>A (p.Ala424Thr)

SNV
Germline

Chr3:37025868

Conflicting classifications of pathogenicity

not specified
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Condition: not provided
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA028060

rs_377433038

12 SubmittersRCV000485106 RCV000206553 RCV000562644 RCV000987172 RCV000657001 RCV005396641 RCV003997623

NM_000249.4(MLH1):c.1351A>G (p.Thr451Ala)

SNV
Germline

Chr3:37025949

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided

Criteria Provided
Conflicting Classifications

CA348858

rs_864622145

4 SubmittersRCV002381702 RCV003997567 RCV001324571 RCV001507620

NM_000249.4(MLH1):c.1558+1G>A

SNV
Germline

Chr3:37028933

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA348840

rs_267607832

7 SubmittersRCV000204627 RCV000223493 RCV001507621 RCV003454544 RCV000781542

NM_000535.7(PMS2):c.2380C>T (p.Pro794Ser)

SNV
Germline

Chr7:5977653

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Mismatch repair cancer syndrome 4
Mismatch repair cancer syndrome 1
Lynch syndrome 4
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA348346

rs_773393960

13 SubmittersRCV000204089 RCV000662637 RCV000568777 RCV003150094 RCV005361196 RCV000764721 RCV001328413 RCV001753620

NM_000535.7(PMS2):c.1864A>G (p.Met622Val)

SNV
Germline

Chr7:5986901

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Mismatch repair cancer syndrome 4
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA045710

rs_370853512

9 SubmittersRCV000221658 RCV001080254 RCV000588546 RCV005396655

NM_000535.7(PMS2):c.1849C>T (p.Pro617Ser)

SNV
Germline

Chr7:5986916

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA348389

rs_864622096

6 SubmittersRCV000204145 RCV003462361 RCV001013406 RCV001775669 RCV004806196

NM_000535.7(PMS2):c.1552G>A (p.Glu518Lys)

SNV
Germline

Chr7:5987213

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome
Mismatch repair cancer syndrome 1
Lynch syndrome 4
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA044318

rs_376142390

9 SubmittersRCV000206422 RCV000213296 RCV000587309 RCV003997572 RCV000765957 RCV001160656

NM_000535.7(PMS2):c.1438G>A (p.Gly480Arg)

SNV
Germline

Chr7:5987327

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Breast and/or ovarian cancer
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA043581

rs_146848345

11 SubmittersRCV000205844 RCV000215100 RCV000219384 RCV000780614 RCV003491960 RCV003997637

NM_000535.7(PMS2):c.1423G>A (p.Val475Met)

SNV
Germline

Chr7:5987342

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA349875

rs_864622579

4 SubmittersRCV001312363 RCV003165499 RCV003997645

NM_000535.7(PMS2):c.1225G>C (p.Gly409Arg)

SNV
Germline

Chr7:5987540

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA350571

rs_864622553

6 SubmittersRCV000206547 RCV000519330 RCV000217628 RCV004596109 RCV004806206

NM_000535.7(PMS2):c.139C>G (p.Leu47Val)

SNV
Germline

Chr7:6005916

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Hereditary cancer-predisposing syndrome
not specified
Ovarian cancer
Mismatch repair cancer syndrome 4
Lynch syndrome 4
Lynch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA043361

rs_766203500

12 SubmittersRCV000205693 RCV000662464 RCV000575149 RCV001193970 RCV003153480 RCV005042440 RCV003997581 RCV004820000

NM_000535.7(PMS2):c.121G>T (p.Glu41Ter)

SNV
Germline

Chr7:6005934

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Hereditary nonpolyposis colon cancer
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA348188

rs_3209663

4 SubmittersRCV001381485 RCV003454541 RCV004782311 RCV005396635

NM_004168.4(SDHA):c.830C>T (p.Thr277Met)

SNV
Germline

Chr5:230935

Conflicting classifications of pathogenicity

Skeletal myopathy
Mitochondrial complex II deficiency, nuclear type 1
Pheochromocytoma/paraganglioma syndrome 5
Leigh syndrome
Hereditary pheochromocytoma-paraganglioma
Pheochromocytoma/paraganglioma syndrome 5
Mitochondrial complex II deficiency, nuclear type 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Dilated cardiomyopathy 1GG
Neurodegeneration with ataxia and late-onset optic atrophy
Mitochondrial complex II deficiency, nuclear type 1
Dilated cardiomyopathy 1GG
Pheochromocytoma/paraganglioma syndrome 5

Criteria Provided
Conflicting Classifications

CA069792

rs_367721665

10 SubmittersRCV000208222 RCV000228322 RCV000283732 RCV000342145 RCV000411374 RCV000396726 RCV000570331 RCV002510820 RCV003474989 RCV005031782

NM_014159.7(SETD2):c.5444T>G (p.Leu1815Trp)

SNV
Germline

Chr3:47084336

Pathogenic

Luscan-Lumish syndrome

No Assertion Criteria Provided

CA352148

rs_869025570

1 SubmittersRCV000208561

NM_014159.7(SETD2):c.820C>T (p.Gln274Ter)

SNV
Germline

Chr3:47123816

Pathogenic

Luscan-Lumish syndrome

No Assertion Criteria Provided

CA352132

rs_869025571

1 SubmittersRCV000208536

NM_000251.3(MSH2):c.1191A>T (p.Gln397His)

SNV
Germline

Chr2:47429856

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
not specified
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA357776

rs_768694189

9 SubmittersRCV000210074 RCV000568248 RCV000629900 RCV000482758 RCV002267950 RCV003468974

NM_000251.3(MSH2):c.1659C>T (p.Asn553=)

SNV
Germline

Chr2:47466806

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA357817

rs_869312796

5 SubmittersRCV000210193 RCV000491646 RCV004767155 RCV000920254

NM_000251.3(MSH2):c.1796T>C (p.Leu599Ser)

SNV
Germline

Chr2:47475061

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome
Lynch syndrome 1
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
MSH2-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA031393

rs_747504492

13 SubmittersRCV000219087 RCV000210095 RCV000662912 RCV000520524 RCV000530644 RCV004541299 RCV003330582

NM_000179.3(MSH6):c.1046A>G (p.Gln349Arg)

SNV
Germline

Chr2:47799029

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA357784

rs_869312797

6 SubmittersRCV000210099 RCV000220598 RCV000523088 RCV000524098

NM_000179.3(MSH6):c.1847C>G (p.Ser616Cys)

SNV
Germline

Chr2:47799830

Conflicting classifications of pathogenicity

Lynch syndrome
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA068191

rs_772363120

11 SubmittersRCV000210205 RCV000410099 RCV000524121 RCV000575424 RCV001284178 RCV003479062

NM_000179.3(MSH6):c.2210C>T (p.Ala737Val)

SNV
Germline

Chr2:47800193

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA357802

rs_869312798

5 SubmittersRCV000210157 RCV000215593 RCV001044010

NM_000179.3(MSH6):c.2701C>A (p.Arg901Ser)

SNV
Germline

Chr2:47800684

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA069480

rs_772514245

6 SubmittersRCV000210111 RCV000217860 RCV000693978 RCV002469072 RCV004567494

NM_000249.4(MLH1):c.545G>C (p.Arg182Thr)

SNV
Germline

Chr3:37008905

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Conflicting Classifications

CA357827

rs_587779021

3 SubmittersRCV000210209 RCV000698424 RCV003454550

NM_000535.7(PMS2):c.1703C>G (p.Pro568Arg)

SNV
Germline

Chr7:5987062

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome
Lynch syndrome 4
not specified

Criteria Provided
Conflicting Classifications

CA357814

rs_869312801

9 SubmittersRCV000524444 RCV000217199 RCV000479827 RCV000210189 RCV003468975 RCV003493511

NM_000540.3(RYR1):c.2029C>T (p.Gln677Ter)

SNV
Germline

Chr19:38458154

Pathogenic

RYR1-related disorder
Condition: not provided
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
Congenital multicore myopathy with external ophthalmoplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA16616833

rs_878854365

5 SubmittersRCV000550931 RCV001782728 RCV005003587

NM_004168.4(SDHA):c.133G>A (p.Ala45Thr)

SNV
Germline

Chr5:223551

Conflicting classifications of pathogenicity

Mitochondrial complex II deficiency, nuclear type 1
Pheochromocytoma/paraganglioma syndrome 5
Leigh syndrome
Hereditary pheochromocytoma-paraganglioma
Pheochromocytoma/paraganglioma syndrome 5
Mitochondrial complex II deficiency, nuclear type 1
Hereditary cancer-predisposing syndrome
Hereditary renal cell carcinoma
Condition: not provided
not specified
SDHA-related disorder

Criteria Provided
Conflicting Classifications

CA358573

rs_140736646

16 SubmittersRCV000210508 RCV000308179 RCV000347454 RCV000410936 RCV000401643 RCV000572294 RCV000678682 RCV001355540 RCV003330583 RCV004530260

NM_004168.4(SDHA):c.1368G>A (p.Ser456=)

SNV
Germline

Chr5:236535

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Hereditary cancer-predisposing syndrome
Mitochondrial complex II deficiency, nuclear type 1
Pheochromocytoma/paraganglioma syndrome 5
Leigh syndrome
Mitochondrial complex II deficiency, nuclear type 1
Hereditary pheochromocytoma-paraganglioma
Pheochromocytoma/paraganglioma syndrome 5
Neurodegeneration with ataxia and late-onset optic atrophy
Mitochondrial complex II deficiency, nuclear type 1
Dilated cardiomyopathy 1GG
Pheochromocytoma/paraganglioma syndrome 5

Criteria Provided
Conflicting Classifications

CA358579

rs_149875171

16 SubmittersRCV000210523 RCV000247565 RCV000570838 RCV001080809 RCV001157831 RCV001157832 RCV001157833 RCV003316163 RCV005396683

NM_004168.4(SDHA):c.17G>A (p.Gly6Asp)

SNV
Germline

Chr5:218372

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hereditary pheochromocytoma-paraganglioma
Leigh syndrome
Mitochondrial complex II deficiency, nuclear type 1
Pheochromocytoma/paraganglioma syndrome 5
Hereditary cancer-predisposing syndrome
Mitochondrial complex II deficiency, nuclear type 1
Pheochromocytoma/paraganglioma syndrome 5
Neurodegeneration with ataxia and late-onset optic atrophy
Mitochondrial complex II deficiency, nuclear type 1
Dilated cardiomyopathy 1GG
Pheochromocytoma/paraganglioma syndrome 5

Criteria Provided
Conflicting Classifications

CA358571

rs_187964306

11 SubmittersRCV000216190 RCV000224380 RCV000282383 RCV000349064 RCV000374489 RCV000411625 RCV000573807 RCV001080211 RCV005396685

NM_004168.4(SDHA):c.822C>T (p.Gly274=)

SNV
Germline

Chr5:230927

Conflicting classifications of pathogenicity

Mitochondrial complex II deficiency, nuclear type 1
Pheochromocytoma/paraganglioma syndrome 5
Leigh syndrome
Mitochondrial complex II deficiency, nuclear type 1
Hereditary pheochromocytoma-paraganglioma
not specified
Hereditary cancer-predisposing syndrome
Pheochromocytoma/paraganglioma syndrome 5
Condition: not provided
Neurodegeneration with ataxia and late-onset optic atrophy
Mitochondrial complex II deficiency, nuclear type 1
Dilated cardiomyopathy 1GG
Pheochromocytoma/paraganglioma syndrome 5

Criteria Provided
Conflicting Classifications

CA358575

rs_34771391

13 SubmittersRCV000210510 RCV000287211 RCV000317795 RCV000372488 RCV000426962 RCV000570502 RCV003316165 RCV003736642 RCV005396686

NM_004168.4(SDHA):c.1305G>T (p.Leu435=)

SNV
Germline

Chr5:236472

Conflicting classifications of pathogenicity

Mitochondrial complex II deficiency, nuclear type 1
Pheochromocytoma/paraganglioma syndrome 5
not specified
Leigh syndrome
Mitochondrial complex II deficiency, nuclear type 1
Hereditary pheochromocytoma-paraganglioma
Hereditary cancer-predisposing syndrome
Condition: not provided
Pheochromocytoma/paraganglioma syndrome 5
Neurodegeneration with ataxia and late-onset optic atrophy
Mitochondrial complex II deficiency, nuclear type 1
Dilated cardiomyopathy 1GG
Pheochromocytoma/paraganglioma syndrome 5

Criteria Provided
Conflicting Classifications

CA358583

rs_35964044

14 SubmittersRCV000210529 RCV000242588 RCV000291485 RCV000346462 RCV000376037 RCV000565630 RCV003114371 RCV003316166 RCV005396687

NM_004168.4(SDHA):c.1413C>T (p.Ile471=)

SNV
Germline

Chr5:236580

Conflicting classifications of pathogenicity

Mitochondrial complex II deficiency, nuclear type 1
Pheochromocytoma/paraganglioma syndrome 5
not specified
Hereditary cancer-predisposing syndrome
Hereditary pheochromocytoma-paraganglioma
Leigh syndrome
Mitochondrial complex II deficiency, nuclear type 1
Condition: not provided
Pheochromocytoma/paraganglioma syndrome 5
SDHA-related disorder
Neurodegeneration with ataxia and late-onset optic atrophy
Mitochondrial complex II deficiency, nuclear type 1
Dilated cardiomyopathy 1GG
Pheochromocytoma/paraganglioma syndrome 5

Criteria Provided
Conflicting Classifications

CA358577

rs_34779890

13 SubmittersRCV000210520 RCV000437200 RCV000562445 RCV001152356 RCV001152357 RCV001157834 RCV001579483 RCV003316168 RCV004541303 RCV005396689

NM_000540.3(RYR1):c.10347+1G>A

SNV
Germline

Chr19:38523116

Pathogenic/Likely pathogenic

Inborn genetic diseases
Condition: not provided
RYR1-related disorder
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Congenital myopathy with fiber type disproportion
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
King Denborough syndrome
Central core myopathy
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA053108

rs_111436401

9 SubmittersRCV000210710 RCV000521927 RCV000695241 RCV000763426 RCV000995628 RCV002259320 RCV005025343

NM_024120.5(NDUFAF5):c.836T>G (p.Met279Arg)

SNV
Germline

Chr20:13816520

Pathogenic/Likely pathogenic

Inborn genetic diseases
Mitochondrial complex I deficiency
Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 16
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA358016

rs_761389904

8 SubmittersRCV000210569 RCV000679869 RCV001275555 RCV001507280 RCV002517436

NM_000251.3(MSH2):c.1384C>T (p.Gln462Ter)

SNV
Germline

Chr2:47445655

Pathogenic/Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer
Lynch syndrome 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10576596

rs_876657701

6 SubmittersRCV000220084 RCV000492035 RCV000630030 RCV001264489 RCV003454595 RCV004760441

NM_000179.3(MSH6):c.359T>C (p.Ile120Thr)

SNV
Germline

Chr2:47791025

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Lynch syndrome 5
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA071457

rs_775971872

11 SubmittersRCV000214442 RCV000589961 RCV000629813 RCV000708853 RCV000986701 RCV003462406

NM_000179.3(MSH6):c.599C>G (p.Ser200Ter)

SNV
Germline

Chr2:47796035

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Endometrial carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA10577254

rs_63751077

5 SubmittersRCV000217643 RCV000491993 RCV000692262 RCV003454671 RCV003463614

NM_000179.3(MSH6):c.898C>T (p.Arg300Trp)

SNV
Germline

Chr2:47798881

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
not specified
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA073553

rs_779858670

9 SubmittersRCV000220107 RCV000465049 RCV000566281 RCV001798725 RCV002229338 RCV003998626 RCV004567681

NM_000179.3(MSH6):c.1858G>A (p.Gly620Ser)

SNV
Germline

Chr2:47799841

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
MSH6-related disorder
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA10577265

rs_876661043

10 SubmittersRCV000215890 RCV000225881 RCV000569553 RCV000662360 RCV004541361 RCV003998620 RCV004567677

NM_000179.3(MSH6):c.910G>A (p.Val304Met)

SNV
Germline

Chr2:47798893

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Hereditary cancer-predisposing syndrome
Lynch syndrome
Endometrial carcinoma
Lynch syndrome 5
Mismatch repair cancer syndrome 3

Criteria Provided
Conflicting Classifications

CA10577267

rs_876661207

9 SubmittersRCV000220303 RCV000540281 RCV000663285 RCV000771395 RCV004806249 RCV005396734

NM_000179.3(MSH6):c.1729C>G (p.Arg577Gly)

SNV
Germline

Chr2:47799712

Conflicting classifications of pathogenicity

not specified
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Endometrial carcinoma
Lynch syndrome
MSH6-related disorder
Endometrial carcinoma
Mismatch repair cancer syndrome 3
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA068077

rs_542838372

11 SubmittersRCV000223441 RCV000555846 RCV000564916 RCV000766399 RCV003469114 RCV003998645 RCV004739624 RCV005025371

NM_000179.3(MSH6):c.2195G>A (p.Arg732Gln)

SNV
Germline/somatic

Chr2:47800178

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA068599

rs_749746725

6 SubmittersRCV000223534 RCV000532996 RCV000564357 RCV000758666

NM_000179.3(MSH6):c.2673C>G (p.Ile891Met)

SNV
Germline

Chr2:47800656

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA069419

rs_146006741

4 SubmittersRCV000215122 RCV000473265 RCV001016279 RCV003998617

NM_000179.3(MSH6):c.2906A>G (p.Tyr969Cys)

SNV
Germline

Chr2:47800889

Likely pathogenic

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Lynch syndrome 5
Gastric cancer
Endometrial carcinoma

Reviewed By Expert Panel

CA069803

rs_63749919

9 SubmittersRCV000218181 RCV000458194 RCV000491101 RCV000623975 RCV002467444 RCV003165582 RCV003463615

NM_000179.3(MSH6):c.2963G>A (p.Arg988His)

SNV
Germline

Chr2:47800946

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Endometrial carcinoma
Lynch syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA069876

rs_115386788

8 SubmittersRCV000214813 RCV000534216 RCV000566696 RCV001354499 RCV003998623 RCV005420864

NM_000179.3(MSH6):c.2899A>G (p.Ile967Val)

SNV
Germline

Chr2:47800882

Conflicting classifications of pathogenicity

not specified
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Ovarian cancer
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10577283

rs_876661067

7 SubmittersRCV000214691 RCV000461768 RCV000573070 RCV000657064 RCV003153515 RCV003998622

NM_000179.3(MSH6):c.3257C>T (p.Pro1086Leu)

SNV
Germline

Chr2:47803504

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome
Endometrial carcinoma
Mismatch repair cancer syndrome 3
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA10577285

rs_780345806

8 SubmittersRCV000222192 RCV000536806 RCV000562792 RCV001174616 RCV003998628 RCV005031804

NM_000179.3(MSH6):c.3703C>G (p.Leu1235Val)

SNV
Germline

Chr2:47806260

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA10577292

rs_876661084

9 SubmittersRCV000218152 RCV000570599 RCV000630095 RCV003998627 RCV005361356

NM_000179.3(MSH6):c.3946G>C (p.Gly1316Arg)

SNV
Germline

Chr2:47806596

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA072354

rs_773675555

4 SubmittersRCV000221062 RCV001205042 RCV002354622 RCV003333744

NM_000179.3(MSH6):c.3979A>C (p.Asn1327His)

SNV
Germline

Chr2:47806629

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Endometrial carcinoma
Lynch syndrome
Endometrial carcinoma
Mismatch repair cancer syndrome 3
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA072425

rs_756216566

9 SubmittersRCV000216522 RCV000567812 RCV000630217 RCV001201279 RCV003463610 RCV003998616 RCV005396732

NM_000249.4(MLH1):c.157G>A (p.Glu53Lys)

SNV
Germline

Chr3:36996659

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10577301

rs_63751199

5 SubmittersRCV000219506 RCV000581145 RCV000701302 RCV003998631

NM_000249.4(MLH1):c.392C>G (p.Ser131Ter)

SNV
Germline

Chr3:37007002

Pathogenic

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA10577305

rs_63749818

5 SubmittersRCV000220277 RCV001380045 RCV001804961 RCV002354620 RCV003454662

NM_000249.4(MLH1):c.991G>A (p.Glu331Lys)

SNV
Germline

Chr3:37020416

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
not specified
MLH1-related disorder
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA039274

rs_550914672

14 SubmittersRCV000213338 RCV000222012 RCV000537429 RCV001257463 RCV001818518 RCV003417783 RCV003997823

NM_000249.4(MLH1):c.1490G>A (p.Arg497Gln)

SNV
Germline

Chr3:37028864

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Conflicting Classifications

CA029036

rs_754554026

9 SubmittersRCV000214903 RCV000462302 RCV000774707 RCV001264530 RCV003998618 RCV004567675

NM_000249.4(MLH1):c.1538T>C (p.Ile513Thr)

SNV
Germline

Chr3:37028912

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10577313

rs_876658689

7 SubmittersRCV000219458 RCV000220692 RCV001214215 RCV001420849 RCV003462446 RCV003997854

NM_000249.4(MLH1):c.1876T>C (p.Phe626Leu)

SNV
Germline

Chr3:37047663

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
not specified
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Conflicting Classifications

CA031166

rs_377241633

11 SubmittersRCV000214440 RCV000708930 RCV000216958 RCV000462112 RCV003330588 RCV005365155 RCV003475015

NM_000535.7(PMS2):c.2560G>A (p.Ala854Thr)

SNV
Germline/somatic

Chr7:5973428

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Mismatch repair cancer syndrome 1
Lynch syndrome 4
Lynch-like syndrome
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA048880

rs_574371474

8 SubmittersRCV000217218 RCV000222472 RCV000530024 RCV000764718 RCV001249991 RCV005600833

NM_000535.7(PMS2):c.2445+1G>T

SNV
Germline

Chr7:5977587

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
not specified
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colon cancer
Carcinoma of colon
Lynch syndrome 4
Lynch syndrome 4
Mismatch repair cancer syndrome 4
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10577331

rs_876661113

16 SubmittersRCV000219334 RCV000228982 RCV000507182 RCV000575263 RCV001193818 RCV001358436 RCV002288907 RCV002494606 RCV004017528

NM_000535.7(PMS2):c.2011A>G (p.Thr671Ala)

SNV
Germline

Chr7:5982987

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA10577333

rs_876661087

4 SubmittersRCV000217200 RCV001054379 RCV002415911 RCV004567682

NM_000535.7(PMS2):c.2266G>A (p.Asp756Asn)

SNV
Germline

Chr7:5978605

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 4
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA047182

rs_762206330

8 SubmittersRCV000465930 RCV000223544 RCV003469106 RCV001014982 RCV001527024

NM_000535.7(PMS2):c.2522G>A (p.Trp841Ter)

SNV
Germline

Chr7:5973466

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA10577334

rs_876661203

4 SubmittersRCV000217259 RCV000533097 RCV002429081 RCV004020709

NM_000535.7(PMS2):c.1430C>A (p.Ser477Tyr)

SNV
Germline

Chr7:5987335

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10577343

rs_876661291

6 SubmittersRCV000217395 RCV000472890 RCV000563463 RCV003153517 RCV003998648

NM_000535.7(PMS2):c.631C>T (p.Arg211Ter)

SNV
Germline

Chr7:5999182

Pathogenic

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Gastric cancer
Mismatch repair cancer syndrome 4
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA050695

rs_760228510

12 SubmittersRCV000222317 RCV000473579 RCV000568505 RCV001174885 RCV003165579 RCV003315238 RCV003454666

NM_000535.7(PMS2):c.353+1G>A

SNV
Germline

Chr7:6003689

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Hereditary nonpolyposis colon cancer
Mismatch repair cancer syndrome 4
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA10577352

rs_113517055

8 SubmittersRCV000217968 RCV000476751 RCV000776211 RCV003153516 RCV002265698 RCV005431562

NM_000535.7(PMS2):c.321G>C (p.Arg107=)

SNV
Germline

Chr7:6003722

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA10577358

rs_756420858

6 SubmittersRCV000213219 RCV001019303 RCV001487947 RCV003998635 RCV005420866

NM_000535.7(PMS2):c.7C>T (p.Arg3Ter)

SNV
Germline

Chr7:6009013

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA10577360

rs_763939668

7 SubmittersRCV000222827 RCV001069268 RCV002415912 RCV003454674

NM_000535.7(PMS2):c.11C>G (p.Ala4Gly)

SNV
Germline

Chr7:6009009

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 4
not specified
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Malignant tumor of breast
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA042517

rs_745361721

15 SubmittersRCV000214339 RCV000662535 RCV000222258 RCV000230374 RCV000657052 RCV001354151 RCV003997985

NM_000251.3(MSH2):c.-82G>C

SNV
Germline

Chr2:47403110

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Condition: not provided
Lynch syndrome 1
Muir-Torré syndrome
Mismatch repair cancer syndrome 2
Hereditary nonpolyposis colorectal neoplasms
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA10577908

rs_866991159

7 SubmittersRCV000219414 RCV001267894 RCV001549839 RCV005361286 RCV005090087 RCV003491972

NM_000251.3(MSH2):c.11A>T (p.Gln4Leu)

SNV
Germline

Chr2:47403202

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA027207

rs_754562075

6 SubmittersRCV000219790 RCV000235807 RCV000473744 RCV000663256

NM_000251.3(MSH2):c.149C>A (p.Ala50Glu)

SNV
Germline

Chr2:47403340

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Mismatch repair cancer syndrome 2
Lynch syndrome 1
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA10577920

rs_876658582

5 SubmittersRCV000215229 RCV000554733 RCV002264919 RCV005365149

NM_000251.3(MSH2):c.157G>T (p.Ala53Ser)

SNV
Germline

Chr2:47403348

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary nonpolyposis colon cancer

Criteria Provided
Conflicting Classifications

CA029624

rs_755931648

6 SubmittersRCV000222303 RCV000708826 RCV000813496 RCV003469045 RCV005438360

NM_000251.3(MSH2):c.160G>A (p.Ala54Thr)

SNV
Germline

Chr2:47403351

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome
Mismatch repair cancer syndrome 2
Lynch syndrome 1
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA10577921

rs_749212640

8 SubmittersRCV000220104 RCV000814579 RCV000679293 RCV003997771 RCV005025356

NM_000251.3(MSH2):c.183G>T (p.Gln61His)

SNV
Germline

Chr2:47403374

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Muir-Torré syndrome
Lynch syndrome 1
Mismatch repair cancer syndrome 2

Criteria Provided
Conflicting Classifications

CA031694

rs_751082926

6 SubmittersRCV000216596 RCV000537297 RCV001753678 RCV005396726

NM_000251.3(MSH2):c.200T>A (p.Met67Lys)

SNV
Germline

Chr2:47403391

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10577924

rs_876660001

7 SubmittersRCV000222393 RCV000550333 RCV000662879 RCV001762495

NM_000251.3(MSH2):c.260C>A (p.Ser87Tyr)

SNV
Germline

Chr2:47408449

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA10577927

rs_587781447

6 SubmittersRCV000216857 RCV000235359 RCV001320134 RCV003997919 RCV002254690

NM_000251.3(MSH2):c.266T>C (p.Val89Ala)

SNV
Germline

Chr2:47408455

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary breast ovarian cancer syndrome
Lynch syndrome
not specified
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA10577929

rs_876659747

7 SubmittersRCV000215101 RCV000227027 RCV001030705 RCV003997972 RCV001532987 RCV005420821

NM_000251.3(MSH2):c.320C>G (p.Ala107Gly)

SNV
Germline

Chr2:47408509

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA10577932

rs_876658935

5 SubmittersRCV000221016 RCV000702606 RCV004822018 RCV003469023

NM_000251.3(MSH2):c.433A>G (p.Ile145Val)

SNV
Germline

Chr2:47410160

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10577937

rs_876659264

8 SubmittersRCV000221599 RCV000465648 RCV000483760 RCV000662917 RCV000780457 RCV003997912

NM_000251.3(MSH2):c.488T>C (p.Val163Ala)

SNV
Germline

Chr2:47410215

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10577939

rs_63750214

4 SubmittersRCV000221949 RCV001365859 RCV003997762

NM_000251.3(MSH2):c.755A>C (p.Gln252Pro)

SNV
Germline

Chr2:47412523

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10577948

rs_370906735

6 SubmittersRCV000221892 RCV000538161 RCV001139363 RCV003997867

NM_000251.3(MSH2):c.763A>G (p.Ser255Gly)

SNV
Germline

Chr2:47412531

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA040330

rs_761529282

6 SubmittersRCV000222095 RCV000526634 RCV000757937 RCV005246832

NM_000251.3(MSH2):c.812C>A (p.Ser271Tyr)

SNV
Germline

Chr2:47414288

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10577954

rs_139891783

4 SubmittersRCV000214470 RCV000819833 RCV003156236 RCV004806232

NM_000251.3(MSH2):c.816G>A (p.Ala272=)

SNV
Germline

Chr2:47414292

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA040753

rs_368912987

9 SubmittersRCV000214094 RCV000545840 RCV001139364 RCV001558615 RCV003998022

NM_000251.3(MSH2):c.855C>G (p.Asn285Lys)

SNV
Germline

Chr2:47414331

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Condition: not provided
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10577957

rs_759242666

8 SubmittersRCV000213764 RCV000548278 RCV000506029 RCV002243895 RCV003462428 RCV003997816

NM_000251.3(MSH2):c.885C>G (p.Asp295Glu)

SNV
Germline

Chr2:47414361

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome
not specified

Criteria Provided
Conflicting Classifications

CA041012

rs_201334592

11 SubmittersRCV000220130 RCV000411007 RCV000469366 RCV000589679 RCV003997848 RCV005055758

NM_000251.3(MSH2):c.888C>G (p.Phe296Leu)

SNV
Germline

Chr2:47414364

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10577958

rs_876659918

6 SubmittersRCV000214812 RCV000659880 RCV001067169 RCV003997995

NM_000251.3(MSH2):c.938T>C (p.Phe313Ser)

SNV
Germline

Chr2:47414414

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Lynch syndrome
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA041188

rs_780656204

6 SubmittersRCV000219588 RCV000461288 RCV003469076 RCV003998553 RCV005365167

NM_000251.3(MSH2):c.1012G>C (p.Gly338Arg)

SNV
Germline

Chr2:47416365

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10577964

rs_63751004

4 SubmittersRCV000218258 RCV000255930 RCV001232403 RCV003454644

NM_000251.3(MSH2):c.1021C>G (p.Leu341Val)

SNV
Germline

Chr2:47416374

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA026646

rs_748115066

10 SubmittersRCV000232111 RCV000236110 RCV000220354 RCV000662429 RCV003997950

NM_000251.3(MSH2):c.1062C>T (p.Asn354=)

SNV
Germline

Chr2:47416415

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA10577966

rs_876659861

5 SubmittersRCV000215205 RCV002057206 RCV003997986 RCV005246840

NM_000251.3(MSH2):c.1077-3C>T

SNV
Germline

Chr2:47429739

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
not specified
Breast and/or ovarian cancer
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA026916

rs_758182607

7 SubmittersRCV000221368 RCV000235545 RCV000629733 RCV002267962 RCV003150127 RCV003997988

NM_000251.3(MSH2):c.1121A>G (p.Gln374Arg)

SNV
Germline

Chr2:47429786

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
not specified
Malignant tumor of breast
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA027012

rs_749660228

10 SubmittersRCV000213803 RCV000483512 RCV001080950 RCV001093680 RCV001175089 RCV001355857 RCV003491975

NM_000251.3(MSH2):c.1144C>T (p.Arg382Cys)

SNV
Germline

Chr2:47429809

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
not specified

Criteria Provided
Conflicting Classifications

CA027079

rs_752373431

12 SubmittersRCV000214618 RCV000409794 RCV000480571 RCV000546544 RCV000761006 RCV003387810

NM_000251.3(MSH2):c.1250T>G (p.Val417Gly)

SNV
Germline

Chr2:47429915

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA10577969

rs_876659846

5 SubmittersRCV000216853 RCV001072003 RCV001800565 RCV004567607

NM_000251.3(MSH2):c.1390G>T (p.Glu464Ter)

SNV
Germline

Chr2:47463034

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colon cancer
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10577974

rs_876658223

5 SubmittersRCV000215886 RCV002229540 RCV002519663 RCV003454612 RCV004806215

NM_000251.3(MSH2):c.1465G>A (p.Glu489Lys)

SNV
Germline

Chr2:47463109

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10577978

rs_876658187

10 SubmittersRCV000222532 RCV000236848 RCV000473755 RCV000663243 RCV003997770

NM_000251.3(MSH2):c.1480T>C (p.Ser494Pro)

SNV
Germline

Chr2:47463124

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Muir-Torré syndrome
Lynch syndrome 1
Mismatch repair cancer syndrome 2
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA028810

rs_55653533

8 SubmittersRCV000219106 RCV000475338 RCV001589154 RCV002485427 RCV003998020 RCV003462508

NM_000251.3(MSH2):c.1489A>G (p.Ile497Val)

SNV
Germline

Chr2:47463133

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA028875

rs_755501968

9 SubmittersRCV000219613 RCV000483517 RCV000630079 RCV000986672 RCV002229222 RCV003997850

NM_000251.3(MSH2):c.1539G>A (p.Leu513=)

SNV
Germline

Chr2:47466686

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA029432

rs_777195739

6 SubmittersRCV000214600 RCV000462815 RCV003477771 RCV003998597 RCV005246860

NM_000251.3(MSH2):c.1645G>A (p.Val549Ile)

SNV
Germline

Chr2:47466792

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10577979

rs_876659905

5 SubmittersRCV000218213 RCV000629673 RCV003462501 RCV004998472

NM_000251.3(MSH2):c.1661+5G>A

SNV
Germline

Chr2:47466813

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary nonpolyposis colon cancer

Criteria Provided
Conflicting Classifications

CA10577982

rs_267607972

4 SubmittersRCV000216875 RCV001220176 RCV002282051 RCV005237735

NM_000251.3(MSH2):c.1748A>T (p.Asn583Ile)

SNV
Germline

Chr2:47471051

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Condition: not provided
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10577984

rs_201118107

14 SubmittersRCV000220254 RCV000230549 RCV000663329 RCV001800541 RCV001818514 RCV001358260

NM_000251.3(MSH2):c.1825G>T (p.Ala609Ser)

SNV
Germline

Chr2:47475090

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Condition: not provided
Lynch syndrome
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA031583

rs_150980616

7 SubmittersRCV000223424 RCV000477055 RCV000765670 RCV001550360 RCV003997795 RCV004532776

NM_000251.3(MSH2):c.1943T>A (p.Ile648Asn)

SNV
Germline

Chr2:47475208

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Malignant tumor of breast
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA032124

rs_763100088

9 SubmittersRCV000222363 RCV000523371 RCV000629936 RCV001355204 RCV003469093 RCV003998593

NM_000251.3(MSH2):c.1946C>T (p.Ala649Val)

SNV
Germline

Chr2:47475211

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
MSH2-related disorder
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA10577989

rs_876659816

6 SubmittersRCV000220154 RCV001220357 RCV003997980 RCV004734876 RCV005235140

NM_000251.3(MSH2):c.1967A>G (p.Tyr656Cys)

SNV
Germline

Chr2:47475232

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
MSH2-related disorder
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA032208

rs_185356145

9 SubmittersRCV000213193 RCV000477485 RCV000791407 RCV000985799 RCV004532791 RCV003469050

NM_000251.3(MSH2):c.1999A>G (p.Ile667Val)

SNV
Germline

Chr2:47475264

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA10577992

rs_876660585

3 SubmittersRCV000217308 RCV001301645 RCV003462530

NM_000251.3(MSH2):c.2030C>G (p.Thr677Arg)

SNV
Germline

Chr2:47476391

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10577995

rs_876660711

6 SubmittersRCV000215510 RCV000462315 RCV000484436 RCV003454658

NM_000251.3(MSH2):c.2032T>C (p.Tyr678His)

SNV
Germline

Chr2:47476393

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA10577996

rs_876659093

3 SubmittersRCV000221435 RCV002228960 RCV003462461

NM_000251.3(MSH2):c.2099C>A (p.Ala700Glu)

SNV
Germline

Chr2:47476460

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10577997

rs_876658251

2 SubmittersRCV000215093 RCV003454614

NM_000251.3(MSH2):c.2102A>C (p.Glu701Ala)

SNV
Germline

Chr2:47476463

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10577998

rs_876659187

5 SubmittersRCV000221209 RCV000479697 RCV000553991 RCV003997901

NM_000251.3(MSH2):c.2111T>C (p.Ile704Thr)

SNV
Germline

Chr2:47476472

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1
Lynch syndrome
Malignant tumor of breast

Criteria Provided
Conflicting Classifications

CA033790

rs_564657106

10 SubmittersRCV000222410 RCV000227730 RCV000483732 RCV000411876 RCV000708841 RCV001356541

NM_000251.3(MSH2):c.2120G>C (p.Cys707Ser)

SNV
Germline

Chr2:47476481

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA034085

rs_373226409

6 SubmittersRCV000213584 RCV000795839 RCV003137826 RCV003998040

NM_000251.3(MSH2):c.2158A>G (p.Lys720Glu)

SNV
Germline

Chr2:47476519

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
MSH2-related disorder
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA034415

rs_747265823

5 SubmittersRCV000214268 RCV000524727 RCV004777630 RCV004532799 RCV004567613

NM_000251.3(MSH2):c.2206C>T (p.Leu736Phe)

SNV
Germline

Chr2:47476567

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10578000

rs_876658727

3 SubmittersRCV000213595 RCV002518276 RCV003997857

NM_000251.3(MSH2):c.2260A>T (p.Thr754Ser)

SNV
Germline

Chr2:47478321

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Condition: not provided
Mismatch repair cancer syndrome 2
Lynch syndrome 1
Muir-Torré syndrome
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA035112

rs_757268664

9 SubmittersRCV000221755 RCV000464199 RCV000780438 RCV001843496 RCV002485413 RCV003997767 RCV004020644

NM_000251.3(MSH2):c.2272G>T (p.Asp758Tyr)

SNV
Germline

Chr2:47478333

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA10578001

rs_876658254

4 SubmittersRCV000215978 RCV001222233 RCV003454615

NM_000251.3(MSH2):c.2447A>G (p.Gln816Arg)

SNV
Germline

Chr2:47478508

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Ovarian cancer
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA035821

rs_768572053

6 SubmittersRCV000221679 RCV000985803 RCV001236583 RCV003153497 RCV003997783

NM_000251.3(MSH2):c.2515C>G (p.His839Asp)

SNV
Germline

Chr2:47480752

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA10578009

rs_876659466

5 SubmittersRCV000218052 RCV000629882 RCV001175264 RCV003997937 RCV005361306

NM_000251.3(MSH2):c.2580G>A (p.Ser860=)

SNV
Germline

Chr2:47480817

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Condition: not provided
not specified
Lynch syndrome
MSH2-related disorder
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA036718

rs_752428475

12 SubmittersRCV000217383 RCV000229354 RCV001142095 RCV001722191 RCV003330590 RCV003997953 RCV004532792 RCV005361310

NM_000251.3(MSH2):c.2634+2T>G

SNV
Germline

Chr2:47480873

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10578012

rs_876660546

3 SubmittersRCV000219827 RCV000985806 RCV003454651

NM_000251.3(MSH2):c.2718A>G (p.Ile906Met)

SNV
Germline

Chr2:47482862

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10578017

rs_876659835

4 SubmittersRCV000216683 RCV002229281 RCV003997983

NM_000179.3(MSH6):c.3G>T (p.Met1Ile)

SNV
Germline

Chr2:47783236

Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA10578019

rs_876660095

4 SubmittersRCV000219646 RCV000485238 RCV000680209 RCV000793054

NM_000179.3(MSH6):c.63C>G (p.Asn21Lys)

SNV
Germline

Chr2:47783296

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10578021

rs_876660097

4 SubmittersRCV000216301 RCV000479204 RCV000814244 RCV003998016

NM_000179.3(MSH6):c.135C>A (p.Gly45=)

SNV
Germline

Chr2:47783368

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Lynch syndrome 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10578023

rs_876659020

7 SubmittersRCV000220037 RCV000464611 RCV003997888 RCV005420800 RCV003477728

NM_000179.3(MSH6):c.184C>A (p.Arg62Ser)

SNV
Germline

Chr2:47783417

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA10578027

rs_876659508

8 SubmittersRCV000219210 RCV001705217 RCV000697068 RCV003997941 RCV005600842

NM_000179.3(MSH6):c.249T>G (p.Ala83=)

SNV
Germline

Chr2:47783482

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10578030

rs_876658308

7 SubmittersRCV000215709 RCV000663019 RCV000874029 RCV003997788

NM_000179.3(MSH6):c.494T>G (p.Phe165Cys)

SNV
Germline

Chr2:47795930

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA073070

rs_763841886

7 SubmittersRCV000215845 RCV000534390 RCV001762481 RCV003997884 RCV004698831

NM_000179.3(MSH6):c.627+3G>A

SNV
Germline

Chr2:47796066

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA10578039

rs_876659495

5 SubmittersRCV000217995 RCV000434456 RCV001068314 RCV005425840

NM_000179.3(MSH6):c.637A>C (p.Thr213Pro)

SNV
Germline

Chr2:47798620

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Condition: not provided
Endometrial carcinoma
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10578041

rs_876659071

9 SubmittersRCV000215713 RCV000555550 RCV000663154 RCV002280111 RCV003462459 RCV004526646 RCV003997891

NM_000179.3(MSH6):c.667A>G (p.Asn223Asp)

SNV
Germline

Chr2:47798650

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Malignant tumor of breast
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA073334

rs_374041375

7 SubmittersRCV000228836 RCV000223134 RCV001201254 RCV001355754 RCV003997984 RCV003462500

NM_000179.3(MSH6):c.719G>A (p.Arg240Gln)

SNV
Germline

Chr2:47798702

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 5
not specified
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA073373

rs_542848931

10 SubmittersRCV000216536 RCV000476259 RCV000481509 RCV000659888 RCV000781606 RCV003462452 RCV003997874

NM_000179.3(MSH6):c.921T>C (p.Asn307=)

SNV
Germline

Chr2:47798904

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA10578053

rs_876659492

5 SubmittersRCV000223423 RCV000552051 RCV000842007 RCV005420814

NM_000179.3(MSH6):c.942C>G (p.Ser314Arg)

SNV
Germline

Chr2:47798925

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Lynch syndrome 5
not specified
MSH6-related disorder
Mismatch repair cancer syndrome 3

Criteria Provided
Conflicting Classifications

CA073603

rs_150440246

13 SubmittersRCV000219163 RCV000478810 RCV000475100 RCV000761132 RCV000659889 RCV002265689 RCV004739607 RCV005361247

NM_000179.3(MSH6):c.972A>C (p.Lys324Asn)

SNV
Germline

Chr2:47798955

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 5
not specified
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10578055

rs_876658610

12 SubmittersRCV000216324 RCV000229706 RCV000483787 RCV000663012 RCV001328357 RCV003462441 RCV003997842

NM_000179.3(MSH6):c.1035T>A (p.Asn345Lys)

SNV
Germline

Chr2:47799018

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA067060

rs_765166082

5 SubmittersRCV000223357 RCV000798414 RCV003463597 RCV004806246

NM_000179.3(MSH6):c.1127A>G (p.Glu376Gly)

SNV
Germline

Chr2:47799110

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Endometrial carcinoma
Hereditary nonpolyposis colon cancer
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA067175

rs_764150912

10 SubmittersRCV000213418 RCV000791357 RCV001559019 RCV003462454 RCV003993897 RCV003993896 RCV004806223

NM_000179.3(MSH6):c.1403G>C (p.Arg468Pro)

SNV
Germline

Chr2:47799386

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA10578069

rs_41295268

7 SubmittersRCV000223504 RCV000456959 RCV000486815 RCV003998047 RCV003469073

NM_000179.3(MSH6):c.1501C>T (p.His501Tyr)

SNV
Germline

Chr2:47799484

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Lynch syndrome
MSH6-related disorder
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA067771

rs_779411998

8 SubmittersRCV000467079 RCV000223633 RCV001093674 RCV001354875 RCV004532793 RCV004567593

NM_000179.3(MSH6):c.1525G>C (p.Val509Leu)

SNV
Germline

Chr2:47799508

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10578073

rs_876660317

6 SubmittersRCV000218406 RCV000466630 RCV000481397 RCV003469072 RCV003998046

NM_000179.3(MSH6):c.1537A>G (p.Ile513Val)

SNV
Germline

Chr2:47799520

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA067819

rs_746897461

5 SubmittersRCV000221108 RCV000550953 RCV003469083 RCV003998570

NM_000179.3(MSH6):c.1656T>A (p.His552Gln)

SNV
Germline

Chr2:47799639

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA067967

rs_745937181

6 SubmittersRCV000215555 RCV000463760 RCV001753682 RCV003998606

NM_000179.3(MSH6):c.1870G>A (p.Gly624Ser)

SNV
Germline

Chr2:47799853

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome 5
Condition: not provided
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10578081

rs_868760377

11 SubmittersRCV000219912 RCV000233003 RCV000484834 RCV000662524 RCV000657004 RCV003469017 RCV003997865

NM_000179.3(MSH6):c.1871G>T (p.Gly624Val)

SNV
Germline

Chr2:47799854

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
not specified
Lynch syndrome
MSH6-related disorder
Endometrial carcinoma
Mismatch repair cancer syndrome 3
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA068227

rs_763606858

8 SubmittersRCV000217487 RCV000464191 RCV000480702 RCV001293521 RCV003998588 RCV004739620 RCV005025364

NM_000179.3(MSH6):c.1957G>A (p.Val653Met)

SNV
Germline

Chr2:47799940

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Mismatch repair cancer syndrome 3

Criteria Provided
Conflicting Classifications

CA10578088

rs_768095444

6 SubmittersRCV000222892 RCV000478131 RCV000629954 RCV003998550 RCV005365166

NM_000179.3(MSH6):c.1957G>C (p.Val653Leu)

SNV
Germline

Chr2:47799940

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA068319

rs_768095444

3 SubmittersRCV000223386 RCV000707381 RCV003997846

NM_000179.3(MSH6):c.2032G>C (p.Glu678Gln)

SNV
Germline

Chr2:47800015

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA068389

rs_751778243

7 SubmittersRCV000213514 RCV000529803 RCV000985829 RCV003468992 RCV003997791

NM_000179.3(MSH6):c.2137G>A (p.Asp713Asn)

SNV
Germline

Chr2:47800120

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10578093

rs_876660123

6 SubmittersRCV000221120 RCV000525574 RCV000997142 RCV003462507 RCV003998019

NM_000179.3(MSH6):c.2258C>G (p.Ser753Cys)

SNV
Germline

Chr2:47800241

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA10578102

rs_876660934

9 SubmittersRCV000219984 RCV000473229 RCV000985831 RCV003998608 RCV003463605

NM_000179.3(MSH6):c.2331G>A (p.Trp777Ter)

SNV
Germline

Chr2:47800314

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA10578104

rs_876660037

2 SubmittersRCV000214405 RCV003454645

NM_000179.3(MSH6):c.2347T>A (p.Cys783Ser)

SNV
Germline

Chr2:47800330

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Condition: not provided
Lynch syndrome 5
Endometrial carcinoma
MSH6-related disorder

Criteria Provided
Conflicting Classifications

CA068851

rs_373721483

11 SubmittersRCV000222377 RCV000465704 RCV000708874 RCV001800572 RCV001789766 RCV003462514 RCV004541356

NM_000179.3(MSH6):c.2372G>A (p.Arg791His)

SNV
Germline

Chr2:47800355

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA068883

rs_755587950

6 SubmittersRCV000219569 RCV000470330 RCV002282050 RCV003997769 RCV004589913

NM_000179.3(MSH6):c.2501G>A (p.Ser834Asn)

SNV
Germline

Chr2:47800484

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
not specified
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA069123

rs_752544046

7 SubmittersRCV000217167 RCV000461932 RCV000985833 RCV002247652 RCV003462469 RCV003997908

NM_000179.3(MSH6):c.2651C>G (p.Ser884Cys)

SNV
Germline

Chr2:47800634

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10578110

rs_561217424

5 SubmittersRCV000218914 RCV000694383 RCV003462448 RCV003997863

NM_000179.3(MSH6):c.2668G>T (p.Val890Phe)

SNV
Germline

Chr2:47800651

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary nonpolyposis colorectal neoplasms
Mismatch repair cancer syndrome 3
Endometrial carcinoma
Lynch syndrome 5
Condition: not provided
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA10578112

rs_786202628

10 SubmittersRCV000222312 RCV000507745 RCV000818639 RCV002478792 RCV002508928 RCV004806224 RCV003462456

NM_000179.3(MSH6):c.2688A>G (p.Lys896=)

SNV
Germline

Chr2:47800671

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA10578114

rs_876659173

6 SubmittersRCV000215937 RCV000431126 RCV001442559 RCV003477730 RCV005420805

NM_000179.3(MSH6):c.2770A>T (p.Thr924Ser)

SNV
Germline

Chr2:47800753

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA069606

rs_758873844

7 SubmittersRCV000218606 RCV000486781 RCV000629928 RCV003468985 RCV004806217

NM_000179.3(MSH6):c.2857G>A (p.Glu953Lys)

SNV
Germline

Chr2:47800840

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
not specified
Malignant tumor of breast
Lynch syndrome 5
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA069715

rs_753034685

10 SubmittersRCV000213285 RCV000485366 RCV000555735 RCV000781579 RCV001355880 RCV003335237 RCV003462414 RCV003997779

NM_000179.3(MSH6):c.2934G>A (p.Gln978=)

SNV
Germline

Chr2:47800917

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Condition: not provided
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA069835

rs_751780309

7 SubmittersRCV000221858 RCV000630362 RCV000586433 RCV004998487 RCV005420856

NM_000179.3(MSH6):c.2963G>T (p.Arg988Leu)

SNV
Germline

Chr2:47800946

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome
Endometrial carcinoma
Endometrial carcinoma
Lynch syndrome 5
Mismatch repair cancer syndrome 3

Criteria Provided
Conflicting Classifications

CA069886

rs_115386788

10 SubmittersRCV000223636 RCV000465720 RCV000589846 RCV000708883 RCV003462404 RCV005025355

NM_000179.3(MSH6):c.2974G>A (p.Glu992Lys)

SNV
Germline

Chr2:47800957

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA069899

rs_774755404

7 SubmittersRCV000222273 RCV000478635 RCV000464929 RCV003469091 RCV003998590

NM_000179.3(MSH6):c.2975A>G (p.Glu992Gly)

SNV
Germline

Chr2:47800958

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10578124

rs_876660688

6 SubmittersRCV000219717 RCV000792117 RCV003463593 RCV003998583

NM_000179.3(MSH6):c.2983G>A (p.Glu995Lys)

SNV
Germline

Chr2:47800966

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Lynch syndrome 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10578125

rs_63750258

6 SubmittersRCV000218455 RCV000467310 RCV004567625 RCV005055092 RCV004998477

NM_000179.3(MSH6):c.2986T>C (p.Leu996=)

SNV
Germline

Chr2:47800969

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA10578126

rs_876658605

7 SubmittersRCV000215558 RCV000535154 RCV000606373 RCV005425823

NM_000179.3(MSH6):c.3079G>C (p.Val1027Leu)

SNV
Germline

Chr2:47801062

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Carcinoma of colon
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10578129

rs_876658397

8 SubmittersRCV000216842 RCV000227272 RCV000503628 RCV001080207 RCV003330587 RCV003997803

NM_000179.3(MSH6):c.3215G>A (p.Gly1072Asp)

SNV
Germline

Chr2:47803462

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
not specified
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10578133

rs_781243845

7 SubmittersRCV000215059 RCV000814199 RCV001142304 RCV002267969 RCV003469094 RCV003998595

NM_000179.3(MSH6):c.3257C>G (p.Pro1086Arg)

SNV
Germline

Chr2:47803504

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA070524

rs_780345806

4 SubmittersRCV000223078 RCV000699366 RCV003997868

NM_000179.3(MSH6):c.3313G>A (p.Gly1105Arg)

SNV
Germline

Chr2:47803560

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome
Lynch syndrome 5
Endometrial carcinoma
Mismatch repair cancer syndrome 3

Criteria Provided
Conflicting Classifications

CA070646

rs_755716475

8 SubmittersRCV000461508 RCV000220326 RCV003422122 RCV004806219 RCV005396707

NM_000179.3(MSH6):c.3417C>T (p.Gly1139=)

SNV
Germline

Chr2:47803664

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Endometrial carcinoma
Mismatch repair cancer syndrome 3
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA10578141

rs_876660283

5 SubmittersRCV000221461 RCV001363003 RCV003454648 RCV005396724

NM_000179.3(MSH6):c.3467T>C (p.Met1156Thr)

SNV
Germline

Chr2:47804938

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10578145

rs_876659549

7 SubmittersRCV000217088 RCV000482975 RCV000475398 RCV000662884 RCV003997945

NM_000179.3(MSH6):c.3565A>G (p.Thr1189Ala)

SNV
Germline

Chr2:47805626

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
not specified
Breast and/or ovarian cancer
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA071392

rs_753778809

8 SubmittersRCV000218856 RCV000482279 RCV000558107 RCV003493521 RCV001798716 RCV003997917 RCV003462471

NM_000179.3(MSH6):c.3742C>T (p.His1248Tyr)

SNV
Germline

Chr2:47806299

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome
Mismatch repair cancer syndrome 3
Endometrial carcinoma
Lynch syndrome 5
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA071942

rs_63750882

8 SubmittersRCV000220341 RCV000552496 RCV001775683 RCV003997889 RCV003224227 RCV004567552

NM_000179.3(MSH6):c.3801+1G>T

SNV
Germline

Chr2:47806359

Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Mismatch repair cancer syndrome 1
Lynch syndrome 5
Condition: not provided
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA10578160

rs_876660943

5 SubmittersRCV000217114 RCV000226322 RCV000763498 RCV003137829 RCV003454661

NM_000179.3(MSH6):c.3841G>C (p.Glu1281Gln)

SNV
Germline

Chr2:47806491

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Condition: not provided
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA10578163

rs_876659115

8 SubmittersRCV000216678 RCV000704640 RCV000708893 RCV001358640 RCV003469028

NM_000179.3(MSH6):c.3843G>A (p.Glu1281=)

SNV
Germline

Chr2:47806493

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA10578164

rs_864622384

6 SubmittersRCV000217278 RCV000422813 RCV000874582 RCV005420786

NM_000179.3(MSH6):c.3845C>A (p.Thr1282Asn)

SNV
Germline

Chr2:47806495

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Condition: not provided
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10578165

rs_876660361

8 SubmittersRCV000218648 RCV000462482 RCV000487307 RCV000589207 RCV003462524 RCV004804924

NM_000179.3(MSH6):c.3974A>T (p.Lys1325Met)

SNV
Germline

Chr2:47806624

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10578172

rs_876658189

8 SubmittersRCV000215262 RCV000697066 RCV000485930 RCV003462423 RCV003997805

NM_000179.3(MSH6):c.4001G>C (p.Arg1334Pro)

SNV
Germline

Chr2:47806651

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA10578173

rs_267608122

6 SubmittersRCV000219938 RCV000459481 RCV001810439 RCV003316228

NM_000249.4(MLH1):c.43G>A (p.Val15Met)

SNV
Germline

Chr3:36993590

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10578192

rs_876660301

4 SubmittersRCV000221816 RCV000479027 RCV000527289 RCV003998042

NM_000249.4(MLH1):c.109G>C (p.Glu37Gln)

SNV
Germline/somatic

Chr3:36993656

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Lung cancer

Criteria Provided
Conflicting Classifications

CA10578196

rs_63751012

4 SubmittersRCV000221562 RCV000555996 RCV000664318 RCV001808580

NM_000249.4(MLH1):c.808A>G (p.Thr270Ala)

SNV
Germline

Chr3:37017523

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colorectal neoplasms
not specified
Condition: not provided
Mismatch repair cancer syndrome 1
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome
MLH1-related disorder

Criteria Provided
Conflicting Classifications

CA038470

rs_371302926

12 SubmittersRCV000215834 RCV000412189 RCV000475873 RCV000505929 RCV000985258 RCV001535606 RCV003997811 RCV004748664

NM_000249.4(MLH1):c.848A>G (p.Tyr283Cys)

SNV
Germline

Chr3:37017563

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10578231

rs_201931669

9 SubmittersRCV000223129 RCV000551542 RCV000588139 RCV001145069 RCV001797684 RCV003998017

NM_000249.4(MLH1):c.887T>C (p.Leu296Ser)

SNV
Germline

Chr3:37020312

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA038943

rs_63750547

9 SubmittersRCV000222772 RCV000588023 RCV000527338 RCV000663054 RCV001824695 RCV003997993

NM_000249.4(MLH1):c.931A>G (p.Lys311Glu)

SNV
Germline

Chr3:37020356

Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colon cancer

Reviewed By Expert Panel

CA10578235

rs_876658657

7 SubmittersRCV000216819 RCV000473970 RCV000624023 RCV000586755 RCV003469008 RCV005237737

NM_000249.4(MLH1):c.1348G>T (p.Asp450Tyr)

SNV
Germline

Chr3:37025946

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
MLH1-related disorder
Lynch syndrome
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Mismatch repair cancer syndrome 1

Criteria Provided
Conflicting Classifications

CA028262

rs_752622244

8 SubmittersRCV000216865 RCV000230653 RCV001770179 RCV004748665 RCV003997928 RCV005396719

NM_000249.4(MLH1):c.1451A>G (p.Asp484Gly)

SNV
Germline

Chr3:37028825

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
not specified
Muir-Torré syndrome
Lynch syndrome
MLH1-related disorder
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Conflicting Classifications

CA10578251

rs_876659795

13 SubmittersRCV000213760 RCV000522050 RCV000560187 RCV003226256 RCV005361319 RCV003997978 RCV004748666 RCV005246839

NM_000249.4(MLH1):c.1698T>C (p.Tyr566=)

SNV
Germline

Chr3:37042298

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Conflicting Classifications

CA10578260

rs_876658915

9 SubmittersRCV000220192 RCV000287269 RCV000925925 RCV001668387 RCV004806222 RCV005365153

NM_000249.4(MLH1):c.1823C>T (p.Ala608Val)

SNV
Germline

Chr3:37047610

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Familial colorectal cancer
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA030974

rs_267607864

8 SubmittersRCV000221100 RCV000474071 RCV000484604 RCV001824697 RCV003462512 RCV003998029

NM_000249.4(MLH1):c.1874A>G (p.Tyr625Cys)

SNV
Germline

Chr3:37047661

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided

Criteria Provided
Conflicting Classifications

CA031145

rs_748851107

9 SubmittersRCV000223006 RCV001255521 RCV003462495 RCV003997970 RCV000698245 RCV001547023

NM_000249.4(MLH1):c.1924C>G (p.Leu642Val)

SNV
Germline

Chr3:37048544

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10578268

rs_577217817

8 SubmittersRCV000219171 RCV000797456 RCV003997957 RCV002222451 RCV004701290

NM_000249.4(MLH1):c.2107G>A (p.Glu703Lys)

SNV
Germline

Chr3:37050489

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA10578276

rs_747727493

4 SubmittersRCV000218150 RCV000708932 RCV001050471

NM_004168.4(SDHA):c.739A>G (p.Ile247Val)

SNV
Germline

Chr5:228302

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Mitochondrial complex II deficiency, nuclear type 1
Pheochromocytoma/paraganglioma syndrome 5
Pheochromocytoma/paraganglioma syndrome 5
Leigh syndrome
Mitochondrial complex II deficiency, nuclear type 1
Dilated cardiomyopathy 1GG
Pheochromocytoma/paraganglioma syndrome 5
Dilated cardiomyopathy 1GG
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3172957

rs_571292356

9 SubmittersRCV000214276 RCV000230633 RCV000663181 RCV000765826 RCV004567619 RCV003477750

NM_004168.4(SDHA):c.1973C>T (p.Pro658Leu)

SNV
Germline

Chr5:256398

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary pheochromocytoma-paraganglioma
Mitochondrial complex II deficiency, nuclear type 1
Leigh syndrome
Mitochondrial complex II deficiency, nuclear type 1
Pheochromocytoma/paraganglioma syndrome 5
Leigh syndrome
Mitochondrial complex II deficiency, nuclear type 1
Dilated cardiomyopathy 1GG
Pheochromocytoma/paraganglioma syndrome 5
Condition: not provided
not specified
Dilated cardiomyopathy 1GG
Neurodegeneration with ataxia and late-onset optic atrophy
Mitochondrial complex II deficiency, nuclear type 1
Dilated cardiomyopathy 1GG
Pheochromocytoma/paraganglioma syndrome 5

Criteria Provided
Conflicting Classifications

CA3173475

rs_377632619

8 SubmittersRCV000217918 RCV000333745 RCV000275247 RCV000388419 RCV000649461 RCV000765836 RCV001775682 RCV001818525 RCV004567550 RCV005031795

NM_000535.7(PMS2):c.2155C>T (p.Gln719Ter)

SNV
Germline

Chr7:5982843

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colon cancer
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA10578653

rs_876659480

6 SubmittersRCV000219006 RCV000482925 RCV001193969 RCV002515651 RCV003454638

NM_000535.7(PMS2):c.2137C>T (p.Gln713Ter)

SNV
Germline

Chr7:5982861

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA10578654

rs_876659900

5 SubmittersRCV000216032 RCV000760558 RCV001056896 RCV003454641

NM_000535.7(PMS2):c.1720C>G (p.Pro574Ala)

SNV
Germline

Chr7:5987045

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome
PMS2-related disorder

Criteria Provided
Conflicting Classifications

CA045370

rs_758018736

6 SubmittersRCV000220236 RCV000629788 RCV002229221 RCV003997849 RCV004742339

NM_000535.7(PMS2):c.1718C>A (p.Thr573Asn)

SNV
Germline

Chr7:5987047

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10578664

rs_876660076

6 SubmittersRCV000216954 RCV000473171 RCV003998011 RCV004772871

NM_000535.7(PMS2):c.1682A>C (p.Lys561Thr)

SNV
Germline

Chr7:5987083

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10578665

rs_876658481

4 SubmittersRCV000217300 RCV000539116 RCV001355968

NM_000535.7(PMS2):c.1586C>T (p.Ser529Leu)

SNV
Germline

Chr7:5987179

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 4
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10578672

rs_876658794

6 SubmittersRCV000217760 RCV000471239 RCV000486303 RCV004567535 RCV003997860

NM_000535.7(PMS2):c.1576G>A (p.Asp526Asn)

SNV
Germline

Chr7:5987189

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Mismatch repair cancer syndrome 1
Lynch syndrome 4
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10578673

rs_63750686

7 SubmittersRCV000217885 RCV000480867 RCV000630090 RCV000765956 RCV002271472 RCV003998027

NM_000535.7(PMS2):c.1465G>A (p.Glu489Lys)

SNV
Germline

Chr7:5987300

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome 4
Lynch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10578675

rs_876660060

7 SubmittersRCV000221906 RCV000629950 RCV000781759 RCV003462505 RCV003998009 RCV004777631

NM_000535.7(PMS2):c.1439G>C (p.Gly480Ala)

SNV
Germline

Chr7:5987326

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10578676

rs_373917897

7 SubmittersRCV000214480 RCV000233535 RCV000485778 RCV001532968 RCV003997862

NM_000535.7(PMS2):c.1354G>C (p.Gly452Arg)

SNV
Germline

Chr7:5987411

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 4
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA043129

rs_569947936

6 SubmittersRCV000214914 RCV000460028 RCV000481558 RCV000987831 RCV005361278

NM_000535.7(PMS2):c.1354G>A (p.Gly452Ser)

SNV
Germline

Chr7:5987411

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA043115

rs_569947936

8 SubmittersRCV000221391 RCV000521141 RCV000629994 RCV001731444 RCV003997861 RCV005425826

NM_000535.7(PMS2):c.1352G>A (p.Arg451Lys)

SNV
Germline

Chr7:5987413

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA10578679

rs_876660834

3 SubmittersRCV000218301 RCV000687861 RCV000987832

NM_000535.7(PMS2):c.1116C>T (p.Val372=)

SNV
Germline

Chr7:5989828

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA10578685

rs_876659729

6 SubmittersRCV000471178 RCV000218338 RCV001775691 RCV005420820

NM_000535.7(PMS2):c.993C>T (p.Cys331=)

SNV
Germline/somatic

Chr7:5989951

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome
Condition: not provided
Breast and/or ovarian cancer
Mismatch repair cancer syndrome 4
Lynch syndrome 4
PMS2-related disorder
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA052862

rs_186577215

13 SubmittersRCV000229543 RCV000223117 RCV000613399 RCV000758631 RCV001722189 RCV003491979 RCV005396717 RCV003897493 RCV005425837

NM_000535.7(PMS2):c.851C>G (p.Ser284Ter)

SNV
Germline

Chr7:5995586

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA10578694

rs_587782898

4 SubmittersRCV000215676 RCV000227122 RCV000519203 RCV003454653

NM_000535.7(PMS2):c.825A>G (p.Gln275=)

SNV
Germline

Chr7:5995612

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Mismatch repair cancer syndrome 1
Lynch syndrome 4
Lynch syndrome 4
Gastric cancer
Lynch syndrome
Hereditary nonpolyposis colon cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA10578696

rs_876659736

12 SubmittersRCV000219153 RCV000479060 RCV000541550 RCV000763588 RCV001267893 RCV003165571 RCV003997969 RCV004525906

NM_000535.7(PMS2):c.705G>A (p.Gln235=)

SNV
Germline

Chr7:5999108

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA10578699

rs_876660872

3 SubmittersRCV000222528 RCV001854721 RCV002466474

NM_000535.7(PMS2):c.615G>T (p.Gln205His)

SNV
Germline

Chr7:5999198

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 4
Lynch syndrome
Lynch syndrome 4
Mismatch repair cancer syndrome 4

Criteria Provided
Conflicting Classifications

CA050625

rs_752499497

8 SubmittersRCV000214892 RCV000468010 RCV001284679 RCV004567573 RCV003997922 RCV005396718

NM_000535.7(PMS2):c.555C>T (p.Val185=)

SNV
Germline

Chr7:5999258

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA050341

rs_759078497

6 SubmittersRCV000231061 RCV000223202 RCV001722173 RCV003316196

NM_000535.7(PMS2):c.340C>T (p.Leu114Phe)

SNV
Germline

Chr7:6003703

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Condition: not provided
Lynch syndrome
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA049251

rs_757441871

8 SubmittersRCV000214977 RCV000537717 RCV001800570 RCV001552609 RCV003998023 RCV003469064

NM_000535.7(PMS2):c.251-2A>C

SNV
Germline

Chr7:6003794

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Polyp of colon
Hereditary nonpolyposis colon cancer
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10578724

rs_587779340

11 SubmittersRCV000219075 RCV000735964 RCV001249235 RCV001530037 RCV001854704 RCV003454656 RCV004806244

NM_000535.7(PMS2):c.164-4C>A

SNV
Germline

Chr7:6004062

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Carcinoma of colon
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10578727

rs_876658444

4 SubmittersRCV000220376 RCV000630356 RCV001358033 RCV003997813

NM_000535.7(PMS2):c.30A>G (p.Glu10=)

SNV
Germline/somatic

Chr7:6006025

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA10578733

rs_876660608

4 SubmittersRCV000215922 RCV000758633 RCV001483904 RCV005420853

NM_000535.7(PMS2):c.2T>G (p.Met1Arg)

SNV
Germline

Chr7:6009018

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA10578738

rs_587780059

6 SubmittersRCV000219633 RCV000458145 RCV001782709 RCV003454637

NM_000535.7(PMS2):c.-1C>A

SNV
Germline

Chr7:6009020

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA046177

rs_369681753

5 SubmittersRCV000218387 RCV001569697 RCV003997800

NM_015272.5(RPGRIP1L):c.1736A>G (p.Tyr579Cys)

SNV
Germline

Chr16:53652951

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis 8
Joubert syndrome 7
Meckel syndrome, type 5
Joubert syndrome
Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3
Meckel-Gruber syndrome
Joubert syndrome
Inborn genetic diseases
RPGRIP1L-related disorder

Criteria Provided
Conflicting Classifications

CA8057711

rs_148230131

8 SubmittersRCV000224936 RCV000272739 RCV000321854 RCV000364967 RCV001280344 RCV002500747 RCV001854774 RCV002519757 RCV004529383

NM_000251.3(MSH2):c.10C>A (p.Gln4Lys)

SNV
Germline

Chr2:47403201

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10581987

rs_878853797

9 SubmittersRCV000227770 RCV000563870 RCV000480195 RCV002465579 RCV003469135 RCV003998750

NM_000251.3(MSH2):c.79C>A (p.Pro27Thr)

SNV
Germline

Chr2:47403270

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10581989

rs_878853826

7 SubmittersRCV000226454 RCV000664273 RCV001658053 RCV002282071 RCV003998766

NM_000251.3(MSH2):c.121G>T (p.Asp41Tyr)

SNV
Germline

Chr2:47403312

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA10581991

rs_878853799

5 SubmittersRCV000230826 RCV000575441 RCV003998753 RCV004567715

NM_000251.3(MSH2):c.211+9C>A

SNV
Germline

Chr2:47403411

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome 1
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA034025

rs_2303426

5 SubmittersRCV000230066 RCV000580355 RCV000614752 RCV005246884 RCV005361390

NM_000251.3(MSH2):c.232G>A (p.Val78Ile)

SNV
Germline

Chr2:47408421

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Lynch syndrome
not specified
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA035416

rs_772779997

8 SubmittersRCV000229561 RCV000235910 RCV000491448 RCV003150133 RCV003998761 RCV005238755 RCV005420883

NM_000251.3(MSH2):c.340G>T (p.Glu114Ter)

SNV
Germline

Chr2:47408529

Pathogenic/Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10581993

rs_878853815

5 SubmittersRCV000228392 RCV001020232 RCV000985808 RCV001034685 RCV003454701

NM_000251.3(MSH2):c.755A>G (p.Gln252Arg)

SNV
Germline

Chr2:47412523

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1
Lynch syndrome
not specified

Criteria Provided
Conflicting Classifications

CA040278

rs_370906735

10 SubmittersRCV000230625 RCV000564902 RCV001557291 RCV003463649 RCV003998764 RCV005230134

NM_000251.3(MSH2):c.764G>A (p.Ser255Asn)

SNV
Germline

Chr2:47412532

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
not specified
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA040340

rs_763184168

6 SubmittersRCV000234549 RCV000519279 RCV000766744 RCV001026663 RCV003998765

NM_000251.3(MSH2):c.789T>G (p.Asn263Lys)

SNV
Germline

Chr2:47412557

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10582001

rs_878853823

5 SubmittersRCV000231079 RCV001026925 RCV001193895 RCV003128606 RCV004806259

NM_000251.3(MSH2):c.790C>T (p.Gln264Ter)

SNV
Germline

Chr2:47412558

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10582002

rs_878853824

5 SubmittersRCV000233889 RCV000235710 RCV000563208 RCV003454702

NM_000251.3(MSH2):c.843A>T (p.Ser281=)

SNV
Germline

Chr2:47414319

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
not specified
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Condition: not provided
Lynch syndrome
MSH2-related disorder
Lynch syndrome 1
Muir-Torré syndrome
Mismatch repair cancer syndrome 2

Criteria Provided
Conflicting Classifications

CA040882

rs_150197753

14 SubmittersRCV000232025 RCV000422592 RCV000573521 RCV000986654 RCV001705241 RCV003998767 RCV004541371 RCV005396746

NM_000251.3(MSH2):c.1077-7A>G

SNV
Germline

Chr2:47429735

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
MSH2-related disorder
Muir-Torré syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA026935

rs_370807334

11 SubmittersRCV000232807 RCV000417988 RCV003998749 RCV001705240 RCV002258835 RCV004541370 RCV005361388 RCV005246879

NM_000251.3(MSH2):c.1130A>G (p.Gln377Arg)

SNV
Germline

Chr2:47429795

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary cancer
Lynch syndrome
not specified

Criteria Provided
Conflicting Classifications

CA027052

rs_776174711

11 SubmittersRCV000229489 RCV000662583 RCV001017396 RCV000479748 RCV003491996 RCV003998751 RCV001193852

NM_000251.3(MSH2):c.1171G>A (p.Ala391Thr)

SNV
Germline

Chr2:47429836

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10582008

rs_878853798

10 SubmittersRCV000227304 RCV000662565 RCV000780444 RCV000566323 RCV001589170 RCV003998752

NM_000251.3(MSH2):c.1225C>G (p.Gln409Glu)

SNV
Germline

Chr2:47429890

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10582010

rs_151244108

5 SubmittersRCV001319460 RCV001185296 RCV003469136 RCV004998509

NM_000251.3(MSH2):c.1301C>T (p.Ala434Val)

SNV
Germline

Chr2:47445572

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA027829

rs_768070717

7 SubmittersRCV000232170 RCV000589179 RCV000573477 RCV003998754

NM_000251.3(MSH2):c.1378A>G (p.Met460Val)

SNV
Germline

Chr2:47445649

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1
Breast and/or ovarian cancer
Lynch syndrome
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA028135

rs_575905950

10 SubmittersRCV000225970 RCV000573569 RCV000985795 RCV003338475 RCV003150132 RCV003998755 RCV005361389

NM_000251.3(MSH2):c.1387-5T>C

SNV
Germline

Chr2:47463026

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA10582013

rs_757458333

6 SubmittersRCV000229877 RCV000574158 RCV000604134 RCV005246881

NM_000251.3(MSH2):c.1937A>C (p.Asp646Ala)

SNV
Germline

Chr2:47475202

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA032095

rs_41295290

8 SubmittersRCV000228698 RCV000483596 RCV000575069 RCV003463648 RCV003998757

NM_000251.3(MSH2):c.1951A>G (p.Ile651Val)

SNV
Germline

Chr2:47475216

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10582019

rs_878853806

4 SubmittersRCV000226382 RCV001013729 RCV003998759

NM_000251.3(MSH2):c.2242G>C (p.Asp748His)

SNV
Germline

Chr2:47478303

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA10582023

rs_267608007

3 SubmittersRCV001366376 RCV002417987 RCV003454700

NM_000251.3(MSH2):c.2518G>A (p.Val840Ile)

SNV
Germline

Chr2:47480755

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA10582027

rs_878853812

3 SubmittersRCV000230025 RCV002429093 RCV005246887

NM_000251.3(MSH2):c.2697G>T (p.Met899Ile)

SNV
Germline

Chr2:47482841

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Breast carcinoma
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10582028

rs_878853813

5 SubmittersRCV000233718 RCV001016339 RCV001262889 RCV003469138 RCV003998762

NM_000251.3(MSH2):c.2699C>G (p.Ser900Ter)

SNV
Germline

Chr2:47482843

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Muir-Torré syndrome
Mismatch repair cancer syndrome 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10582029

rs_878853814

3 SubmittersRCV001305492 RCV005025381 RCV005365179

NM_000251.3(MSH2):c.2777T>A (p.Ile926Asn)

SNV
Germline

Chr2:47482921

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
not specified

Criteria Provided
Conflicting Classifications

CA037530

rs_199747712

11 SubmittersRCV000231382 RCV000485086 RCV000565937 RCV000663160 RCV000781561

NM_000251.3(MSH2):c.2801C>A (p.Thr934Lys)

SNV
Germline

Chr2:47482945

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA037620

rs_587779969

11 SubmittersRCV000234169 RCV000235791 RCV001353614 RCV000767184 RCV000564878 RCV000662845

NM_000179.3(MSH6):c.98G>C (p.Arg33Pro)

SNV
Germline

Chr2:47783331

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Endometrial carcinoma
MSH6-related disorder
Lynch syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA10582031

rs_878853751

8 SubmittersRCV000230339 RCV000487300 RCV000575454 RCV003463645 RCV004532835 RCV003998735 RCV004591082

NM_000179.3(MSH6):c.117G>A (p.Gly39=)

SNV
Germline

Chr2:47783350

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Lynch syndrome 5
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA067275

rs_756673077

9 SubmittersRCV000232522 RCV000491059 RCV000611965 RCV005001023 RCV005420868 RCV003998707

NM_000179.3(MSH6):c.146C>T (p.Ala49Val)

SNV
Germline

Chr2:47783379

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome
Condition: not provided
Endometrial carcinoma
Lynch syndrome 5
Mismatch repair cancer syndrome 3

Criteria Provided
Conflicting Classifications

CA067716

rs_775498550

8 SubmittersRCV000233115 RCV000773125 RCV003320618 RCV003998708 RCV004696887 RCV005396740

NM_000179.3(MSH6):c.251C>T (p.Ala84Val)

SNV
Germline

Chr2:47783484

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome
Lynch syndrome 5
Malignant tumor of breast

Criteria Provided
Conflicting Classifications

CA10582035

rs_878853717

8 SubmittersRCV000229669 RCV001572461 RCV000491394 RCV003998719 RCV005600851 RCV001354734

NM_000179.3(MSH6):c.628-8C>T

SNV
Germline

Chr2:47798603

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Carcinoma of colon
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA073263

rs_767991179

8 SubmittersRCV000228163 RCV001357663 RCV001722209 RCV001184776 RCV005425877

NM_000179.3(MSH6):c.818G>T (p.Gly273Val)

SNV
Germline

Chr2:47798801

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary cancer
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA073459

rs_769610487

10 SubmittersRCV000232347 RCV000561246 RCV000582421 RCV003233509 RCV003491994 RCV003463644 RCV003998733

NM_000179.3(MSH6):c.1167C>T (p.Pro389=)

SNV
Germline

Chr2:47799150

Conflicting classifications of pathogenicity

Lynch syndrome 5
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Condition: not provided
MSH6-related disorder
Endometrial carcinoma
Lynch syndrome 5
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA1649445

rs_1042819

12 SubmittersRCV000234680 RCV000445727 RCV001082552 RCV001290648 RCV000759841 RCV004532832 RCV005361378 RCV003998706

NM_000179.3(MSH6):c.1524G>C (p.Val508=)

SNV
Germline

Chr2:47799507

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome 5
Lynch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10582051

rs_878853705

8 SubmittersRCV000227913 RCV000569066 RCV000600512 RCV005420870 RCV003998709 RCV005001024

NM_000179.3(MSH6):c.1795G>C (p.Gly599Arg)

SNV
Germline

Chr2:47799778

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA068155

rs_756043669

7 SubmittersRCV000228803 RCV000506097 RCV001013122 RCV004567709 RCV004806254

NM_000179.3(MSH6):c.1937A>G (p.Lys646Arg)

SNV
Germline

Chr2:47799920

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Malignant tumor of breast
Breast and/or ovarian cancer
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA068286

rs_201096652

12 SubmittersRCV000229693 RCV000482874 RCV000491214 RCV001192456 RCV001356893 RCV001798729 RCV003469131 RCV003998712

NM_000179.3(MSH6):c.2023G>A (p.Glu675Lys)

SNV
Germline

Chr2:47800006

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10582057

rs_878853713

5 SubmittersRCV000231201 RCV000772336 RCV003463637 RCV003998714

NM_000179.3(MSH6):c.2107A>G (p.Met703Val)

SNV
Germline

Chr2:47800090

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Condition: not provided
Endometrial carcinoma
Hereditary cancer
Lynch syndrome
Endometrial carcinoma
Lynch syndrome 5
Mismatch repair cancer syndrome 3

Criteria Provided
Conflicting Classifications

CA068470

rs_751867550

12 SubmittersRCV000227011 RCV000580465 RCV000662419 RCV000483631 RCV003469132 RCV004701307 RCV003998715 RCV005396742

NM_000179.3(MSH6):c.2315G>A (p.Arg772Gln)

SNV
Germline/somatic

Chr2:47800298

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome
Hereditary cancer-predisposing syndrome
Endometrial carcinoma
Mismatch repair cancer syndrome 3
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA068814

rs_63750725

9 SubmittersRCV000234432 RCV000418671 RCV000758668 RCV001015160 RCV004567710 RCV005361380 RCV005420872

NM_000179.3(MSH6):c.2479A>G (p.Asn827Asp)

SNV
Germline

Chr2:47800462

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA10582063

rs_878853716

8 SubmittersRCV000231716 RCV000483224 RCV000490886 RCV000986722 RCV003998718 RCV004567711

NM_000179.3(MSH6):c.2569G>A (p.Asp857Asn)

SNV
Germline

Chr2:47800552

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA069199

rs_368437140

4 SubmittersRCV000568833 RCV001297702 RCV003998720

NM_000179.3(MSH6):c.2680C>T (p.Gln894Ter)

SNV
Germline

Chr2:47800663

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA10582065

rs_878853718

3 SubmittersRCV000232801 RCV002433946 RCV003454689

NM_000179.3(MSH6):c.2830A>G (p.Ile944Val)

SNV
Germline

Chr2:47800813

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Endometrial carcinoma
Lynch syndrome
MSH6-related disorder
Endometrial carcinoma
Mismatch repair cancer syndrome 3
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA10582071

rs_878853723

9 SubmittersRCV000231932 RCV000571874 RCV000581651 RCV001589169 RCV003463639 RCV003998722 RCV004529388 RCV005396743

NM_000179.3(MSH6):c.2962C>T (p.Arg988Cys)

SNV
Germline

Chr2:47800945

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Endometrial carcinoma
Lynch syndrome
Endometrial carcinoma
Lynch syndrome 5
Mismatch repair cancer syndrome 3

Criteria Provided
Conflicting Classifications

CA069873

rs_61753795

10 SubmittersRCV000232002 RCV000483401 RCV000571603 RCV002265702 RCV003463641 RCV003998724 RCV005396744

NM_000179.3(MSH6):c.3070C>T (p.Arg1024Trp)

SNV
Germline

Chr2:47801053

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Endometrial carcinoma
Lynch syndrome 5
Mismatch repair cancer syndrome 3
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA10582076

rs_370505117

10 SubmittersRCV000227649 RCV000491202 RCV000985838 RCV002494619 RCV003998725 RCV004567712

NM_000179.3(MSH6):c.3220A>T (p.Met1074Leu)

SNV
Germline

Chr2:47803467

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 5
Hereditary cancer-predisposing syndrome
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10582083

rs_730881804

9 SubmittersRCV000225977 RCV000480996 RCV000662750 RCV000584577 RCV004567713 RCV004806255

NM_000179.3(MSH6):c.3350G>T (p.Cys1117Phe)

SNV
Germline

Chr2:47803597

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA070699

rs_773245315

7 SubmittersRCV000230242 RCV000570386 RCV000487138 RCV003998729 RCV005425874

NM_000179.3(MSH6):c.3477C>G (p.Tyr1159Ter)

SNV
Germline

Chr2:47804948

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome
Papillary carcinoma of the corpus uteri
Lynch syndrome 5
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10582086

rs_398123231

9 SubmittersRCV000228304 RCV000580568 RCV000657748 RCV000781603 RCV003137833 RCV003454692 RCV004668863

NM_000179.3(MSH6):c.3772C>G (p.Gln1258Glu)

SNV
Germline

Chr2:47806329

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA071996

rs_63750554

9 SubmittersRCV000227470 RCV000479785 RCV000491197 RCV000766490 RCV003998730 RCV004567714

NM_000179.3(MSH6):c.3988C>T (p.Leu1330=)

SNV
Germline

Chr2:47806638

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome
not specified
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA072445

rs_768944975

7 SubmittersRCV000229058 RCV000478567 RCV000574677 RCV004804946 RCV005230132 RCV005425876

NM_000179.3(MSH6):c.4002-2A>G

SNV
Germline

Chr2:47806777

Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA10582095

rs_878853745

3 SubmittersRCV000231436 RCV000772337 RCV003454695

NM_000249.4(MLH1):c.226G>A (p.Val76Ile)

SNV
Germline

Chr3:37000973

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Malignant tumor of breast
Breast and/or ovarian cancer
not specified
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10582156

rs_878853788

12 SubmittersRCV000233829 RCV000485354 RCV000568460 RCV000765730 RCV001358259 RCV001798730 RCV001800589 RCV003463647 RCV003998742

NM_000249.4(MLH1):c.318C>T (p.Ser106=)

SNV
Germline

Chr3:37004412

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA10582157

rs_63750297

6 SubmittersRCV000561338 RCV001469190 RCV003998743 RCV005246874 RCV005361385

NM_000249.4(MLH1):c.928A>G (p.Thr310Ala)

SNV
Germline

Chr3:37020353

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Mismatch repair cancer syndrome 1
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA039074

rs_779581111

11 SubmittersRCV000234748 RCV000581030 RCV000759816 RCV000780417 RCV001147025 RCV003998746 RCV005025380

NM_000249.4(MLH1):c.1063C>T (p.Pro355Ser)

SNV
Germline

Chr3:37025661

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA027044

rs_756347993

7 SubmittersRCV000230159 RCV001009798 RCV001420854 RCV003233510 RCV003463646 RCV003998736

NM_001378615.1(CC2D2A):c.2326G>A (p.Gly776Arg)

SNV
Germline

Chr4:15550968

Conflicting classifications of pathogenicity

Condition: not provided
COACH syndrome 1
Meckel syndrome, type 6
Joubert syndrome 9
Joubert syndrome
Meckel-Gruber syndrome
CC2D2A-related disorder
Meckel syndrome, type 6
Joubert syndrome 9
Retinal dystrophy
Optic atrophy

Criteria Provided
Conflicting Classifications

CA2863889

rs_200764366

7 SubmittersRCV000726192 RCV000765757 RCV001084783 RCV001150183 RCV001150184 RCV001150185 RCV004816440 RCV004816441

NM_004168.4(SDHA):c.441C>T (p.Pro147=)

SNV
Germline

Chr5:225547

Conflicting classifications of pathogenicity

Mitochondrial complex II deficiency, nuclear type 1
Pheochromocytoma/paraganglioma syndrome 5
Hereditary pheochromocytoma-paraganglioma
Mitochondrial complex II deficiency, nuclear type 1
Leigh syndrome
Hereditary cancer-predisposing syndrome
Pheochromocytoma/paraganglioma syndrome 5

Criteria Provided
Conflicting Classifications

CA3172819

rs_201453889

4 SubmittersRCV000233726 RCV000274933 RCV000389166 RCV000332396 RCV000564203 RCV005420912

NM_004168.4(SDHA):c.442G>A (p.Ala148Thr)

SNV
Germline

Chr5:225548

Conflicting classifications of pathogenicity

Mitochondrial complex II deficiency, nuclear type 1
Pheochromocytoma/paraganglioma syndrome 5
Leigh syndrome
Hereditary pheochromocytoma-paraganglioma
Mitochondrial complex II deficiency, nuclear type 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Dilated cardiomyopathy 1GG
Neurodegeneration with ataxia and late-onset optic atrophy
Mitochondrial complex II deficiency, nuclear type 1
Dilated cardiomyopathy 1GG
Pheochromocytoma/paraganglioma syndrome 5
not specified

Criteria Provided
Conflicting Classifications

CA3172820

rs_375576259

8 SubmittersRCV000228365 RCV000287726 RCV000345164 RCV000383376 RCV000572868 RCV003477820 RCV003475076 RCV005031816 RCV005055778

NM_004168.4(SDHA):c.777C>T (p.Tyr259=)

SNV
Germline

Chr5:230882

Conflicting classifications of pathogenicity

Mitochondrial complex II deficiency, nuclear type 1
Pheochromocytoma/paraganglioma syndrome 5
Hereditary cancer-predisposing syndrome
Leigh syndrome
Mitochondrial complex II deficiency, nuclear type 1
Hereditary pheochromocytoma-paraganglioma
Condition: not provided
SDHA-related disorder
Pheochromocytoma/paraganglioma syndrome 5

Criteria Provided
Conflicting Classifications

CA3172993

rs_140243793

7 SubmittersRCV000234552 RCV000567901 RCV001153420 RCV001153422 RCV001153421 RCV003430784 RCV004541406 RCV005420919

NM_004168.4(SDHA):c.1661G>A (p.Arg554Gln)

SNV
Germline

Chr5:251101

Conflicting classifications of pathogenicity

Mitochondrial complex II deficiency, nuclear type 1
Pheochromocytoma/paraganglioma syndrome 5
Hereditary cancer-predisposing syndrome
Pheochromocytoma/paraganglioma syndrome 5
Hereditary pheochromocytoma-paraganglioma
Mitochondrial complex II deficiency, nuclear type 1
Leigh syndrome
Condition: not provided
not specified
SDHA-related disorder

Criteria Provided
Conflicting Classifications

CA3173313

rs_376391115

9 SubmittersRCV000226282 RCV000565244 RCV000663186 RCV001153644 RCV001153645 RCV001153646 RCV002253311 RCV002267990 RCV004541404

NM_004168.4(SDHA):c.1979C>G (p.Ala660Gly)

SNV
Germline

Chr5:256404

Conflicting classifications of pathogenicity

Mitochondrial complex II deficiency, nuclear type 1
Pheochromocytoma/paraganglioma syndrome 5
Pheochromocytoma/paraganglioma syndrome 5
Hereditary cancer-predisposing syndrome
Mitochondrial complex II deficiency, nuclear type 1
Condition: not provided
Leigh syndrome
Hereditary pheochromocytoma-paraganglioma
SDHA-related disorder

Criteria Provided
Conflicting Classifications

CA3173479

rs_191412461

14 SubmittersRCV000227636 RCV000409751 RCV000563763 RCV001158018 RCV000998351 RCV001158017 RCV001158019 RCV004529398

NM_000535.7(PMS2):c.2445+1G>C

SNV
Germline

Chr7:5977587

Pathogenic/Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colon cancer
Malignant tumor of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA10582495

rs_876661113

6 SubmittersRCV000234016 RCV001193217 RCV001354824 RCV002255326 RCV002291604 RCV003454706

NM_000535.7(PMS2):c.1454C>T (p.Thr485Met)

SNV
Germline

Chr7:5987311

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome
Lynch syndrome 4
not specified

Criteria Provided
Conflicting Classifications

CA043685

rs_1805323

10 SubmittersRCV000227437 RCV000570329 RCV000479471 RCV003998786 RCV002288911 RCV005434726

NM_000535.7(PMS2):c.1233A>C (p.Glu411Asp)

SNV
Germline

Chr7:5987532

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 4
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10582513

rs_587780040

6 SubmittersRCV000227364 RCV000567547 RCV000759913 RCV003463655 RCV004806260

NM_000535.7(PMS2):c.1145-10G>A

SNV
Germline

Chr7:5987630

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast and/or ovarian cancer
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA042176

rs_533551639

10 SubmittersRCV000229136 RCV000426484 RCV000580673 RCV001354104 RCV003150134 RCV005420885

NM_000535.7(PMS2):c.1099G>A (p.Val367Ile)

SNV
Germline

Chr7:5989845

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 4
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA041931

rs_746889239

8 SubmittersRCV000226146 RCV000481764 RCV000569779 RCV001162267 RCV003479070 RCV003998785

NM_000535.7(PMS2):c.917T>A (p.Val306Glu)

SNV
Germline

Chr7:5992044

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10582517

rs_786201878

6 SubmittersRCV000232471 RCV000565783 RCV000853300 RCV001174830 RCV001284035

NM_000535.7(PMS2):c.903+2T>C

SNV
Germline

Chr7:5995532

Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10582518

rs_878854059

5 SubmittersRCV000230352 RCV002372260 RCV003454707 RCV005051767

NM_000535.7(PMS2):c.903G>A (p.Lys301=)

SNV
Germline

Chr7:5995534

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Condition: not provided
Lynch syndrome 4
Hereditary nonpolyposis colon cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA052331

rs_267608153

7 SubmittersRCV000228489 RCV000573516 RCV000614513 RCV001762520 RCV003454708 RCV005238758

NM_000535.7(PMS2):c.663C>T (p.Pro221=)

SNV
Germline

Chr7:5999150

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10582521

rs_878854057

3 SubmittersRCV001413885 RCV005420894 RCV005396751

NM_000535.7(PMS2):c.662C>T (p.Pro221Leu)

SNV
Germline

Chr7:5999151

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Mismatch repair cancer syndrome 1
Lynch syndrome 4
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10582522

rs_878854056

5 SubmittersRCV000226233 RCV000772142 RCV001535628 RCV003998795

NM_000535.7(PMS2):c.386C>T (p.Ala129Val)

SNV
Germline

Chr7:6002604

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Mismatch repair cancer syndrome 4
Lynch syndrome 4
Lynch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA049693

rs_752284380

9 SubmittersRCV000233053 RCV000566584 RCV000662749 RCV002503891 RCV003998793 RCV005625464

NM_000535.7(PMS2):c.353+6A>G

SNV
Germline

Chr7:6003684

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 4
not specified
Hereditary cancer-predisposing syndrome
Mismatch repair cancer syndrome 1
Breast and/or ovarian cancer
Lynch syndrome
Lynch syndrome 4
Mismatch repair cancer syndrome 4

Criteria Provided
Conflicting Classifications

CA049404

rs_376449640

15 SubmittersRCV000226224 RCV000586664 RCV000663107 RCV000507750 RCV000581327 RCV001535734 RCV001798733 RCV003998791 RCV005361392

NM_000535.7(PMS2):c.88C>A (p.Gln30Lys)

SNV
Germline

Chr7:6005967

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome
Lynch syndrome 4
PMS2-related disorder

Criteria Provided
Conflicting Classifications

CA052131

rs_141577476

9 SubmittersRCV000227509 RCV001018478 RCV001550352 RCV003998797 RCV004567719 RCV004742343

NM_000535.7(PMS2):c.24-3T>C

SNV
Germline

Chr7:6006034

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA048185

rs_749485884

6 SubmittersRCV000228314 RCV000828153 RCV000775371 RCV005420891

NM_024426.6(WT1):c.662-6C>A

SNV
Germline

Chr11:32428625

Conflicting classifications of pathogenicity

Drash syndrome
Frasier syndrome
Wilms tumor 1
11p partial monosomy syndrome
not specified
Drash syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
WT1-related disorder

Criteria Provided
Conflicting Classifications

CA065416

rs_372418954

13 SubmittersRCV000227539 RCV000455551 RCV000988517 RCV001567721 RCV002256171 RCV004739636

NM_024426.6(WT1):c.375C>T (p.Gly125=)

SNV
Germline

Chr11:32434986

Conflicting classifications of pathogenicity

Condition: not provided
Meacham syndrome
Nephrotic syndrome, type 4
Wilms tumor 1
Drash syndrome
Frasier syndrome
Wilms tumor 1
11p partial monosomy syndrome
Hereditary cancer-predisposing syndrome
Inborn genetic diseases
WT1-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA064860

rs_776209354

7 SubmittersRCV000229394 RCV000338855 RCV000402704 RCV000373715 RCV001081658 RCV002256170 RCV004965349 RCV004547616 RCV005434744

NM_024426.6(WT1):c.309C>A (p.Gly103=)

SNV
Germline

Chr11:32435052

Conflicting classifications of pathogenicity

Meacham syndrome
Wilms tumor 1
Nephrotic syndrome, type 4
Condition: not provided
Drash syndrome
Frasier syndrome
Wilms tumor 1
11p partial monosomy syndrome
Hereditary cancer-predisposing syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA064811

rs_547333427

9 SubmittersRCV000276013 RCV000329886 RCV000389047 RCV000832485 RCV001083587 RCV002257599 RCV004965348

NM_024426.6(WT1):c.193G>A (p.Gly65Arg)

SNV
Germline

Chr11:32435168

Conflicting classifications of pathogenicity

Frasier syndrome
Wilms tumor 1
11p partial monosomy syndrome
Drash syndrome
Nephrotic syndrome, type 4
Wilms tumor 1
Meacham syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Inborn genetic diseases
WT1-related disorder

Criteria Provided
Conflicting Classifications

CA064714

rs_374404615

10 SubmittersRCV000229513 RCV001105881 RCV001104737 RCV001105882 RCV002257598 RCV001820764 RCV001563568 RCV002519803 RCV004739635

NM_024426.6(WT1):c.83G>A (p.Gly28Glu)

SNV
Germline

Chr11:32435278

Conflicting classifications of pathogenicity

Frasier syndrome
Wilms tumor 1
11p partial monosomy syndrome
Drash syndrome
Nephrotic syndrome, type 4
Meacham syndrome
Wilms tumor 1
6 conditions
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA065499

rs_751641518

5 SubmittersRCV000230312 RCV000324890 RCV000268747 RCV000265058 RCV005049497 RCV004760464 RCV005298468

NM_024426.6(WT1):c.70C>T (p.Arg24Cys)

SNV
Germline

Chr11:32435291

Conflicting classifications of pathogenicity

Frasier syndrome
Wilms tumor 1
11p partial monosomy syndrome
Drash syndrome
Wilms tumor 1
Condition: not provided
Drash syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10582914

rs_878855086

5 SubmittersRCV000229861 RCV001526809 RCV002281076 RCV003469162 RCV005298467

NM_003172.4(SURF1):c.586C>T (p.Gln196Ter)

SNV
Germline

Chr9:133352696

Pathogenic

Leigh syndrome
Condition: not provided
Mitochondrial complex IV deficiency, nuclear type 1
Charcot-Marie-Tooth disease type 4K
SURF1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA10584085

rs_147816470

5 SubmittersRCV000235079 RCV000578885 RCV005044488 RCV004554757

NM_000251.3(MSH2):c.-29C>T

SNV
Germline

Chr2:47403163

Conflicting classifications of pathogenicity

not specified
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA037768

rs_199841800

4 SubmittersRCV000236543 RCV000329204 RCV002057247

NM_000251.3(MSH2):c.38G>A (p.Ser13Asn)

SNV
Germline

Chr2:47403229

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA10584201

rs_63749907

6 SubmittersRCV000235367 RCV000572196 RCV003463696 RCV000688689

NM_000251.3(MSH2):c.185G>C (p.Gly62Ala)

SNV
Germline

Chr2:47403376

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10584202

rs_879254195

4 SubmittersRCV000236172 RCV000630120 RCV004567781 RCV003298310

NM_000251.3(MSH2):c.294T>A (p.Tyr98Ter)

SNV
Germline

Chr2:47408483

Pathogenic

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary nonpolyposis colon cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA10584204

rs_763872353

5 SubmittersRCV000235827 RCV001854868 RCV003454719 RCV005238781

NM_000251.3(MSH2):c.335C>T (p.Ser112Phe)

SNV
Germline

Chr2:47408524

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA10584205

rs_769215192

4 SubmittersRCV000235804 RCV001020082 RCV001211169 RCV004567776

NM_000251.3(MSH2):c.366+1G>A

SNV
Germline/somatic

Chr2:47408556

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colon cancer
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10584207

rs_267607924

7 SubmittersRCV000236788 RCV000791394 RCV000471120 RCV001020825 RCV001526857 RCV003454715

NM_000251.3(MSH2):c.565G>A (p.Ala189Thr)

SNV
Germline

Chr2:47410292

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA039268

rs_63750821

5 SubmittersRCV000236727 RCV000691636 RCV001024381 RCV003998897

NM_000251.3(MSH2):c.646-11T>C

SNV
Germline

Chr2:47412403

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA10584208

rs_879254124

5 SubmittersRCV000236134 RCV000771391 RCV000657090 RCV002057254 RCV005246911

NM_000251.3(MSH2):c.751G>A (p.Glu251Lys)

SNV
Germline

Chr2:47412519

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA040269

rs_147389443

5 SubmittersRCV000236679 RCV000562875 RCV001040201 RCV003463701

NM_000251.3(MSH2):c.817G>A (p.Val273Ile)

SNV
Germline

Chr2:47414293

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA040766

rs_530814648

7 SubmittersRCV000236426 RCV000564711 RCV000458697 RCV001356679 RCV004596150 RCV003998919

NM_000251.3(MSH2):c.891C>G (p.Ser297Arg)

SNV
Germline

Chr2:47414367

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10584210

rs_551236465

7 SubmittersRCV000236690 RCV000563882 RCV000456430 RCV003463695 RCV004806269

NM_000251.3(MSH2):c.897T>G (p.Tyr299Ter)

SNV
Germline

Chr2:47414373

Pathogenic

Condition: not provided
Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA10584211

rs_879254104

4 SubmittersRCV000236542 RCV003454717 RCV002444936 RCV001056344

NM_000251.3(MSH2):c.1077-18C>G

SNV
Germline

Chr2:47429724

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA026894

rs_746526239

4 SubmittersRCV000235939 RCV000776437 RCV002057262 RCV005425906

NM_000251.3(MSH2):c.1276G>A (p.Gly426Arg)

SNV
Germline

Chr2:47429941

Likely pathogenic

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10584213

rs_879254234

4 SubmittersRCV000236876 RCV001061266 RCV003454720 RCV004943823

NM_000251.3(MSH2):c.1474A>T (p.Met492Leu)

SNV
Germline

Chr2:47463118

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA028758

rs_774419666

4 SubmittersRCV000236460 RCV001047851 RCV003165662 RCV003998929

NM_000251.3(MSH2):c.1562A>T (p.Tyr521Phe)

SNV
Germline

Chr2:47466709

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10584215

rs_879254040

3 SubmittersRCV000235347 RCV000566599 RCV004806270

NM_000251.3(MSH2):c.2009C>A (p.Pro670His)

SNV
Germline

Chr2:47476370

Conflicting classifications of pathogenicity

Condition: not provided
Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA10584219

rs_41294982

4 SubmittersRCV000235402 RCV000708838 RCV000561699 RCV001854866

NM_000251.3(MSH2):c.2224G>A (p.Asp742Asn)

SNV
Germline

Chr2:47478285

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Lynch syndrome 1
Muir-Torré syndrome
Mismatch repair cancer syndrome 2
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA10584222

rs_879254183

7 SubmittersRCV000236064 RCV000556812 RCV000564620 RCV003998917 RCV005365200 RCV003469187

NM_000251.3(MSH2):c.2362A>C (p.Thr788Pro)

SNV
Germline

Chr2:47478423

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA035470

rs_774440277

12 SubmittersRCV000456146 RCV000569234 RCV000585967 RCV001526856 RCV003469179

NM_000251.3(MSH2):c.2650A>T (p.Ile884Phe)

SNV
Germline

Chr2:47482794

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
MSH2-related disorder
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA037220

rs_774732579

6 SubmittersRCV000236021 RCV000566067 RCV000804993 RCV003463704 RCV004535200 RCV004806271

NM_001375834.1(WIPF1):c.208G>A (p.Gly70Ser)

SNV
Germline

Chr2:174575354

Conflicting classifications of pathogenicity

not specified
Wiskott-Aldrich syndrome 2
Inborn genetic diseases
WIPF1-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1974200

rs_138276021

5 SubmittersRCV000238882 RCV000911281 RCV002518507 RCV004757178 RCV004772885

NM_000251.3(MSH2):c.212-3A>T

SNV
Germline

Chr2:47408398

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA10585969

rs_879255341

7 SubmittersRCV000238998 RCV000562339 RCV000702288 RCV000840443 RCV004541470

NM_000179.3(MSH6):c.3992G>T (p.Arg1331Leu)

SNV
Germline

Chr2:47806642

Conflicting classifications of pathogenicity

Lynch syndrome
Endometrial carcinoma
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA072455

rs_184131049

4 SubmittersRCV000239122 RCV003463708 RCV001021599 RCV001046197

NM_004168.4(SDHA):c.1002G>A (p.Ala334=)

SNV
Germline

Chr5:233583

Conflicting classifications of pathogenicity

Mitochondrial complex II deficiency, nuclear type 1
Pheochromocytoma/paraganglioma syndrome 5
Hereditary cancer-predisposing syndrome
Leigh syndrome
Mitochondrial complex II deficiency, nuclear type 1
Hereditary pheochromocytoma-paraganglioma
Condition: not provided
not specified
Pheochromocytoma/paraganglioma syndrome 5
SDHA-related disorder

Criteria Provided
Conflicting Classifications

CA3173063

rs_144252500

12 SubmittersRCV000239366 RCV000570639 RCV001152241 RCV001152242 RCV001152243 RCV001705321 RCV001820792 RCV003316318 RCV004535211

NM_004168.4(SDHA):c.1623G>A (p.Lys541=)

SNV
Germline

Chr5:251063

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Hereditary cancer-predisposing syndrome
Leigh syndrome
Mitochondrial complex II deficiency, nuclear type 1
Mitochondrial complex II deficiency, nuclear type 1
Pheochromocytoma/paraganglioma syndrome 5
Hereditary pheochromocytoma-paraganglioma
Pheochromocytoma/paraganglioma syndrome 5
Neurodegeneration with ataxia and late-onset optic atrophy
Mitochondrial complex II deficiency, nuclear type 1
Dilated cardiomyopathy 1GG
Pheochromocytoma/paraganglioma syndrome 5

Criteria Provided
Conflicting Classifications

CA3173306

rs_35502109

16 SubmittersRCV000239362 RCV000242066 RCV000569690 RCV001153642 RCV001153643 RCV001081440 RCV001153641 RCV003316319 RCV005396843

NM_004168.4(SDHA):c.155C>T (p.Ser52Phe)

SNV
Germline

Chr5:224364

Conflicting classifications of pathogenicity

Mitochondrial complex II deficiency, nuclear type 1
Pheochromocytoma/paraganglioma syndrome 5
Hereditary cancer-predisposing syndrome
Leigh syndrome
Mitochondrial complex II deficiency, nuclear type 1
Dilated cardiomyopathy 1GG
Pheochromocytoma/paraganglioma syndrome 5
not specified
Condition: not provided
Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype
Dilated cardiomyopathy 1GG
Neurodegeneration with ataxia and late-onset optic atrophy
Mitochondrial complex II deficiency, nuclear type 1
Dilated cardiomyopathy 1GG
Pheochromocytoma/paraganglioma syndrome 5
Pheochromocytoma/paraganglioma syndrome 5

Criteria Provided
Conflicting Classifications

CA3172744

rs_377470390

10 SubmittersRCV000239368 RCV000565564 RCV000764599 RCV001820793 RCV003137852 RCV003313064 RCV003475849 RCV005031828 RCV005420930

NM_004168.4(SDHA):c.1919A>G (p.Glu640Gly)

SNV
Germline

Chr5:256344

Conflicting classifications of pathogenicity

Mitochondrial complex II deficiency, nuclear type 1
Pheochromocytoma/paraganglioma syndrome 5
Hereditary cancer-predisposing syndrome
Pheochromocytoma/paraganglioma syndrome 5
Leigh syndrome
Mitochondrial complex II deficiency, nuclear type 1
Dilated cardiomyopathy 1GG
Pheochromocytoma/paraganglioma syndrome 5
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA3173461

rs_372480044

8 SubmittersRCV000239361 RCV000574591 RCV000663177 RCV000765835 RCV000836807 RCV004586651

NM_004168.4(SDHA):c.549C>T (p.Gly183=)

SNV
Germline

Chr5:225975

Conflicting classifications of pathogenicity

Mitochondrial complex II deficiency, nuclear type 1
Pheochromocytoma/paraganglioma syndrome 5
Leigh syndrome
Hereditary pheochromocytoma-paraganglioma
Mitochondrial complex II deficiency, nuclear type 1
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Pheochromocytoma/paraganglioma syndrome 5
Neurodegeneration with ataxia and late-onset optic atrophy
Mitochondrial complex II deficiency, nuclear type 1
Dilated cardiomyopathy 1GG
Pheochromocytoma/paraganglioma syndrome 5

Criteria Provided
Conflicting Classifications

CA3172874

rs_61733344

15 SubmittersRCV000239367 RCV000291747 RCV000339713 RCV000394814 RCV000418051 RCV000571465 RCV001800618 RCV003316320 RCV005396845

NM_004168.4(SDHA):c.991G>A (p.Ala331Thr)

SNV
Germline

Chr5:233572

Conflicting classifications of pathogenicity

Mitochondrial complex II deficiency, nuclear type 1
Pheochromocytoma/paraganglioma syndrome 5
Hereditary cancer-predisposing syndrome
Leigh syndrome
Mitochondrial complex II deficiency, nuclear type 1
Dilated cardiomyopathy 1GG
Pheochromocytoma/paraganglioma syndrome 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3173058

rs_200526913

6 SubmittersRCV000239369 RCV000567963 RCV000765830 RCV002291613

NM_024426.6(WT1):c.696C>T (p.Ser232=)

SNV
Germline

Chr11:32428585

Conflicting classifications of pathogenicity

not specified
Wilms tumor 1
Nephrotic syndrome, type 4
Meacham syndrome
Frasier syndrome
Drash syndrome
Wilms tumor 1
11p partial monosomy syndrome
Hereditary cancer-predisposing syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA065495

rs_9332974

8 SubmittersRCV000250757 RCV000262238 RCV000322068 RCV000376647 RCV000464602 RCV002257622 RCV004965362

NM_024426.6(WT1):c.381C>G (p.Pro127=)

SNV
Germline

Chr11:32434980

Conflicting classifications of pathogenicity

Wilms tumor 1
not specified
Wilms tumor 1
11p partial monosomy syndrome
Frasier syndrome
Drash syndrome
Condition: not provided
Nephrotic syndrome, type 4
Meacham syndrome
Hereditary cancer-predisposing syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA064867

rs_771681406

8 SubmittersRCV000296276 RCV000250670 RCV000458360 RCV001091948 RCV000331399 RCV000385897 RCV002255349 RCV004965359

NM_000251.3(MSH2):c.1204C>G (p.Gln402Glu)

SNV
Germline

Chr2:47429869

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10588342

rs_63751412

7 SubmittersRCV000255442 RCV000704303 RCV001010317 RCV002248492 RCV004567809 RCV003995743

NM_000251.3(MSH2):c.1865C>G (p.Pro622Arg)

SNV
Germline

Chr2:47475130

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10588344

rs_28929483

5 SubmittersRCV000256112 RCV000629692 RCV000491622 RCV003454782

NM_000251.3(MSH2):c.2075G>A (p.Gly692Glu)

SNV
Germline/somatic

Chr2:47476436

Conflicting classifications of pathogenicity

Condition: not provided
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Carcinoma of colon

Criteria Provided
Conflicting Classifications

CA10588345

rs_63751432

6 SubmittersRCV000255143 RCV000501019 RCV000803818 RCV000772137 RCV001353568

NM_024120.5(NDUFAF5):c.327G>C (p.Lys109Asn)

SNV
Germline

Chr20:13788652

Pathogenic/Likely pathogenic

Condition: not provided
Mitochondrial complex I deficiency, nuclear type 16
Inborn genetic diseases
Mitochondrial complex I deficiency, nuclear type 1
Mitochondrial complex I deficiency
NDUFAF5-related disorder
Leigh syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA9767701

rs_150613320

13 SubmittersRCV000255420 RCV001507283 RCV001266325 RCV001824717 RCV001833296 RCV004757983 RCV004701358

NM_000377.3(WAS):c.223G>A (p.Val75Met)

SNV
Germline

ChrX:48684373

Pathogenic

Condition: not provided
Thrombocytopenia 1
Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia
Thrombocytopenia 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10403870

rs_782290433

6 SubmittersRCV000255132 RCV000768136 RCV000589566

NM_022552.5(DNMT3A):c.895A>C (p.Lys299Gln)

SNV
Germline

Chr2:25247710

Likely pathogenic

Tatton-Brown-Rahman overgrowth syndrome

Criteria Provided
Single Submitter

CA10588955

rs_766858016

1 SubmittersRCV000256441

NM_078470.6(COX15):c.396-3C>G

SNV
Germline

Chr10:99727157

Conflicting classifications of pathogenicity

Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2
Condition: not provided
Leigh syndrome

Criteria Provided
Conflicting Classifications

CA5642274

rs_200910834

7 SubmittersRCV000006553 RCV000266470 RCV002469094

NM_003172.4(SURF1):c.688C>T (p.Arg230Ter)

SNV
Germline

Chr9:133352509

Pathogenic

Condition: not provided
Leigh syndrome
Charcot-Marie-Tooth disease type 4K
Mitochondrial complex IV deficiency, nuclear type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10603164

rs_782623477

5 SubmittersRCV000321649 RCV000631405 RCV005049509

NM_015272.5(RPGRIP1L):c.1489G>T (p.Glu497Ter)

SNV
Germline

Chr16:53657545

Pathogenic/Likely pathogenic

Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
RPGRIP1L-related disorder
Joubert syndrome 7
COACH syndrome 3
Meckel syndrome, type 5

Criteria Provided
Multiple Submitters
No Conflicts

CA8057784

rs_756821449

4 SubmittersRCV000365145 RCV000797386 RCV004535245 RCV005008228

NM_000540.3(RYR1):c.10648C>T (p.Arg3550Trp)

SNV
Germline

Chr19:38527014

Conflicting classifications of pathogenicity

Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
Neuromuscular disease, congenital, with uniform type 1 fiber
Malignant hyperthermia, susceptibility to, 1
Condition: not provided
Inborn genetic diseases
not specified
RYR1-related disorder
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA054285

rs_536304635

13 SubmittersRCV000280179 RCV000398390 RCV000335257 RCV000338681 RCV000656969 RCV001266921 RCV001731554 RCV000818112 RCV005016666

NM_015272.5(RPGRIP1L):c.962G>A (p.Arg321His)

SNV
Germline

Chr16:53672937

Conflicting classifications of pathogenicity

Condition: not provided
Meckel syndrome, type 5
Nephronophthisis 8
Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome
COACH syndrome 3
Joubert syndrome 7
Meckel syndrome, type 5
not specified
RPGRIP1L-related disorder
Joubert syndrome 7

Criteria Provided
Conflicting Classifications

CA8057968

rs_183419371

9 SubmittersRCV000375576 RCV001117359 RCV001117358 RCV001241000 RCV001833330 RCV002487213 RCV004017583 RCV004535307 RCV001117360

NM_015272.5(RPGRIP1L):c.910G>A (p.Asp304Asn)

SNV
Germline

Chr16:53672989

Conflicting classifications of pathogenicity

Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome
RPGRIP1L-related disorder
Nephronophthisis 8
Joubert syndrome 7
Meckel syndrome, type 5
Inborn genetic diseases
Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3

Criteria Provided
Conflicting Classifications

CA8057978

rs_530772984

8 SubmittersRCV000270824 RCV000800938 RCV001833337 RCV004535336 RCV001117361 RCV001117362 RCV001117363 RCV005470404 RCV002480021

NM_022552.5(DNMT3A):c.1903C>T (p.Arg635Trp)

SNV
Germline/somatic

Chr2:25243931

Conflicting classifications of pathogenicity

Tatton-Brown-Rahman overgrowth syndrome
Condition: not provided
Autism spectrum disorder
Tatton-Brown-Rahman overgrowth syndrome
Acute myeloid leukemia
Tatton-Brown-Rahman overgrowth syndrome
Heyn-Sproul-Jackson syndrome
Neoplasm
Inborn genetic diseases
DNMT3A-related disorder

Criteria Provided
Conflicting Classifications

CA1555830

rs_144689354

10 SubmittersRCV000367312 RCV000433567 RCV003313065 RCV003883148 RCV004668881 RCV005328235 RCV004745319

NM_000540.3(RYR1):c.14344G>A (p.Gly4782Arg)

SNV
Germline

Chr19:38578184

Conflicting classifications of pathogenicity

Condition: not provided
RYR1-related disorder
RYR1-related myopathy
Malignant hyperthermia, susceptibility to, 1
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
King Denborough syndrome

Criteria Provided
Conflicting Classifications

CA061124

rs_746538672

8 SubmittersRCV000725566 RCV001042937 RCV002519169 RCV003995775 RCV005355592

NM_001378615.1(CC2D2A):c.971G>A (p.Arg324His)

SNV
Germline

Chr4:15515958

Conflicting classifications of pathogenicity

Condition: not provided
Meckel syndrome, type 6
Joubert syndrome 9
Joubert syndrome
Meckel-Gruber syndrome
Retinitis pigmentosa 93
COACH syndrome 2
Meckel syndrome, type 6
Joubert syndrome 9

Criteria Provided
Conflicting Classifications

CA2863530

rs_113371687

5 SubmittersRCV000377738 RCV001146978 RCV001146979 RCV001315399 RCV005025424

NM_015272.5(RPGRIP1L):c.1682G>A (p.Arg561His)

SNV
Germline

Chr16:53656489

Conflicting classifications of pathogenicity

Nephronophthisis 8
Joubert syndrome 7
Meckel syndrome, type 5
Condition: not provided
Joubert syndrome
COACH syndrome 3
Joubert syndrome 7
Meckel syndrome, type 5
Joubert syndrome
Meckel-Gruber syndrome
Inborn genetic diseases
RPGRIP1L-related disorder

Criteria Provided
Conflicting Classifications

CA8057737

rs_147366111

8 SubmittersRCV000276180 RCV000325211 RCV000382161 RCV000725929 RCV001271332 RCV002487244 RCV001243651 RCV004021214 RCV004529473

NM_001378615.1(CC2D2A):c.2483G>A (p.Arg828Gln)

SNV
Germline

Chr4:15553302

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
COACH syndrome 1

Criteria Provided
Conflicting Classifications

CA2863930

rs_375243763

3 SubmittersRCV000402581 RCV001202071 RCV001334751

NM_018344.6(SLC29A3):c.128T>G (p.Leu43Arg)

SNV
Germline

Chr10:71322882

Conflicting classifications of pathogenicity

not specified
H syndrome
Condition: not provided
SLC29A3-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5542824

rs_146764905

8 SubmittersRCV000389149 RCV000644615 RCV001701933 RCV004754372 RCV002519284

NM_000377.3(WAS):c.264C>T (p.Tyr88=)

SNV
Germline

ChrX:48684414

Conflicting classifications of pathogenicity

Condition: not provided
X-linked severe congenital neutropenia
Wiskott-Aldrich syndrome
Thrombocytopenia 1
WAS-related disorder

Criteria Provided
Conflicting Classifications

CA10403873

rs_150520117

6 SubmittersRCV000385059 RCV001083957 RCV003930142

NM_001378615.1(CC2D2A):c.3577A>G (p.Ile1193Val)

SNV
Germline

Chr4:15570479

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome 9
COACH syndrome 1
Meckel syndrome, type 6
Meckel-Gruber syndrome
Joubert syndrome
Inborn genetic diseases
CC2D2A-related disorder
Intellectual disability

Criteria Provided
Conflicting Classifications

CA2864205

rs_188891842

7 SubmittersRCV000263818 RCV000765761 RCV001081652 RCV002521992 RCV004543114 RCV005625517

NM_001378615.1(CC2D2A):c.2945G>A (p.Arg982His)

SNV
Germline

Chr4:15560553

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome 9
COACH syndrome 1
Meckel syndrome, type 6
Meckel-Gruber syndrome
Joubert syndrome
CC2D2A-related disorder
Inborn genetic diseases
Intellectual disability

Criteria Provided
Conflicting Classifications

CA2864042

rs_150093365

7 SubmittersRCV000321273 RCV000765759 RCV001087972 RCV004543116 RCV002518042 RCV005625518

NM_015272.5(RPGRIP1L):c.1810G>A (p.Glu604Lys)

SNV
Germline

Chr16:53652877

Conflicting classifications of pathogenicity

Joubert syndrome 7
Meckel syndrome, type 5
Nephronophthisis 8
Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome 7
Meckel syndrome, type 5
COACH syndrome 1
Inborn genetic diseases
Joubert syndrome
RPGRIP1L-related disorder

Criteria Provided
Conflicting Classifications

CA8057696

rs_143863631

8 SubmittersRCV000264423 RCV000303891 RCV000361003 RCV000726350 RCV001054615 RCV000765294 RCV002522007 RCV001833391 RCV004543128

NM_001079866.2(BCS1L):c.201C>T (p.Leu67=)

SNV
Germline

Chr2:218661188

Conflicting classifications of pathogenicity

Leigh syndrome
GRACILE syndrome
Mitochondrial complex III deficiency nuclear type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2109620

rs_142540289

5 SubmittersRCV000273790 RCV000313563 RCV000370613 RCV000376147

NM_024426.6(WT1):c.1059C>T (p.Ile353=)

SNV
Germline

Chr11:32400002

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Frasier syndrome
Drash syndrome
Wilms tumor 1
11p partial monosomy syndrome

Criteria Provided
Conflicting Classifications

CA064082

rs_527655625

3 SubmittersRCV000288082 RCV004965380 RCV001081282

NM_001378615.1(CC2D2A):c.1691C>T (p.Thr564Met)

SNV
Germline

Chr4:15537003

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome 9
Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 6
Retinitis pigmentosa 93
COACH syndrome 2
Meckel syndrome, type 6
Joubert syndrome 9
Inborn genetic diseases
CC2D2A-related disorder

Criteria Provided
Conflicting Classifications

CA2863732

rs_201954181

6 SubmittersRCV000335348 RCV001149502 RCV001248140 RCV001149503 RCV002487294 RCV002518166 RCV004537623

NM_001079866.2(BCS1L):c.321-12G>A

SNV
Germline

Chr2:218661394

Conflicting classifications of pathogenicity

Leigh syndrome
Mitochondrial complex III deficiency nuclear type 1
GRACILE syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2109643

rs_776363896

2 SubmittersRCV000285241 RCV000324948 RCV000382055 RCV003574755

NM_001079866.2(BCS1L):c.258T>C (p.His86=)

SNV
Germline

Chr2:218661245

Conflicting classifications of pathogenicity

Leigh syndrome
GRACILE syndrome
Mitochondrial complex III deficiency nuclear type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10612819

rs_886055627

4 SubmittersRCV000272188 RCV000330882 RCV000364504 RCV000982868

NM_004544.4(NDUFA10):c.549T>C (p.Cys183=)

SNV
Germline

Chr2:240014859

Conflicting classifications of pathogenicity

Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 1
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2200958

rs_149783296

3 SubmittersRCV000301141 RCV000392325 RCV000613561 RCV002519957

NM_004544.4(NDUFA10):c.*647C>T

SNV
Germline

Chr2:239960471

Conflicting classifications of pathogenicity

Mitochondrial complex I deficiency, nuclear type 1
Leigh syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10613273

rs_116254382

2 SubmittersRCV000268599 RCV000321400 RCV001797082

NM_004544.4(NDUFA10):c.749+11C>T

SNV
Germline

Chr2:240011606

Conflicting classifications of pathogenicity

Leigh syndrome
Mitochondrial complex I deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2200881

rs_200760509

3 SubmittersRCV000305494 RCV000360176 RCV001672578

NM_000251.3(MSH2):c.2463C>T (p.Val821=)

SNV
Germline

Chr2:47480700

Conflicting classifications of pathogenicity

Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA10613578

rs_886056136

5 SubmittersRCV000345749 RCV000581774 RCV002057703

NM_000179.3(MSH6):c.339C>T (p.His113=)

SNV
Germline

Chr2:47791005

Conflicting classifications of pathogenicity

Lynch syndrome 5
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Hereditary nonpolyposis colorectal neoplasms
Malignant tumor of breast
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA10613588

rs_886056141

9 SubmittersRCV000381615 RCV000573597 RCV000588746 RCV000855622 RCV001085785 RCV001357083 RCV003150166

NM_000179.3(MSH6):c.2562G>T (p.Lys854Asn)

SNV
Germline

Chr2:47800545

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA069186

rs_759048538

7 SubmittersRCV000276074 RCV000630372 RCV002256216 RCV003463784

NM_005006.7(NDUFS1):c.1516G>A (p.Val506Ile)

SNV
Germline

Chr2:206132982

Conflicting classifications of pathogenicity

Mitochondrial complex I deficiency, nuclear type 1
Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 5
Condition: not provided
See cases
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2070426

rs_137889316

10 SubmittersRCV000348996 RCV000397471 RCV001728094 RCV001861145 RCV002252098 RCV004955438

NM_001079866.2(BCS1L):c.-14G>A

SNV
Germline

Chr2:218660974

Conflicting classifications of pathogenicity

GRACILE syndrome
Mitochondrial complex III deficiency nuclear type 1
Leigh syndrome
not specified

Criteria Provided
Conflicting Classifications

CA2109591

rs_367721351

2 SubmittersRCV000340599 RCV000302189 RCV000395551 RCV000605569

NM_001079866.2(BCS1L):c.768C>G (p.Leu256=)

SNV
Germline

Chr2:218662558

Conflicting classifications of pathogenicity

Mitochondrial complex III deficiency nuclear type 1
Leigh syndrome
GRACILE syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2109753

rs_781666793

4 SubmittersRCV000279975 RCV000338686 RCV000394839 RCV000927961

NM_001079866.2(BCS1L):c.822G>A (p.Pro274=)

SNV
Germline

Chr2:218662612

Conflicting classifications of pathogenicity

Leigh syndrome
Mitochondrial complex III deficiency nuclear type 1
GRACILE syndrome
not specified
Condition: not provided
BCS1L-related disorder

Criteria Provided
Conflicting Classifications

CA2109770

rs_112329020

5 SubmittersRCV000311482 RCV000351273 RCV000401551 RCV000426045 RCV000913045 RCV004732851

NM_004544.3(NDUFA10):c.-93G>T

SNV
Germline

Chr2:240025394

Conflicting classifications of pathogenicity

Leigh syndrome
Mitochondrial complex I deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10614726

rs_577432343

2 SubmittersRCV000300216 RCV000350479 RCV002263607

NM_000179.3(MSH6):c.1267C>A (p.Leu423Ile)

SNV
Germline

Chr2:47799250

Conflicting classifications of pathogenicity

Lynch syndrome 5
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10615505

rs_587781657

6 SubmittersRCV000300787 RCV001571224 RCV000688085 RCV000564277 RCV003995876

NM_133259.4(LRPPRC):c.1677+7C>T

SNV
Germline

Chr2:43950566

Conflicting classifications of pathogenicity

Leigh syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1638839

rs_374995996

2 SubmittersRCV000321679 RCV001443264

NM_000251.3(MSH2):c.335C>G (p.Ser112Cys)

SNV
Germline

Chr2:47408524

Conflicting classifications of pathogenicity

Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA037917

rs_769215192

3 SubmittersRCV000389495 RCV002323544 RCV003758755

NM_004168.4(SDHA):c.723C>T (p.Asp241=)

SNV
Germline

Chr5:228286

Conflicting classifications of pathogenicity

Hereditary pheochromocytoma-paraganglioma
Mitochondrial complex II deficiency, nuclear type 1
Leigh syndrome
Pheochromocytoma/paraganglioma syndrome 5
Mitochondrial complex II deficiency, nuclear type 1
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Neurodegeneration with ataxia and late-onset optic atrophy
Pheochromocytoma/paraganglioma syndrome 5
Mitochondrial complex II deficiency, nuclear type 1
Dilated cardiomyopathy 1GG
Pheochromocytoma/paraganglioma syndrome 5

Criteria Provided
Conflicting Classifications

CA3172951

rs_146653693

16 SubmittersRCV000275715 RCV000334152 RCV000381733 RCV000457962 RCV000562470 RCV001529253 RCV001821078 RCV005398480 RCV005420942

NM_004168.4(SDHA):c.1092C>T (p.Val364=)

SNV
Germline

Chr5:235171

Conflicting classifications of pathogenicity

Mitochondrial complex II deficiency, nuclear type 1
Leigh syndrome
Hereditary pheochromocytoma-paraganglioma
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10620256

rs_886060515

3 SubmittersRCV000260734 RCV000316002 RCV000355512 RCV004695857 RCV002446606

NM_174889.5(NDUFAF2):c.98A>G (p.Tyr33Cys)

SNV
Germline

Chr5:60945353

Conflicting classifications of pathogenicity

Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3278067

rs_779872068

2 SubmittersRCV000294764 RCV000386723 RCV003278786

NM_174889.5(NDUFAF2):c.414T>A (p.Phe138Leu)

SNV
Germline

Chr5:61152859

Conflicting classifications of pathogenicity

Leigh syndrome
Inborn genetic diseases
Mitochondrial complex I deficiency, nuclear type 1

Criteria Provided
Conflicting Classifications

CA3278195

rs_770172045

2 SubmittersRCV000302238 RCV004649139 RCV000400065

NM_000108.5(DLD):c.*1736T>C

SNV
Germline

Chr7:107920995

Conflicting classifications of pathogenicity

Pyruvate dehydrogenase E3 deficiency
Pyruvate dehydrogenase complex deficiency
Leigh syndrome

Criteria Provided
Conflicting Classifications

CA10622985

rs_190655078

1 SubmittersRCV000283475 RCV000340859 RCV000380454

NM_004168.4(SDHA):c.-1C>T

SNV
Germline

Chr5:218355

Conflicting classifications of pathogenicity

Leigh syndrome
Mitochondrial complex II deficiency, nuclear type 1
Hereditary pheochromocytoma-paraganglioma
Hereditary cancer-predisposing syndrome
Condition: not provided
Neurodegeneration with ataxia and late-onset optic atrophy
Pheochromocytoma/paraganglioma syndrome 5
Mitochondrial complex II deficiency, nuclear type 1
Dilated cardiomyopathy 1GG

Criteria Provided
Conflicting Classifications

CA3172673

rs_560932680

6 SubmittersRCV000279041 RCV000317717 RCV000380480 RCV001013984 RCV003137969 RCV005033891

NM_004168.4(SDHA):c.1580G>A (p.Arg527His)

SNV
Germline

Chr5:251020

Conflicting classifications of pathogenicity

Mitochondrial complex II deficiency, nuclear type 1
Hereditary pheochromocytoma-paraganglioma
Leigh syndrome
Pheochromocytoma/paraganglioma syndrome 5
Mitochondrial complex II deficiency, nuclear type 1
Hereditary cancer-predisposing syndrome
Dilated cardiomyopathy 1GG

Criteria Provided
Conflicting Classifications

CA3173301

rs_766352407

4 SubmittersRCV000287976 RCV000352061 RCV000396802 RCV000461471 RCV001012256 RCV003475935

NM_004168.4(SDHA):c.*133G>C

SNV
Germline

Chr5:256553

Conflicting classifications of pathogenicity

Leigh syndrome
Hereditary pheochromocytoma-paraganglioma
Mitochondrial complex II deficiency, nuclear type 1

Criteria Provided
Conflicting Classifications

CA10624444

rs_193112615

1 SubmittersRCV000285270 RCV000334630 RCV000379866

NM_002495.4(NDUFS4):c.178-4G>C

SNV
Germline

Chr5:53646229

Conflicting classifications of pathogenicity

Mitochondrial complex I deficiency, nuclear type 1
Leigh syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3264238

rs_200384843

2 SubmittersRCV000337873 RCV000395461 RCV002523527

NM_174889.5(NDUFAF2):c.128-14C>G

SNV
Germline

Chr5:61073111

Conflicting classifications of pathogenicity

Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3278114

rs_537327206

2 SubmittersRCV000351951 RCV000399037 RCV002520379

NM_174889.5(NDUFAF2):c.196G>C (p.Asp66His)

SNV
Germline

Chr5:61073193

Conflicting classifications of pathogenicity

Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3278128

rs_769579395

2 SubmittersRCV000298358 RCV000336991 RCV003243110

NM_000108.5(DLD):c.1503G>A (p.Ala501=)

SNV
Germline

Chr7:107919232

Conflicting classifications of pathogenicity

Leigh syndrome
Pyruvate dehydrogenase complex deficiency
Pyruvate dehydrogenase E3 deficiency

Criteria Provided
Conflicting Classifications

CA4434735

rs_766286119

2 SubmittersRCV000282664 RCV000337641 RCV000376969

NM_000108.5(DLD):c.74A>C (p.Gln25Pro)

SNV
Germline

Chr7:107893234

Conflicting classifications of pathogenicity

Leigh syndrome
Pyruvate dehydrogenase E3 deficiency
Pyruvate dehydrogenase complex deficiency
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4434344

rs_61749951

3 SubmittersRCV000266066 RCV000321362 RCV000360727 RCV003168554

NM_000108.5(DLD):c.*470G>A

SNV
Germline

Chr7:107919729

Conflicting classifications of pathogenicity

Pyruvate dehydrogenase complex deficiency
Leigh syndrome
Pyruvate dehydrogenase E3 deficiency

Criteria Provided
Conflicting Classifications

CA10627980

rs_111619940

1 SubmittersRCV000296036 RCV000348657 RCV000401807

NM_000108.5(DLD):c.1465-7C>G

SNV
Germline

Chr7:107919187

Conflicting classifications of pathogenicity

Leigh syndrome
Pyruvate dehydrogenase complex deficiency
Pyruvate dehydrogenase E3 deficiency

Criteria Provided
Conflicting Classifications

CA10628052

rs_886061908

2 SubmittersRCV000286136 RCV000322294 RCV000380507

NM_003172.4(SURF1):c.211G>C (p.Val71Leu)

SNV
Germline

Chr9:133354853

Conflicting classifications of pathogenicity

Leigh syndrome
not specified
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10629377

rs_147993882

6 SubmittersRCV000264670 RCV000507001 RCV001354540 RCV003168574

NM_000535.7(PMS2):c.1918G>A (p.Glu640Lys)

SNV
Germline

Chr7:5986847

Conflicting classifications of pathogenicity

Lynch syndrome 4
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10629440

rs_886062400

8 SubmittersRCV000278327 RCV000482265 RCV000543398 RCV001093664 RCV000562926 RCV005355681

NM_024426.6(WT1):c.887+4G>A

SNV
Germline

Chr11:32427952

Conflicting classifications of pathogenicity

Nephrotic syndrome, type 4
Meacham syndrome
Wilms tumor 1
Wilms tumor 1
Drash syndrome
11p partial monosomy syndrome
Frasier syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA065807

rs_778673400

4 SubmittersRCV000261951 RCV000353359 RCV000368224 RCV000470103 RCV004965388

NM_024426.6(WT1):c.390A>G (p.Pro130=)

SNV
Germline

Chr11:32434971

Conflicting classifications of pathogenicity

Meacham syndrome
Nephrotic syndrome, type 4
Wilms tumor 1
Drash syndrome
Frasier syndrome
Wilms tumor 1
11p partial monosomy syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10630774

rs_886048228

3 SubmittersRCV000270783 RCV000325850 RCV000385110 RCV001406430 RCV005512722

NM_024426.6(WT1):c.162C>G (p.Ser54Arg)

SNV
Germline

Chr11:32435199

Conflicting classifications of pathogenicity

Wilms tumor 1
Drash syndrome
11p partial monosomy syndrome
Frasier syndrome
Wilms tumor 1
Inborn genetic diseases
6 conditions
Meacham syndrome
Nephrotic syndrome, type 4

Criteria Provided
Conflicting Classifications

CA064646

rs_776954184

6 SubmittersRCV000465825 RCV000709153 RCV003165825 RCV005044569 RCV000346620 RCV000393616

NM_007103.4(NDUFV1):c.326+12G>A

SNV
Germline

Chr11:67608734

Conflicting classifications of pathogenicity

Mitochondrial complex I deficiency, nuclear type 1
Leigh syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6143135

rs_184136353

2 SubmittersRCV000307097 RCV000363981 RCV002056232

NM_007103.4(NDUFV1):c.606G>A (p.Gly202=)

SNV
Germline

Chr11:67610476

Conflicting classifications of pathogenicity

Mitochondrial complex I deficiency, nuclear type 1
Leigh syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10631385

rs_886048589

2 SubmittersRCV000291492 RCV000343621 RCV003708510

NM_002496.4(NDUFS8):c.299C>T (p.Ala100Val)

SNV
Germline

Chr11:68033210

Conflicting classifications of pathogenicity

Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6146437

rs_748754134

2 SubmittersRCV000307867 RCV000344135 RCV000490220

NM_002496.4(NDUFS8):c.501+12C>G

SNV
Germline

Chr11:68036393

Conflicting classifications of pathogenicity

Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10631392

rs_372004236

2 SubmittersRCV000367973 RCV000390827 RCV002056233

NM_018344.6(SLC29A3):c.797C>T (p.Ala266Val)

SNV
Germline

Chr10:71361977

Conflicting classifications of pathogenicity

H syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5543057

rs_142991278

3 SubmittersRCV000365829 RCV004965385

NM_018344.6(SLC29A3):c.855G>A (p.Ser285=)

SNV
Germline

Chr10:71362035

Conflicting classifications of pathogenicity

H syndrome

Criteria Provided
Conflicting Classifications

CA5543066

rs_566110994

2 SubmittersRCV000367100

NM_003172.4(SURF1):c.366C>T (p.Val122=)

SNV
Germline

Chr9:133353898

Conflicting classifications of pathogenicity

Leigh syndrome

Criteria Provided
Conflicting Classifications

CA10632727

rs_886063630

2 SubmittersRCV000268062

NM_024426.6(WT1):c.1200C>T (p.Tyr400=)

SNV
Germline

Chr11:32396321

Conflicting classifications of pathogenicity

Nephrotic syndrome, type 4
Wilms tumor 1
Meacham syndrome
Wilms tumor 1
Drash syndrome
11p partial monosomy syndrome
Frasier syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10634685

rs_886048227

5 SubmittersRCV000272000 RCV000310774 RCV000359651 RCV000897033 RCV004965387

NM_024426.6(WT1):c.174C>G (p.Leu58=)

SNV
Germline

Chr11:32435187

Conflicting classifications of pathogenicity

Nephrotic syndrome, type 4
Wilms tumor 1
Meacham syndrome
Drash syndrome
Frasier syndrome
Wilms tumor 1
11p partial monosomy syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Inborn genetic diseases
WT1-related disorder

Criteria Provided
Conflicting Classifications

CA10634700

rs_886048232

6 SubmittersRCV000326942 RCV000320416 RCV000379774 RCV001406806 RCV002292517 RCV002257630 RCV004965390 RCV004549661

NM_004551.3(NDUFS3):c.783T>C (p.Pro261=)

SNV
Germline

Chr11:47584469

Conflicting classifications of pathogenicity

Leigh syndrome
Condition: not provided
Mitochondrial complex I deficiency, nuclear type 1
NDUFS3-related disorder

Criteria Provided
Conflicting Classifications

CA5978099

rs_117981655

4 SubmittersRCV000284678 RCV000939941 RCV000406732 RCV004544516

NM_007103.4(NDUFV1):c.366G>A (p.Pro122=)

SNV
Germline

Chr11:67609491

Conflicting classifications of pathogenicity

Mitochondrial complex I deficiency, nuclear type 1
Leigh syndrome
not specified
Condition: not provided
NDUFV1-related disorder

Criteria Provided
Conflicting Classifications

CA6143155

rs_140445386

4 SubmittersRCV000275192 RCV000367341 RCV000444047 RCV000880288 RCV004544517

NM_007103.4(NDUFV1):c.563G>A (p.Gly188Asp)

SNV
Germline

Chr11:67610433

Conflicting classifications of pathogenicity

Mitochondrial complex I deficiency, nuclear type 1
Leigh syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6143212

rs_142982022

3 SubmittersRCV000321979 RCV000383441 RCV000523777

NM_007103.4(NDUFV1):c.819C>T (p.Thr273=)

SNV
Germline

Chr11:67611113

Conflicting classifications of pathogenicity

Mitochondrial complex I deficiency, nuclear type 1
Leigh syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6143291

rs_150859374

4 SubmittersRCV000351838 RCV000392952 RCV000885478

NM_007103.4(NDUFV1):c.843T>C (p.His281=)

SNV
Germline

Chr11:67611137

Conflicting classifications of pathogenicity

Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6143296

rs_766555879

2 SubmittersRCV000312468 RCV000355545 RCV000907358

NM_007103.4(NDUFV1):c.1075C>T (p.Arg359Cys)

SNV
Germline

Chr11:67611564

Conflicting classifications of pathogenicity

Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 1
Condition: not provided
NDUFV1-related disorder

Criteria Provided
Conflicting Classifications

CA6143373

rs_142499054

6 SubmittersRCV000265767 RCV000327949 RCV000761787 RCV004537723

NM_002496.4(NDUFS8):c.200-14C>T

SNV
Germline

Chr11:68033097

Conflicting classifications of pathogenicity

Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6146422

rs_373128833

2 SubmittersRCV000342747 RCV000401109 RCV002520746

NM_002496.4(NDUFS8):c.459C>T (p.Cys153=)

SNV
Germline

Chr11:68036339

Conflicting classifications of pathogenicity

Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6146535

rs_149201273

3 SubmittersRCV000308579 RCV000390917 RCV000907728

NM_002496.4(NDUFS8):c.502-10C>T

SNV
Germline

Chr11:68036452

Conflicting classifications of pathogenicity

Mitochondrial complex I deficiency, nuclear type 1
Leigh syndrome
not specified
Condition: not provided
NDUFS8-related disorder

Criteria Provided
Conflicting Classifications

CA6146557

rs_369961682

4 SubmittersRCV000260796 RCV000315895 RCV000602666 RCV000898642 RCV003950032

NM_002496.4(NDUFS8):c.597C>T (p.Ile199=)

SNV
Germline

Chr11:68036557

Conflicting classifications of pathogenicity

Mitochondrial complex I deficiency, nuclear type 1
Leigh syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6146575

rs_1804688

4 SubmittersRCV000265926 RCV000356692 RCV001718621

NM_078470.6(COX15):c.582+14A>G

SNV
Germline

Chr10:99726954

Conflicting classifications of pathogenicity

Leigh syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5642234

rs_79410539

3 SubmittersRCV000285899 RCV000443501 RCV001523675

NM_078470.6(COX15):c.1029C>A (p.Leu343=)

SNV
Germline

Chr10:99716420

Conflicting classifications of pathogenicity

Leigh syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5642109

rs_757725009

2 SubmittersRCV000374551 RCV003718156

NM_078470.6(COX15):c.255T>C (p.Ile85=)

SNV
Germline

Chr10:99729570

Conflicting classifications of pathogenicity

Leigh syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5642324

rs_147881961

3 SubmittersRCV000396573 RCV001672415

NM_024426.6(WT1):c.1198T>C (p.Tyr400His)

SNV
Germline

Chr11:32396323

Conflicting classifications of pathogenicity

Meacham syndrome
Wilms tumor 1
Inborn genetic diseases
Condition: not provided
Nephrotic syndrome, type 4
Wilms tumor 1
Drash syndrome
11p partial monosomy syndrome
Frasier syndrome
6 conditions

Criteria Provided
Conflicting Classifications

CA064344

rs_746353651

5 SubmittersRCV000332520 RCV000270479 RCV003165824 RCV004772892 RCV000363180 RCV000653775 RCV005044568

NM_024426.6(WT1):c.-106C>T

SNV
Germline

Chr11:32435466

Conflicting classifications of pathogenicity

Wilms tumor 1
Meacham syndrome
Drash syndrome
Nephrotic syndrome, type 4
WT1-related disorder

Criteria Provided
Conflicting Classifications

CA10638330

rs_867975105

3 SubmittersRCV000285278 RCV000309401 RCV000988525 RCV000391926 RCV004549662

NM_004551.3(NDUFS3):c.657G>A (p.Val219=)

SNV
Germline

Chr11:47584343

Conflicting classifications of pathogenicity

Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5978068

rs_377323760

3 SubmittersRCV000325919 RCV000382544 RCV002056209

NM_004589.4(SCO1):c.868A>G (p.Ile290Val)

SNV
Germline

Chr17:10681157

Conflicting classifications of pathogenicity

Mitochondrial complex IV deficiency, nuclear type 1
Leigh syndrome
Mitochondrial complex IV deficiency, nuclear type 4
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8393457

rs_139771078

7 SubmittersRCV000265637 RCV000324448 RCV003137923 RCV002061215 RCV005268591

NM_001303.4(COX10):c.543G>A (p.Pro181=)

SNV
Germline

Chr17:14102161

Conflicting classifications of pathogenicity

Mitochondrial complex IV deficiency, nuclear type 1
Leigh syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8402358

rs_371273328

3 SubmittersRCV000328617 RCV000383020 RCV001564175

NM_024426.6(WT1):c.1017-15T>C

SNV
Germline

Chr11:32400059

Conflicting classifications of pathogenicity

Wilms tumor 1
Meacham syndrome
Nephrotic syndrome, type 4
Wilms tumor 1
Drash syndrome
11p partial monosomy syndrome
Frasier syndrome

Criteria Provided
Conflicting Classifications

CA063974

rs_374441355

2 SubmittersRCV000307685 RCV000311257 RCV000393433 RCV002056199

NM_024426.6(WT1):c.695G>C (p.Ser232Thr)

SNV
Germline

Chr11:32428586

Conflicting classifications of pathogenicity

Nephrotic syndrome, type 4
Wilms tumor 1
Wilms tumor 1
Drash syndrome
11p partial monosomy syndrome
Frasier syndrome
Inborn genetic diseases
Meacham syndrome

Criteria Provided
Conflicting Classifications

CA065489

rs_761913397

3 SubmittersRCV000347410 RCV000382270 RCV001521008 RCV004965389 RCV000323122

NM_024426.6(WT1):c.587G>A (p.Gly196Asp)

SNV
Germline

Chr11:32434774

Conflicting classifications of pathogenicity

Wilms tumor 1
Nephrotic syndrome, type 4
Meacham syndrome
Wilms tumor 1
Drash syndrome
11p partial monosomy syndrome
Frasier syndrome
Condition: not provided
Drash syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA065067

rs_753112302

5 SubmittersRCV000313309 RCV000354093 RCV000397632 RCV000653778 RCV003324741 RCV004567850 RCV005306003

NM_007103.4(NDUFV1):c.414G>T (p.Leu138=)

SNV
Germline

Chr11:67609539

Conflicting classifications of pathogenicity

Leigh syndrome
Mitochondrial complex I deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6143165

rs_148461900

3 SubmittersRCV000318618 RCV000353349 RCV001310971

NM_007103.4(NDUFV1):c.1017C>T (p.Phe339=)

SNV
Germline

Chr11:67611506

Conflicting classifications of pathogenicity

Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6143362

rs_371426372

2 SubmittersRCV000267146 RCV000354895 RCV003765798

NM_007103.4(NDUFV1):c.1309-9C>T

SNV
Germline

Chr11:67612363

Conflicting classifications of pathogenicity

Mitochondrial complex I deficiency, nuclear type 1
Leigh syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6143498

rs_374581520

2 SubmittersRCV000281538 RCV000387593 RCV000930807

NM_002496.4(NDUFS8):c.502-13C>T

SNV
Germline

Chr11:68036449

Conflicting classifications of pathogenicity

Mitochondrial complex I deficiency, nuclear type 1
Leigh syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6146555

rs_199793417

3 SubmittersRCV000314847 RCV000369510 RCV000427186 RCV002056234

NM_004551.3(NDUFS3):c.91T>C (p.Leu31=)

SNV
Germline

Chr11:47579292

Conflicting classifications of pathogenicity

Mitochondrial complex I deficiency, nuclear type 1
Leigh syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5977804

rs_770306617

3 SubmittersRCV000301677 RCV000358793 RCV000616791 RCV003765795

NM_007103.4(NDUFV1):c.205C>T (p.Leu69=)

SNV
Germline

Chr11:67608601

Conflicting classifications of pathogenicity

Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 1
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6143111

rs_199543483

4 SubmittersRCV000284822 RCV000393780 RCV000424374 RCV000939143

NM_000891.3(KCNJ2):c.119G>A (p.Arg40Gln)

SNV
Germline

Chr17:70175158

Conflicting classifications of pathogenicity

Andersen Tawil syndrome
Atrial fibrillation, familial, 9
Short QT syndrome type 3
Condition: not provided
Short QT syndrome type 3
Andersen Tawil syndrome
Cardiovascular phenotype
SUDDEN INFANT DEATH SYNDROME
Atrial fibrillation, familial, 9
Short QT syndrome type 3
Andersen Tawil syndrome

Criteria Provided
Conflicting Classifications

CA8738692

rs_766143485

7 SubmittersRCV000308982 RCV000347359 RCV000406881 RCV000489623 RCV000795350 RCV002348069 RCV001788198 RCV002487428

NM_024407.5(NDUFS7):c.270C>T (p.Ala90=)

SNV
Germline

Chr19:1390912

Conflicting classifications of pathogenicity

Mitochondrial complex I deficiency, nuclear type 1
Condition: not provided
Leigh syndrome

Criteria Provided
Conflicting Classifications

CA9043328

rs_375120743

3 SubmittersRCV000307576 RCV000891844 RCV000405173

NM_024407.5(NDUFS7):c.561C>A (p.Ala187=)

SNV
Germline

Chr19:1395407

Conflicting classifications of pathogenicity

Mitochondrial complex I deficiency, nuclear type 1
Leigh syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10642357

rs_144570086

3 SubmittersRCV000274190 RCV000319795 RCV003765901

NM_000540.3(RYR1):c.9148G>A (p.Val3050Ile)

SNV
Germline

Chr19:38511586

Conflicting classifications of pathogenicity

Central core myopathy
Neuromuscular disease, congenital, with uniform type 1 fiber
Multiminicore myopathy
Malignant hyperthermia of anesthesia
Condition: not provided
RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA073259

rs_200797340

7 SubmittersRCV000289050 RCV000346443 RCV000381209 RCV000384648 RCV001660679 RCV000655514 RCV005018684 RCV003995872

NM_015272.5(RPGRIP1L):c.3839T>C (p.Phe1280Ser)

SNV
Germline

Chr16:53602185

Conflicting classifications of pathogenicity

Nephronophthisis 8
Joubert syndrome 7
Meckel syndrome, type 5
Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome
Inborn genetic diseases
Joubert syndrome 7
Meckel syndrome, type 5
COACH syndrome 3

Criteria Provided
Conflicting Classifications

CA8057138

rs_377402117

5 SubmittersRCV000284914 RCV000321256 RCV000385189 RCV000820913 RCV001276306 RCV003278765 RCV002504091

NM_001379500.1(COL18A1):c.1453-6G>A

SNV
Germline

Chr21:45480694

Conflicting classifications of pathogenicity

Knobloch syndrome
not specified
Condition: not provided
COL18A1-related disorder

Criteria Provided
Conflicting Classifications

CA10066351

rs_200886865

4 SubmittersRCV000333487 RCV000602020 RCV001491062 RCV004549788

NM_001379500.1(COL18A1):c.2031+9C>T

SNV
Germline

Chr21:45490355

Conflicting classifications of pathogenicity

Knobloch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10066742

rs_780751282

2 SubmittersRCV000310994 RCV002523185

NM_001379500.1(COL18A1):c.2085C>T (p.Asp695=)

SNV
Germline

Chr21:45491242

Conflicting classifications of pathogenicity

Knobloch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10644808

rs_373006940

2 SubmittersRCV000364411 RCV002057770

NM_001379500.1(COL18A1):c.2148G>A (p.Ser716=)

SNV
Germline

Chr21:45491305

Conflicting classifications of pathogenicity

Knobloch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10066829

rs_374522196

2 SubmittersRCV000329523 RCV001865238

NM_001379500.1(COL18A1):c.2380-15C>T

SNV
Germline

Chr21:45494847

Conflicting classifications of pathogenicity

Knobloch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10067058

rs_754575228

2 SubmittersRCV000282179 RCV002057772

NM_001379500.1(COL18A1):c.2577+9C>T

SNV
Germline

Chr21:45496577

Conflicting classifications of pathogenicity

Knobloch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10067186

rs_774784084

2 SubmittersRCV000352501 RCV002057773

NM_001379500.1(COL18A1):c.2683+11C>G

SNV
Germline

Chr21:45497672

Conflicting classifications of pathogenicity

Knobloch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10644820

rs_886057128

2 SubmittersRCV000301670 RCV003765967

NM_001303.4(COX10):c.*646C>G

SNV
Germline

Chr17:14207859

Conflicting classifications of pathogenicity

Leigh syndrome
Mitochondrial complex IV deficiency, nuclear type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10644889

rs_7214082

2 SubmittersRCV000347246 RCV000395029 RCV001778908

NM_001040108.2(MLH3):c.3440A>T (p.Asn1147Ile)

SNV
Germline

Chr14:75041640

Conflicting classifications of pathogenicity

Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 7
Condition: not provided
Hereditary cancer
not specified
Colorectal cancer, hereditary nonpolyposis, type 7
Colorectal cancer
Endometrial carcinoma
MLH3-related disorder

Criteria Provided
Conflicting Classifications

CA7275497

rs_142124529

10 SubmittersRCV000269033 RCV001094469 RCV002261047 RCV004701405 RCV003321583 RCV005396946 RCV004751455

NM_015272.5(RPGRIP1L):c.2682A>G (p.Ser894=)

SNV
Germline

Chr16:53645626

Conflicting classifications of pathogenicity

Nephronophthisis 8
Joubert syndrome 7
Meckel syndrome, type 5
Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome
Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3

Criteria Provided
Conflicting Classifications

CA8057500

rs_141608712

8 SubmittersRCV000283664 RCV000341038 RCV000380415 RCV000996271 RCV001243917 RCV001271326 RCV005010283

NM_015272.5(RPGRIP1L):c.1085A>G (p.Tyr362Cys)

SNV
Germline

Chr16:53671528

Conflicting classifications of pathogenicity

Meckel syndrome, type 5
Joubert syndrome 7
Nephronophthisis 8
Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome
Joubert syndrome 7
Meckel syndrome, type 5
COACH syndrome 3
Inborn genetic diseases
RPGRIP1L-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8057930

rs_144023021

7 SubmittersRCV000272277 RCV000308698 RCV000362256 RCV001239253 RCV001828320 RCV002487410 RCV004021665 RCV004537802 RCV005241353

NM_015272.5(RPGRIP1L):c.251G>A (p.Arg84Gln)

SNV
Germline

Chr16:53692344

Conflicting classifications of pathogenicity

Joubert syndrome 7
Nephronophthisis 8
Meckel-Gruber syndrome
Joubert syndrome
Meckel syndrome, type 5
Joubert syndrome 7
Meckel syndrome, type 5
COACH syndrome 1
Condition: not provided
Joubert syndrome
RPGRIP1L-related disorder

Criteria Provided
Conflicting Classifications

CA8058159

rs_151212590

7 SubmittersRCV000310412 RCV000346684 RCV000464407 RCV000398312 RCV000765298 RCV001562186 RCV001828321 RCV004537804

NM_015272.5(RPGRIP1L):c.171G>T (p.Leu57Phe)

SNV
Germline

Chr16:53696210

Conflicting classifications of pathogenicity

Joubert syndrome 7
Meckel syndrome, type 5
Nephronophthisis 8
Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA8058197

rs_146925098

8 SubmittersRCV000262935 RCV000298218 RCV000353091 RCV000489212 RCV001081628 RCV005016706 RCV004816559

NM_001303.4(COX10):c.624+4A>G

SNV
Germline

Chr17:14102246

Conflicting classifications of pathogenicity

Leigh syndrome
Mitochondrial complex IV deficiency, nuclear type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8402373

rs_199668725

6 SubmittersRCV000288666 RCV000343670 RCV000829183

NM_001303.4(COX10):c.-24G>A

SNV
Germline

Chr17:14069582

Conflicting classifications of pathogenicity

Leigh syndrome
Mitochondrial complex IV deficiency, nuclear type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8402192

rs_201257809

2 SubmittersRCV000279297 RCV000373740 RCV000827262

NM_001303.4(COX10):c.192G>A (p.Leu64=)

SNV
Germline

Chr17:14076749

Conflicting classifications of pathogenicity

Mitochondrial complex IV deficiency, nuclear type 1
Leigh syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8402269

rs_569444237

3 SubmittersRCV000262578 RCV000357092 RCV002522914

NM_001303.4(COX10):c.909C>T (p.Ala303=)

SNV
Germline

Chr17:14192202

Conflicting classifications of pathogenicity

Mitochondrial complex IV deficiency, nuclear type 1
Leigh syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8402460

rs_370260574

2 SubmittersRCV000349796 RCV000398956 RCV001636907

NM_001379500.1(COL18A1):c.1044G>A (p.Pro348=)

SNV
Germline

Chr21:45477788

Conflicting classifications of pathogenicity

Knobloch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10650623

rs_886057122

2 SubmittersRCV000291371 RCV002057764

NM_001379500.1(COL18A1):c.1659G>A (p.Gly553=)

SNV
Germline

Chr21:45482010

Conflicting classifications of pathogenicity

Knobloch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10066438

rs_768751253

2 SubmittersRCV000384724 RCV002057766

NM_001379500.1(COL18A1):c.2187+7G>C

SNV
Germline

Chr21:45492571

Conflicting classifications of pathogenicity

Knobloch syndrome
Condition: not provided
COL18A1-related disorder

Criteria Provided
Conflicting Classifications

CA10066879

rs_369701764

3 SubmittersRCV000266078 RCV002057771 RCV004549792

NM_001379500.1(COL18A1):c.2478G>A (p.Pro826=)

SNV
Germline

Chr21:45495402

Conflicting classifications of pathogenicity

Knobloch syndrome
Condition: not provided
COL18A1-related disorder

Criteria Provided
Conflicting Classifications

CA10067115

rs_369390092

3 SubmittersRCV000314085 RCV001517072 RCV004549793

NM_001379500.1(COL18A1):c.2578-12C>T

SNV
Germline

Chr21:45497038

Conflicting classifications of pathogenicity

Knobloch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10067210

rs_201057172

2 SubmittersRCV000390753 RCV002057774

NM_024407.5(NDUFS7):c.21T>C (p.Pro7=)

SNV
Germline

Chr19:1387815

Conflicting classifications of pathogenicity

Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9043014

rs_201222388

2 SubmittersRCV000287249 RCV000400936 RCV003556343

NM_001379500.1(COL18A1):c.691G>A (p.Val231Met)

SNV
Germline

Chr21:45473934

Conflicting classifications of pathogenicity

Knobloch syndrome
Condition: not provided
COL18A1-related disorder

Criteria Provided
Conflicting Classifications

CA10065850

rs_202012055

4 SubmittersRCV000309460 RCV001398377 RCV004549780

NM_001379500.1(COL18A1):c.693G>A (p.Val231=)

SNV
Germline

Chr21:45473936

Conflicting classifications of pathogenicity

Knobloch syndrome
Condition: not provided
COL18A1-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10065852

rs_149772252

5 SubmittersRCV000359642 RCV001513049 RCV004549781 RCV005540064

NM_001379500.1(COL18A1):c.801C>T (p.Gly267=)

SNV
Germline

Chr21:45476353

Conflicting classifications of pathogenicity

Knobloch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10065936

rs_145912433

3 SubmittersRCV000375708 RCV002057762

NM_001379500.1(COL18A1):c.1059G>A (p.Arg353=)

SNV
Germline

Chr21:45477803

Conflicting classifications of pathogenicity

Knobloch syndrome
COL18A1-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10653042

rs_886057123

3 SubmittersRCV000346318 RCV004549786 RCV002057765

NM_001379500.1(COL18A1):c.1760C>T (p.Ala587Val)

SNV
Germline

Chr21:45486919

Conflicting classifications of pathogenicity

Knobloch syndrome
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10066533

rs_199823547

3 SubmittersRCV000287059 RCV001351474 RCV002523184

NM_001379500.1(COL18A1):c.2047A>C (p.Arg683=)

SNV
Germline

Chr21:45490851

Conflicting classifications of pathogenicity

Knobloch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10653046

rs_886057127

2 SubmittersRCV000326015 RCV002057769

NM_001379500.1(COL18A1):c.2434-8C>T

SNV
Germline

Chr21:45495350

Conflicting classifications of pathogenicity

Knobloch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10067101

rs_367814420

2 SubmittersRCV000403656 RCV002520038

NM_001379500.1(COL18A1):c.2815G>A (p.Gly939Ser)

SNV
Germline

Chr21:45504503

Conflicting classifications of pathogenicity

Knobloch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10067482

rs_753363173

2 SubmittersRCV000375403 RCV001861181

NM_001379500.1(COL18A1):c.2899C>T (p.Pro967Ser)

SNV
Germline

Chr21:45505164

Conflicting classifications of pathogenicity

Inborn genetic diseases
Knobloch syndrome

Criteria Provided
Conflicting Classifications

CA10067545

rs_761528498

2 SubmittersRCV002523186 RCV000387981

NM_001379500.1(COL18A1):c.3682G>A (p.Val1228Ile)

SNV
Germline

Chr21:45510250

Conflicting classifications of pathogenicity

Knobloch syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10068005

rs_750065884

3 SubmittersRCV000260062 RCV005238928 RCV001861184

NM_001379500.1(COL18A1):c.714C>T (p.Asp238=)

SNV
Germline

Chr21:45473957

Conflicting classifications of pathogenicity

Knobloch syndrome
COL18A1-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10065854

rs_369721525

4 SubmittersRCV000264942 RCV004549782 RCV002057760

NM_001379500.1(COL18A1):c.996C>T (p.Arg332=)

SNV
Germline

Chr21:45477478

Conflicting classifications of pathogenicity

Knobloch syndrome
Condition: not provided
COL18A1-related disorder

Criteria Provided
Conflicting Classifications

CA10066043

rs_530808102

3 SubmittersRCV000345057 RCV002057763 RCV004549785

NM_001379500.1(COL18A1):c.1707C>T (p.Ser569=)

SNV
Germline

Chr21:45486866

Conflicting classifications of pathogenicity

Knobloch syndrome
Condition: not provided
COL18A1-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA10066530

rs_559725056

4 SubmittersRCV000407209 RCV001460838 RCV004549790 RCV004800390

NM_001379500.1(COL18A1):c.1938G>T (p.Val646=)

SNV
Germline

Chr21:45489500

Conflicting classifications of pathogenicity

Knobloch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10653679

rs_886057125

2 SubmittersRCV000405829 RCV002057767

NM_001379500.1(COL18A1):c.1986C>T (p.Pro662=)

SNV
Germline

Chr21:45490301

Conflicting classifications of pathogenicity

Condition: not provided
Knobloch syndrome

Criteria Provided
Conflicting Classifications

CA10066732

rs_754862849

2 SubmittersRCV002057768 RCV000395837

NM_006941.4(SOX10):c.906G>A (p.Pro302=)

SNV
Germline

Chr22:37973990

Conflicting classifications of pathogenicity

PCWH syndrome
Waardenburg syndrome
SOX10-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA10228571

rs_774324385

3 SubmittersRCV000333976 RCV000381610 RCV004737452 RCV005407070

NM_006941.4(SOX10):c.753G>A (p.Ser251=)

SNV
Germline

Chr22:37974143

Conflicting classifications of pathogenicity

Waardenburg syndrome
PCWH syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10228593

rs_376907937

6 SubmittersRCV000289683 RCV000328321 RCV000616999 RCV000728071

NM_000251.3(MSH2):c.806C>A (p.Ser269Ter)

SNV
Germline

Chr2:47414282

Pathogenic

Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA16042056

rs_63750058

4 SubmittersRCV000411532 RCV002418232 RCV001861407

NM_000251.3(MSH2):c.1510+11G>C

SNV
Germline

Chr2:47463165

Conflicting classifications of pathogenicity

Lynch syndrome 1
not specified
Endometrial carcinoma
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided

Criteria Provided
Conflicting Classifications

CA029000

rs_370675562

6 SubmittersRCV000410661 RCV000442358 RCV001356660 RCV000579684 RCV002058850 RCV003237837

NM_000251.3(MSH2):c.1760-16T>G

SNV
Germline

Chr2:47475009

Conflicting classifications of pathogenicity

Lynch syndrome 1
not specified
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA030937

rs_768370188

6 SubmittersRCV000409284 RCV000424699 RCV000774574 RCV002058848

NM_000179.3(MSH6):c.-6G>C

SNV
Germline

Chr2:47783228

Conflicting classifications of pathogenicity

Lynch syndrome 5
Condition: not provided
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
not specified
MSH6-related disorder

Criteria Provided
Conflicting Classifications

CA073358

rs_730881822

7 SubmittersRCV000409841 RCV001584107 RCV000583102 RCV001355925 RCV002509378 RCV004739712

NM_000179.3(MSH6):c.941G>A (p.Ser314Asn)

SNV
Germline

Chr2:47798924

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA073598

rs_760100983

5 SubmittersRCV000576046 RCV000410264 RCV001361344

NM_000179.3(MSH6):c.3173-12C>T

SNV
Germline

Chr2:47803408

Conflicting classifications of pathogenicity

Lynch syndrome 5
Hereditary cancer-predisposing syndrome
not specified
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA16042060

rs_1057517629

7 SubmittersRCV000409332 RCV000583965 RCV000616287 RCV002058852 RCV005355698

NM_000249.4(MLH1):c.454-1G>C

SNV
Germline

Chr3:37008813

Pathogenic/Likely pathogenic

Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16042068

rs_193922370

4 SubmittersRCV000410339 RCV000472090 RCV000684811 RCV000568411

NM_000249.4(MLH1):c.1219C>T (p.Gln407Ter)

SNV
Germline

Chr3:37025817

Pathogenic

Colorectal cancer, hereditary nonpolyposis, type 2
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colon cancer
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16042072

rs_1057517541

12 SubmittersRCV000411311 RCV000486818 RCV000684819 RCV001183269 RCV001731666 RCV003995908

NM_004168.4(SDHA):c.-7A>C

SNV
Germline

Chr5:218349

Conflicting classifications of pathogenicity

Pheochromocytoma/paraganglioma syndrome 5
not specified
Condition: not provided
Leigh syndrome
Pheochromocytoma/paraganglioma syndrome 5
Mitochondrial complex II deficiency, nuclear type 1
Hereditary cancer-predisposing syndrome
Mitochondrial complex II deficiency, nuclear type 1
Hereditary pheochromocytoma-paraganglioma

Criteria Provided
Conflicting Classifications

CA3172666

rs_751633537

15 SubmittersRCV000411889 RCV000425129 RCV000756629 RCV001151933 RCV000649475 RCV002255377 RCV001151931 RCV001151932

NM_004168.4(SDHA):c.1055G>A (p.Arg352Gln)

SNV
Germline

Chr5:233636

Conflicting classifications of pathogenicity

Pheochromocytoma/paraganglioma syndrome 5
Hereditary cancer-predisposing syndrome
Dilated cardiomyopathy 1GG
Pheochromocytoma/paraganglioma syndrome 5
Leigh syndrome
Mitochondrial complex II deficiency, nuclear type 1
Pheochromocytoma/paraganglioma syndrome 5
Mitochondrial complex II deficiency, nuclear type 1
Condition: not provided
Hereditary pheochromocytoma-paraganglioma
Leigh syndrome
Mitochondrial complex II deficiency, nuclear type 1
Dilated cardiomyopathy 1GG
Pheochromocytoma/paraganglioma syndrome 5
Mitochondrial complex II deficiency, nuclear type 1
Dilated cardiomyopathy 1GG
Neurodegeneration with ataxia and late-onset optic atrophy
Pheochromocytoma/paraganglioma syndrome 5
Mitochondrial complex II deficiency, nuclear type 1
Dilated cardiomyopathy 1GG

Criteria Provided
Conflicting Classifications

CA3173073

rs_199844384

13 SubmittersRCV000411606 RCV000563279 RCV000765832 RCV000463749 RCV000498298 RCV001153526 RCV001153527 RCV001153528 RCV003483608 RCV005033927 RCV003475997

NM_022552.5(DNMT3A):c.2711C>T (p.Pro904Leu)

SNV
Germline/somatic

Chr2:25234307

Pathogenic/Likely pathogenic

Condition: not provided
Tatton-Brown-Rahman overgrowth syndrome
Autism spectrum disorder
EBV-positive nodal T- and NK-cell lymphoma
Tatton-Brown-Rahman overgrowth syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA1555464

rs_149095705

5 SubmittersRCV000413992 RCV003233631 RCV004559047 RCV004725203

NM_014159.7(SETD2):c.4376G>A (p.Arg1459Gln)

SNV
Germline

Chr3:47120260

Conflicting classifications of pathogenicity

not specified
Luscan-Lumish syndrome
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2363224

rs_777992018

7 SubmittersRCV000414404 RCV001064806 RCV004696908 RCV004965448

NM_000179.3(MSH6):c.3449T>A (p.Leu1150Ter)

SNV
Germline

Chr2:47804920

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Endometrial carcinoma
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA16042488

rs_1057517763

6 SubmittersRCV000413022 RCV000575337 RCV003470357 RCV000527691 RCV003449031

NM_003172.4(SURF1):c.751+5G>A

SNV
Germline

Chr9:133352441

Conflicting classifications of pathogenicity

Condition: not provided
Cerebellar ataxia
Abnormal pyramidal sign
Muscle weakness
Dysarthria
not specified
Mitochondrial complex IV deficiency, nuclear type 1
Leigh syndrome
Charcot-Marie-Tooth disease type 4K
Mitochondrial complex IV deficiency, nuclear type 1

Criteria Provided
Conflicting Classifications

CA16042683

rs_781934508

6 SubmittersRCV000413105 RCV000626843 RCV005238967 RCV002283477 RCV002523941 RCV005044629

NM_007103.4(NDUFV1):c.1162+4A>C

SNV
Germline

Chr11:67611982

Pathogenic/Likely pathogenic

Mitochondrial complex I deficiency, nuclear type 4
Condition: not provided
Mitochondrial complex I deficiency, nuclear type 1
Leigh syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA6143415

rs_199683937

5 SubmittersRCV000015104 RCV000414504 RCV000763270 RCV001778956

NM_000377.3(WAS):c.777+1G>A

SNV
Germline

ChrX:48688097

Pathogenic

Condition: not provided
X-linked severe congenital neutropenia
Thrombocytopenia 1
Wiskott-Aldrich syndrome
Thrombocytopenia 1
Wiskott-Aldrich syndrome
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA16043277

rs_1057517845

6 SubmittersRCV000413782 RCV000461952 RCV003137992 RCV001290558 RCV004022160

NM_000377.3(WAS):c.559+5G>A

SNV
Germline

ChrX:48686139

Pathogenic

Condition: not provided
X-linked severe congenital neutropenia
Thrombocytopenia 1
Wiskott-Aldrich syndrome
Wiskott-Aldrich syndrome
Thrombocytopenia 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16043320

rs_886039451

5 SubmittersRCV000413138 RCV001390443 RCV001810445 RCV001810446

NM_000540.3(RYR1):c.8463G>A (p.Trp2821Ter)

SNV
Germline

Chr19:38505868

Pathogenic

Myopathy
Malignant hyperthermia, susceptibility to, 1
RYR1-related disorder
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16043556

rs_1057518773

5 SubmittersRCV000415002 RCV003995931 RCV001861443 RCV005018713

NM_004958.4(MTOR):c.4447T>C (p.Cys1483Arg)

SNV
Germline/somatic

Chr1:11157174

Pathogenic

Hemimegalencephaly
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes

Reviewed By Expert Panel

CA16602264

rs_1057519914

2 SubmittersRCV000494705 RCV001836813

NM_003242.6(TGFBR2):c.1015C>T (p.Arg339Trp)

SNV
Germline

Chr3:30672198

Conflicting classifications of pathogenicity

Lynch syndrome
Loeys-Dietz syndrome
not specified
Condition: not provided
Malignant tumor of esophagus
Loeys-Dietz syndrome 2
Colorectal cancer, hereditary nonpolyposis, type 6
Familial thoracic aortic aneurysm and aortic dissection
TGFBR2-related disorder

Criteria Provided
Conflicting Classifications

CA045395

rs_761991787

10 SubmittersRCV000415648 RCV000415679 RCV000781901 RCV001310482 RCV000765723 RCV000809777 RCV003902462

NM_022552.5(DNMT3A):c.2645G>A (p.Arg882His)

SNV
Germline/somatic

Chr2:25234373

Pathogenic/Likely pathogenic

Tatton-Brown-Rahman overgrowth syndrome
Condition: not provided
Acute myeloid leukemia
Clonal Cytopenia of Undetermined Significance
Abnormality of the nervous system
not specified
Intellectual disability
DNMT3A-related disorder
Inborn genetic diseases
Neoplasm
EBV-positive nodal T- and NK-cell lymphoma

Criteria Provided
Multiple Submitters
No Conflicts

CA1555488

rs_147001633

18 SubmittersRCV000524775 RCV000485343 RCV000430182 RCV003153242 RCV001814155 RCV002248654 RCV004017608 RCV004545768 RCV000623601 RCV004668919 RCV004559051

NM_022552.5(DNMT3A):c.2644C>T (p.Arg882Cys)

SNV
Germline/somatic

Chr2:25234374

Pathogenic

Acute myeloid leukemia
Condition: not provided
Tatton-Brown-Rahman overgrowth syndrome
Inborn genetic diseases
Neurodevelopmental disorder
EBV-positive nodal T- and NK-cell lymphoma
DNMT3A-related disorder
Neoplasm

Criteria Provided
Multiple Submitters
No Conflicts

CA1555491

rs_377577594

15 SubmittersRCV000429128 RCV001552894 RCV000590987 RCV001267371 RCV001374980 RCV004559052 RCV004745372 RCV005230283

NM_022552.5(DNMT3A):c.2644C>A (p.Arg882Ser)

SNV
Germline

Chr2:25234374

Conflicting classifications of pathogenicity

Condition: not provided
Tatton-Brown-Rahman overgrowth syndrome

Criteria Provided
Conflicting Classifications

CA16602367

rs_377577594

2 SubmittersRCV001782899 RCV003766178

NM_006218.4(PIK3CA):c.1637A>C (p.Gln546Pro)

SNV
Somatic

Chr3:179218307

Pathogenic

Ovarian neoplasm
PIK3CA related overgrowth syndrome
Neoplasm

Criteria Provided
Single Submitter

CA16602381

rs_397517201

3 SubmittersRCV000785567 RCV004719812 RCV005230286

NM_006218.4(PIK3CA):c.1637A>T (p.Gln546Leu)

SNV
Somatic

Chr3:179218307

Likely pathogenic

PIK3CA related overgrowth syndrome

Criteria Provided
Single Submitter

rs_397517201

1 SubmittersRCV005251518

NM_006218.4(PIK3CA):c.263G>A (p.Arg88Gln)

SNV
Germline/somatic

Chr3:179199088

Pathogenic

Ovarian neoplasm
Cowden syndrome
Condition: not provided
PIK3CA related overgrowth syndrome
Abnormal cerebral morphology
Megalencephaly-capillary malformation-polymicrogyria syndrome
Cowden syndrome 5
Neoplasm
CLOVES syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16602516

rs_121913287

11 SubmittersRCV000785354 RCV001224952 RCV001562650 RCV002274026 RCV002275002 RCV003225067 RCV003995942 RCV004668930 RCV004767253

NM_006218.4(PIK3CA):c.1035T>A (p.Asn345Lys)

SNV
Germline/somatic

Chr3:179203765

Pathogenic

PIK3CA related overgrowth syndrome
Abnormal cardiovascular system morphology
Condition: not provided
13 conditions
Neoplasm

Criteria Provided
Multiple Submitters
No Conflicts

CA16602517

rs_121913284

5 SubmittersRCV003458198 RCV001327959 RCV001172158 RCV002502454 RCV005230292

NM_004958.4(MTOR):c.6644C>A (p.Ser2215Tyr)

SNV
Germline/somatic

Chr1:11124516

Pathogenic

Isolated focal cortical dysplasia type II
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes

Reviewed By Expert Panel

CA16602587

rs_587777894

2 SubmittersRCV000477715 RCV001836814

NM_004958.4(MTOR):c.4379T>C (p.Leu1460Pro)

SNV
Germline/somatic

Chr1:11157242

Pathogenic

Isolated focal cortical dysplasia type II
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes

Reviewed By Expert Panel

CA16602588

rs_1057519779

3 SubmittersRCV000477729 RCV001836815

NM_004958.4(MTOR):c.4448G>A (p.Cys1483Tyr)

SNV
Germline/somatic

Chr1:11157173

Pathogenic

CEBALID syndrome
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
Condition: not provided
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome

Reviewed By Expert Panel

CA16602888

rs_786205165

4 SubmittersRCV001260505 RCV001836816 RCV001861478 RCV003992287

NM_006218.4(PIK3CA):c.1357G>A (p.Glu453Lys)

SNV
Germline/somatic

Chr3:179210291

Pathogenic

Ovarian neoplasm
Megalencephaly-capillary malformation-polymicrogyria syndrome
CLOVES syndrome
Abnormal cardiovascular system morphology
Condition: not provided
Cowden syndrome
PIK3CA-related disorder
PIK3CA related overgrowth syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16602904

rs_1057519925

13 SubmittersRCV000785580 RCV000991209 RCV001526693 RCV001327961 RCV001775789 RCV001861479 RCV002244865 RCV002472374

NM_006218.4(PIK3CA):c.2176G>A (p.Glu726Lys)

SNV
Germline/somatic

Chr3:179221146

Pathogenic

Inborn genetic diseases
Condition: not provided
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
Cowden syndrome
PIK3CA related overgrowth syndrome
Megalencephaly-capillary malformation-polymicrogyria syndrome

Reviewed By Expert Panel

CA16602910

rs_867262025

10 SubmittersRCV000624735 RCV000484330 RCV001836817 RCV001851018 RCV003233633 RCV003152707

NM_006218.4(PIK3CA):c.241G>A (p.Glu81Lys)

SNV
Germline/somatic

Chr3:179199066

Pathogenic

Abnormal cardiovascular system morphology
Megalencephaly-capillary malformation-polymicrogyria syndrome
CLOVES syndrome
Condition: not provided
Cowden syndrome
PIK3CA related overgrowth syndrome
Neoplasm

Criteria Provided
Multiple Submitters
No Conflicts

CA16602912

rs_1057519929

8 SubmittersRCV001327958 RCV001542570 RCV001526599 RCV001837893 RCV002524695 RCV003458199 RCV005230297

NM_006218.4(PIK3CA):c.317G>T (p.Gly106Val)

SNV
Germline/somatic

Chr3:179199142

Conflicting classifications of pathogenicity

Cowden syndrome
CLOVES syndrome
PIK3CA related overgrowth syndrome

Criteria Provided
Conflicting Classifications

CA16602913

rs_1057519930

3 SubmittersRCV000631208 RCV001526649 RCV004719813

NM_006218.4(PIK3CA):c.331A>G (p.Lys111Glu)

SNV
Somatic

Chr3:179199156

Conflicting classifications of pathogenicity

Cowden syndrome 5
PIK3CA related overgrowth syndrome

Criteria Provided
Conflicting Classifications

CA16602916

rs_1057519933

2 SubmittersRCV003147452 RCV005251125

NM_006218.4(PIK3CA):c.113G>A (p.Arg38His)

SNV
Germline/somatic

Chr3:179198938

Likely pathogenic

Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
Neoplasm

Criteria Provided
Single Submitter

CA2710498

rs_772110575

2 SubmittersRCV003993951 RCV004668950

NM_006218.4(PIK3CA):c.1030G>A (p.Val344Met)

SNV
Germline

Chr3:179203760

Pathogenic

Condition: not provided
Cowden syndrome 5
Megalencephaly, autosomal dominant
Diaphragmatic eventration
Hypertelorism
Abnormality of the hairline
Intestinal duplication
Cowden syndrome
Inborn genetic diseases
PIK3CA related overgrowth syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16602930

rs_1057519942

9 SubmittersRCV000485942 RCV000767535 RCV000852337 RCV000631216 RCV004955473 RCV003985084

NM_022552.5(DNMT3A):c.1684T>C (p.Cys562Arg)

SNV
Germline

Chr2:25244322

Conflicting classifications of pathogenicity

Condition: not provided
Tatton-Brown-Rahman overgrowth syndrome

Criteria Provided
Conflicting Classifications

CA16604098

rs_1057520788

2 SubmittersRCV000439792 RCV000536842

NM_005006.7(NDUFS1):c.611T>C (p.Met204Thr)

SNV
Germline

Chr2:206147029

Conflicting classifications of pathogenicity

not specified
Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 1
NDUFS1-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2070717

rs_148544177

4 SubmittersRCV000419653 RCV001138898 RCV001138899 RCV003950361 RCV002061445

NM_001079866.2(BCS1L):c.385G>A (p.Gly129Arg)

SNV
Germline

Chr2:218661470

Pathogenic/Likely pathogenic

Condition: not provided
Leigh syndrome
Mitochondrial complex III deficiency nuclear type 1
GRACILE syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16604118

rs_1057521059

6 SubmittersRCV000432529 RCV001329213 RCV002285017 RCV004798833

NM_001079866.2(BCS1L):c.171C>T (p.Asp57=)

SNV
Germline

Chr2:218661158

Conflicting classifications of pathogenicity

not specified
GRACILE syndrome
Leigh syndrome
Mitochondrial complex III deficiency nuclear type 1
Condition: not provided
BCS1L-related disorder

Criteria Provided
Conflicting Classifications

CA2109614

rs_756932413

4 SubmittersRCV000432338 RCV001140854 RCV001140856 RCV001140855 RCV001484726 RCV004539801

NM_000251.3(MSH2):c.2277A>G (p.Gly759=)

SNV
Germline

Chr2:47478338

Conflicting classifications of pathogenicity

not specified
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA16604163

rs_1057520316

6 SubmittersRCV000427595 RCV000467973 RCV000570352 RCV003995967 RCV005246939

NM_000179.3(MSH6):c.-12C>G

SNV
Germline

Chr2:47783222

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Lynch syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA067463

rs_766407370

6 SubmittersRCV000443454 RCV000580863 RCV003996067 RCV005355733

NM_000179.3(MSH6):c.3015A>G (p.Arg1005=)

SNV
Germline

Chr2:47800998

Conflicting classifications of pathogenicity

not specified
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA16604192

rs_990650403

9 SubmittersRCV000425690 RCV000466030 RCV000574172 RCV001721359 RCV004000498 RCV005421777

NM_000251.3(MSH2):c.943-5A>T

SNV
Germline

Chr2:47416291

Conflicting classifications of pathogenicity

not specified
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA16604233

rs_1057521671

4 SubmittersRCV000429206 RCV002521643 RCV003362782 RCV005246973

NM_000251.3(MSH2):c.1294T>C (p.Leu432=)

SNV
Germline

Chr2:47445565

Conflicting classifications of pathogenicity

not specified
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA16604243

rs_937218360

5 SubmittersRCV000440489 RCV000536595 RCV002379343 RCV005246983

NM_000251.3(MSH2):c.6G>C (p.Ala2=)

SNV
Germline

Chr2:47403197

Conflicting classifications of pathogenicity

not specified
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
MSH2-related disorder
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA040101

rs_368270856

11 SubmittersRCV000435277 RCV000474559 RCV001171948 RCV000566649 RCV004530564 RCV005246950 RCV003996035

NM_000251.3(MSH2):c.2459-12A>C

SNV
Germline

Chr2:47480684

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA035982

rs_267608012

5 SubmittersRCV001181938 RCV001721391 RCV002063486 RCV005247010

NM_000251.3(MSH2):c.669G>A (p.Leu223=)

SNV
Germline

Chr2:47412437

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA039993

rs_751195930

6 SubmittersRCV000553928 RCV000564734 RCV001139362 RCV001712362

NM_000179.3(MSH6):c.216C>G (p.Leu72=)

SNV
Germline

Chr2:47783449

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA16604264

rs_963404377

5 SubmittersRCV000869324 RCV001821184 RCV001487495 RCV002418292 RCV005425976

NM_000251.3(MSH2):c.2458+4T>C

SNV
Germline

Chr2:47478523

Conflicting classifications of pathogenicity

not specified
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16604275

rs_1038735071

6 SubmittersRCV000431124 RCV000630059 RCV000574853 RCV004000450 RCV001712259

NM_000179.3(MSH6):c.856G>T (p.Glu286Ter)

SNV
Germline

Chr2:47798839

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA16604278

rs_1057520605

5 SubmittersRCV000441289 RCV002411309 RCV003449054 RCV002521554 RCV003463828

NM_000179.3(MSH6):c.260+7G>A

SNV
Germline

Chr2:47783500

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA069290

rs_774479750

7 SubmittersRCV000582801 RCV000679227 RCV001081272 RCV000438252 RCV005420977

NM_000179.3(MSH6):c.1200G>A (p.Glu400=)

SNV
Germline

Chr2:47799183

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome
Endometrial carcinoma
Mismatch repair cancer syndrome 3
Lynch syndrome 5
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA067322

rs_536884553

8 SubmittersRCV000458705 RCV000491492 RCV001704351 RCV004000461 RCV005398550 RCV005421763

NM_005006.7(NDUFS1):c.1062C>T (p.Leu354=)

SNV
Germline

Chr2:206142757

Conflicting classifications of pathogenicity

not specified
Mitochondrial complex I deficiency, nuclear type 1
Leigh syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2070575

rs_112026097

3 SubmittersRCV000429059 RCV001143219 RCV001143220 RCV001512828

NM_001079866.2(BCS1L):c.771G>A (p.Thr257=)

SNV
Germline

Chr2:218662561

Conflicting classifications of pathogenicity

not specified
Condition: not provided
GRACILE syndrome
Mitochondrial complex III deficiency nuclear type 1
Leigh syndrome
BCS1L-related disorder

Criteria Provided
Conflicting Classifications

CA2109755

rs_148302981

4 SubmittersRCV000438295 RCV002521706 RCV001138378 RCV001138379 RCV001138380 RCV004539845

NM_000251.3(MSH2):c.1761C>G (p.Gly587=)

SNV
Germline

Chr2:47475026

Conflicting classifications of pathogenicity

not specified
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA16604543

rs_920449426

6 SubmittersRCV000424515 RCV000557995 RCV001013070 RCV003996064 RCV005246958

NM_000251.3(MSH2):c.2027C>G (p.Ser676Ter)

SNV
Germline

Chr2:47476388

Pathogenic

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16604545

rs_1057520735

5 SubmittersRCV000438851 RCV001037819 RCV002418262 RCV003449056

NM_000249.4(MLH1):c.1872C>T (p.Asp624=)

SNV
Germline

Chr3:37047659

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Conflicting Classifications

CA031127

rs_145535636

9 SubmittersRCV000430377 RCV000572236 RCV000476999 RCV001498345 RCV004000532 RCV005247014

NM_000179.3(MSH6):c.-1T>C

SNV
Germline

Chr2:47783233

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA16604564

rs_1057522403

4 SubmittersRCV000431505 RCV001013988 RCV004000443

NM_000179.3(MSH6):c.457+7G>C

SNV
Germline

Chr2:47791130

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA072976

rs_781280171

7 SubmittersRCV000425768 RCV000580489 RCV000467549 RCV005420976 RCV003477916

NM_000179.3(MSH6):c.2101T>C (p.Leu701=)

SNV
Germline

Chr2:47800084

Conflicting classifications of pathogenicity

not specified
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA16604586

rs_1057523503

5 SubmittersRCV000426042 RCV000537085 RCV000572634 RCV002480318 RCV005426004

NM_014159.7(SETD2):c.5218C>T (p.Arg1740Trp)

SNV
Germline

Chr3:47088172

Pathogenic/Likely pathogenic

Condition: not provided
Luscan-Lumish syndrome
Corpus callosum, agenesis of
Cerebellar vermis hypoplasia
Luscan-Lumish syndrome
Inborn genetic diseases
Congenital cerebellar hypoplasia
SETD2-related disorder
Rabin-Pappas syndrome
SETD2 associated neurodevelopmental disorder with multiple congenital anomalies

Criteria Provided
Multiple Submitters
No Conflicts

CA16604601

rs_1057523157

14 SubmittersRCV000426759 RCV000779643 RCV000853394 RCV001267453 RCV001258009 RCV001267684 RCV002467447 RCV004554776

NM_001378615.1(CC2D2A):c.3135G>A (p.Val1045=)

SNV
Germline

Chr4:15563475

Conflicting classifications of pathogenicity

Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
Meckel syndrome, type 6
Joubert syndrome 9
COACH syndrome 1
Meckel syndrome, type 6
Joubert syndrome 9
Retinitis pigmentosa 93
COACH syndrome 2

Criteria Provided
Conflicting Classifications

CA2864082

rs_371608031

4 SubmittersRCV000442925 RCV001402263 RCV000765760 RCV005027492

NM_001378615.1(CC2D2A):c.380G>A (p.Arg127Gln)

SNV
Germline

Chr4:15502865

Conflicting classifications of pathogenicity

Condition: not provided
Meckel syndrome, type 6
Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome 9
CC2D2A-related disorder
COACH syndrome 2
Meckel syndrome, type 6
Joubert syndrome 9
Retinitis pigmentosa 93

Criteria Provided
Conflicting Classifications

CA2863395

rs_748886997

5 SubmittersRCV000424373 RCV001147864 RCV002063654 RCV001147863 RCV004732884 RCV005033960

NM_001378615.1(CC2D2A):c.3014+4A>C

SNV
Germline

Chr4:15560626

Conflicting classifications of pathogenicity

not specified
Joubert syndrome
Meckel-Gruber syndrome
CC2D2A-related disorder
COACH syndrome 2
Meckel syndrome, type 6
Joubert syndrome 9
Retinitis pigmentosa 93
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2864050

rs_748451478

5 SubmittersRCV000435852 RCV000524961 RCV004533116 RCV005033954 RCV002522611

NM_002495.4(NDUFS4):c.150A>G (p.Thr50=)

SNV
Germline

Chr5:53603503

Conflicting classifications of pathogenicity

Condition: not provided
Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 1

Criteria Provided
Conflicting Classifications

CA3264190

rs_142368721

3 SubmittersRCV000906096 RCV001157095 RCV001157096

NM_000108.5(DLD):c.321A>G (p.Ala107=)

SNV
Germline

Chr7:107903531

Conflicting classifications of pathogenicity

Leigh syndrome
Pyruvate dehydrogenase E3 deficiency
Pyruvate dehydrogenase complex deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4434418

rs_138398782

4 SubmittersRCV001160216 RCV000898845 RCV001163571 RCV001703709

NM_000535.7(PMS2):c.2217G>A (p.Leu739=)

SNV
Germline

Chr7:5978654

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
not specified
Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA16605114

rs_752718686

5 SubmittersRCV000558212 RCV000427777 RCV001014779 RCV005425965

NM_000535.7(PMS2):c.2140C>T (p.Gln714Ter)

SNV
Germline

Chr7:5982858

Pathogenic

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA16605116

rs_1057524433

4 SubmittersRCV000428147 RCV000535164 RCV002429459 RCV003449097

NM_000535.7(PMS2):c.353+3G>A

SNV
Germline

Chr7:6003687

Conflicting classifications of pathogenicity

not specified
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA049358

rs_766373982

8 SubmittersRCV000425644 RCV001211500 RCV004000433 RCV002258890 RCV004999400 RCV005421750

NM_000535.7(PMS2):c.1376C>G (p.Ser459Ter)

SNV
Germline

Chr7:5987389

Pathogenic

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Mismatch repair cancer syndrome 1
Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA16605348

rs_587780724

7 SubmittersRCV000439409 RCV000629760 RCV000985175 RCV001011228 RCV003449099

NM_004168.4(SDHA):c.895+13G>A

SNV
Germline

Chr5:231013

Conflicting classifications of pathogenicity

not specified
Pheochromocytoma/paraganglioma syndrome 5
Hereditary cancer-predisposing syndrome
Leigh syndrome
Hereditary pheochromocytoma-paraganglioma
Mitochondrial complex II deficiency, nuclear type 1

Criteria Provided
Conflicting Classifications

CA3173017

rs_201461936

4 SubmittersRCV000440704 RCV000662985 RCV002256236 RCV001157730 RCV001157731 RCV001157732

NM_000535.7(PMS2):c.321G>T (p.Arg107=)

SNV
Germline

Chr7:6003722

Conflicting classifications of pathogenicity

not specified
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Mismatch repair cancer syndrome 4
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA049170

rs_756420858

6 SubmittersRCV000423093 RCV000560164 RCV002446689 RCV005398538 RCV005425971

NM_003172.4(SURF1):c.681G>A (p.Trp227Ter)

SNV
Germline

Chr9:133352516

Pathogenic

Condition: not provided
Leigh syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16605403

rs_1057520688

2 SubmittersRCV000440906 RCV003619671

NM_003172.4(SURF1):c.240+1G>T

SNV
Germline

Chr9:133354823

Pathogenic

Condition: not provided
Leigh syndrome
Charcot-Marie-Tooth disease type 4K
Mitochondrial complex IV deficiency, nuclear type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16605409

rs_781948238

4 SubmittersRCV000422985 RCV001260417 RCV002502493

NM_003172.4(SURF1):c.833+3G>A

SNV
Germline

Chr9:133352058

Conflicting classifications of pathogenicity

not specified
Leigh syndrome

Criteria Provided
Conflicting Classifications

CA16605652

rs_587699821

3 SubmittersRCV000428492 RCV002522381

NM_003172.4(SURF1):c.269T>C (p.Leu90Pro)

SNV
Germline

Chr9:133354713

Pathogenic/Likely pathogenic

Condition: not provided
Leigh syndrome
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA16605654

rs_782024654

8 SubmittersRCV000437222 RCV001379593 RCV004022345

NM_007103.4(NDUFV1):c.155+12C>T

SNV
Germline

Chr11:67608490

Conflicting classifications of pathogenicity

not specified
Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6143092

rs_199963966

3 SubmittersRCV000444487 RCV001105991 RCV001105992 RCV002062380

NM_007103.4(NDUFV1):c.831C>T (p.Asn277=)

SNV
Germline

Chr11:67611125

Conflicting classifications of pathogenicity

Condition: not provided
Mitochondrial complex I deficiency, nuclear type 1
Leigh syndrome

Criteria Provided
Conflicting Classifications

CA6143295

rs_139299777

4 SubmittersRCV000917470 RCV001106100 RCV001106099

NM_007103.4(NDUFV1):c.1269G>A (p.Thr423=)

SNV
Germline

Chr11:67612226

Conflicting classifications of pathogenicity

not specified
Mitochondrial complex I deficiency, nuclear type 1
Leigh syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6143466

rs_147719815

3 SubmittersRCV000426011 RCV001105040 RCV001105039 RCV003766367

NM_002496.4(NDUFS8):c.255G>A (p.Pro85=)

SNV
Germline

Chr11:68033166

Conflicting classifications of pathogenicity

not specified
NDUFS8-related disorder
Condition: not provided
Mitochondrial complex I deficiency, nuclear type 1
Leigh syndrome

Criteria Provided
Conflicting Classifications

CA6146432

rs_144125742

8 SubmittersRCV000431887 RCV003912624 RCV000676967 RCV001111479 RCV001111480

NM_000540.3(RYR1):c.7835+1G>A

SNV
Germline

Chr19:38502728

Likely pathogenic

Condition: not provided
RYR1-related disorder
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion
King Denborough syndrome
Central core myopathy
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16607795

rs_1057524858

3 SubmittersRCV000442837 RCV001865407 RCV002488988

NM_000540.3(RYR1):c.11590+1G>T

SNV
Germline

Chr19:38536071

Conflicting classifications of pathogenicity

Condition: not provided
RYR1-related disorder
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
Congenital myopathy with fiber type disproportion
Congenital multicore myopathy with external ophthalmoplegia
Centronuclear myopathy
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA16608213

rs_113928116

5 SubmittersRCV000438320 RCV000803108 RCV002502495 RCV004017611 RCV003996031

NM_001303.4(COX10):c.93C>A (p.Asp31Glu)

SNV
Germline

Chr17:14074372

Conflicting classifications of pathogenicity

Leigh syndrome
Mitochondrial complex IV deficiency, nuclear type 1
Condition: not provided
COX10-related disorder

Criteria Provided
Conflicting Classifications

CA8402242

rs_141481210

5 SubmittersRCV001125643 RCV001125644 RCV001718821 RCV003950347

NM_024407.5(NDUFS7):c.138G>A (p.Leu46=)

SNV
Germline

Chr19:1388848

Conflicting classifications of pathogenicity

Mitochondrial complex I deficiency, nuclear type 1
Leigh syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9043125

rs_147710123

3 SubmittersRCV001123144 RCV001127213 RCV001698192

NM_000377.3(WAS):c.360+1G>A

SNV
Germline

ChrX:48685634

Pathogenic

Condition: not provided
Wiskott-Aldrich syndrome
Thrombocytopenia 1
Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia

Criteria Provided
Multiple Submitters
No Conflicts

CA16609187

rs_1057520700

3 SubmittersRCV000440734 RCV001174594 RCV003766237

NM_000251.3(MSH2):c.2078G>A (p.Cys693Tyr)

SNV
Germline

Chr2:47476439

Likely pathogenic

not specified
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16609274

rs_1057524909

3 SubmittersRCV000445396 RCV001014350 RCV003449101

NM_000251.3(MSH2):c.174C>G (p.Phe58Leu)

SNV
Germline

Chr2:47403365

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Condition: not provided
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA030766

rs_372189599

11 SubmittersRCV000470314 RCV000491232 RCV004806312 RCV003329284 RCV003153620

NM_000251.3(MSH2):c.434T>C (p.Ile145Thr)

SNV
Germline

Chr2:47410161

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA038704

rs_774132884

7 SubmittersRCV000472699 RCV000572837 RCV001764409 RCV003226296 RCV004000783 RCV005247033

NM_000251.3(MSH2):c.589A>C (p.Lys197Gln)

SNV
Germline

Chr2:47410316

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
not specified
Hereditary cancer-predisposing syndrome
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA039407

rs_778573140

6 SubmittersRCV000458204 RCV000780450 RCV000566582 RCV004000796 RCV004022695

NM_000251.3(MSH2):c.727C>T (p.Arg243Trp)

SNV
Germline

Chr2:47412495

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA040214

rs_138857091

10 SubmittersRCV000466771 RCV000570120 RCV001591088 RCV001821275 RCV003463904 RCV004000774

NM_000251.3(MSH2):c.247A>G (p.Met83Val)

SNV
Germline

Chr2:47408436

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA16610775

rs_766196837

7 SubmittersRCV000460763 RCV000523794 RCV000575381 RCV004000791 RCV004568019

NM_000251.3(MSH2):c.350G>A (p.Trp117Ter)

SNV
Germline

Chr2:47408539

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16610782

rs_786202083

4 SubmittersRCV000473438 RCV000494274 RCV003449132

NM_000251.3(MSH2):c.1193C>T (p.Ala398Val)

SNV
Germline

Chr2:47429858

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16610785

rs_1060502019

6 SubmittersRCV000458164 RCV001143790 RCV003129864 RCV004022694

NM_000251.3(MSH2):c.668T>C (p.Leu223Pro)

SNV
Germline

Chr2:47412436

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome
Lynch syndrome 1
Muir-Torré syndrome
Mismatch repair cancer syndrome 2
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA16610792

rs_1060501992

7 SubmittersRCV000473169 RCV000571885 RCV001526843 RCV004000772 RCV005398618 RCV005600929

NM_000251.3(MSH2):c.715C>G (p.Gln239Glu)

SNV
Germline

Chr2:47412483

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA16610793

rs_63750488

7 SubmittersRCV000456715 RCV001026093 RCV001843521 RCV004000794 RCV002291632

NM_000251.3(MSH2):c.1327C>A (p.Leu443Ile)

SNV
Germline

Chr2:47445598

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16610794

rs_876659906

6 SubmittersRCV000471535 RCV000567703 RCV000986668 RCV004999454

NM_000251.3(MSH2):c.759G>A (p.Met253Ile)

SNV
Germline

Chr2:47412527

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA16610795

rs_1060502021

9 SubmittersRCV000467943 RCV001171949 RCV000568397 RCV003335335 RCV004000790

NM_000251.3(MSH2):c.1243C>T (p.Pro415Ser)

SNV
Germline

Chr2:47429908

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
not specified
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA16610806

rs_35717997

5 SubmittersRCV000473948 RCV000780437 RCV000774562 RCV004000786

NM_000251.3(MSH2):c.1397A>G (p.His466Arg)

SNV
Germline

Chr2:47463041

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1
Lynch syndrome
Inherited ovarian cancer (without breast cancer)

Criteria Provided
Conflicting Classifications

CA028501

rs_544265737

8 SubmittersRCV000463668 RCV000561959 RCV001753886 RCV004568018 RCV004000788 RCV004808722

NM_000251.3(MSH2):c.1478A>T (p.Gln493Leu)

SNV
Germline

Chr2:47463122

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA028775

rs_376990143

6 SubmittersRCV000458047 RCV000573378 RCV003463907 RCV004806308

NM_000251.3(MSH2):c.1595T>C (p.Val532Ala)

SNV
Germline

Chr2:47466742

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA029661

rs_754778750

5 SubmittersRCV000791418 RCV000572859 RCV004806313 RCV004701501

NM_000251.3(MSH2):c.1861C>G (p.Arg621Gly)

SNV
Germline

Chr2:47475126

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1
Hereditary nonpolyposis colon cancer

Criteria Provided
Conflicting Classifications

CA031770

rs_63750508

5 SubmittersRCV000465743 RCV000561447 RCV000483159 RCV003449133 RCV005239027

NM_000251.3(MSH2):c.2281G>A (p.Gly761Arg)

SNV
Germline

Chr2:47478342

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16610823

rs_1060502038

3 SubmittersRCV000456782 RCV003449137 RCV002446814

NM_000251.3(MSH2):c.2161G>T (p.Gly721Ter)

SNV
Germline

Chr2:47476522

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16610828

rs_1060502032

3 SubmittersRCV000460606 RCV003449135 RCV002418384

NM_000251.3(MSH2):c.2164G>T (p.Val722Phe)

SNV
Germline

Chr2:47476525

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16610829

rs_587781996

8 SubmittersRCV000459526 RCV000575773 RCV000662733 RCV001269187 RCV001810952

NM_000179.3(MSH6):c.104C>T (p.Ala35Val)

SNV
Germline

Chr2:47783337

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Mismatch repair cancer syndrome 1
Lynch syndrome 5
Endometrial carcinoma
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome 5
Endometrial carcinoma
Mismatch repair cancer syndrome 3
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA067076

rs_776547943

7 SubmittersRCV000461408 RCV000480657 RCV000765675 RCV000573037 RCV001192488 RCV005027528 RCV003463931

NM_000179.3(MSH6):c.115G>C (p.Gly39Arg)

SNV
Germline

Chr2:47783348

Conflicting classifications of pathogenicity

not specified
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Mismatch repair cancer syndrome 3
Endometrial carcinoma
Lynch syndrome 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA067226

rs_751838296

8 SubmittersRCV000481267 RCV000459919 RCV000567789 RCV000663030 RCV005398629 RCV001721501

NM_000179.3(MSH6):c.188C>G (p.Ser63Cys)

SNV
Germline

Chr2:47783421

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Lynch syndrome 5
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA16610836

rs_587779920

7 SubmittersRCV000459237 RCV000572922 RCV000761153 RCV003335336 RCV003463930

NM_000251.3(MSH2):c.85A>T (p.Lys29Ter)

SNV
Germline

Chr2:47403276

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16610843

rs_1060502001

4 SubmittersRCV000467909 RCV004017628 RCV004022693 RCV005600930

NM_000251.3(MSH2):c.2572G>A (p.Gly858Arg)

SNV
Germline

Chr2:47480809

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA036678

rs_754533481

7 SubmittersRCV000462770 RCV000491706 RCV001356868 RCV005421801 RCV004806314

NM_000251.3(MSH2):c.2594T>C (p.Ile865Thr)

SNV
Germline

Chr2:47480831

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA036766

rs_549759248

5 SubmittersRCV000460192 RCV000580161 RCV003317217 RCV004000789

NM_000251.3(MSH2):c.326A>G (p.Asn109Ser)

SNV
Germline

Chr2:47408515

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA037887

rs_749545338

5 SubmittersRCV000465504 RCV000774555 RCV003129863 RCV004000782

NM_000251.3(MSH2):c.793-10T>G

SNV
Germline

Chr2:47414259

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Hereditary cancer
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA16610848

rs_1060502016

4 SubmittersRCV000464809 RCV001525043 RCV003492058 RCV003225726

NM_000251.3(MSH2):c.830T>A (p.Leu277Ter)

SNV
Germline

Chr2:47414306

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16610850

rs_786203424

4 SubmittersRCV000475241 RCV000771344 RCV003449131

NM_000251.3(MSH2):c.2693A>C (p.Glu898Ala)

SNV
Germline

Chr2:47482837

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA16610851

rs_1060502037

8 SubmittersRCV000470535 RCV000569475 RCV001560001 RCV001844163 RCV003470452 RCV004000795

NM_000179.3(MSH6):c.432C>T (p.Ser144=)

SNV
Germline

Chr2:47791098

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Malignant tumor of breast
Lynch syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA16610852

rs_1046304919

8 SubmittersRCV000491454 RCV000521132 RCV001082030 RCV001355486 RCV004002173 RCV005421864

NM_000251.3(MSH2):c.943-1G>T

SNV
Germline

Chr2:47416295

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colon cancer
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16610853

rs_12476364

9 SubmittersRCV000468897 RCV000985819 RCV000491423 RCV001194032 RCV004000776 RCV003449129

NM_000179.3(MSH6):c.457G>A (p.Gly153Ser)

SNV
Germline

Chr2:47791123

Pathogenic/Likely pathogenic

Endometrial carcinoma
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA16610857

rs_1060502885

4 SubmittersRCV001355892 RCV002230105 RCV002339174 RCV004787735

NM_000179.3(MSH6):c.457+3A>G

SNV
Germline

Chr2:47791126

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA16610858

rs_1060502921

6 SubmittersRCV000469871 RCV001022718 RCV000780463 RCV004001839

NM_000251.3(MSH2):c.982G>A (p.Ala328Thr)

SNV
Germline

Chr2:47416335

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16610859

rs_753237286

8 SubmittersRCV000852299 RCV000457800 RCV000575104 RCV000663211 RCV001584155

NM_000179.3(MSH6):c.491A>T (p.His164Leu)

SNV
Germline

Chr2:47795927

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA073064

rs_146469162

5 SubmittersRCV000468439 RCV001551754 RCV001023262 RCV004001843

NM_000251.3(MSH2):c.1175A>T (p.Lys392Met)

SNV
Germline

Chr2:47429840

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
not specified

Criteria Provided
Conflicting Classifications

CA027158

rs_61756465

6 SubmittersRCV000473029 RCV001535616 RCV002329043 RCV003463908 RCV005239028

NM_000179.3(MSH6):c.743G>C (p.Arg248Pro)

SNV
Germline

Chr2:47798726

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA073426

rs_764870249

8 SubmittersRCV000476123 RCV000587170 RCV000562563 RCV001824790 RCV004001853 RCV003463941

NM_000251.3(MSH2):c.1361T>C (p.Ile454Thr)

SNV
Germline

Chr2:47445632

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA16610869

rs_1060502025

6 SubmittersRCV000467391 RCV000491177 RCV001764410 RCV004000792 RCV003463909

NM_000179.3(MSH6):c.869T>C (p.Leu290Pro)

SNV
Germline

Chr2:47798852

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Lynch syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA073528

rs_751309721

9 SubmittersRCV000473462 RCV000568053 RCV000985853 RCV001821283 RCV004001830 RCV005426020

NM_000179.3(MSH6):c.185G>A (p.Arg62His)

SNV
Germline

Chr2:47783418

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA16610871

rs_867979237

3 SubmittersRCV000464449 RCV002411491 RCV005421804

NM_000179.3(MSH6):c.1037C>G (p.Ser346Cys)

SNV
Germline

Chr2:47799020

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA16610875

rs_567785169

6 SubmittersRCV000459417 RCV000479642 RCV000562409 RCV001357378 RCV004806328

NM_000251.3(MSH2):c.1487T>C (p.Leu496Ser)

SNV
Germline

Chr2:47463131

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA16610877

rs_587779093

3 SubmittersRCV000458190 RCV000570881 RCV003470448

NM_000179.3(MSH6):c.1211A>G (p.Asn404Ser)

SNV
Germline

Chr2:47799194

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
MSH6-related disorder
Lynch syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA067350

rs_768740986

7 SubmittersRCV000460255 RCV000520334 RCV000567415 RCV004740239 RCV004000828 RCV005421803

NM_000179.3(MSH6):c.263G>A (p.Cys88Tyr)

SNV
Germline

Chr2:47790929

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome
Endometrial carcinoma
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16610881

rs_1060502911

9 SubmittersRCV000458426 RCV000581037 RCV002307505 RCV004001835 RCV003470464 RCV004760514

NM_000251.3(MSH2):c.2122A>G (p.Ile708Val)

SNV
Germline

Chr2:47476483

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA034231

rs_750084297

6 SubmittersRCV000469918 RCV000481613 RCV000491178 RCV004000781 RCV004533186

NM_000179.3(MSH6):c.1538T>C (p.Ile513Thr)

SNV
Germline

Chr2:47799521

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Endometrial carcinoma
Lynch syndrome 5
Endometrial carcinoma
Mismatch repair cancer syndrome 3
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA16610891

rs_1060502908

7 SubmittersRCV000456298 RCV000484466 RCV000567923 RCV004568050 RCV002480420 RCV004806322

NM_000251.3(MSH2):c.2320A>G (p.Ile774Val)

SNV
Germline

Chr2:47478381

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Condition: not provided
Lynch syndrome
Gastric cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA16610892

rs_775464903

7 SubmittersRCV000468999 RCV000492021 RCV003463906 RCV001270006 RCV004000779 RCV003168800

NM_000179.3(MSH6):c.1805C>A (p.Ser602Ter)

SNV
Germline

Chr2:47799788

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer
Lynch syndrome 5
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16610899

rs_730881816

4 SubmittersRCV002230410 RCV001192458 RCV003449147 RCV003139659

NM_000179.3(MSH6):c.2056G>T (p.Gly686Cys)

SNV
Germline

Chr2:47800039

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA16610900

rs_1060502934

6 SubmittersRCV000460149 RCV001797726 RCV000775722 RCV001576673 RCV004001851

NM_000179.3(MSH6):c.968C>T (p.Thr323Ile)

SNV
Germline

Chr2:47798951

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA073667

rs_777890307

4 SubmittersRCV000466844 RCV000579969 RCV004022782

NM_000179.3(MSH6):c.1480G>T (p.Ala494Ser)

SNV
Germline

Chr2:47799463

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA067740

rs_758699749

5 SubmittersRCV000776440 RCV002230121 RCV002508935 RCV003446065

NM_000179.3(MSH6):c.90A>G (p.Glu30=)

SNV
Germline

Chr2:47783323

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA16610911

rs_1060504760

4 SubmittersRCV000572127 RCV001430916 RCV004999509 RCV005421856

NM_000179.3(MSH6):c.2603T>C (p.Met868Thr)

SNV
Germline

Chr2:47800586

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast and/or ovarian cancer
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA069266

rs_780280765

6 SubmittersRCV000464988 RCV000771517 RCV002289613 RCV001798840 RCV004000830

NM_000179.3(MSH6):c.2735G>A (p.Trp912Ter)

SNV
Germline

Chr2:47800718

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA16610918

rs_1060502876

5 SubmittersRCV000470184 RCV000771632 RCV000985836 RCV003449140

NM_000179.3(MSH6):c.2818G>T (p.Ala940Ser)

SNV
Germline

Chr2:47800801

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Endometrial carcinoma
Lynch syndrome
not specified
Lynch syndrome 5
Endometrial carcinoma
Mismatch repair cancer syndrome 3

Criteria Provided
Conflicting Classifications

CA069657

rs_772978164

7 SubmittersRCV000460082 RCV000580547 RCV003463940 RCV004001849 RCV004525934 RCV005398631

NM_000179.3(MSH6):c.2241G>C (p.Leu747=)

SNV
Germline

Chr2:47800224

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA16610923

rs_377722465

4 SubmittersRCV000479314 RCV000574064 RCV001080859 RCV005421836

NM_000179.3(MSH6):c.3647-7T>G

SNV
Germline

Chr2:47806197

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA071773

rs_780269667

5 SubmittersRCV000464236 RCV000774611 RCV001192491 RCV004002154

NM_000179.3(MSH6):c.1117C>T (p.Leu373Phe)

SNV
Germline

Chr2:47799100

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16610943

rs_1060502915

6 SubmittersRCV000457279 RCV000567073 RCV004001836 RCV003223642

NM_000179.3(MSH6):c.3685A>C (p.Asn1229His)

SNV
Germline

Chr2:47806242

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA071840

rs_774249402

5 SubmittersRCV000457639 RCV000564311 RCV003463937 RCV005355857

NM_000179.3(MSH6):c.2910G>C (p.Trp970Cys)

SNV
Germline

Chr2:47800893

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 5
Endometrial carcinoma
Mismatch repair cancer syndrome 3
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA069814

rs_765411990

6 SubmittersRCV001016938 RCV004696917 RCV005398632 RCV004001854 RCV003153635

NM_000179.3(MSH6):c.1132A>C (p.Arg378=)

SNV
Germline

Chr2:47799115

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA067192

rs_781572949

9 SubmittersRCV000568836 RCV001290548 RCV000485270 RCV001087055 RCV004002159 RCV005421839

NM_000179.3(MSH6):c.3801+6T>C

SNV
Germline

Chr2:47806364

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA072089

rs_749922503

5 SubmittersRCV000467499 RCV000774613 RCV001712419 RCV002268086 RCV004001840

NM_000179.3(MSH6):c.3861T>C (p.Tyr1287=)

SNV
Germline

Chr2:47806511

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Condition: not provided
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA16610952

rs_1060504739

5 SubmittersRCV000565757 RCV001493899 RCV004002157 RCV004999508 RCV005426040

NM_000179.3(MSH6):c.3188T>G (p.Leu1063Arg)

SNV
Germline

Chr2:47803435

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Lynch syndrome

Reviewed By Expert Panel

CA16610953

rs_1060502901

10 SubmittersRCV000491375 RCV000623149 RCV002051855 RCV002230108 RCV002272245 RCV004001829

NM_000179.3(MSH6):c.3205G>C (p.Gly1069Arg)

SNV
Germline

Chr2:47803452

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Lynch syndrome 5
Endometrial carcinoma
Mismatch repair cancer syndrome 3
Endometrial carcinoma
Lynch syndrome 5
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA070372

rs_764113705

11 SubmittersRCV000464681 RCV000483362 RCV000491614 RCV001354888 RCV000662364 RCV004568054 RCV005027529 RCV004001848

NM_000179.3(MSH6):c.3886A>G (p.Lys1296Glu)

SNV
Germline

Chr2:47806536

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA16610959

rs_575714670

7 SubmittersRCV000477645 RCV000561056 RCV001290552 RCV003477984 RCV004000829

NM_000179.3(MSH6):c.3949C>G (p.His1317Asp)

SNV
Germline

Chr2:47806599

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA072360

rs_759092293

7 SubmittersRCV000485411 RCV000566983 RCV000463911 RCV000662834 RCV003463934

NM_000179.3(MSH6):c.1572C>A (p.Tyr524Ter)

SNV
Germline

Chr2:47799555

Pathogenic/Likely pathogenic

Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Endometrial carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA16610964

rs_587779215

6 SubmittersRCV000457937 RCV000523866 RCV000491224 RCV000791425 RCV003449146 RCV003463929

NM_000179.3(MSH6):c.3556G>C (p.Gly1186Arg)

SNV
Germline

Chr2:47805027

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA16610969

rs_1060502909

4 SubmittersRCV000465628 RCV000775741 RCV004001834

NM_000251.3(MSH2):c.23C>G (p.Thr8Arg)

SNV
Germline

Chr2:47403214

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA16610971

rs_17217716

6 SubmittersRCV000460417 RCV000564460 RCV001798836 RCV004568016 RCV004806310

NM_000179.3(MSH6):c.1660C>T (p.Arg554Cys)

SNV
Germline

Chr2:47799643

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA067976

rs_775716798

7 SubmittersRCV000473757 RCV001566013 RCV000580839 RCV001030493 RCV004806326 RCV004568055

NM_000179.3(MSH6):c.3556+1G>A

SNV
Germline

Chr2:47805028

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16610973

rs_1060502926

5 SubmittersRCV000475044 RCV002451123 RCV003449150 RCV004767273

NM_000179.3(MSH6):c.3607C>A (p.His1203Asn)

SNV
Germline

Chr2:47805668

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Endometrial carcinoma
Mismatch repair cancer syndrome 3
Lynch syndrome 5
Endometrial carcinoma
Condition: not provided
Lynch syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA16610976

rs_876660882

11 SubmittersRCV000457877 RCV000490961 RCV002496783 RCV003463944 RCV003148746 RCV004001861 RCV005421805

NM_000179.3(MSH6):c.3988C>G (p.Leu1330Val)

SNV
Germline

Chr2:47806638

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Endometrial carcinoma
Lynch syndrome
Mismatch repair cancer syndrome 3

Criteria Provided
Conflicting Classifications

CA16610987

rs_768944975

7 SubmittersRCV000466998 RCV000775745 RCV001555679 RCV003470467 RCV004001844 RCV005355858

NM_000179.3(MSH6):c.1946A>G (p.Asp649Gly)

SNV
Germline

Chr2:47799929

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome
MSH6-related disorder

Criteria Provided
Conflicting Classifications

CA16610993

rs_777799551

9 SubmittersRCV000458338 RCV000562905 RCV002281095 RCV004001856 RCV004740241

NM_000179.3(MSH6):c.1984A>G (p.Met662Val)

SNV
Germline

Chr2:47799967

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA16610994

rs_1060502935

4 SubmittersRCV000461074 RCV001013909 RCV003320187 RCV004806327

NM_000179.3(MSH6):c.2017C>G (p.Pro673Ala)

SNV
Germline

Chr2:47800000

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome
Endometrial carcinoma
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA068368

rs_377356882

8 SubmittersRCV000470045 RCV000491796 RCV001565312 RCV004001833 RCV003463933 RCV005355855

NM_000251.3(MSH2):c.388C>T (p.Gln130Ter)

SNV
Germline

Chr2:47410115

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16610998

rs_1060501989

7 SubmittersRCV000657785 RCV001190389 RCV002230796 RCV002289610

NM_000251.3(MSH2):c.439G>A (p.Val147Ile)

SNV
Germline

Chr2:47410166

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome
Lynch syndrome 1
Muir-Torré syndrome
Lynch syndrome 1
Mismatch repair cancer syndrome 2

Criteria Provided
Conflicting Classifications

CA038750

rs_773125415

9 SubmittersRCV000458857 RCV000568213 RCV000759835 RCV004000775 RCV003449128 RCV005398619

NM_000251.3(MSH2):c.645+8A>G

SNV
Germline

Chr2:47410380

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA039780

rs_140217708

5 SubmittersRCV000463062 RCV000581014 RCV003150228 RCV005248009

NM_000251.3(MSH2):c.712T>G (p.Tyr238Asp)

SNV
Germline

Chr2:47412480

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Intestinal polyposis syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA16611002

rs_1060501987

5 SubmittersRCV001026074 RCV002230355 RCV005625612 RCV004000771

NM_000179.3(MSH6):c.2355T>A (p.His785Gln)

SNV
Germline

Chr2:47800338

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 5
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA16611005

rs_1060502942

8 SubmittersRCV000464632 RCV000566667 RCV000759132 RCV005055114 RCV004001857 RCV004568057

NM_000251.3(MSH2):c.726C>G (p.Asn242Lys)

SNV
Germline

Chr2:47412494

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1
Lynch syndrome
Muir-Torré syndrome
Lynch syndrome 1
Mismatch repair cancer syndrome 2

Criteria Provided
Conflicting Classifications

CA16611006

rs_748427458

8 SubmittersRCV000457050 RCV000775712 RCV000519119 RCV004568017 RCV004806311 RCV005027512

NM_000179.3(MSH6):c.2550C>G (p.Tyr850Ter)

SNV
Germline

Chr2:47800533

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Gastric cancer
Lynch syndrome 5
Lynch syndrome
Mismatch repair cancer syndrome 3
Lynch syndrome
Lynch syndrome 5
Endometrial carcinoma
Hereditary nonpolyposis colon cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA16611011

rs_374230313

9 SubmittersRCV000469257 RCV000566681 RCV003168831 RCV003449149 RCV003483627 RCV004001837 RCV005355856 RCV005431683

NM_000251.3(MSH2):c.803C>T (p.Ser268Leu)

SNV
Germline

Chr2:47414279

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA040677

rs_563410947

7 SubmittersRCV001027097 RCV001358282 RCV002230810 RCV003470449

NM_000179.3(MSH6):c.2757A>C (p.Glu919Asp)

SNV
Germline

Chr2:47800740

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA16611013

rs_866493167

5 SubmittersRCV000460470 RCV002255396 RCV004806323 RCV003470465

NM_000179.3(MSH6):c.2963G>C (p.Arg988Pro)

SNV
Germline

Chr2:47800946

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Endometrial carcinoma
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA069882

rs_115386788

4 SubmittersRCV002230416 RCV004001842 RCV004568052 RCV002436447

NM_000179.3(MSH6):c.3173-3C>G

SNV
Germline

Chr2:47803417

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16611020

rs_1060502944

3 SubmittersRCV000460492 RCV002230128 RCV004022787

NM_000251.3(MSH2):c.1009C>G (p.Gln337Glu)

SNV
Germline

Chr2:47416362

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA16611022

rs_63750778

5 SubmittersRCV000462262 RCV001800676 RCV001016976 RCV004806309

NM_000251.3(MSH2):c.1510+2T>C

SNV
Germline

Chr2:47463156

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA16611029

rs_1060502023

7 SubmittersRCV000491134 RCV001782943 RCV001543671 RCV002230366

NM_000251.3(MSH2):c.1657A>T (p.Asn553Tyr)

SNV
Germline

Chr2:47466804

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA029966

rs_772772789

6 SubmittersRCV000477039 RCV000774572 RCV003156243 RCV004000787

NM_000251.3(MSH2):c.1662-10C>T

SNV
Germline

Chr2:47470955

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Breast and/or ovarian cancer
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA030213

rs_752606387

7 SubmittersRCV000590414 RCV000580913 RCV001083456 RCV004782391 RCV003150227 RCV005247086

NM_000251.3(MSH2):c.1777C>G (p.Gln593Glu)

SNV
Germline

Chr2:47475042

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA16611035

rs_63750200

4 SubmittersRCV000467112 RCV001013110 RCV004000784

NM_000179.3(MSH6):c.3364C>G (p.Gln1122Glu)

SNV
Germline

Chr2:47803611

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA16611045

rs_1060502892

7 SubmittersRCV000467819 RCV000662840 RCV000773186 RCV001805074 RCV004001824

NM_000251.3(MSH2):c.2267C>G (p.Thr756Ser)

SNV
Germline

Chr2:47478328

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
not specified
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA035142

rs_372383829

8 SubmittersRCV000464961 RCV000573097 RCV001788225 RCV000781562 RCV003228932 RCV004000793

NM_000251.3(MSH2):c.2272G>A (p.Asp758Asn)

SNV
Germline

Chr2:47478333

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA16611050

rs_876658254

4 SubmittersRCV000477479 RCV002446812 RCV004568015

NM_000251.3(MSH2):c.2321T>C (p.Ile774Thr)

SNV
Germline

Chr2:47478382

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1
Muir-Torré syndrome
Lynch syndrome 1
Mismatch repair cancer syndrome 2

Criteria Provided
Conflicting Classifications

CA16611051

rs_878853811

11 SubmittersRCV000473566 RCV000761089 RCV001015184 RCV001284505 RCV003315429 RCV005027511

NM_000251.3(MSH2):c.2459-1G>A

SNV
Germline/somatic

Chr2:47480695

Pathogenic/Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16611057

rs_1060501991

4 SubmittersRCV000465186 RCV001201394 RCV002446811 RCV003449127

NM_000251.3(MSH2):c.2634+7C>G

SNV
Germline

Chr2:47480878

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA16611063

rs_905179122

5 SubmittersRCV000469067 RCV000613916 RCV005247998

NM_000179.3(MSH6):c.3529C>G (p.Leu1177Val)

SNV
Germline

Chr2:47805000

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Endometrial carcinoma
Lynch syndrome 5
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA071122

rs_748398941

8 SubmittersRCV000469909 RCV000568727 RCV003463928 RCV000663017 RCV000521217 RCV004001826

NM_000179.3(MSH6):c.76A>G (p.Arg26Gly)

SNV
Germline

Chr2:47783309

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
not specified
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA16611071

rs_757622849

5 SubmittersRCV000468207 RCV000564743 RCV004806329 RCV005056025 RCV004568058

NM_000179.3(MSH6):c.197C>T (p.Pro66Leu)

SNV
Germline

Chr2:47783430

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA16611077

rs_730881812

5 SubmittersRCV000470612 RCV000485693 RCV000776536 RCV004001846

NM_000179.3(MSH6):c.3979A>T (p.Asn1327Tyr)

SNV
Germline

Chr2:47806629

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Endometrial carcinoma
Condition: not provided
Lynch syndrome
Lynch syndrome 5
Endometrial carcinoma
Mismatch repair cancer syndrome 3

Criteria Provided
Conflicting Classifications

CA16611088

rs_756216566

7 SubmittersRCV000473620 RCV000571258 RCV004568053 RCV002307506 RCV004001847 RCV005398630

NM_000179.3(MSH6):c.1776A>G (p.Val592=)

SNV
Germline

Chr2:47799759

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA068125

rs_56132616

7 SubmittersRCV000473056 RCV000562495 RCV005355908 RCV004002168

NM_000179.3(MSH6):c.2013G>A (p.Leu671=)

SNV
Germline

Chr2:47799996

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome 5
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA068362

rs_765289515

7 SubmittersRCV000471664 RCV000491045 RCV000600881 RCV001140444 RCV004002161

NM_000179.3(MSH6):c.2235T>G (p.Ile745Met)

SNV
Germline

Chr2:47800218

Conflicting classifications of pathogenicity

Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA068645

rs_556339046

6 SubmittersRCV000663137 RCV000473197 RCV001014897 RCV004806318

NM_000179.3(MSH6):c.2527A>G (p.Ile843Val)

SNV
Germline

Chr2:47800510

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 5
Endometrial carcinoma
Lynch syndrome 5
Endometrial carcinoma
Mismatch repair cancer syndrome 3
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA16611151

rs_1060502922

8 SubmittersRCV000471414 RCV000584043 RCV001775812 RCV004576954 RCV003470466 RCV005033987 RCV004001841

NM_000179.3(MSH6):c.2614A>G (p.Ile872Val)

SNV
Germline

Chr2:47800597

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA16611154

rs_1060502939

6 SubmittersRCV000470821 RCV000759137 RCV000491946 RCV004001855

NM_000179.3(MSH6):c.3560A>G (p.Glu1187Gly)

SNV
Germline

Chr2:47805621

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
MSH6-related disorder
Lynch syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA071386

rs_150632241

9 SubmittersRCV000464152 RCV000486385 RCV000491973 RCV004539952 RCV004001845 RCV005055113

NM_000179.3(MSH6):c.3586G>C (p.Glu1196Gln)

SNV
Germline

Chr2:47805647

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome
Mismatch repair cancer syndrome 3
Lynch syndrome 5
Endometrial carcinoma
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA071434

rs_75095286

10 SubmittersRCV000467878 RCV000574327 RCV000587963 RCV004001852 RCV002496782 RCV003470469

NM_000179.3(MSH6):c.4012C>T (p.Leu1338=)

SNV
Germline

Chr2:47806789

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
MSH6-related disorder
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA16611189

rs_1060504743

6 SubmittersRCV000460305 RCV001021659 RCV003441892 RCV004541496 RCV005426043

NM_000249.4(MLH1):c.1331A>G (p.Asn444Ser)

SNV
Germline

Chr3:37025929

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Colorectal cancer, hereditary nonpolyposis, type 2
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA028235

rs_763189331

8 SubmittersRCV000587089 RCV001088444 RCV001190846 RCV004002034 RCV005247065 RCV005355875

NM_000249.4(MLH1):c.1667+4A>G

SNV
Germline

Chr3:37040298

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Mismatch repair cancer syndrome 1

Criteria Provided
Conflicting Classifications

CA16611233

rs_983986337

10 SubmittersRCV000464057 RCV001354080 RCV000777682 RCV002254696 RCV004000655 RCV005033966

NM_000249.4(MLH1):c.1897-7C>T

SNV
Germline/somatic

Chr3:37048510

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colon cancer
Colorectal cancer, hereditary nonpolyposis, type 2
not specified

Criteria Provided
Conflicting Classifications

CA031471

rs_373078652

9 SubmittersRCV000461885 RCV000758581 RCV000759811 RCV001189941 RCV001535615 RCV005247025 RCV004689743

NM_000249.4(MLH1):c.589-6T>G

SNV
Germline

Chr3:37012005

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA037159

rs_781244266

5 SubmittersRCV000467939 RCV000662708 RCV001525125 RCV004000652

NM_000249.4(MLH1):c.779T>A (p.Leu260His)

SNV
Germline

Chr3:37014533

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA16611244

rs_63751283

6 SubmittersRCV000484437 RCV000463982 RCV000662376 RCV000561786 RCV004000658

NM_000249.4(MLH1):c.2020G>A (p.Glu674Lys)

SNV
Germline

Chr3:37048934

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
MLH1-related disorder
Malignant tumor of breast
Colorectal cancer, hereditary nonpolyposis, type 2
Condition: not provided
Lynch syndrome
Muir-Torré syndrome
Mismatch repair cancer syndrome 1
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Conflicting Classifications

CA032265

rs_755577490

9 SubmittersRCV000456564 RCV001189202 RCV003409613 RCV001354280 RCV004022567 RCV005230373 RCV004000665 RCV005033967

NM_000249.4(MLH1):c.1457C>T (p.Ser486Phe)

SNV
Germline

Chr3:37028831

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Ovarian cancer
Lynch syndrome
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Conflicting Classifications

CA028856

rs_532873141

9 SubmittersRCV000460169 RCV000574118 RCV000481335 RCV003153588 RCV004000656 RCV005355793 RCV005600914

NM_000249.4(MLH1):c.359C>G (p.Ala120Gly)

SNV
Germline

Chr3:37004453

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA16611319

rs_267607740

7 SubmittersRCV000469673 RCV000581297 RCV001193964 RCV003476024 RCV004000660

NM_000249.4(MLH1):c.1150G>A (p.Val384Ile)

SNV
Germline

Chr3:37025748

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Mismatch repair cancer syndrome 1
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA027240

rs_757350157

6 SubmittersRCV000470621 RCV002348276 RCV003150815 RCV003150814 RCV004999429 RCV004000659

NM_000249.4(MLH1):c.652T>C (p.Ser218Pro)

SNV
Germline

Chr3:37012074

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
not specified
Lynch syndrome
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA037512

rs_750650349

8 SubmittersRCV000564654 RCV000475778 RCV000987155 RCV001280631 RCV004000657 RCV005365304

NM_000249.4(MLH1):c.2242G>C (p.Asp748His)

SNV
Germline

Chr3:37050624

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA033975

rs_374380262

6 SubmittersRCV000464953 RCV000776448 RCV003153596 RCV004000666

NM_001378615.1(CC2D2A):c.1267C>T (p.Arg423Ter)

SNV
Germline

Chr4:15527564

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome 1
COACH syndrome 2
Meckel syndrome, type 6
Joubert syndrome 9
Retinitis pigmentosa 93

Criteria Provided
Multiple Submitters
No Conflicts

CA2863622

rs_757208121

3 SubmittersRCV000456449 RCV000987416 RCV005027531

NM_004168.4(SDHA):c.1527G>A (p.Ser509=)

SNV
Germline

Chr5:240452

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary pheochromocytoma-paraganglioma
Mitochondrial complex II deficiency, nuclear type 1
Leigh syndrome
Condition: not provided
Pheochromocytoma/paraganglioma syndrome 5
Mitochondrial complex II deficiency, nuclear type 1
Pheochromocytoma/paraganglioma syndrome 5

Criteria Provided
Conflicting Classifications

CA3173266

rs_746453879

6 SubmittersRCV000573305 RCV001152360 RCV001152358 RCV001152359 RCV003478054 RCV000473824 RCV005421900

NM_004168.4(SDHA):c.1014G>A (p.Ala338=)

SNV
Germline

Chr5:233595

Conflicting classifications of pathogenicity

Pheochromocytoma/paraganglioma syndrome 5
Mitochondrial complex II deficiency, nuclear type 1
Hereditary cancer-predisposing syndrome
Hereditary pheochromocytoma-paraganglioma
Leigh syndrome
Condition: not provided
SDHA-related disorder
Pheochromocytoma/paraganglioma syndrome 5
Mitochondrial complex II deficiency, nuclear type 1

Criteria Provided
Conflicting Classifications

CA3173065

rs_201341132

6 SubmittersRCV000456689 RCV000563364 RCV001152244 RCV001152246 RCV001310840 RCV004535493 RCV005421894 RCV001152245

NM_004168.4(SDHA):c.955A>C (p.Ile319Leu)

SNV
Germline

Chr5:233536

Conflicting classifications of pathogenicity

Pheochromocytoma/paraganglioma syndrome 5
Mitochondrial complex II deficiency, nuclear type 1
Dilated cardiomyopathy 1GG
Pheochromocytoma/paraganglioma syndrome 5
Leigh syndrome
Mitochondrial complex II deficiency, nuclear type 1
not specified
Pheochromocytoma/paraganglioma syndrome 5
Hereditary cancer-predisposing syndrome
Condition: not provided
Dilated cardiomyopathy 1GG

Criteria Provided
Conflicting Classifications

CA3173042

rs_377509915

11 SubmittersRCV000462816 RCV000765829 RCV001821296 RCV005421813 RCV000565889 RCV002272249 RCV003476127

NM_004168.4(SDHA):c.1725G>A (p.Ala575=)

SNV
Germline

Chr5:251399

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Pheochromocytoma/paraganglioma syndrome 5
Mitochondrial complex II deficiency, nuclear type 1
Leigh syndrome
Hereditary pheochromocytoma-paraganglioma
Mitochondrial complex II deficiency, nuclear type 1
Condition: not provided
Pheochromocytoma/paraganglioma syndrome 5

Criteria Provided
Conflicting Classifications

CA3173340

rs_758252610

5 SubmittersRCV000561801 RCV000466412 RCV001156240 RCV001156241 RCV001156242 RCV003478052 RCV005421878

NM_004168.4(SDHA):c.5C>T (p.Ser2Leu)

SNV
Germline

Chr5:218360

Conflicting classifications of pathogenicity

Pheochromocytoma/paraganglioma syndrome 5
Mitochondrial complex II deficiency, nuclear type 1
Mitochondrial complex II deficiency, nuclear type 1
Dilated cardiomyopathy 1GG
Leigh syndrome
Hereditary pheochromocytoma-paraganglioma
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3172677

rs_780064103

7 SubmittersRCV000473246 RCV001153198 RCV004568122 RCV001153199 RCV001153200 RCV000569083 RCV003225073

NM_000535.7(PMS2):c.1920A>G (p.Glu640=)

SNV
Germline

Chr7:5986845

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA16612117

rs_1060503113

4 SubmittersRCV001775815 RCV002230425 RCV002411503 RCV005421806

NM_000535.7(PMS2):c.1262G>A (p.Arg421Gln)

SNV
Germline

Chr7:5987503

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Condition: not provided
Mismatch repair cancer syndrome 4
Lynch syndrome 4
not specified

Criteria Provided
Conflicting Classifications

CA042857

rs_778482303

9 SubmittersRCV000463628 RCV000580340 RCV001257486 RCV001753907 RCV005398635 RCV004586719

NM_000535.7(PMS2):c.353+2T>C

SNV
Germline

Chr7:6003688

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 4
Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colon cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA049344

rs_111466480

9 SubmittersRCV000468932 RCV001782956 RCV003449154 RCV004001879 RCV001020538 RCV005407122

NM_000535.7(PMS2):c.27A>C (p.Thr9=)

SNV
Germline

Chr7:6006028

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA16612160

rs_1060504842

6 SubmittersRCV000470381 RCV000565306 RCV001575187 RCV002298610 RCV005421875

NM_000535.7(PMS2):c.2101C>T (p.His701Tyr)

SNV
Germline

Chr7:5982897

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA046594

rs_763866879

3 SubmittersRCV000477635 RCV002418417 RCV004568065

NM_000535.7(PMS2):c.1928A>G (p.Gln643Arg)

SNV
Germline

Chr7:5986837

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Mismatch repair cancer syndrome 1
Lynch syndrome 4
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA045882

rs_760629688

6 SubmittersRCV000463007 RCV000765955 RCV000573574 RCV001821289 RCV004001875

NM_000535.7(PMS2):c.1480T>G (p.Ser494Ala)

SNV
Germline

Chr7:5987285

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA16612219

rs_587782500

5 SubmittersRCV000467052 RCV000575214 RCV001821288 RCV005421807

NM_000535.7(PMS2):c.1382C>T (p.Ala461Val)

SNV
Germline

Chr7:5987383

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA16612221

rs_1060503133

4 SubmittersRCV000475453 RCV000564795 RCV005600937

NM_000535.7(PMS2):c.1249A>C (p.Ile417Leu)

SNV
Germline

Chr7:5987516

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA16612223

rs_1060503132

7 SubmittersRCV000461212 RCV001186458 RCV001193251 RCV001548440 RCV004001878

NM_000535.7(PMS2):c.1243G>T (p.Val415Leu)

SNV
Germline

Chr7:5987522

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA042760

rs_138387687

8 SubmittersRCV000465085 RCV000587977 RCV000772619 RCV002268088 RCV004001883

NM_000535.7(PMS2):c.591C>T (p.Gly197=)

SNV
Germline

Chr7:5999222

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 4
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA050497

rs_748518694

7 SubmittersRCV000471455 RCV000571978 RCV003151778 RCV005421808 RCV004001877

NM_000535.7(PMS2):c.538-2A>G

SNV
Germline

Chr7:5999277

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 4
Lynch syndrome
Gastric cancer
Mismatch repair cancer syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA050225

rs_758304323

13 SubmittersRCV000775368 RCV000469599 RCV001576762 RCV000663281 RCV000825602 RCV003168841 RCV005230407

NM_000535.7(PMS2):c.58C>G (p.Arg20Gly)

SNV
Germline

Chr7:6005997

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA050459

rs_573374779

6 SubmittersRCV000468998 RCV000561984 RCV002289614 RCV004001884

NM_000535.7(PMS2):c.1653C>A (p.Cys551Ter)

SNV
Germline

Chr7:5987112

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16612257

rs_876659162

6 SubmittersRCV000456471 RCV000583993 RCV002402290 RCV003449159 RCV004017630

NM_000535.7(PMS2):c.1489G>A (p.Gly497Ser)

SNV
Germline

Chr7:5987276

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 4
Mismatch repair cancer syndrome 4
Lynch syndrome
not specified

Criteria Provided
Conflicting Classifications

CA043920

rs_749826312

8 SubmittersRCV000464024 RCV000573656 RCV001597142 RCV005044691 RCV004001872 RCV004800416

NM_000535.7(PMS2):c.1393A>C (p.Lys465Gln)

SNV
Germline

Chr7:5987372

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA16612262

rs_1060503135

4 SubmittersRCV002230436 RCV003449155 RCV004022861 RCV004806331

NM_000535.7(PMS2):c.713G>A (p.Ser238Asn)

SNV
Germline

Chr7:5997416

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA16612276

rs_1060503111

6 SubmittersRCV000470673 RCV000987844 RCV000569996 RCV004001873

NM_000535.7(PMS2):c.711A>G (p.Gln237=)

SNV
Germline

Chr7:5997418

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Lynch syndrome
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA16612281

rs_368608818

9 SubmittersRCV000462666 RCV000575513 RCV001672776 RCV001821290 RCV004001881 RCV005426022

NM_000535.7(PMS2):c.94G>T (p.Val32Leu)

SNV
Germline

Chr7:6005961

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Carcinoma of colon
PMS2-related disorder
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA16612292

rs_977251189

7 SubmittersRCV000473006 RCV000485503 RCV000562693 RCV001356469 RCV004742426 RCV004568064

NM_000535.7(PMS2):c.2562C>T (p.Ala854=)

SNV
Germline

Chr7:5973426

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA16612377

rs_1060504841

4 SubmittersRCV000470777 RCV000572558 RCV004999513 RCV005421874

NM_000535.7(PMS2):c.2192T>G (p.Leu731Ter)

SNV
Germline

Chr7:5978679

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 4
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16612382

rs_1060503110

4 SubmittersRCV000477621 RCV000521108 RCV003449153 RCV005401448

NM_000535.7(PMS2):c.1891C>T (p.Gln631Ter)

SNV
Germline

Chr7:5986874

Pathogenic

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA16612391

rs_1060503138

4 SubmittersRCV000679346 RCV002230130 RCV004649166 RCV003449157

NM_000535.7(PMS2):c.1675G>A (p.Gly559Arg)

SNV
Germline

Chr7:5987090

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome
Mismatch repair cancer syndrome 4
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA045058

rs_751153838

7 SubmittersRCV000471818 RCV001012607 RCV003227761 RCV004001876 RCV005033990

NM_000535.7(PMS2):c.1361T>C (p.Leu454Pro)

SNV
Germline

Chr7:5987404

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA043156

rs_772659239

4 SubmittersRCV000472222 RCV000574931 RCV004001882

NM_000535.7(PMS2):c.230A>C (p.Glu77Ala)

SNV
Germline

Chr7:6003992

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA047490

rs_777095030

10 SubmittersRCV000477451 RCV000481770 RCV000776176 RCV002268089 RCV004001885

NM_024426.6(WT1):c.1182C>T (p.Arg394=)

SNV
Germline

Chr11:32396339

Conflicting classifications of pathogenicity

not specified
Wilms tumor 1
11p partial monosomy syndrome
Drash syndrome
Frasier syndrome
Nephrotic syndrome, type 4
Wilms tumor 1
Meacham syndrome
WT1-related disorder
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA064340

rs_147939483

6 SubmittersRCV000516542 RCV000468188 RCV001107194 RCV001104444 RCV001107193 RCV004551545 RCV004965481 RCV004808729

NM_024426.6(WT1):c.1017-9T>C

SNV
Germline

Chr11:32400053

Conflicting classifications of pathogenicity

Frasier syndrome
Wilms tumor 1
11p partial monosomy syndrome
Drash syndrome
Nephrotic syndrome, type 4
Wilms tumor 1
Meacham syndrome
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA064029

rs_368486676

6 SubmittersRCV000459181 RCV001104523 RCV001104524 RCV001102607 RCV004678717 RCV004721383

NM_024426.6(WT1):c.343C>T (p.Pro115Ser)

SNV
Germline

Chr11:32435018

Conflicting classifications of pathogenicity

Frasier syndrome
Drash syndrome
Wilms tumor 1
11p partial monosomy syndrome
Condition: not provided
Wilms tumor 1
Drash syndrome
WT1-related disorder
6 conditions
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA16613338

rs_916583720

7 SubmittersRCV000473635 RCV002305489 RCV004000754 RCV004567978 RCV004740231 RCV005044663 RCV004965471

NM_024426.6(WT1):c.785G>A (p.Gly262Asp)

SNV
Germline

Chr11:32428058

Conflicting classifications of pathogenicity

Frasier syndrome
Drash syndrome
Wilms tumor 1
11p partial monosomy syndrome
Nephrotic syndrome, type 4
Wilms tumor 1
Meacham syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
WT1-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA065639

rs_372225738

6 SubmittersRCV000469273 RCV001107289 RCV001107939 RCV001107288 RCV002256254 RCV003313070 RCV004551518 RCV004686585

NM_024426.6(WT1):c.34A>C (p.Thr12Pro)

SNV
Germline

Chr11:32435327

Conflicting classifications of pathogenicity

Frasier syndrome
Drash syndrome
Wilms tumor 1
11p partial monosomy syndrome
Inborn genetic diseases
6 conditions

Criteria Provided
Conflicting Classifications

CA064742

rs_764111950

3 SubmittersRCV000457233 RCV004965472 RCV005044664

NM_024426.6(WT1):c.1124G>A (p.Arg375His)

SNV
Germline

Chr11:32396397

Conflicting classifications of pathogenicity

Frasier syndrome
Drash syndrome
Wilms tumor 1
11p partial monosomy syndrome
Meacham syndrome
Nephrotic syndrome, type 4
Wilms tumor 1
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA064260

rs_554416372

4 SubmittersRCV000462501 RCV001107841 RCV001107842 RCV001107843 RCV004965469 RCV004591296

NM_024426.6(WT1):c.421C>T (p.Pro141Ser)

SNV
Germline

Chr11:32434940

Conflicting classifications of pathogenicity

Wilms tumor 1
11p partial monosomy syndrome
Drash syndrome
Frasier syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA064922

rs_750548251

4 SubmittersRCV000471816 RCV001770319 RCV002256256

NM_001040108.2(MLH3):c.2425A>G (p.Met809Val)

SNV
Germline

Chr14:75047231

Conflicting classifications of pathogenicity

Colorectal cancer, hereditary nonpolyposis, type 7
Condition: not provided
Malignant tumor of breast
not specified
Lynch syndrome 1
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA7275709

rs_61752722

9 SubmittersRCV001119882 RCV001354157 RCV001270153 RCV002268106 RCV002463679 RCV005235348

NM_004958.4(MTOR):c.7280T>C (p.Leu2427Pro)

SNV
Germline/somatic

Chr1:11114338

Pathogenic

Isolated focal cortical dysplasia type II
CEBALID syndrome
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes

Reviewed By Expert Panel

CA338380762

rs_1085307113

3 SubmittersRCV000477731 RCV001260513 RCV001836827

NM_022552.5(DNMT3A):c.2311C>T (p.Arg771Ter)

SNV
Germline

Chr2:25240313

Pathogenic

Condition: not provided
Tatton-Brown-Rahman overgrowth syndrome
Acute myeloid leukemia

Criteria Provided
Multiple Submitters
No Conflicts

CA1555658

rs_779626155

5 SubmittersRCV000486209 RCV001237885 RCV003338604

NM_000251.3(MSH2):c.-8G>T

SNV
Germline

Chr2:47403184

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
MSH2-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA16617542

rs_1064795641

7 SubmittersRCV000483429 RCV000775786 RCV001865467 RCV005248062 RCV004535525 RCV001778977

NM_000251.3(MSH2):c.-2A>C

SNV
Germline

Chr2:47403190

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA16617543

rs_906564011

5 SubmittersRCV000486780 RCV000569764 RCV001865451 RCV005248057

NM_000251.3(MSH2):c.47A>C (p.Glu16Ala)

SNV
Germline

Chr2:47403238

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA038939

rs_745771647

7 SubmittersRCV000540608 RCV000484013 RCV002329151 RCV003464016 RCV004003345

NM_000251.3(MSH2):c.62G>T (p.Arg21Leu)

SNV
Germline

Chr2:47403253

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA16617546

rs_730881760

6 SubmittersRCV000485060 RCV000552453 RCV000572631 RCV004800420 RCV004568168

NM_000251.3(MSH2):c.72G>C (p.Gln24His)

SNV
Germline

Chr2:47403263

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA16617547

rs_1064794928

5 SubmittersRCV000479166 RCV000569588 RCV004003346 RCV001062881

NM_000251.3(MSH2):c.100G>A (p.Val34Met)

SNV
Germline

Chr2:47403291

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA16617548

rs_1064793541

7 SubmittersRCV000484906 RCV001037181 RCV001016981 RCV004002277 RCV005365347

NM_000251.3(MSH2):c.103C>G (p.Arg35Gly)

SNV
Germline

Chr2:47403294

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Muir-Torré syndrome
Mismatch repair cancer syndrome 2
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA16617549

rs_1060502034

6 SubmittersRCV000483915 RCV000579393 RCV000629871 RCV005398701 RCV004806367

NM_000251.3(MSH2):c.128A>T (p.Tyr43Phe)

SNV
Germline

Chr2:47403319

Conflicting classifications of pathogenicity

Condition: not provided
Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Malignant tumor of breast
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA16617550

rs_17217723

9 SubmittersRCV000484092 RCV005600948 RCV000564344 RCV000811394 RCV001358224 RCV004806362

NM_000251.3(MSH2):c.422T>C (p.Met141Thr)

SNV
Germline

Chr2:47410149

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA038657

rs_768313658

7 SubmittersRCV000759834 RCV000773079 RCV001246708 RCV003470539 RCV004002296

NM_000251.3(MSH2):c.440T>G (p.Val147Gly)

SNV
Germline

Chr2:47410167

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
MSH2-related disorder
Muir-Torré syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA038774

rs_760851623

9 SubmittersRCV000588981 RCV000771216 RCV001051880 RCV004535515 RCV005355946 RCV004003339

NM_000251.3(MSH2):c.743A>G (p.Lys248Arg)

SNV
Germline

Chr2:47412511

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA16617562

rs_1064794704

10 SubmittersRCV000757471 RCV000775779 RCV001824799 RCV001046068 RCV004735561

NM_000251.3(MSH2):c.818T>C (p.Val273Ala)

SNV
Germline

Chr2:47414294

Conflicting classifications of pathogenicity

not specified
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA040789

rs_144288433

8 SubmittersRCV000480961 RCV000558255 RCV000566262 RCV000656874 RCV001250426

NM_000251.3(MSH2):c.942+3A>G

SNV
Germline

Chr2:47414421

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Muir-Torré syndrome
Hereditary nonpolyposis colon cancer

Criteria Provided
Conflicting Classifications

CA16617570

rs_193922376

8 SubmittersRCV000479341 RCV000530947 RCV001019334 RCV003463979 RCV005355921 RCV003387853

NM_000251.3(MSH2):c.1045C>A (p.Pro349Thr)

SNV
Germline

Chr2:47416398

Likely pathogenic

Condition: not provided
Endometrial carcinoma
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA16617573

rs_267607939

4 SubmittersRCV000480250 RCV001355929 RCV003485590 RCV003766712

NM_000251.3(MSH2):c.1087G>T (p.Val363Leu)

SNV
Germline

Chr2:47429752

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA026946

rs_377345366

9 SubmittersRCV000479898 RCV000561329 RCV000629790 RCV001821392 RCV004002282

NM_000251.3(MSH2):c.1159C>T (p.Leu387Phe)

SNV
Germline

Chr2:47429824

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA027116

rs_751249745

6 SubmittersRCV000478467 RCV000559869 RCV000567051 RCV003463981 RCV004002270

NM_000251.3(MSH2):c.1315C>G (p.Pro439Ala)

SNV
Germline

Chr2:47445586

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome
Lynch syndrome 1
Muir-Torré syndrome
Mismatch repair cancer syndrome 2

Criteria Provided
Conflicting Classifications

CA16617576

rs_786203116

7 SubmittersRCV001851231 RCV001030709 RCV000487340 RCV001010926 RCV004003373 RCV005027555

NM_000251.3(MSH2):c.1387G>A (p.Val463Met)

SNV
Germline

Chr2:47463031

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA16617578

rs_1064793825

5 SubmittersRCV000478449 RCV000572368 RCV001210873 RCV004002297

NM_000251.3(MSH2):c.1432C>T (p.Leu478Phe)

SNV
Germline

Chr2:47463076

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA16617579

rs_1051194508

6 SubmittersRCV000485109 RCV000572164 RCV000698504 RCV003470555 RCV004003319

NM_000251.3(MSH2):c.1465G>T (p.Glu489Ter)

SNV
Germline

Chr2:47463109

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16617580

rs_876658187

4 SubmittersRCV000487159 RCV002395148 RCV002525793 RCV003449190

NM_000251.3(MSH2):c.1473G>T (p.Lys491Asn)

SNV
Germline

Chr2:47463117

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA16617581

rs_1064795039

5 SubmittersRCV001359758 RCV000480852 RCV000775781 RCV003470567

NM_000251.3(MSH2):c.1570C>T (p.Arg524Cys)

SNV
Germline/somatic

Chr2:47466717

Conflicting classifications of pathogenicity

not specified
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch-like syndrome
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA029597

rs_755818010

11 SubmittersRCV000484414 RCV000552575 RCV000569307 RCV000759820 RCV001250041 RCV004003360 RCV005248060

NM_000251.3(MSH2):c.1729A>G (p.Ile577Val)

SNV
Germline

Chr2:47471032

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA030657

rs_774985655

6 SubmittersRCV000581019 RCV000630236 RCV000484349 RCV004003366

NM_000251.3(MSH2):c.1765G>A (p.Val589Ile)

SNV
Germline

Chr2:47475030

Conflicting classifications of pathogenicity

not specified
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA16617588

rs_1064793981

8 SubmittersRCV000479480 RCV000551068 RCV000766532 RCV000581059 RCV003470543 RCV004002307

NM_000251.3(MSH2):c.1807G>C (p.Asp603His)

SNV
Germline

Chr2:47475072

Conflicting classifications of pathogenicity

Condition: not provided
Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA16617590

rs_63750657

6 SubmittersRCV000485623 RCV002280119 RCV001187838 RCV003758780

NM_000251.3(MSH2):c.1910C>G (p.Ser637Cys)

SNV
Germline

Chr2:47475175

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Muir-Torré syndrome
Mismatch repair cancer syndrome 2

Criteria Provided
Conflicting Classifications

CA16617596

rs_1064795992

5 SubmittersRCV001013660 RCV000482793 RCV000816301 RCV005027557

NM_000251.3(MSH2):c.1967A>C (p.Tyr656Ser)

SNV
Germline

Chr2:47475232

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA16617598

rs_185356145

8 SubmittersRCV000479030 RCV000688258 RCV001013864 RCV002230906 RCV003463995 RCV004002300

NM_000251.3(MSH2):c.1968C>A (p.Tyr656Ter)

SNV
Germline

Chr2:47475233

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16617599

rs_63751317

4 SubmittersRCV000482698 RCV000491519 RCV000791741 RCV003449192

NM_000251.3(MSH2):c.2298A>G (p.Ile766Met)

SNV
Germline

Chr2:47478359

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA16617601

rs_1064795116

6 SubmittersRCV000527665 RCV000563540 RCV000484269 RCV003464020 RCV004003352

NM_000251.3(MSH2):c.2459-2A>G

SNV
Germline

Chr2:47480694

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16617603

rs_267608011

4 SubmittersRCV000478491 RCV000491654 RCV001379380 RCV003449196

NM_000251.3(MSH2):c.2651T>C (p.Ile884Thr)

SNV
Germline

Chr2:47482795

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA16617611

rs_63750409

4 SubmittersRCV000549838 RCV000485019 RCV001016216 RCV004568150

NM_000179.3(MSH6):c.67G>C (p.Ala23Pro)

SNV
Germline

Chr2:47783300

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA16617616

rs_730881810

7 SubmittersRCV000482378 RCV000537973 RCV000565704 RCV004002285 RCV003387854

NM_000179.3(MSH6):c.95G>A (p.Gly32Asp)

SNV
Germline

Chr2:47783328

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA073654

rs_771426932

6 SubmittersRCV000479170 RCV000708720 RCV001238728 RCV005421926

NM_000179.3(MSH6):c.116G>C (p.Gly39Ala)

SNV
Germline

Chr2:47783349

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA067248

rs_1042821

4 SubmittersRCV000480607 RCV000823347 RCV002329143 RCV004002284

NM_000179.3(MSH6):c.175C>T (p.Pro59Ser)

SNV
Germline

Chr2:47783408

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Endometrial carcinoma
Lynch syndrome 5
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA068115

rs_761033647

7 SubmittersRCV000482176 RCV000557696 RCV000560960 RCV004568208 RCV005600951 RCV004003399

NM_000179.3(MSH6):c.389A>G (p.His130Arg)

SNV
Germline

Chr2:47791055

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA16617626

rs_1064793184

5 SubmittersRCV000482046 RCV000553070 RCV001183214 RCV004002246

NM_000179.3(MSH6):c.690A>G (p.Glu230=)

SNV
Germline

Chr2:47798673

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA16617634

rs_1064795970

5 SubmittersRCV001183212 RCV000481633 RCV003758791 RCV004003386

NM_000179.3(MSH6):c.817G>T (p.Gly273Ter)

SNV
Germline

Chr2:47798800

Pathogenic

Condition: not provided
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA16617637

rs_587779948

2 SubmittersRCV000483641 RCV004591426

NM_000179.3(MSH6):c.1025C>T (p.Ala342Val)

SNV
Germline

Chr2:47799008

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
not specified

Criteria Provided
Conflicting Classifications

CA067043

rs_753617680

6 SubmittersRCV000481708 RCV000697119 RCV000564150 RCV004806351 RCV005230939

NM_000179.3(MSH6):c.1069G>A (p.Asp357Asn)

SNV
Germline

Chr2:47799052

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Lynch syndrome
not specified

Criteria Provided
Conflicting Classifications

CA067106

rs_771529531

8 SubmittersRCV000485837 RCV000582356 RCV000629703 RCV003464014 RCV004003341 RCV005407142

NM_000179.3(MSH6):c.1078A>G (p.Ser360Gly)

SNV
Germline

Chr2:47799061

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome
Lynch syndrome 5
Endometrial carcinoma
Mismatch repair cancer syndrome 3

Criteria Provided
Conflicting Classifications

CA067126

rs_145994565

7 SubmittersRCV000563224 RCV000629709 RCV001704606 RCV004003316 RCV005398691

NM_000179.3(MSH6):c.1633A>G (p.Lys545Glu)

SNV
Germline

Chr2:47799616

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Endometrial carcinoma
Mismatch repair cancer syndrome 1
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Endometrial carcinoma
Lynch syndrome
Lynch syndrome 5
Endometrial carcinoma
Mismatch repair cancer syndrome 3

Criteria Provided
Conflicting Classifications

CA16617656

rs_1064793403

8 SubmittersRCV000479973 RCV000545794 RCV000765683 RCV000574287 RCV000659891 RCV003470532 RCV004002268 RCV005034011

NM_000179.3(MSH6):c.1637A>G (p.Glu546Gly)

SNV
Germline

Chr2:47799620

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA067957

rs_373554374

5 SubmittersRCV000487153 RCV000706852 RCV000582070 RCV004002289

NM_000179.3(MSH6):c.1714C>T (p.Gln572Ter)

SNV
Germline

Chr2:47799697

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA16617658

rs_1064795256

6 SubmittersRCV001036388 RCV001643202 RCV000487144 RCV002402404 RCV003449215

NM_000179.3(MSH6):c.1716G>T (p.Gln572His)

SNV
Germline

Chr2:47799699

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Mismatch repair cancer syndrome 3

Criteria Provided
Conflicting Classifications

CA068066

rs_745772518

6 SubmittersRCV000482393 RCV000705166 RCV000580006 RCV004806350 RCV005365346

NM_000179.3(MSH6):c.1933G>T (p.Glu645Ter)

SNV
Germline

Chr2:47799916

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA16617661

rs_1064795591

6 SubmittersRCV000490938 RCV000483556 RCV000685973 RCV003464024 RCV003449220

NM_000179.3(MSH6):c.2122G>T (p.Glu708Ter)

SNV
Germline

Chr2:47800105

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA16617667

rs_1064795960

3 SubmittersRCV000491313 RCV000486081 RCV003449238

NM_000179.3(MSH6):c.2195G>C (p.Arg732Pro)

SNV
Germline

Chr2:47800178

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Endometrial carcinoma
Lynch syndrome 5
Mismatch repair cancer syndrome 3
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA16617670

rs_749746725

6 SubmittersRCV000483131 RCV001238127 RCV000571852 RCV005034022 RCV004003395

NM_000179.3(MSH6):c.2300C>G (p.Thr767Ser)

SNV
Germline

Chr2:47800283

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Mismatch repair cancer syndrome 1
Endometrial carcinoma
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Lynch syndrome
Mismatch repair cancer syndrome 3
Endometrial carcinoma
Lynch syndrome 5
Condition: not provided
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA068793

rs_587781462

11 SubmittersRCV000580933 RCV000765686 RCV000542142 RCV000662407 RCV004002290 RCV005398686 RCV001284514 RCV004568160

NM_000179.3(MSH6):c.2302C>G (p.Pro768Ala)

SNV
Germline

Chr2:47800285

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA068796

rs_35946687

7 SubmittersRCV000481556 RCV001190572 RCV000822224 RCV004003355 RCV003470572

NM_000179.3(MSH6):c.2615T>C (p.Ile872Thr)

SNV
Germline

Chr2:47800598

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA16617678

rs_1064793342

6 SubmittersRCV000487290 RCV000552497 RCV000567884 RCV003470530 RCV004002264

NM_000179.3(MSH6):c.2648A>C (p.Lys883Thr)

SNV
Germline

Chr2:47800631

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA069399

rs_764816440

7 SubmittersRCV000484043 RCV000553546 RCV001016203 RCV004003343 RCV004568181

NM_000179.3(MSH6):c.2703T>G (p.Arg901=)

SNV
Germline

Chr2:47800686

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA16617682

rs_1064795083

4 SubmittersRCV000481296 RCV001016358 RCV002525869 RCV005426072

NM_000179.3(MSH6):c.2753A>G (p.His918Arg)

SNV
Germline

Chr2:47800736

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA069591

rs_754948438

7 SubmittersRCV000480774 RCV001071302 RCV000774604 RCV003387852 RCV003470525 RCV004002247

NM_000179.3(MSH6):c.2862C>G (p.Tyr954Ter)

SNV
Germline

Chr2:47800845

Pathogenic

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Endometrial carcinoma
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA16617684

rs_1064793671

5 SubmittersRCV000480127 RCV001381214 RCV002436530 RCV003463990 RCV003449184

NM_000179.3(MSH6):c.2989A>T (p.Lys997Ter)

SNV
Germline

Chr2:47800972

Pathogenic

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16617688

rs_1064794943

4 SubmittersRCV000478571 RCV001037717 RCV003449211 RCV002436544

NM_000179.3(MSH6):c.3062C>G (p.Ala1021Gly)

SNV
Germline

Chr2:47801045

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA070000

rs_63750287

9 SubmittersRCV000480054 RCV000767078 RCV000565319 RCV000706203 RCV004002266 RCV005421928

NM_000179.3(MSH6):c.3083C>G (p.Ser1028Ter)

SNV
Germline

Chr2:47801066

Pathogenic

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA16617691

rs_876660853

4 SubmittersRCV000481140 RCV000794243 RCV000491967 RCV003449218

NM_000179.3(MSH6):c.3254C>T (p.Thr1085Ile)

SNV
Germline

Chr2:47803501

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA16617694

rs_761724581

5 SubmittersRCV000484206 RCV001303106 RCV001019455 RCV004003333

NM_000179.3(MSH6):c.3257C>A (p.Pro1086His)

SNV
Germline

Chr2:47803504

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA070513

rs_780345806

6 SubmittersRCV000482150 RCV000570886 RCV004003362 RCV005600947 RCV000560746

NM_000179.3(MSH6):c.3442G>A (p.Gly1148Ser)

SNV
Germline/somatic

Chr2:47804913

Conflicting classifications of pathogenicity

Condition: not provided
Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA070946

rs_63750257

6 SubmittersRCV000478492 RCV000758613 RCV000561997 RCV000820952

NM_000179.3(MSH6):c.3524C>T (p.Thr1175Ile)

SNV
Germline

Chr2:47804995

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA071114

rs_369583604

7 SubmittersRCV000706792 RCV000484936 RCV000573926 RCV004568202 RCV004003383

NM_000179.3(MSH6):c.3977T>C (p.Met1326Thr)

SNV
Germline

Chr2:47806627

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA072409

rs_757089977

5 SubmittersRCV000480936 RCV000574295 RCV001348367 RCV004002305

NM_000179.3(MSH6):c.3992G>A (p.Arg1331Gln)

SNV
Germline

Chr2:47806642

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome
MSH6-related disorder

Criteria Provided
Conflicting Classifications

CA16617720

rs_184131049

10 SubmittersRCV000482748 RCV000491185 RCV000986744 RCV000707566 RCV003479136 RCV004003312 RCV004541518

NM_000179.3(MSH6):c.4002-10T>G

SNV
Germline

Chr2:47806769

Conflicting classifications of pathogenicity

Condition: not provided
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Mismatch repair cancer syndrome 3

Criteria Provided
Conflicting Classifications

CA16617724

rs_545466048

4 SubmittersRCV000479661 RCV004002302 RCV001081841 RCV005355933

NM_006218.4(PIK3CA):c.1048G>A (p.Asp350Asn)

SNV
Germline/somatic

Chr3:179203778

Pathogenic/Likely pathogenic

Condition: not provided
Megalencephaly-capillary malformation-polymicrogyria syndrome
PIK3CA related overgrowth syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16617847

rs_1064793349

5 SubmittersRCV000482573 RCV001849378 RCV003233647

NM_006218.4(PIK3CA):c.1093G>A (p.Glu365Lys)

SNV
Germline/somatic

Chr3:179204536

Pathogenic

Condition: not provided
Ovarian neoplasm
Cowden syndrome
Megalencephaly-capillary malformation-polymicrogyria syndrome
Angioosteohypertrophic syndrome
PIK3CA related overgrowth syndrome
PIK3CA-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA16617848

rs_1064793732

8 SubmittersRCV000484163 RCV000785369 RCV000798360 RCV001526558 RCV002254298 RCV005251138 RCV004535503

NM_000249.4(MLH1):c.-11C>T

SNV
Germline

Chr3:36993537

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Malignant tumor of breast
Colorectal cancer, hereditary nonpolyposis, type 2
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
not specified
Inherited MMR deficiency (Lynch syndrome)

Criteria Provided
Conflicting Classifications

CA16617877

rs_776898290

11 SubmittersRCV000588982 RCV000774690 RCV001057484 RCV003464015 RCV001357773 RCV002063755 RCV004596227 RCV004691784

NM_000249.4(MLH1):c.-8G>T

SNV
Germline

Chr3:36993540

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA038983

rs_761672073

5 SubmittersRCV000759815 RCV000773113 RCV004003309

NM_000249.4(MLH1):c.563C>T (p.Ala188Val)

SNV
Germline

Chr3:37011837

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
not specified
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA036814

rs_777971431

11 SubmittersRCV000484514 RCV000542526 RCV000574007 RCV003476160 RCV004526688 RCV005034014 RCV004003315

NM_000249.4(MLH1):c.2142G>A (p.Trp714Ter)

SNV
Germline

Chr3:37050524

Pathogenic

Condition: not provided
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA16616718

rs_63750978

11 SubmittersRCV000481539 RCV000588239 RCV000817498 RCV001805097 RCV002431389 RCV003449165

NM_001378615.1(CC2D2A):c.3869T>C (p.Val1290Ala)

SNV
Germline

Chr4:15580065

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
COACH syndrome 1
Meckel syndrome, type 6
Joubert syndrome 9
CC2D2A-related disorder

Criteria Provided
Conflicting Classifications

CA2864250

rs_200427832

6 SubmittersRCV000726978 RCV001081324 RCV000765762 RCV004535520

NM_001378615.1(CC2D2A):c.4729G>A (p.Ala1577Thr)

SNV
Germline

Chr4:15601291

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 6
Joubert syndrome 9
Retinitis pigmentosa 93
COACH syndrome 2
Inborn genetic diseases
CC2D2A-related disorder

Criteria Provided
Conflicting Classifications

CA2864468

rs_199695154

6 SubmittersRCV000479727 RCV001053315 RCV002496867 RCV002525868 RCV004541523

NM_000535.7(PMS2):c.1963G>A (p.Gly655Arg)

SNV
Germline

Chr7:5986802

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA16618496

rs_1064793236

7 SubmittersRCV000524811 RCV000484143 RCV000571850 RCV001354252 RCV004002251

NM_000535.7(PMS2):c.1765G>C (p.Asp589His)

SNV
Germline

Chr7:5987000

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Lynch syndrome 4
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA16618498

rs_749727182

10 SubmittersRCV000548259 RCV000561065 RCV000483031 RCV001821390 RCV003470536 RCV004002274

NM_000535.7(PMS2):c.1760G>T (p.Ser587Ile)

SNV
Germline

Chr7:5987005

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
not specified
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA16618499

rs_762100304

7 SubmittersRCV000480711 RCV001301313 RCV000780618 RCV000584439 RCV004003361

NM_000535.7(PMS2):c.1686T>A (p.Phe562Leu)

SNV
Germline

Chr7:5987079

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome 4
Mismatch repair cancer syndrome 4
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA16618503

rs_764749700

7 SubmittersRCV000482112 RCV000554303 RCV000771397 RCV002222525 RCV002481507 RCV004002306

NM_000535.7(PMS2):c.1131G>A (p.Leu377=)

SNV
Germline

Chr7:5989813

Conflicting classifications of pathogenicity

not specified
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA16618516

rs_1064794687

4 SubmittersRCV000481598 RCV001471671 RCV000766528 RCV005426068

NM_000535.7(PMS2):c.828C>A (p.Cys276Ter)

SNV
Germline

Chr7:5995609

Pathogenic

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16618521

rs_757324104

4 SubmittersRCV000487083 RCV000818334 RCV003449212 RCV002431407

NM_000535.7(PMS2):c.655G>T (p.Gly219Ter)

SNV
Germline

Chr7:5999158

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
PMS2-related disorder
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA16618526

rs_1064796190

7 SubmittersRCV000479716 RCV000629800 RCV002367652 RCV004698838 RCV003449240

NM_000535.7(PMS2):c.300G>C (p.Gln100His)

SNV
Germline

Chr7:6003743

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Mismatch repair cancer syndrome 4

Criteria Provided
Conflicting Classifications

CA16618536

rs_1064794102

5 SubmittersRCV000482334 RCV000629799 RCV000772632 RCV005044716

NM_000535.7(PMS2):c.248T>G (p.Leu83Ter)

SNV
Germline

Chr7:6003974

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA16618539

rs_1064794083

10 SubmittersRCV000484847 RCV000690271 RCV001188863 RCV004002311 RCV002466515

NM_000535.7(PMS2):c.163+1G>A

SNV
Germline

Chr7:6005891

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 4
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA16618542

rs_1064795705

7 SubmittersRCV000569035 RCV000481277 RCV003449226 RCV004806364 RCV005090959

NM_024426.6(WT1):c.1400G>A (p.Arg467Gln)

SNV
Germline

Chr11:32392019

Pathogenic/Likely pathogenic

Condition: not provided
Wilms tumor 1
Drash syndrome
Drash syndrome
Frasier syndrome
Wilms tumor 1
11p partial monosomy syndrome
Kidney disorder
WT1-related disorder
8 conditions
WT1-related Wilms tumor
Nephrotic syndrome, type 4

Criteria Provided
Multiple Submitters
No Conflicts

CA16619314

rs_121907903

10 SubmittersRCV000484903 RCV003147478 RCV003225075 RCV003766670 RCV002294337 RCV004551581 RCV002506163 RCV003458440 RCV005252906

NM_000321.3(RB1):c.607+1G>A

SNV
Germline

Chr13:48349024

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Retinoblastoma

Criteria Provided
Multiple Submitters
No Conflicts

CA16619811

rs_587776789

7 SubmittersRCV000483814 RCV000492670 RCV000786882 RCV002525820

NM_015272.5(RPGRIP1L):c.3446T>A (p.Ile1149Asn)

SNV
Germline

Chr16:53619195

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome 7
Meckel syndrome, type 5
COACH syndrome 3
RPGRIP1L-related disorder

Criteria Provided
Conflicting Classifications

CA8057283

rs_766943204

4 SubmittersRCV000484881 RCV001365284 RCV005018809 RCV004732897

NM_015272.5(RPGRIP1L):c.1660C>A (p.Leu554Ile)

SNV
Germline

Chr16:53656511

Conflicting classifications of pathogenicity

Joubert syndrome 7
COACH syndrome 1
Meckel syndrome, type 5
Joubert syndrome
Meckel-Gruber syndrome
RPGRIP1L-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8057740

rs_79524027

5 SubmittersRCV000765296 RCV000862031 RCV004535531 RCV001696865

NM_000377.3(WAS):c.273+1G>A

SNV
Germline

ChrX:48684424

Pathogenic

Condition: not provided
Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia
Thrombocytopenia 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16621418

rs_1064794076

2 SubmittersRCV000483001 RCV005222958

NM_000377.3(WAS):c.1453G>A (p.Asp485Asn)

SNV
Germline

ChrX:48689434

Pathogenic

Condition: not provided
Wiskott-Aldrich syndrome
Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia
Thrombocytopenia 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16621420

rs_1064793293

5 SubmittersRCV000482823 RCV000780796 RCV001038563

NM_018344.6(SLC29A3):c.300+1G>C

SNV
Germline

Chr10:71323055

Pathogenic

Condition: not provided
H syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA377129501

rs_587780463

2 SubmittersRCV000489914 RCV005252922

NM_000251.3(MSH2):c.1667T>G (p.Leu556Trp)

SNV
Germline

Chr2:47470970

Likely pathogenic

Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
MSH2-related disorder
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA346728044

rs_587779101

5 SubmittersRCV000490580 RCV001856915 RCV004722826 RCV002404286

NM_000251.3(MSH2):c.1865C>A (p.Pro622Gln)

SNV
Germline

Chr2:47475130

Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colon cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA346728465

rs_28929483

4 SubmittersRCV005056070 RCV002413352 RCV003449268 RCV004701551

NM_000251.3(MSH2):c.1979A>G (p.Asp660Gly)

SNV
Germline

Chr2:47475244

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA346728864

rs_1085308057

4 SubmittersRCV000490598 RCV000491547 RCV001039917

NM_000179.3(MSH6):c.362G>A (p.Arg121His)

SNV
Germline/somatic

Chr2:47791028

Conflicting classifications of pathogenicity

Lynch syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch-like syndrome
Mismatch repair cancer syndrome 3
Endometrial carcinoma
Lynch syndrome 5
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA071525

rs_769279475

10 SubmittersRCV004003433 RCV003235247 RCV001041513 RCV001249983 RCV002475965 RCV001020758 RCV003492074 RCV004568605

NM_000540.3(RYR1):c.4160+1G>A

SNV
Germline

Chr19:38473772

Conflicting classifications of pathogenicity

Hypotonia
Condition: not provided
King Denborough syndrome
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1
Congenital myopathy with fiber type disproportion
RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA405643333

rs_113460156

5 SubmittersRCV000490681 RCV004722827 RCV002489200 RCV003757181 RCV004806371

NM_001379500.1(COL18A1):c.1613G>T (p.Gly538Val)

SNV
Germline

Chr21:45481964

Likely pathogenic

Knobloch syndrome

Criteria Provided
Single Submitter

CA410518558

rs_1114167359

1 SubmittersRCV000490890

NM_000251.3(MSH2):c.211+1G>T

SNV
Germline

Chr2:47403403

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA346729068

rs_1114167883

7 SubmittersRCV000491082 RCV003449379 RCV000529790 RCV000507775

NM_000251.3(MSH2):c.391T>G (p.Phe131Val)

SNV
Germline

Chr2:47410118

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA038462

rs_755423698

4 SubmittersRCV000491136 RCV004003473 RCV000810636

NM_000251.3(MSH2):c.425C>A (p.Ser142Ter)

SNV
Germline

Chr2:47410152

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346730447

rs_63750910

3 SubmittersRCV000491309 RCV003449346

NM_000251.3(MSH2):c.471C>T (p.Gly157=)

SNV
Germline

Chr2:47410198

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA426119511

rs_61756463

6 SubmittersRCV000699922 RCV000491903 RCV000679312 RCV005248069

NM_000251.3(MSH2):c.509A>G (p.Gln170Arg)

SNV
Germline

Chr2:47410236

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
not specified

Criteria Provided
Conflicting Classifications

CA346730701

rs_1114167865

6 SubmittersRCV000491118 RCV004003472 RCV000985813 RCV001053469 RCV001532970

NM_000251.3(MSH2):c.646-1G>C

SNV
Germline

Chr2:47412413

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346731609

rs_1114167888

4 SubmittersRCV000490896 RCV001529396 RCV005443081

NM_000251.3(MSH2):c.940C>T (p.Gln314Ter)

SNV
Germline

Chr2:47414416

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Condition: not provided
Lynch syndrome 1
Muir-Torré syndrome
Mismatch repair cancer syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA346733020

rs_1114167845

6 SubmittersRCV000491147 RCV000693833 RCV003449366 RCV004701554 RCV005355987

NM_000251.3(MSH2):c.942+2T>A

SNV
Germline

Chr2:47414420

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346733028

rs_587779195

7 SubmittersRCV001229248 RCV000491819 RCV001800711 RCV003449349

NM_000251.3(MSH2):c.978G>A (p.Leu326=)

SNV
Germline

Chr2:47416331

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA425972748

rs_1060504418

5 SubmittersRCV000491008 RCV005248066 RCV000831597 RCV001082782

NM_000251.3(MSH2):c.1042C>T (p.Gln348Ter)

SNV
Germline

Chr2:47416395

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346733213

rs_979212552

5 SubmittersRCV000491540 RCV000538358 RCV001800712 RCV003449360

NM_000251.3(MSH2):c.1148G>A (p.Arg383Gln)

SNV
Germline

Chr2:47429813

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Lynch syndrome
not specified
MSH2-related disorder
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA027092

rs_376934727

8 SubmittersRCV000490918 RCV004787801 RCV004003471 RCV001264478 RCV004527600 RCV000704685

NM_000251.3(MSH2):c.1510+1G>A

SNV
Germline/somatic

Chr2:47463155

Pathogenic/Likely pathogenic

Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Familial cancer of breast
Lynch syndrome
Lynch-like syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA346727215

rs_1114167852

6 SubmittersRCV003449369 RCV000491735 RCV005091026 RCV005367350 RCV000780446 RCV001249922

NM_000251.3(MSH2):c.1684G>C (p.Glu562Gln)

SNV
Germline

Chr2:47470987

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346728081

rs_1114167816

5 SubmittersRCV000491639 RCV001317601 RCV003464059 RCV004806373

NM_000251.3(MSH2):c.1684G>T (p.Glu562Ter)

SNV
Germline

Chr2:47470987

Pathogenic

Hereditary cancer-predisposing syndrome
Gastric cancer
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346728082

rs_1114167816

4 SubmittersRCV000491179 RCV003159593 RCV003449344

NM_000251.3(MSH2):c.1757C>G (p.Ser586Ter)

SNV
Germline

Chr2:47471060

Pathogenic

Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA346728237

rs_1114167854

4 SubmittersRCV003449370 RCV000491644 RCV005091027 RCV000657671

NM_000251.3(MSH2):c.1901T>G (p.Leu634Ter)

SNV
Germline

Chr2:47475166

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Carcinoma of colon

Criteria Provided
Multiple Submitters
No Conflicts

CA346728596

rs_1114167811

4 SubmittersRCV000490923 RCV003449341 RCV000502231

NM_000251.3(MSH2):c.1933C>T (p.Gln645Ter)

SNV
Germline

Chr2:47475198

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA346728706

rs_267607982

4 SubmittersRCV000491204 RCV001237307 RCV003449338 RCV000520348

NM_000251.3(MSH2):c.2041C>T (p.Gln681Ter)

SNV
Germline

Chr2:47476402

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA346729133

rs_730881762

5 SubmittersRCV000586396 RCV000491607 RCV003449362 RCV000520788 RCV000541933

NM_000251.3(MSH2):c.2065G>C (p.Ala689Pro)

SNV
Germline

Chr2:47476426

Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346729173

rs_914610419

2 SubmittersRCV000490892 RCV003449361

NM_000251.3(MSH2):c.2074G>T (p.Gly692Trp)

SNV
Germline/somatic

Chr2:47476435

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA346729189

rs_63750232

5 SubmittersRCV000490880 RCV000659883 RCV001209603 RCV000664310

NM_000251.3(MSH2):c.2081T>C (p.Phe694Ser)

SNV
Germline

Chr2:47476442

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA346729201

rs_1114167857

5 SubmittersRCV000491777 RCV001356221 RCV003593972 RCV004806374

NM_000251.3(MSH2):c.2105T>A (p.Val702Glu)

SNV
Germline

Chr2:47476466

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346729242

rs_587779137

5 SubmittersRCV000491379 RCV004999530 RCV001215708 RCV003449383

NM_000251.3(MSH2):c.2335A>G (p.Met779Val)

SNV
Germline

Chr2:47478396

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346729926

rs_1114167843

7 SubmittersRCV000491512 RCV001343493 RCV001796075 RCV002248720 RCV004003469

NM_000251.3(MSH2):c.2402A>C (p.His801Pro)

SNV
Germline

Chr2:47478463

Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346730191

rs_1114167875

2 SubmittersRCV000490997 RCV003449375

NM_000251.3(MSH2):c.2487T>G (p.His829Gln)

SNV
Germline

Chr2:47480724

Conflicting classifications of pathogenicity

Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA46707640

rs_989510855

3 SubmittersRCV003470605 RCV000492018 RCV000691228

NM_000251.3(MSH2):c.2635-1G>A

SNV
Germline

Chr2:47482778

Pathogenic/Likely pathogenic

Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA346731306

rs_267608020

3 SubmittersRCV003449378 RCV000491804

NM_000251.3(MSH2):c.2635-1G>C

SNV
Germline

Chr2:47482778

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346731308

rs_267608020

3 SubmittersRCV000491490 RCV001069463 RCV003449376

NM_000179.3(MSH6):c.16A>C (p.Thr6Pro)

SNV
Germline

Chr2:47783249

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
MSH6-related disorder
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA068021

rs_200944853

8 SubmittersRCV000490967 RCV004535548 RCV000549468 RCV003464056 RCV000759128 RCV004003459

NM_000179.3(MSH6):c.154G>T (p.Glu52Ter)

SNV
Germline

Chr2:47783387

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA346734949

rs_1114167719

4 SubmittersRCV000491318 RCV003449303 RCV001383954 RCV003470600

NM_000179.3(MSH6):c.377C>G (p.Ser126Ter)

SNV
Germline

Chr2:47791043

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346737042

rs_1114167689

3 SubmittersRCV000703232 RCV000491879 RCV003449282

NM_000179.3(MSH6):c.478C>T (p.Gln160Ter)

SNV
Germline

Chr2:47795914

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA346738597

rs_1114167692

3 SubmittersRCV000490864 RCV003449285 RCV001062160

NM_000179.3(MSH6):c.628-2A>G

SNV
Germline

Chr2:47798609

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA346739195

rs_1114167725

4 SubmittersRCV000491365 RCV001001010 RCV003449307 RCV000690593

NM_000179.3(MSH6):c.952G>T (p.Glu318Ter)

SNV
Germline

Chr2:47798935

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA346740848

rs_1114167763

3 SubmittersRCV000491698 RCV003449321 RCV001387270

NM_000179.3(MSH6):c.1012A>T (p.Arg338Ter)

SNV
Germline

Chr2:47798995

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA346741265

rs_1114167804

4 SubmittersRCV000491015 RCV003449337 RCV001063240 RCV003441895

NM_000179.3(MSH6):c.1115G>A (p.Trp372Ter)

SNV
Germline

Chr2:47799098

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Endometrial carcinoma
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346741989

rs_1114167731

7 SubmittersRCV000491992 RCV003464049 RCV001851339 RCV001782978 RCV003449310

NM_000179.3(MSH6):c.1170T>A (p.Asp390Glu)

SNV
Germline

Chr2:47799153

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA067253

rs_55882234

4 SubmittersRCV000491971 RCV001805109 RCV002523981 RCV004003461

NM_000179.3(MSH6):c.1243C>T (p.Gln415Ter)

SNV
Germline

Chr2:47799226

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA346743776

rs_1114167756

6 SubmittersRCV000657749 RCV000490843 RCV000812630 RCV003449317 RCV004003458

NM_000179.3(MSH6):c.1299T>G (p.Tyr433Ter)

SNV
Germline

Chr2:47799282

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Carcinoma of colon
Endometrial carcinoma
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346744258

rs_267608055

6 SubmittersRCV001223369 RCV000502404 RCV003464055 RCV000491745 RCV001786392 RCV003449318

NM_000179.3(MSH6):c.1450G>T (p.Glu484Ter)

SNV
Germline

Chr2:47799433

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Endometrial carcinoma
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346745692

rs_587782706

5 SubmittersRCV000491319 RCV003464058 RCV001865528 RCV003449325

NM_000179.3(MSH6):c.1505T>C (p.Ile502Thr)

SNV
Germline

Chr2:47799488

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA067775

rs_749012012

6 SubmittersRCV000491991 RCV005208137 RCV000523733 RCV000792665 RCV004806372

NM_000179.3(MSH6):c.1607G>C (p.Ser536Thr)

SNV
Germline

Chr2:47799590

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346746995

rs_587782352

5 SubmittersRCV000822280 RCV003464048 RCV000491862 RCV004003456

NM_000179.3(MSH6):c.1969C>T (p.Gln657Ter)

SNV
Germline

Chr2:47799952

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colon cancer
Lynch syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA346750600

rs_1114167709

8 SubmittersRCV001204100 RCV003449296 RCV000491722 RCV001293606 RCV004003454 RCV000494682

NM_000179.3(MSH6):c.2555A>C (p.Lys852Thr)

SNV
Germline

Chr2:47800538

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA346754603

rs_1114167796

6 SubmittersRCV000491145 RCV000759134 RCV004003466 RCV000705526

NM_000179.3(MSH6):c.2910G>A (p.Trp970Ter)

SNV
Germline

Chr2:47800893

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346756153

rs_765411990

6 SubmittersRCV000657724 RCV000491637 RCV005401469 RCV003114616 RCV003449331

NM_000179.3(MSH6):c.3064G>T (p.Glu1022Ter)

SNV
Germline

Chr2:47801047

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346756531

rs_1114167724

3 SubmittersRCV000491094 RCV000697041 RCV003449306

NM_000179.3(MSH6):c.3088A>T (p.Lys1030Ter)

SNV
Germline

Chr2:47801071

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
MSH6-related disorder
Condition: not provided
Endometrial carcinoma
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346756575

rs_1114167707

7 SubmittersRCV000491165 RCV001383493 RCV004541540 RCV001284660 RCV003464045 RCV003449293

NM_000179.3(MSH6):c.3098T>A (p.Met1033Lys)

SNV
Germline

Chr2:47801081

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided

Criteria Provided
Conflicting Classifications

CA346756599

rs_751035257

4 SubmittersRCV000490990 RCV000659893 RCV001865529 RCV000521749

NM_000179.3(MSH6):c.3172+1G>A

SNV
Germline

Chr2:47801156

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA346756752

rs_587779255

4 SubmittersRCV000491302 RCV001390928 RCV003449283 RCV004591436

NM_000179.3(MSH6):c.3173-1G>A

SNV
Germline

Chr2:47803419

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA346757809

rs_397515875

3 SubmittersRCV000490839 RCV003449319 RCV001856943

NM_000179.3(MSH6):c.3226C>G (p.Arg1076Gly)

SNV
Germline

Chr2:47803473

Pathogenic/Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA070417

rs_63750617

6 SubmittersRCV000504512 RCV000491655 RCV000759862 RCV000629920

NM_000179.3(MSH6):c.3358G>T (p.Glu1120Ter)

SNV
Germline

Chr2:47803605

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346758771

rs_1114167793

3 SubmittersRCV000491480 RCV005091022 RCV003449335

NM_000179.3(MSH6):c.3439-2A>T

SNV
Germline

Chr2:47804908

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA346759882

rs_267608098

3 SubmittersRCV000491972 RCV003449312 RCV000703833

NM_000179.3(MSH6):c.3539C>G (p.Ser1180Ter)

SNV
Germline

Chr2:47805010

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA071147

rs_766905993

4 SubmittersRCV000491840 RCV002467449 RCV003766761

NM_000179.3(MSH6):c.3557-1G>C

SNV
Germline

Chr2:47805617

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346760398

rs_1114167723

5 SubmittersRCV000491533 RCV001355461 RCV001851337 RCV003449305

NM_000179.3(MSH6):c.3626T>C (p.Leu1209Pro)

SNV
Germline

Chr2:47805687

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA346760597

rs_1114167688

5 SubmittersRCV004003451 RCV002523978 RCV000491433 RCV003449281

NM_000179.3(MSH6):c.3645A>G (p.Leu1215=)

SNV
Germline

Chr2:47805706

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA46717470

rs_267608113

4 SubmittersRCV000491632 RCV005426078 RCV005091021

NM_000179.3(MSH6):c.3722G>A (p.Cys1241Tyr)

SNV
Germline

Chr2:47806279

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA46719383

rs_1021631442

3 SubmittersRCV000491034 RCV000664316 RCV002523440

NM_000179.3(MSH6):c.3965A>T (p.Glu1322Val)

SNV
Germline

Chr2:47806615

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA072394

rs_763608368

4 SubmittersRCV000491543 RCV004003464 RCV001856944

NM_000179.3(MSH6):c.3968T>C (p.Phe1323Ser)

SNV
Germline

Chr2:47806618

Conflicting classifications of pathogenicity

Lynch syndrome 5
Endometrial carcinoma
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA46719891

rs_1051564593

7 SubmittersRCV003316642 RCV003464057 RCV000491517 RCV000759147 RCV004003460 RCV000797850

NM_000179.3(MSH6):c.4001+1G>C

SNV
Germline

Chr2:47806652

Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346761612

rs_1114167729

3 SubmittersRCV000490987 RCV000588908 RCV003449309

NM_001278716.2(FBXL4):c.1304G>A (p.Arg435Gln)

SNV
Germline

Chr6:98899281

Conflicting classifications of pathogenicity

Condition: not provided
Mitochondrial DNA depletion syndrome 13
Inborn genetic diseases
Leigh syndrome

Criteria Provided
Conflicting Classifications

CA3933489

rs_754142863

5 SubmittersRCV000493951 RCV000501572 RCV000623300 RCV004782406

NM_023936.2(MRPS34):c.37G>A (p.Glu13Lys)

SNV
Germline

Chr16:1773083

Likely pathogenic

Leigh syndrome
Combined oxidative phosphorylation deficiency 32

Criteria Provided
Single Submitter

CA394244567

rs_1131692037

3 SubmittersRCV000494696 RCV000505523

NM_153704.6(TMEM67):c.439C>T (p.Gln147Ter)

SNV
Germline

Chr8:93763874

Pathogenic

COACH syndrome 1

Criteria Provided
Single Submitter

CA371686349

rs_1554615516

1 SubmittersRCV000655938

NM_000251.3(MSH2):c.1215C>G (p.Tyr405Ter)

SNV
Germline

Chr2:47429880

Pathogenic

Carcinoma of colon
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346734032

rs_63751271

4 SubmittersRCV000501259 RCV002527179 RCV002358382 RCV003449400

NM_000251.3(MSH2):c.1882G>T (p.Gly628Ter)

SNV
Germline

Chr2:47475147

Pathogenic

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346728530

rs_371776176

4 SubmittersRCV000500134 RCV001384984 RCV002413374 RCV003449401

NM_000251.3(MSH2):c.2027C>T (p.Ser676Leu)

SNV
Unknown

Chr2:47476388

Likely pathogenic

Carcinoma of colon
Lynch syndrome 1

Criteria Provided
Single Submitter

CA346729109

rs_1057520735

2 SubmittersRCV000501150 RCV003449402

NM_000251.3(MSH2):c.2211-2A>G

SNV
Germline

Chr2:47478270

Pathogenic/Likely pathogenic

Carcinoma of colon
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colon cancer
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA46704739

rs_267608001

5 SubmittersRCV000504524 RCV000700706 RCV002431453 RCV001251330 RCV003449405

NM_000251.3(MSH2):c.2425G>T (p.Glu809Ter)

SNV
Germline

Chr2:47478486

Pathogenic/Likely pathogenic

Lynch syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA346730246

rs_202145681

6 SubmittersRCV000500713 RCV001353705 RCV001865590 RCV003449406 RCV002446975

NM_000251.3(MSH2):c.2656G>T (p.Glu886Ter)

SNV
Germline

Chr2:47482800

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346731415

rs_1230083633

5 SubmittersRCV000501100 RCV000808700 RCV002455962 RCV003449408

NM_000179.3(MSH6):c.2342C>T (p.Pro781Leu)

SNV
Germline

Chr2:47800325

Pathogenic/Likely pathogenic

Condition: not provided
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colon cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA346753452

rs_1553413710

5 SubmittersRCV000589271 RCV000664307 RCV002527180 RCV004023356 RCV004701565

NM_000179.3(MSH6):c.2949G>C (p.Glu983Asp)

SNV
Germline

Chr2:47800932

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA069854

rs_780485157

6 SubmittersRCV000499422 RCV000573654 RCV001350778 RCV005055121 RCV003470622

NM_000179.3(MSH6):c.3940C>T (p.Gln1314Ter)

SNV
Germline

Chr2:47806590

Pathogenic

Carcinoma of colon
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346761501

rs_1416452389

3 SubmittersRCV000499819 RCV003758803 RCV003449413

NM_000179.3(MSH6):c.3964G>T (p.Glu1322Ter)

SNV
Germline/somatic

Chr2:47806614

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Condition: not provided
Lynch-like syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA346761548

rs_1553333707

6 SubmittersRCV001035303 RCV002358383 RCV003449415 RCV001200630 RCV001249980

NM_000249.4(MLH1):c.794G>C (p.Arg265Pro)

SNV
Germline

Chr3:37017509

Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA352045762

rs_63751448

6 SubmittersRCV000567811 RCV000680199 RCV001355963 RCV001212266 RCV003449396

NM_000249.4(MLH1):c.1664T>G (p.Leu555Arg)

SNV
Germline

Chr3:37040291

Pathogenic/Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA352060764

rs_587778937

3 SubmittersRCV000499458 RCV002395211 RCV003758801

NM_000535.7(PMS2):c.538-1G>C

SNV
Germline

Chr7:5999276

Pathogenic/Likely pathogenic

Endometrial carcinoma
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Mismatch repair cancer syndrome 4
Lynch syndrome 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA153242095

rs_988423880

9 SubmittersRCV000500977 RCV000772161 RCV000818274 RCV004806377 RCV001523839 RCV003449416 RCV003126761

NM_000535.7(PMS2):c.299A>G (p.Gln100Arg)

SNV
Germline/somatic

Chr7:6003744

Conflicting classifications of pathogenicity

Endometrial carcinoma
Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA366744629

rs_747771951

5 SubmittersRCV001355159 RCV000758690 RCV002438213 RCV001857068

NM_022552.5(DNMT3A):c.2598-3C>T

SNV
Germline

Chr2:25234423

Conflicting classifications of pathogenicity

not specified
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A-related disorder

Criteria Provided
Conflicting Classifications

CA1555505

rs_371855601

3 SubmittersRCV000499457 RCV002527239 RCV003900041

NM_022552.5(DNMT3A):c.1491T>C (p.Cys497=)

SNV
Germline

Chr2:25245316

Conflicting classifications of pathogenicity

not specified
Inborn genetic diseases
DNMT3A-related disorder
Tatton-Brown-Rahman overgrowth syndrome

Criteria Provided
Conflicting Classifications

CA1555984

rs_375421208

4 SubmittersRCV000501518 RCV005328287 RCV003915371 RCV002527240

NM_022552.5(DNMT3A):c.1155G>A (p.Pro385=)

SNV
Germline

Chr2:25246744

Conflicting classifications of pathogenicity

Tatton-Brown-Rahman overgrowth syndrome
not specified
DNMT3A-related disorder
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1556117

rs_368009374

6 SubmittersRCV000945500 RCV000503622 RCV003960160 RCV001534819 RCV004975587

NM_022552.5(DNMT3A):c.1015-4C>T

SNV
Germline

Chr2:25247162

Conflicting classifications of pathogenicity

not specified
Tatton-Brown-Rahman overgrowth syndrome

Criteria Provided
Conflicting Classifications

CA645372359

rs_771608861

2 SubmittersRCV000500562 RCV003746529

NM_000377.3(WAS):c.1080A>C (p.Pro360=)

SNV
Germline

ChrX:48688808

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Thrombocytopenia 1
Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia

Criteria Provided
Conflicting Classifications

CA516356386

rs_1409607754

4 SubmittersRCV000501304 RCV003326446 RCV003766858

NM_001278716.2(FBXL4):c.1232G>A (p.Cys411Tyr)

SNV
Germline

Chr6:98899353

Pathogenic/Likely pathogenic

Mitochondrial DNA depletion syndrome 13
Condition: not provided
Leigh syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA3933499

rs_773850151

7 SubmittersRCV000499421 RCV001591147 RCV004800434

NM_001379500.1(COL18A1):c.2368C>T (p.Arg790Ter)

SNV
Germline

Chr21:45494560

Pathogenic

Retinal dystrophy
Condition: not provided
Knobloch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA410497580

rs_1555870809

3 SubmittersRCV000504887 RCV002524405 RCV001805122

NM_022552.5(DNMT3A):c.2312G>A (p.Arg771Gln)

SNV
Germline

Chr2:25240312

Pathogenic/Likely pathogenic

Tatton-Brown-Rahman overgrowth syndrome
Inborn genetic diseases
Heyn-Sproul-Jackson syndrome
Acute myeloid leukemia
Tatton-Brown-Rahman overgrowth syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA1555657

rs_757823678

4 SubmittersRCV000505187 RCV000624769 RCV004796213

NM_024426.6(WT1):c.512G>T (p.Gly171Val)

SNV
Germline

Chr11:32434849

Likely pathogenic

Nephrotic syndrome, type 4
Frasier syndrome
Wilms tumor 1
11p partial monosomy syndrome
Drash syndrome

Criteria Provided
Single Submitter

CA379964820

rs_1554946480

2 SubmittersRCV000505662 RCV001377140

NM_000251.3(MSH2):c.43G>A (p.Ala15Thr)

SNV
Germline

Chr2:47403234

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346728542

rs_1183892581

5 SubmittersRCV001764503 RCV002329207 RCV000630170 RCV003470639

NM_000251.3(MSH2):c.1331G>A (p.Arg444His)

SNV
Germline

Chr2:47445602

Conflicting classifications of pathogenicity

Lynch syndrome 1
Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided

Criteria Provided
Conflicting Classifications

CA346724650

rs_557339938

7 SubmittersRCV000986669 RCV004003546 RCV000572189 RCV000541857 RCV005000053

NM_000251.3(MSH2):c.2014A>G (p.Met672Val)

SNV
Germline

Chr2:47476375

Conflicting classifications of pathogenicity

not specified
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA033352

rs_763690339

5 SubmittersRCV000508402 RCV001865650 RCV003159641 RCV004003547

NM_000251.3(MSH2):c.2152C>G (p.Gln718Glu)

SNV
Germline

Chr2:47476513

Conflicting classifications of pathogenicity

not specified
Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA346729326

rs_587779139

6 SubmittersRCV000508020 RCV004003548 RCV000776722 RCV001539955 RCV002527341

NM_000251.3(MSH2):c.2228C>T (p.Ser743Leu)

SNV
Germline/somatic

Chr2:47478289

Conflicting classifications of pathogenicity

not specified
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Lynch-like syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Mismatch repair cancer syndrome 2
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA346729718

rs_63751155

6 SubmittersRCV000507559 RCV003449448 RCV001219215 RCV001250042 RCV002431464 RCV005356029

NM_000251.3(MSH2):c.2251G>C (p.Gly751Arg)

SNV
Germline

Chr2:47478312

Likely pathogenic

Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary nonpolyposis colon cancer
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA346729765

rs_63751119

7 SubmittersRCV000680198 RCV003593976 RCV000508314 RCV005407662 RCV001014940

NM_000179.3(MSH6):c.105C>T (p.Ala35=)

SNV
Germline

Chr2:47783338

Conflicting classifications of pathogenicity

not specified
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA46687949

rs_998365223

7 SubmittersRCV000506243 RCV000630399 RCV000772631 RCV005421961 RCV004806382

NM_000179.3(MSH6):c.1281C>T (p.Tyr427=)

SNV
Germline

Chr2:47799264

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA426120892

rs_1553412720

6 SubmittersRCV000508339 RCV001183219 RCV001547114 RCV002524905 RCV005421962

NM_000179.3(MSH6):c.2677C>G (p.Leu893Val)

SNV
Germline

Chr2:47800660

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA069423

rs_370754319

5 SubmittersRCV000506119 RCV001179711 RCV000794150 RCV004003551

NM_000179.3(MSH6):c.3809T>C (p.Met1270Thr)

SNV
Germline

Chr2:47806459

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA072173

rs_777617756

5 SubmittersRCV000506284 RCV000570265 RCV001298248 RCV004568650 RCV004802111

NM_000249.4(MLH1):c.454-10T>G

SNV
Germline

Chr3:37008804

Conflicting classifications of pathogenicity

not specified
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA542218413

rs_1260098414

4 SubmittersRCV000506460 RCV001392293 RCV004003543 RCV005421960

NM_000535.7(PMS2):c.709C>T (p.Gln237Ter)

SNV
Germline

Chr7:5997420

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA366743790

rs_1458321358

9 SubmittersRCV000507540 RCV000530268 RCV000662813 RCV001026032 RCV004003553

NM_000535.7(PMS2):c.241G>T (p.Glu81Ter)

SNV
Germline

Chr7:6003981

Pathogenic

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colon cancer
Gastric cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA366744765

rs_730881919

12 SubmittersRCV000505890 RCV000550672 RCV000662778 RCV001182957 RCV002305497 RCV003114636 RCV003159643

NM_000179.3(MSH6):c.1795G>T (p.Gly599Ter)

SNV
Germline

Chr2:47799778

Pathogenic

not specified
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346749316

rs_756043669

4 SubmittersRCV000507042 RCV000657686 RCV004943939 RCV003449451

NM_000377.3(WAS):c.1208C>T (p.Pro403Leu)

SNV
Germline

ChrX:48688936

Conflicting classifications of pathogenicity

Condition: not provided
Thrombocytopenia 1
Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia
WAS-related disorder
Wiskott-Aldrich syndrome

Criteria Provided
Conflicting Classifications

CA10404051

rs_782666797

7 SubmittersRCV000513228 RCV000766095 RCV003419885 RCV004760547

NM_017547.4(FOXRED1):c.754C>T (p.Arg252Cys)

SNV
Germline

Chr11:126275814

Conflicting classifications of pathogenicity

Condition: not provided
Mitochondrial complex I deficiency, nuclear type 1
Leigh syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6354204

rs_146661281

5 SubmittersRCV000514034 RCV000763713 RCV004023480

NM_001303.4(COX10):c.1291C>T (p.Arg431Trp)

SNV
Germline

Chr17:14207172

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Mitochondrial complex IV deficiency, nuclear type 1
Leigh syndrome
COX10-related disorder

Criteria Provided
Conflicting Classifications

CA8402598

rs_113058506

8 SubmittersRCV000514768 RCV000603785 RCV001122055 RCV001122054 RCV003925530

NM_000249.4(MLH1):c.836T>G (p.Val279Gly)

SNV
Germline

Chr3:37017551

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA352046128

rs_1553646683

4 SubmittersRCV000515776 RCV001344438 RCV002438241

NM_001379500.1(COL18A1):c.107-12197G>A

SNV
Germline

Chr21:45456045

Conflicting classifications of pathogenicity

not specified
COL18A1-related disorder
Knobloch syndrome
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10065497

rs_200284308

9 SubmittersRCV000517619 RCV004553126 RCV000764262 RCV000766954 RCV002527466

NM_001379500.1(COL18A1):c.2158-9C>T

SNV
Germline

Chr21:45492526

Conflicting classifications of pathogenicity

not specified
Knobloch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10066861

rs_200143450

3 SubmittersRCV000517538 RCV001137170 RCV001438548

NM_000251.3(MSH2):c.645+2T>C

SNV
Germline

Chr2:47410374

Pathogenic/Likely pathogenic

Condition: not provided
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346731228

rs_876658996

6 SubmittersRCV000520097 RCV000606441 RCV001378494 RCV002367733 RCV004568669

NM_000251.3(MSH2):c.646-13T>C

SNV
Germline

Chr2:47412401

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
not specified
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA039794

rs_761205332

7 SubmittersRCV000521261 RCV000583363 RCV001356013 RCV001553591 RCV002060268 RCV004003605 RCV005248087

NM_000251.3(MSH2):c.999T>G (p.Cys333Trp)

SNV
Germline

Chr2:47416352

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346733125

rs_1553353167

3 SubmittersRCV000521057 RCV002384007 RCV003449485

NM_000251.3(MSH2):c.1153C>G (p.Pro385Ala)

SNV
Germline

Chr2:47429818

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA46702663

rs_763985746

8 SubmittersRCV000519754 RCV000547472 RCV001010007 RCV004568666 RCV004701594 RCV004806387

NM_000179.3(MSH6):c.931A>G (p.Lys311Glu)

SNV
Germline

Chr2:47798914

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346740754

rs_1323987464

4 SubmittersRCV000520147 RCV001066209 RCV002376964 RCV004806388

NM_000179.3(MSH6):c.1789G>T (p.Glu597Ter)

SNV
Germline

Chr2:47799772

Pathogenic

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346749280

rs_1553413178

3 SubmittersRCV000523447 RCV001036493 RCV003449482

NM_000179.3(MSH6):c.3797A>G (p.His1266Arg)

SNV
Germline

Chr2:47806354

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA346761190

rs_760023025

6 SubmittersRCV000522115 RCV000687772 RCV000777177 RCV004003593 RCV005426092

NM_000249.4(MLH1):c.753C>G (p.Tyr251Ter)

SNV
Germline

Chr3:37014507

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA352044147

rs_63750310

4 SubmittersRCV000519051 RCV002395243 RCV003449476 RCV005367366

NM_000249.4(MLH1):c.1667G>A (p.Ser556Asn)

SNV
Germline/somatic

Chr3:37040294

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch-like syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Colorectal cancer, hereditary nonpolyposis, type 2
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA352060789

rs_63751596

8 SubmittersRCV000520479 RCV001046224 RCV001249931 RCV001012628 RCV001093684 RCV003470652 RCV005398752

NM_000249.4(MLH1):c.1669G>A (p.Glu557Lys)

SNV
Germline

Chr3:37042269

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Conflicting Classifications

CA352061858

rs_63751244

6 SubmittersRCV000522677 RCV000548884 RCV000776165 RCV004003592 RCV003470648

NM_000535.7(PMS2):c.2275+1G>A

SNV
Germline

Chr7:5978595

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366736386

rs_1554294393

5 SubmittersRCV000520083 RCV000573476 RCV003449478

NM_000535.7(PMS2):c.1987G>T (p.Glu663Ter)

SNV
Germline

Chr7:5986778

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366738938

rs_1554297061

3 SubmittersRCV000521070 RCV000574914 RCV003449484

NM_000535.7(PMS2):c.3G>A (p.Met1Ile)

SNV
Germline

Chr7:6009017

Pathogenic

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366745251

rs_1554309086

5 SubmittersRCV000519055 RCV000535555 RCV000569016 RCV003449491

NM_024426.6(WT1):c.1120C>T (p.Arg374Ter)

SNV
Germline

Chr11:32396401

Pathogenic

Drash syndrome
Wilms tumor 1
11p partial monosomy syndrome
Frasier syndrome
Wilms tumor 1
Condition: not provided
Drash syndrome
Inborn genetic diseases
WT1-related Wilms tumor
WT1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA379960070

rs_1423753702

8 SubmittersRCV000653779 RCV000709138 RCV000523951 RCV000988515 RCV002527574 RCV003458448 RCV004553140

NM_001303.4(COX10):c.311C>T (p.Pro104Leu)

SNV
Germline

Chr17:14076868

Conflicting classifications of pathogenicity

Condition: not provided
Mitochondrial complex IV deficiency, nuclear type 1
Leigh syndrome
Mitochondrial complex IV deficiency, nuclear type 3

Criteria Provided
Conflicting Classifications

CA8402295

rs_202207627

7 SubmittersRCV000521510 RCV001127738 RCV001127737 RCV002476049

NM_000540.3(RYR1):c.9472+1G>A

SNV
Germline

Chr19:38512484

Pathogenic

Condition: not provided
Inborn genetic diseases
RYR1-related disorder
Congenital myopathy with fiber type disproportion
Malignant hyperthermia, susceptibility to, 1
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1
RYR1-related myopathy

Reviewed By Expert Panel

CA073621

rs_776697656

7 SubmittersRCV000522844 RCV001266974 RCV001858000 RCV002506276 RCV004003622 RCV004737600

NM_000540.3(RYR1):c.14129+1G>A

SNV
Germline

Chr19:38573308

Likely pathogenic

Condition: not provided
RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
Congenital myopathy with fiber type disproportion
King Denborough syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA060836

rs_142929172

4 SubmittersRCV000519097 RCV001851492 RCV002497013

NM_006941.4(SOX10):c.131C>G (p.Ala44Gly)

SNV
Germline

Chr22:37983654

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Waardenburg syndrome
PCWH syndrome
SOX10-related disorder

Criteria Provided
Conflicting Classifications

CA10228723

rs_747377284

5 SubmittersRCV000519667 RCV000767097 RCV001149119 RCV001149120 RCV004541634

NM_000377.3(WAS):c.778-6G>A

SNV
Germline

ChrX:48688294

Pathogenic

Condition: not provided
X-linked severe congenital neutropenia
Thrombocytopenia 1
Wiskott-Aldrich syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA658658985

rs_1557007011

2 SubmittersRCV000519975 RCV001387957

NM_000377.3(WAS):c.961C>T (p.Arg321Ter)

SNV
Germline

ChrX:48688689

Pathogenic

Condition: not provided
Thrombocytopenia 1
Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia
Wiskott-Aldrich syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA412872755

rs_1557007123

4 SubmittersRCV000520558 RCV000818878 RCV003155223

NM_001375834.1(WIPF1):c.1037C>T (p.Pro346Leu)

SNV
Germline

Chr2:174571768

Conflicting classifications of pathogenicity

Wiskott-Aldrich syndrome 2
Condition: not provided
WIPF1-related disorder

Criteria Provided
Conflicting Classifications

CA1974010

rs_149434153

6 SubmittersRCV000560718 RCV001796117 RCV003952837

NM_000251.3(MSH2):c.222T>A (p.Asn74Lys)

SNV
Germline

Chr2:47408411

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346729470

rs_1553350075

3 SubmittersRCV000537127 RCV003372741 RCV004003744

NM_000251.3(MSH2):c.808C>G (p.Leu270Val)

SNV
Germline

Chr2:47414284

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA040694

rs_758403441

4 SubmittersRCV000544343 RCV001764526 RCV002289719 RCV004023722

NM_000251.3(MSH2):c.951T>A (p.Val317=)

SNV
Germline

Chr2:47416304

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA425972522

rs_1553353105

6 SubmittersRCV000557307 RCV000563808 RCV004003757 RCV005248169

NM_000251.3(MSH2):c.35A>C (p.Glu12Ala)

SNV
Germline

Chr2:47403226

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346728510

rs_1553348722

3 SubmittersRCV000530789 RCV003362822 RCV003470713

NM_000251.3(MSH2):c.54C>T (p.Gly18=)

SNV
Germline

Chr2:47403245

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
not specified
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA426119374

rs_63750777

6 SubmittersRCV000544727 RCV000615504 RCV001024186 RCV005248163

NM_000251.3(MSH2):c.70C>G (p.Gln24Glu)

SNV
Germline

Chr2:47403261

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Mismatch repair cancer syndrome 2
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA346728646

rs_587779976

4 SubmittersRCV000560638 RCV000777268 RCV005398773

NM_000251.3(MSH2):c.166G>C (p.Glu56Gln)

SNV
Germline

Chr2:47403357

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346728981

rs_587779102

6 SubmittersRCV000525199 RCV001012654 RCV001260343 RCV003459177 RCV004003737

NM_000251.3(MSH2):c.1394A>G (p.Asn465Ser)

SNV
Germline

Chr2:47463038

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346726685

rs_1487094949

5 SubmittersRCV000557128 RCV000570076 RCV001798872 RCV003459175

NM_000251.3(MSH2):c.1405C>G (p.Leu469Val)

SNV
Germline

Chr2:47463049

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA028542

rs_780702096

7 SubmittersRCV000550095 RCV000575666 RCV001755785 RCV004003733 RCV004527635

NM_000251.3(MSH2):c.911T>C (p.Ile304Thr)

SNV
Germline

Chr2:47414387

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
MSH2-related disorder
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA46684227

rs_1021303606

6 SubmittersRCV000540995 RCV001185309 RCV001550959 RCV004527636 RCV004806415

NM_000251.3(MSH2):c.2303A>T (p.Glu768Val)

SNV
Germline

Chr2:47478364

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346729861

rs_1553369720

5 SubmittersRCV000535846 RCV000583359 RCV001770404 RCV005248151

NM_000251.3(MSH2):c.1267A>G (p.Lys423Glu)

SNV
Germline

Chr2:47429932

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
not specified

Criteria Provided
Conflicting Classifications

CA027338

rs_201059765

5 SubmittersRCV000547106 RCV000774563 RCV004003729 RCV005056137

NM_000251.3(MSH2):c.2412A>G (p.Ala804=)

SNV
Germline

Chr2:47478473

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Condition: not provided
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346730217

rs_141523959

5 SubmittersRCV000559989 RCV002456045 RCV004003748 RCV005000122 RCV005248152

NM_000251.3(MSH2):c.1367C>T (p.Thr456Ile)

SNV
Germline

Chr2:47445638

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA028117

rs_777963115

5 SubmittersRCV000532242 RCV000562767 RCV004003732 RCV004568716

NM_000251.3(MSH2):c.2684C>T (p.Pro895Leu)

SNV
Germline

Chr2:47482828

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Condition: not provided
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346731558

rs_786203553

7 SubmittersRCV000539916 RCV000561718 RCV001357777 RCV003441913 RCV003459180 RCV004806413

NM_000251.3(MSH2):c.1661+2T>C

SNV
Germline

Chr2:47466810

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colon cancer
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346728023

rs_1553366680

4 SubmittersRCV000559692 RCV002404370 RCV002509421 RCV003449535

NM_000251.3(MSH2):c.1783C>T (p.Leu595Phe)

SNV
Germline

Chr2:47475048

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Inherited polyposis and early onset colorectal cancer - germline testing
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346728296

rs_1553368514

6 SubmittersRCV000542666 RCV002404371 RCV003459178 RCV004764851 RCV004806409

NM_000179.3(MSH6):c.83C>T (p.Ser28Leu)

SNV
Germline

Chr2:47783316

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA073484

rs_750949635

5 SubmittersRCV000542898 RCV000567017 RCV003478110 RCV004003705

NM_000179.3(MSH6):c.229C>T (p.Arg77Trp)

SNV
Germline

Chr2:47783462

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Ovarian cancer
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA068784

rs_745442468

7 SubmittersRCV000525000 RCV000561728 RCV000759131 RCV003153676 RCV004003675 RCV004568705

NM_000179.3(MSH6):c.336C>A (p.Asn112Lys)

SNV
Germline

Chr2:47791002

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA346736958

rs_1182444882

8 SubmittersRCV000537161 RCV000575269 RCV000781599 RCV004003690 RCV005000117

NM_000179.3(MSH6):c.382C>T (p.Arg128Cys)

SNV
Germline

Chr2:47791048

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA346737052

rs_1251938412

5 SubmittersRCV000551898 RCV000776879 RCV003153678 RCV003226937

NM_000179.3(MSH6):c.458-5T>C

SNV
Germline

Chr2:47795889

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA658655684

rs_1553411388

3 SubmittersRCV000545597 RCV002341253 RCV005421998

NM_000251.3(MSH2):c.2563C>T (p.Gln855Ter)

SNV
Germline

Chr2:47480800

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346730930

rs_1553370404

5 SubmittersRCV000526846 RCV002431520 RCV003320673 RCV003449540

NM_000251.3(MSH2):c.2582A>T (p.Gln861Leu)

SNV
Germline

Chr2:47480819

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346731004

rs_1313098392

5 SubmittersRCV000547670 RCV001016009 RCV005620957 RCV004003749

NM_000251.3(MSH2):c.2661C>G (p.Phe887Leu)

SNV
Germline

Chr2:47482805

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346731442

rs_1290935051

6 SubmittersRCV000526536 RCV001193289 RCV002289718 RCV002431522 RCV004003750

NM_000179.3(MSH6):c.120C>G (p.Ala40=)

SNV
Germline

Chr2:47783353

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA067335

rs_777101467

6 SubmittersRCV000551703 RCV000568501 RCV004800446 RCV004806395 RCV005421967

NM_000179.3(MSH6):c.973C>T (p.Gln325Ter)

SNV
Germline

Chr2:47798956

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346740973

rs_1553412397

3 SubmittersRCV000546692 RCV002384034 RCV004592547

NM_000251.3(MSH2):c.14C>G (p.Pro5Arg)

SNV
Germline

Chr2:47403205

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346728432

rs_56170584

6 SubmittersRCV000546654 RCV000579789 RCV002274057 RCV004003736

NM_000251.3(MSH2):c.16A>G (p.Lys6Glu)

SNV
Germline

Chr2:47403207

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA030563

rs_777351049

8 SubmittersRCV000538201 RCV000562322 RCV000759824 RCV004003738 RCV004568717

NM_000251.3(MSH2):c.464T>G (p.Val155Gly)

SNV
Germline

Chr2:47410191

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346730532

rs_876658188

7 SubmittersRCV000527224 RCV000562713 RCV000781569 RCV001284653 RCV004806414

NM_000179.3(MSH6):c.746G>C (p.Arg249Thr)

SNV
Germline

Chr2:47798729

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346740105

rs_752135996

4 SubmittersRCV000552704 RCV000777228 RCV004003703

NM_000251.3(MSH2):c.613G>C (p.Glu205Gln)

SNV
Germline

Chr2:47410340

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA46678574

rs_63749984

6 SubmittersRCV000526049 RCV000579804 RCV001584241 RCV004003753 RCV005248165

NM_000179.3(MSH6):c.3159T>A (p.Cys1053Ter)

SNV
Germline

Chr2:47801142

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346756727

rs_767021188

2 SubmittersRCV000545511 RCV005620956

NM_000179.3(MSH6):c.3328C>A (p.Pro1110Thr)

SNV
Germline

Chr2:47803575

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA070657

rs_374070511

6 SubmittersRCV000546830 RCV000588861 RCV001186603 RCV004003689 RCV004568708

NM_000179.3(MSH6):c.3647-4A>C

SNV
Germline

Chr2:47806200

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA532705780

rs_1464965737

4 SubmittersRCV000559786 RCV002456043 RCV005426105 RCV004003696

NM_000251.3(MSH2):c.1354G>A (p.Glu452Lys)

SNV
Germline

Chr2:47445625

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Mismatch repair cancer syndrome 2
Muir-Torré syndrome
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA46660139

rs_267607954

6 SubmittersRCV000556329 RCV000567928 RCV002476086 RCV003478112 RCV004003731

NM_000179.3(MSH6):c.1168G>T (p.Asp390Tyr)

SNV
Germline

Chr2:47799151

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346742303

rs_147737737

4 SubmittersRCV000530454 RCV001185230 RCV004003659

NM_000251.3(MSH2):c.703A>G (p.Lys235Glu)

SNV
Germline

Chr2:47412471

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA040162

rs_749442037

6 SubmittersRCV000559155 RCV001025957 RCV001770405 RCV002248760 RCV004003754

NM_000251.3(MSH2):c.1771C>A (p.Pro591Thr)

SNV
Germline

Chr2:47475036

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346728271

rs_951988481

5 SubmittersRCV000534975 RCV000561432 RCV001572545 RCV004806408

NM_000251.3(MSH2):c.904T>A (p.Leu302Met)

SNV
Germline

Chr2:47414380

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346732951

rs_876660115

7 SubmittersRCV000527981 RCV000573534 RCV001800735 RCV003470714 RCV004003755

NM_000251.3(MSH2):c.1862G>A (p.Arg621Gln)

SNV
Germline/somatic

Chr2:47475127

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA031795

rs_759263820

7 SubmittersRCV000549787 RCV000663143 RCV001764525 RCV000575117 RCV000758651

NM_000251.3(MSH2):c.1440A>G (p.Glu480=)

SNV
Germline

Chr2:47463084

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA028675

rs_138049198

7 SubmittersRCV000570348 RCV000679291 RCV001078541 RCV004003735 RCV005248132

NM_000251.3(MSH2):c.1476G>A (p.Met492Ile)

SNV
Germline

Chr2:47463120

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346727075

rs_1553365792

4 SubmittersRCV000553969 RCV003159731 RCV003459176 RCV004806407

NM_000251.3(MSH2):c.1781C>T (p.Thr594Ile)

SNV
Germline

Chr2:47475046

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346728292

rs_1553368510

6 SubmittersRCV000525389 RCV000573132 RCV001139481 RCV004003739

NM_000251.3(MSH2):c.1792G>A (p.Val598Met)

SNV
Germline

Chr2:47475057

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA031369

rs_778152746

6 SubmittersRCV000556013 RCV000570637 RCV000588090 RCV003470712

NM_000251.3(MSH2):c.2201C>G (p.Ser734Cys)

SNV
Germline

Chr2:47476562

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome
not specified

Criteria Provided
Conflicting Classifications

CA346729424

rs_1553369204

6 SubmittersRCV000532179 RCV000568631 RCV001755787 RCV004003742 RCV004596236

NM_000251.3(MSH2):c.1892G>A (p.Arg631Lys)

SNV
Germline

Chr2:47475157

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1
Mismatch repair cancer syndrome 2
Muir-Torré syndrome
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346728562

rs_1361816581

8 SubmittersRCV000547904 RCV000568306 RCV001572130 RCV002481753 RCV004003740 RCV004568718

NM_000179.3(MSH6):c.2409C>G (p.Asp803Glu)

SNV
Germline

Chr2:47800392

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome
Mismatch repair cancer syndrome 3
Endometrial carcinoma
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA346753965

rs_1434270332

5 SubmittersRCV000547711 RCV001015434 RCV002282203 RCV004806398 RCV005398769

NM_000251.3(MSH2):c.2376T>A (p.Asn792Lys)

SNV
Germline

Chr2:47478437

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346730082

rs_1281667531

5 SubmittersRCV000553342 RCV000679305 RCV002456044 RCV004003745

NM_000179.3(MSH6):c.2894G>C (p.Arg965Thr)

SNV
Germline

Chr2:47800877

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA346756080

rs_1553414252

4 SubmittersRCV000532698 RCV005421980 RCV002438285 RCV003228942

NM_000251.3(MSH2):c.2504A>G (p.Asn835Ser)

SNV
Germline

Chr2:47480741

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA036330

rs_779729016

6 SubmittersRCV000550167 RCV000567964 RCV003459179 RCV004806410

NM_000179.3(MSH6):c.3303G>T (p.Lys1101Asn)

SNV
Germline

Chr2:47803550

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA070623

rs_370353868

6 SubmittersRCV000553191 RCV001019819 RCV001200628 RCV004806400

NM_000179.3(MSH6):c.118G>A (p.Ala40Thr)

SNV
Germline

Chr2:47783351

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
not specified
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346734863

rs_754231971

9 SubmittersRCV000543486 RCV000581858 RCV000662712 RCV000781584 RCV004791518 RCV004806394

NM_000179.3(MSH6):c.234A>G (p.Arg78=)

SNV
Germline

Chr2:47783467

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA426120860

rs_1553408414

3 SubmittersRCV000544766 RCV000563986 RCV005421975

NM_000179.3(MSH6):c.3394G>C (p.Val1132Leu)

SNV
Germline

Chr2:47803641

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA070770

rs_781676597

6 SubmittersRCV000525940 RCV000579610 RCV003225079 RCV004568709 RCV004003691

NM_000179.3(MSH6):c.153C>G (p.Ser51Arg)

SNV
Germline

Chr2:47783386

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA067823

rs_762061869

5 SubmittersRCV000526938 RCV002404365 RCV003222015 RCV004003664 RCV004568701

NM_000179.3(MSH6):c.3438+5C>G

SNV
Germline

Chr2:47803690

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 5
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA070850

rs_777420424

4 SubmittersRCV000534178 RCV001811027 RCV005421988 RCV002456041

NM_000179.3(MSH6):c.3556+6T>G

SNV
Germline

Chr2:47805033

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA071282

rs_767210715

3 SubmittersRCV000544799 RCV001190816 RCV004003695

NM_000179.3(MSH6):c.3646+2T>C

SNV
Germline

Chr2:47805709

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346760643

rs_1553332776

5 SubmittersRCV000530070 RCV000575306 RCV003449510

NM_000179.3(MSH6):c.733A>G (p.Ile245Val)

SNV
Germline

Chr2:47798716

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346740050

rs_762168786

4 SubmittersRCV000535308 RCV000571023 RCV004003702

NM_000179.3(MSH6):c.842G>T (p.Gly281Val)

SNV
Germline

Chr2:47798825

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA073491

rs_773445382

4 SubmittersRCV000531362 RCV000579639 RCV004003706

NM_000179.3(MSH6):c.1423C>T (p.Gln475Ter)

SNV
Germline

Chr2:47799406

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346745416

rs_1553412835

6 SubmittersRCV000551310 RCV001189638 RCV003449501

NM_000179.3(MSH6):c.3942A>G (p.Gln1314=)

SNV
Germline

Chr2:47806592

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA072347

rs_768042560

6 SubmittersRCV000537305 RCV000774617 RCV001140557

NM_000179.3(MSH6):c.945T>G (p.Ser315=)

SNV
Germline

Chr2:47798928

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA426120632

rs_761581941

10 SubmittersRCV000781580 RCV000827332 RCV000562002 RCV001079303 RCV005422006 RCV004003707

NM_000179.3(MSH6):c.1970A>G (p.Gln657Arg)

SNV
Germline

Chr2:47799953

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346750602

rs_1459883720

6 SubmittersRCV000534112 RCV000569127 RCV003488656 RCV004003668

NM_000179.3(MSH6):c.2584C>T (p.Leu862=)

SNV
Germline

Chr2:47800567

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA426121627

rs_1187393388

6 SubmittersRCV000777217 RCV000828065 RCV001083803 RCV005421977

NM_000179.3(MSH6):c.2599G>A (p.Val867Ile)

SNV
Germline

Chr2:47800582

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Endometrial carcinoma
Condition: not provided

Criteria Provided
Conflicting Classifications

CA069233

rs_745954217

6 SubmittersRCV000526734 RCV000567854 RCV004003680 RCV004568706 RCV005000115

NM_000179.3(MSH6):c.2146A>G (p.Thr716Ala)

SNV
Germline

Chr2:47800129

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome
MSH6-related disorder
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA068496

rs_749711246

9 SubmittersRCV000550483 RCV000572538 RCV001548306 RCV004003671 RCV004740307 RCV005367375

NM_000179.3(MSH6):c.2653A>G (p.Lys885Glu)

SNV
Germline

Chr2:47800636

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Endometrial carcinoma
Lynch syndrome
Condition: not provided
Mismatch repair cancer syndrome 3

Criteria Provided
Conflicting Classifications

CA346755166

rs_587782593

9 SubmittersRCV000529411 RCV000581939 RCV001000818 RCV003459169 RCV004003681 RCV004546513 RCV005357548

NM_000179.3(MSH6):c.2732G>A (p.Arg911Gln)

SNV
Germline

Chr2:47800715

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Condition: not provided
Endometrial carcinoma
Endometrial carcinoma
Lynch syndrome 5
Mismatch repair cancer syndrome 3

Criteria Provided
Conflicting Classifications

CA069556

rs_761622304

9 SubmittersRCV000560703 RCV000566003 RCV000708881 RCV001558112 RCV003459170 RCV005034080

NM_000179.3(MSH6):c.3014G>T (p.Arg1005Leu)

SNV
Germline

Chr2:47800997

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Endometrial carcinoma
Lynch syndrome 5
Mismatch repair cancer syndrome 3
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA346756426

rs_587782324

5 SubmittersRCV001805147 RCV002490940 RCV005600968 RCV000536357

NM_000179.3(MSH6):c.2741C>T (p.Thr914Ile)

SNV
Germline

Chr2:47800724

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Mismatch repair cancer syndrome 3
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346755398

rs_1553414094

5 SubmittersRCV000536613 RCV002289716 RCV002438282 RCV003478107 RCV004003682

NM_000179.3(MSH6):c.3796C>T (p.His1266Tyr)

SNV
Germline

Chr2:47806353

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Mismatch repair cancer syndrome 3
Endometrial carcinoma
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA46719551

rs_972387746

6 SubmittersRCV000548179 RCV001021161 RCV004003698 RCV005027625

NM_000179.3(MSH6):c.3505C>G (p.Pro1169Ala)

SNV
Germline

Chr2:47804976

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Endometrial carcinoma
Lynch syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA46717040

rs_904846776

9 SubmittersRCV000572853 RCV000543217 RCV000588973 RCV003470704 RCV004003694 RCV005421991

NM_000249.4(MLH1):c.1731+2T>C

SNV
Germline/somatic

Chr3:37042333

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA352062181

rs_267607856

3 SubmittersRCV000550081 RCV000758580 RCV002413436

NM_000249.4(MLH1):c.1732-2A>C

SNV
Germline

Chr3:37047517

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA352064122

rs_267607852

4 SubmittersRCV000542173 RCV002284405 RCV002404368 RCV002268141

NM_000249.4(MLH1):c.46G>C (p.Val16Leu)

SNV
Germline

Chr3:36993593

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA036168

rs_776643257

8 SubmittersRCV000554111 RCV000565039 RCV001821471 RCV003156248 RCV004003722 RCV004568713 RCV004787841

NM_000249.4(MLH1):c.1541A>G (p.Asn514Ser)

SNV
Germline

Chr3:37028915

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA029253

rs_772245091

8 SubmittersRCV000526935 RCV000568851 RCV000987178 RCV001564055 RCV004003712

NM_000249.4(MLH1):c.2016T>G (p.Cys672Trp)

SNV
Germline

Chr3:37048930

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA352067828

rs_1312172811

5 SubmittersRCV000553559 RCV000562503 RCV003470707 RCV004003718

NM_000249.4(MLH1):c.1410-2A>G

SNV
Germline

Chr3:37028782

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA028698

rs_746536721

10 SubmittersRCV000528881 RCV000987177 RCV001011401 RCV003228943 RCV004806403

NM_000249.4(MLH1):c.1577A>G (p.His526Arg)

SNV
Germline

Chr3:37040204

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA352059778

rs_1304802474

4 SubmittersRCV000558495 RCV000775867 RCV004003714

NM_000249.4(MLH1):c.670G>A (p.Val224Ile)

SNV
Germline

Chr3:37012092

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA352042844

rs_1553644251

7 SubmittersRCV000545737 RCV000583889 RCV001553068 RCV003330748 RCV003470709 RCV004003724

NM_014159.7(SETD2):c.1610T>G (p.Leu537Arg)

SNV
Germline

Chr3:47123026

Conflicting classifications of pathogenicity

Luscan-Lumish syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2363659

rs_753117350

2 SubmittersRCV000526963 RCV004965573

NM_014159.7(SETD2):c.664C>A (p.Leu222Ile)

SNV
Germline

Chr3:47123972

Conflicting classifications of pathogenicity

Luscan-Lumish syndrome
Inborn genetic diseases
Luscan-Lumish syndrome
Rabin-Pappas syndrome
Intellectual developmental disorder, autosomal dominant 70
SETD2-related disorder

Criteria Provided
Conflicting Classifications

CA2363732

rs_192262279

4 SubmittersRCV000526824 RCV004955658 RCV003224336 RCV004543235

NM_014159.7(SETD2):c.4487G>A (p.Arg1496Gln)

SNV
Germline

Chr3:47116722

Conflicting classifications of pathogenicity

Luscan-Lumish syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA352516528

rs_1553699111

2 SubmittersRCV000529316 RCV003233745

NM_014159.7(SETD2):c.3484C>T (p.His1162Tyr)

SNV
Germline

Chr3:47121152

Conflicting classifications of pathogenicity

Luscan-Lumish syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA2363373

rs_137871492

3 SubmittersRCV000548155 RCV001707740 RCV001821637

NM_014159.7(SETD2):c.2988A>G (p.Ser996=)

SNV
Germline

Chr3:47121648

Conflicting classifications of pathogenicity

Luscan-Lumish syndrome
not specified

Criteria Provided
Conflicting Classifications

CA2363448

rs_772906890

2 SubmittersRCV000531794 RCV001821636

NM_004168.4(SDHA):c.1188G>A (p.Thr396=)

SNV
Germline

Chr5:235267

Conflicting classifications of pathogenicity

Mitochondrial complex II deficiency, nuclear type 1
Pheochromocytoma/paraganglioma syndrome 5
Hereditary cancer-predisposing syndrome
Mitochondrial complex II deficiency, nuclear type 1
Hereditary pheochromocytoma-paraganglioma
Leigh syndrome
SDHA-related disorder
Pheochromocytoma/paraganglioma syndrome 5

Criteria Provided
Conflicting Classifications

CA3173134

rs_778667374

5 SubmittersRCV000541698 RCV001010227 RCV001156143 RCV001156144 RCV001157830 RCV004735622 RCV005422058

NM_000535.7(PMS2):c.1679G>A (p.Cys560Tyr)

SNV
Germline

Chr7:5987086

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA045087

rs_757989905

5 SubmittersRCV000555211 RCV000574607 RCV003231641 RCV004003760

NM_000535.7(PMS2):c.1151T>G (p.Leu384Ter)

SNV
Germline

Chr7:5987614

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366742692

rs_1554298087

3 SubmittersRCV000549263 RCV002350173 RCV003449543

NM_000535.7(PMS2):c.755G>A (p.Cys252Tyr)

SNV
Germline

Chr7:5997374

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Lynch syndrome 4
Lynch syndrome
Lynch syndrome 4
Mismatch repair cancer syndrome 4

Criteria Provided
Conflicting Classifications

CA051535

rs_775445157

9 SubmittersRCV000556803 RCV000564413 RCV000781740 RCV001568558 RCV003338645 RCV004003768 RCV005398776

NM_000535.7(PMS2):c.652G>A (p.Gly218Ser)

SNV
Germline

Chr7:5999161

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA366743913

rs_878854055

6 SubmittersRCV000547672 RCV001025376 RCV001290677 RCV001775843 RCV004003767

NM_000535.7(PMS2):c.2006+1G>A

SNV
Germline

Chr7:5986758

Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366738839

rs_1554297040

3 SubmittersRCV000552459 RCV002420350 RCV003449545

NM_000535.7(PMS2):c.1219A>G (p.Arg407Gly)

SNV
Germline

Chr7:5987546

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA042611

rs_776725795

5 SubmittersRCV000551665 RCV001010398 RCV000987835 RCV004003759

NM_000535.7(PMS2):c.220G>A (p.Gly74Arg)

SNV
Germline/somatic

Chr7:6004002

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA366744818

rs_1554304979

3 SubmittersRCV000545520 RCV000758691 RCV001014799

NM_000535.7(PMS2):c.2275+1G>T

SNV
Germline

Chr7:5978595

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA366736382

rs_1554294393

3 SubmittersRCV000528011 RCV003449547 RCV005000125

NM_000535.7(PMS2):c.989-5C>T

SNV
Germline

Chr7:5989960

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Mismatch repair cancer syndrome 1
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA572822673

rs_1401221727

4 SubmittersRCV000566513 RCV001400133 RCV005357552 RCV005426116

NM_000535.7(PMS2):c.327A>G (p.Glu109=)

SNV
Germline

Chr7:6003716

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA453647905

rs_1554304637

3 SubmittersRCV001424243 RCV004023726 RCV005426111

NM_000535.7(PMS2):c.2353G>T (p.Glu785Ter)

SNV
Germline

Chr7:5977680

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366735869

rs_1554293920

3 SubmittersRCV000543414 RCV002448606 RCV003449548

NM_000553.6(WRN):c.1378G>A (p.Asp460Asn)

SNV
Germline

Chr8:31085193

Conflicting classifications of pathogenicity

Werner syndrome
WRN-related disorder
Wiskott-Aldrich syndrome

Criteria Provided
Conflicting Classifications

CA4704341

rs_556958354

4 SubmittersRCV000551303 RCV003942745 RCV003316686

NM_024426.6(WT1):c.662-5C>T

SNV
Germline

Chr11:32428624

Conflicting classifications of pathogenicity

Frasier syndrome
Drash syndrome
Wilms tumor 1
11p partial monosomy syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Wilms tumor 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA065411

rs_780259089

5 SubmittersRCV000542648 RCV002256395 RCV004707347 RCV003316729 RCV005286139

NM_024426.6(WT1):c.1117G>A (p.Val373Met)

SNV
Germline

Chr11:32396404

Conflicting classifications of pathogenicity

Frasier syndrome
Drash syndrome
Wilms tumor 1
11p partial monosomy syndrome
Nephrotic syndrome, type 4
Wilms tumor 1
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA064243

rs_747377024

5 SubmittersRCV000546864 RCV003338666 RCV003999459 RCV002464260 RCV004965577

NM_024426.6(WT1):c.314C>G (p.Ala105Gly)

SNV
Germline

Chr11:32435047

Conflicting classifications of pathogenicity

Wilms tumor 1
11p partial monosomy syndrome
Drash syndrome
Frasier syndrome
8 conditions
Wilms tumor 1
WT1-related disorder
Inborn genetic diseases
Disorder of sexual differentiation
Condition: not provided
Drash syndrome

Criteria Provided
Conflicting Classifications

CA219511175

rs_948061247

10 SubmittersRCV000545211 RCV000763735 RCV000709150 RCV004740323 RCV004965582 RCV001568364 RCV003139859 RCV003459256

NM_024426.6(WT1):c.218A>T (p.Gln73Leu)

SNV
Germline

Chr11:32435143

Conflicting classifications of pathogenicity

Frasier syndrome
Drash syndrome
Wilms tumor 1
11p partial monosomy syndrome
Hereditary cancer-predisposing syndrome
Inborn genetic diseases
Condition: not provided
8 conditions
Nephrotic syndrome, type 4

Criteria Provided
Conflicting Classifications

CA219511297

rs_1036899554

8 SubmittersRCV000544002 RCV002256394 RCV002527933 RCV001591301 RCV002491099 RCV004787897

NM_024426.6(WT1):c.200C>G (p.Ser67Cys)

SNV
Germline

Chr11:32435161

Conflicting classifications of pathogenicity

Frasier syndrome
Drash syndrome
Wilms tumor 1
11p partial monosomy syndrome
Hereditary cancer-predisposing syndrome
Drash syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA379966175

rs_1327516147

4 SubmittersRCV000552982 RCV002258969 RCV003459255 RCV005286137

NM_024426.6(WT1):c.1408C>T (p.His470Tyr)

SNV
Germline

Chr11:32392011

Pathogenic

Frasier syndrome
Drash syndrome
Wilms tumor 1
11p partial monosomy syndrome

Criteria Provided
Single Submitter

CA379958818

rs_1554939072

1 SubmittersRCV000525079

NM_024426.6(WT1):c.121C>T (p.Pro41Ser)

SNV
Germline

Chr11:32435240

Conflicting classifications of pathogenicity

Frasier syndrome
Drash syndrome
Wilms tumor 1
11p partial monosomy syndrome
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA219511447

rs_926668379

3 SubmittersRCV000553840 RCV003318595 RCV005298535

NM_000540.3(RYR1):c.4847C>T (p.Thr1616Met)

SNV
Germline

Chr19:38483429

Conflicting classifications of pathogenicity

RYR1-related disorder
Condition: not provided
Inborn genetic diseases
Malignant hyperthermia, susceptibility to, 1
Central core myopathy
Congenital myopathy with fiber type disproportion
Congenital multicore myopathy with external ophthalmoplegia
King Denborough syndrome

Criteria Provided
Conflicting Classifications

CA066462

rs_776194441

5 SubmittersRCV000541033 RCV001546453 RCV004024433 RCV002476208

NM_000540.3(RYR1):c.7433C>A (p.Thr2478Asn)

SNV
Germline

Chr19:38500715

Conflicting classifications of pathogenicity

RYR1-related disorder
Condition: not provided
Malignant hyperthermia, susceptibility to, 1
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
King Denborough syndrome

Criteria Provided
Conflicting Classifications

CA069622

rs_141298868

6 SubmittersRCV000539694 RCV000721652 RCV005398873

NM_000540.3(RYR1):c.14833C>T (p.Arg4945Ter)

SNV
Germline

Chr19:38585967

Pathogenic/Likely pathogenic

RYR1-related disorder
Condition: not provided
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 1
Central core myopathy
Congenital myopathy with fiber type disproportion
Congenital multicore myopathy with external ophthalmoplegia
King Denborough syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA405692312

rs_1432807966

7 SubmittersRCV000541517 RCV000595499 RCV002250657 RCV003999490 RCV002497202

NM_000540.3(RYR1):c.14070G>A (p.Thr4690=)

SNV
Germline

Chr19:38573248

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 1
Central core myopathy
Congenital myopathy with fiber type disproportion
Congenital multicore myopathy with external ophthalmoplegia
King Denborough syndrome
Condition: not provided
RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA060795

rs_113058779

5 SubmittersRCV002497201 RCV000827374 RCV001078943 RCV003999489

NM_000540.3(RYR1):c.6274+1G>A

SNV
Germline

Chr19:38492637

Conflicting classifications of pathogenicity

RYR1-related disorder
Multiminicore myopathy
Condition: not provided
Malignant hyperthermia, susceptibility to, 1
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA405662693

rs_1226228092

8 SubmittersRCV000525713 RCV000853333 RCV000721603 RCV005018959 RCV004802184

NM_000540.3(RYR1):c.5287C>T (p.Pro1763Ser)

SNV
Germline

Chr19:38485942

Conflicting classifications of pathogenicity

RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1
Central core myopathy
Congenital myopathy with fiber type disproportion
Congenital multicore myopathy with external ophthalmoplegia
King Denborough syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA066855

rs_202225176

3 SubmittersRCV000526099 RCV002483516 RCV003133373

NM_000540.3(RYR1):c.6610C>T (p.His2204Tyr)

SNV
Germline

Chr19:38496276

Conflicting classifications of pathogenicity

RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1
Central core myopathy
Congenital myopathy with fiber type disproportion
Congenital multicore myopathy with external ophthalmoplegia
King Denborough syndrome

Criteria Provided
Conflicting Classifications

CA308104063

rs_745432757

2 SubmittersRCV000558724 RCV002506378

NM_000251.3(MSH2):c.19G>C (p.Glu7Gln)

SNV
Germline

Chr2:47403210

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346728450

rs_375561490

4 SubmittersRCV000561430 RCV002528990 RCV003151793 RCV003459386

NM_000251.3(MSH2):c.105C>A (p.Arg35=)

SNV
Germline

Chr2:47403296

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA426119404

rs_775554736

8 SubmittersRCV000575417 RCV000979908 RCV002510922 RCV005248239 RCV004000864

NM_000251.3(MSH2):c.323G>T (p.Gly108Val)

SNV
Germline

Chr2:47408512

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346729713

rs_1183145967

7 SubmittersRCV000572927 RCV001575414 RCV001858103 RCV003320690 RCV003459289 RCV004000847

NM_000251.3(MSH2):c.34G>C (p.Glu12Gln)

SNV
Germline

Chr2:47403225

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA46666533

rs_917968387

4 SubmittersRCV000574098 RCV000818613 RCV004001044

NM_000251.3(MSH2):c.124T>C (p.Phe42Leu)

SNV
Germline

Chr2:47403315

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346728855

rs_1553348804

2 SubmittersRCV000563450 RCV004787946

NM_000251.3(MSH2):c.161C>T (p.Ala54Val)

SNV
Germline

Chr2:47403352

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA029814

rs_768661914

6 SubmittersRCV000560975 RCV001867892 RCV004586803 RCV003447542 RCV005000286

NM_000251.3(MSH2):c.317G>C (p.Arg106Thr)

SNV
Germline

Chr2:47408506

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346729684

rs_41295286

4 SubmittersRCV000567001 RCV000793779 RCV004001043

NM_000251.3(MSH2):c.398A>G (p.Asp133Gly)

SNV
Germline

Chr2:47410125

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA46677666

rs_984353312

4 SubmittersRCV000563996 RCV001324767 RCV004001204

NM_000251.3(MSH2):c.443T>A (p.Val148Glu)

SNV
Germline

Chr2:47410170

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA346730475

rs_1553350714

3 SubmittersRCV000575907 RCV003451249 RCV001858299

NM_000251.3(MSH2):c.464T>C (p.Val155Ala)

SNV
Germline

Chr2:47410191

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Mismatch repair cancer syndrome 1
Lynch syndrome 1
Muir-Torré syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346730530

rs_876658188

7 SubmittersRCV000566316 RCV000764422 RCV000808811 RCV001551071 RCV003459360 RCV004001041

NM_000251.3(MSH2):c.460G>A (p.Ala154Thr)

SNV
Germline

Chr2:47410187

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA038871

rs_759712763

5 SubmittersRCV000568245 RCV000630061 RCV001584374 RCV004000906

NM_000251.3(MSH2):c.640A>G (p.Arg214Gly)

SNV
Germline

Chr2:47410367

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346731212

rs_1553350980

4 SubmittersRCV000563062 RCV001221191 RCV004000856

NM_000251.3(MSH2):c.1561T>A (p.Tyr521Asn)

SNV
Germline

Chr2:47466708

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346727807

rs_1553366562

5 SubmittersRCV000562344 RCV001865732 RCV003126824 RCV004000900

NM_000251.3(MSH2):c.27G>A (p.Leu9=)

SNV
Germline

Chr2:47403218

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA426119361

rs_1553348705

6 SubmittersRCV000573752 RCV000943982 RCV001552391 RCV004000861 RCV005248233

NM_000251.3(MSH2):c.624A>T (p.Gly208=)

SNV
Germline

Chr2:47410351

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA426119611

rs_786202651

5 SubmittersRCV000571775 RCV000805974 RCV002476237 RCV005248276

NM_000251.3(MSH2):c.1601G>T (p.Arg534Leu)

SNV
Germline

Chr2:47466748

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Ovarian cancer
Lynch syndrome
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA029754

rs_587778523

8 SubmittersRCV000567489 RCV000662462 RCV001039308 RCV003153734 RCV004000846 RCV005367407

NM_000251.3(MSH2):c.1625T>C (p.Val542Ala)

SNV
Germline

Chr2:47466772

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA346727945

rs_1553366630

4 SubmittersRCV000570016 RCV003459387 RCV003767224

NM_000251.3(MSH2):c.763A>C (p.Ser255Arg)

SNV
Germline

Chr2:47412531

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346732397

rs_761529282

5 SubmittersRCV000562138 RCV001222036 RCV004000851 RCV004569110

NM_000251.3(MSH2):c.1224T>G (p.Tyr408Ter)

SNV
Germline

Chr2:47429889

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346734084

rs_63750132

3 SubmittersRCV000569136 RCV000780440 RCV003451284

NM_000251.3(MSH2):c.75C>T (p.Gly25=)

SNV
Germline

Chr2:47403266

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA426119383

rs_1465620610

4 SubmittersRCV000573034 RCV001035945 RCV005248275

NM_000251.3(MSH2):c.1229G>T (p.Gly410Val)

SNV
Germline

Chr2:47429894

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA346734113

rs_1354753753

4 SubmittersRCV000567171 RCV000812381 RCV004001031 RCV005357689

NM_000251.3(MSH2):c.877A>G (p.Thr293Ala)

SNV
Germline

Chr2:47414353

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346732890

rs_1296650088

8 SubmittersRCV000565509 RCV000697645 RCV001653929 RCV003459357 RCV004001032

NM_000251.3(MSH2):c.1661G>A (p.Ser554Asn)

SNV
Germline

Chr2:47466808

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Lynch syndrome 1
Muir-Torré syndrome
Mismatch repair cancer syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA030195

rs_63750597

5 SubmittersRCV000570315 RCV000802215 RCV001310202 RCV002497211

NM_000251.3(MSH2):c.1703C>G (p.Thr568Arg)

SNV
Germline

Chr2:47471006

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346728123

rs_1285862035

4 SubmittersRCV000569949 RCV001359194 RCV004000858

NM_000251.3(MSH2):c.992A>G (p.Asn331Ser)

SNV
Germline

Chr2:47416345

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Mismatch repair cancer syndrome 2
Lynch syndrome 1
Muir-Torré syndrome
not specified

Criteria Provided
Conflicting Classifications

CA042047

rs_779673318

7 SubmittersRCV000572560 RCV000629913 RCV000708829 RCV002483525 RCV003320694

NM_000251.3(MSH2):c.1679A>T (p.Asn560Ile)

SNV
Germline

Chr2:47470982

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346728069

rs_1429353441

4 SubmittersRCV000567917 RCV000685519 RCV004001035

NM_000251.3(MSH2):c.1681G>T (p.Glu561Ter)

SNV
Germline

Chr2:47470984

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346728073

rs_63750328

2 SubmittersRCV000571761 RCV003451283

NM_000251.3(MSH2):c.136C>T (p.His46Tyr)

SNV
Germline

Chr2:47403327

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346728894

rs_1553348821

3 SubmittersRCV000573240 RCV001320849 RCV003459356

NM_000251.3(MSH2):c.1048C>T (p.Leu350Phe)

SNV
Germline

Chr2:47416401

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA026659

rs_771126636

5 SubmittersRCV000572143 RCV001538787 RCV001317782 RCV005600988

NM_000251.3(MSH2):c.183G>C (p.Gln61His)

SNV
Germline

Chr2:47403374

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA031678

rs_751082926

6 SubmittersRCV000571464 RCV000679297 RCV004001042 RCV001858303 RCV004735633

NM_000251.3(MSH2):c.211+3G>T

SNV
Germline

Chr2:47403405

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA033928

rs_778940305

5 SubmittersRCV000574792 RCV001867893 RCV004001033 RCV003465237

NM_000251.3(MSH2):c.1157A>G (p.Asp386Gly)

SNV
Germline

Chr2:47429822

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346733699

rs_1203515094

7 SubmittersRCV000569958 RCV000985791 RCV001858301 RCV003459358

NM_000251.3(MSH2):c.2039G>C (p.Arg680Pro)

SNV
Germline

Chr2:47476400

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA346729131

rs_1203462814

3 SubmittersRCV000568876 RCV003451248 RCV001858298

NM_000251.3(MSH2):c.2294C>T (p.Ala765Val)

SNV
Germline/somatic

Chr2:47478355

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA346729845

rs_1261458082

6 SubmittersRCV000561684 RCV000698314 RCV000758591 RCV001764664

NM_000251.3(MSH2):c.2239A>G (p.Ile747Val)

SNV
Germline

Chr2:47478300

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346729739

rs_1553369652

6 SubmittersRCV000561848 RCV001065224 RCV004569216 RCV003987610 RCV004806471

NM_000251.3(MSH2):c.2569A>G (p.Ile857Val)

SNV
Germline

Chr2:47480806

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA036657

rs_753459308

7 SubmittersRCV000574140 RCV000679307 RCV000694840 RCV004000859 RCV003470822

NM_000251.3(MSH2):c.2571T>G (p.Ile857Met)

SNV
Germline

Chr2:47480808

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346730953

rs_1400051085

5 SubmittersRCV000575878 RCV000780442 RCV000823779 RCV004000855

NM_000251.3(MSH2):c.1380G>C (p.Met460Ile)

SNV
Germline

Chr2:47445651

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA346724829

rs_757534022

4 SubmittersRCV000574584 RCV001223400 RCV004001117 RCV005000317

NM_000251.3(MSH2):c.2458+1G>T

SNV
Germline

Chr2:47478520

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346730324

rs_267608010

3 SubmittersRCV000564570 RCV000690329 RCV003451268

NM_000251.3(MSH2):c.2640T>C (p.Gly880=)

SNV
Germline

Chr2:47482784

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome
MSH2-related disorder
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA425971003

rs_1368565489

10 SubmittersRCV000569433 RCV001439849 RCV001692208 RCV004000860 RCV004530598 RCV005422103

NM_000251.3(MSH2):c.1067T>A (p.Ile356Lys)

SNV
Germline

Chr2:47416420

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346733264

rs_753075410

3 SubmittersRCV000563990 RCV002528140 RCV003451252

NM_000251.3(MSH2):c.1454T>C (p.Met485Thr)

SNV
Germline

Chr2:47463098

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Mismatch repair cancer syndrome 2
Muir-Torré syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346726967

rs_1553365763

4 SubmittersRCV000573636 RCV001043758 RCV002497215 RCV004001118

NM_000251.3(MSH2):c.1626A>G (p.Val542=)

SNV
Germline

Chr2:47466773

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Condition: not provided
Lynch syndrome 1
Lynch syndrome 1
Mismatch repair cancer syndrome 2
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA425965615

rs_1553366635

7 SubmittersRCV000574526 RCV000630249 RCV004000848 RCV005243300 RCV005248230 RCV005398877

NM_000251.3(MSH2):c.1200C>G (p.Asn400Lys)

SNV
Germline

Chr2:47429865

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Carcinoma of colon
Condition: not provided
MSH2-related disorder
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346733945

rs_1301023135

6 SubmittersRCV000574450 RCV000819870 RCV001355796 RCV001813789 RCV004543264 RCV005601007

NM_000251.3(MSH2):c.1276+4A>G

SNV
Germline

Chr2:47429945

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA658655679

rs_1481785592

3 SubmittersRCV000563985 RCV000817820 RCV005601011

NM_000251.3(MSH2):c.1282C>G (p.His428Asp)

SNV
Germline

Chr2:47445553

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346724494

rs_1421473851

3 SubmittersRCV000570734 RCV002528137 RCV004001039

NM_000251.3(MSH2):c.1770A>C (p.Glu590Asp)

SNV
Germline

Chr2:47475035

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA031214

rs_760619442

4 SubmittersRCV000562329 RCV000696814 RCV004000863

NM_000251.3(MSH2):c.1379T>C (p.Met460Thr)

SNV
Germline

Chr2:47445650

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346724826

rs_1553361303

8 SubmittersRCV000567509 RCV000759100 RCV000685208 RCV004001116 RCV003459384

NM_000179.3(MSH6):c.257C>T (p.Thr86Ile)

SNV
Germline

Chr2:47783490

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
not specified
Lynch syndrome 5
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA46688635

rs_768444916

8 SubmittersRCV000572033 RCV000629809 RCV001566523 RCV002265801 RCV003316740 RCV003465183

NM_000179.3(MSH6):c.88G>C (p.Glu30Gln)

SNV
Germline

Chr2:47783321

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346734813

rs_1445690889

4 SubmittersRCV000573405 RCV000703961 RCV004001045

NM_000179.3(MSH6):c.344T>C (p.Phe115Ser)

SNV
Germline

Chr2:47791010

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA070972

rs_781271765

5 SubmittersRCV000569512 RCV004001065 RCV001209697 RCV005427024

NM_000251.3(MSH2):c.1446A>C (p.Arg482Ser)

SNV
Germline

Chr2:47463090

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA346726920

rs_1553365751

3 SubmittersRCV000571070 RCV004569139 RCV005091328

NM_000251.3(MSH2):c.1518C>A (p.Asp506Glu)

SNV
Germline

Chr2:47466665

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346727719

rs_1553366508

3 SubmittersRCV000572647 RCV000686725 RCV004806472

NM_000179.3(MSH6):c.487G>A (p.Gly163Ser)

SNV
Germline

Chr2:47795923

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA073044

rs_776065389

4 SubmittersRCV000561865 RCV001062327 RCV005357692

NM_000251.3(MSH2):c.2132G>A (p.Arg711Gln)

SNV
Germline/somatic

Chr2:47476493

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Carcinoma of colon

Criteria Provided
Conflicting Classifications

CA034312

rs_138465383

6 SubmittersRCV000563683 RCV000758589 RCV000792263 RCV001545453 RCV001356554

NM_000251.3(MSH2):c.1619G>C (p.Ser540Thr)

SNV
Germline

Chr2:47466766

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Lynch syndrome 1
Mismatch repair cancer syndrome 2
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA346727934

rs_1553366622

4 SubmittersRCV000566684 RCV000795919 RCV003465283 RCV005398923

NM_000179.3(MSH6):c.988T>C (p.Ser330Pro)

SNV
Germline

Chr2:47798971

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA073692

rs_770408023

4 SubmittersRCV000566160 RCV001055886 RCV003332204 RCV004001058

NM_000251.3(MSH2):c.2528G>C (p.Cys843Ser)

SNV
Germline

Chr2:47480765

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346730781

rs_747700106

2 SubmittersRCV000565473 RCV004001038

NM_000251.3(MSH2):c.2694A>C (p.Glu898Asp)

SNV
Germline

Chr2:47482838

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
not specified
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA46712554

rs_890670494

8 SubmittersRCV000569579 RCV000629815 RCV003222042 RCV003987605 RCV004000905 RCV005422146

NM_000251.3(MSH2):c.2744T>C (p.Val915Ala)

SNV
Germline

Chr2:47482888

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346731919

rs_1399941088

5 SubmittersRCV000572179 RCV000697646 RCV004569109 RCV004000845

NM_000251.3(MSH2):c.2786G>T (p.Arg929Leu)

SNV
Germline

Chr2:47482930

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
MSH2-related disorder
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346732210

rs_587779967

5 SubmittersRCV000562070 RCV000629872 RCV004527663 RCV004569218

NM_000179.3(MSH6):c.944C>G (p.Ser315Cys)

SNV
Germline

Chr2:47798927

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA073607

rs_63750491

6 SubmittersRCV000566795 RCV000586030 RCV000696871 RCV004000879

NM_000179.3(MSH6):c.947G>A (p.Arg316Lys)

SNV
Germline

Chr2:47798930

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Lynch syndrome 5
Mismatch repair cancer syndrome 3
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA073615

rs_562487553

5 SubmittersRCV000562657 RCV000630127 RCV004001067 RCV005398899

NM_000179.3(MSH6):c.2070C>A (p.Tyr690Ter)

SNV
Germline

Chr2:47800053

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346750796

rs_559125434

2 SubmittersRCV000573166 RCV005248240

NM_000251.3(MSH2):c.2123T>C (p.Ile708Thr)

SNV
Germline

Chr2:47476484

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
MSH2-related disorder
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346729275

rs_63750108

5 SubmittersRCV000563438 RCV000629938 RCV004735632 RCV004000854

NM_000179.3(MSH6):c.1022C>G (p.Ser341Cys)

SNV
Germline

Chr2:47799005

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA067038

rs_766202031

4 SubmittersRCV000568421 RCV002528146 RCV004001068

NM_000179.3(MSH6):c.2159C>T (p.Thr720Ile)

SNV
Germline

Chr2:47800142

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA068511

rs_185531778

4 SubmittersRCV000570519 RCV000802427 RCV004000872

NM_000251.3(MSH2):c.2266A>G (p.Thr756Ala)

SNV
Germline

Chr2:47478327

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA035125

rs_750646335

4 SubmittersRCV000565456 RCV000759112 RCV000793685 RCV004000849

NM_000251.3(MSH2):c.2281G>C (p.Gly761Arg)

SNV
Germline

Chr2:47478342

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA346729821

rs_1060502038

4 SubmittersRCV000564777 RCV003451247 RCV001858296 RCV005240220

NM_000179.3(MSH6):c.1308C>A (p.Tyr436Ter)

SNV
Germline

Chr2:47799291

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346744333

rs_761037236

2 SubmittersRCV000573915 RCV003451255

NM_000179.3(MSH6):c.220G>T (p.Gly74Ter)

SNV
Germline

Chr2:47783453

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Mismatch repair cancer syndrome 3
Endometrial carcinoma
Lynch syndrome 5
Lynch syndrome 5
Endometrial carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA346735083

rs_1553408388

5 SubmittersRCV000569470 RCV000695473 RCV002483526 RCV003451234 RCV003459308

NM_000179.3(MSH6):c.1696G>T (p.Gly566Ter)

SNV
Germline

Chr2:47799679

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Endometrial carcinoma
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA346747546

rs_63749973

4 SubmittersRCV000574484 RCV003451270 RCV003459390 RCV005091431

NM_000179.3(MSH6):c.61A>G (p.Asn21Asp)

SNV
Germline

Chr2:47783294

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA346734569

rs_1223476490

6 SubmittersRCV000575294 RCV000689038 RCV000985851 RCV001292699

NM_000179.3(MSH6):c.475G>A (p.Ala159Thr)

SNV
Germline/somatic

Chr2:47795911

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA346738592

rs_1553411396

3 SubmittersRCV000565483 RCV000758664 RCV001858309

NM_000179.3(MSH6):c.2070C>T (p.Tyr690=)

SNV
Germline

Chr2:47800053

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA068440

rs_559125434

5 SubmittersRCV000565283 RCV000941244 RCV001445787 RCV005422170

NM_000179.3(MSH6):c.2075A>G (p.Lys692Arg)

SNV
Germline

Chr2:47800058

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Condition: not provided
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA46710290

rs_975991506

7 SubmittersRCV000561357 RCV000698328 RCV001824831 RCV002264957 RCV002289777

NM_000179.3(MSH6):c.2604G>A (p.Met868Ile)

SNV
Germline

Chr2:47800587

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
not specified
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA069280

rs_749508276

8 SubmittersRCV000570721 RCV000588628 RCV000692110 RCV001821659 RCV003459291 RCV004000882

NM_000179.3(MSH6):c.260+1G>C

SNV
Germline

Chr2:47783494

Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA346735200

rs_1553408467

3 SubmittersRCV000566260 RCV003451286 RCV003758844

NM_000179.3(MSH6):c.2161A>C (p.Arg721=)

SNV
Germline/somatic

Chr2:47800144

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
not specified
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA426121617

rs_537604099

7 SubmittersRCV000565256 RCV000630416 RCV000758624 RCV001001258 RCV005427016

NM_000179.3(MSH6):c.2183A>G (p.Lys728Arg)

SNV
Germline

Chr2:47800166

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Mismatch repair cancer syndrome 1
Lynch syndrome 5
Condition: not provided
Endometrial carcinoma
Lynch syndrome
MSH6-related disorder
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA068575

rs_35552856

12 SubmittersRCV000564228 RCV000688061 RCV000765685 RCV001591322 RCV003470823 RCV004000868 RCV004740330 RCV005422105

NM_000179.3(MSH6):c.353C>A (p.Thr118Lys)

SNV
Germline

Chr2:47791019

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA071156

rs_746060136

3 SubmittersRCV000571824 RCV001858112 RCV004806449

NM_000179.3(MSH6):c.533G>T (p.Arg178Leu)

SNV
Germline

Chr2:47795969

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346738710

rs_786204186

6 SubmittersRCV000570685 RCV001070096 RCV001844201 RCV004001062

NM_000179.3(MSH6):c.1074C>G (p.Asp358Glu)

SNV
Germline

Chr2:47799057

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA067120

rs_760311819

5 SubmittersRCV000566365 RCV001229506 RCV002469207 RCV004001123

NM_000179.3(MSH6):c.2885T>C (p.Ile962Thr)

SNV
Germline

Chr2:47800868

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome
Condition: not provided
Lynch syndrome
Mismatch repair cancer syndrome 3
Endometrial carcinoma
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA069760

rs_778287080

9 SubmittersRCV000561841 RCV000629885 RCV001355686 RCV001374579 RCV001764641 RCV004000884 RCV005034127

NM_000179.3(MSH6):c.2935C>T (p.Leu979=)

SNV
Germline

Chr2:47800918

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA426122056

rs_1356451622

6 SubmittersRCV000565992 RCV001435503 RCV003478214 RCV005426181

NM_000179.3(MSH6):c.2413A>G (p.Ile805Val)

SNV
Germline

Chr2:47800396

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
MSH6-related disorder
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA46711082

rs_928923556

8 SubmittersRCV000564287 RCV000985832 RCV000815080 RCV004569115 RCV004740331 RCV004000878

NM_000179.3(MSH6):c.1910T>C (p.Leu637Pro)

SNV
Germline

Chr2:47799893

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346750185

rs_1553413288

4 SubmittersRCV000564992 RCV003451218 RCV005091310 RCV005055443

NM_000179.3(MSH6):c.1030C>T (p.Gln344Ter)

SNV
Germline

Chr2:47799013

Pathogenic

Hereditary cancer-predisposing syndrome
Carcinoma of colon
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346741390

rs_730881815

4 SubmittersRCV000570360 RCV001354541 RCV001865721 RCV003451217

NM_000179.3(MSH6):c.3029C>G (p.Thr1010Ser)

SNV
Germline

Chr2:47801012

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
not specified
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA346756458

rs_768925694

7 SubmittersRCV000565431 RCV001221506 RCV001551755 RCV002465720 RCV004001060 RCV004569223

NM_000179.3(MSH6):c.3029C>T (p.Thr1010Ile)

SNV
Germline/somatic

Chr2:47801012

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA069975

rs_768925694

6 SubmittersRCV000570481 RCV000758675 RCV001327550 RCV004568234

NM_000179.3(MSH6):c.3162C>G (p.Ile1054Met)

SNV
Germline

Chr2:47801145

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA070144

rs_149605979

4 SubmittersRCV000569620 RCV000795073 RCV004806446

NM_000179.3(MSH6):c.3341T>A (p.Leu1114Gln)

SNV
Germline

Chr2:47803588

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Mismatch repair cancer syndrome 3
Endometrial carcinoma
Lynch syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA346758738

rs_1553331600

8 SubmittersRCV000566943 RCV000586719 RCV000813407 RCV002483532 RCV004001055 RCV005055126

NM_000179.3(MSH6):c.2931C>A (p.Tyr977Ter)

SNV
Germline

Chr2:47800914

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346756202

rs_63750111

4 SubmittersRCV000561109 RCV000630118 RCV003451254

NM_000179.3(MSH6):c.2015C>T (p.Thr672Ile)

SNV
Germline

Chr2:47799998

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Endometrial carcinoma
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346750694

rs_1460598011

7 SubmittersRCV000798635 RCV002266987 RCV000572638 RCV003470825 RCV005056196 RCV004000869

NM_000179.3(MSH6):c.3463C>T (p.Gln1155Ter)

SNV
Germline

Chr2:47804934

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA346760051

rs_1553332166

6 SubmittersRCV000568670 RCV000780477 RCV003451256 RCV001853718

NM_000179.3(MSH6):c.3642A>G (p.Glu1214=)

SNV
Germline

Chr2:47805703

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA071543

rs_765247025

6 SubmittersRCV000566298 RCV000630257 RCV001139789 RCV004000865

NM_000179.3(MSH6):c.3886A>C (p.Lys1296Gln)

SNV
Germline

Chr2:47806536

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA072260

rs_575714670

4 SubmittersRCV000572899 RCV000797361 RCV004821282

NM_000179.3(MSH6):c.3438+5C>A

SNV
Germline

Chr2:47803690

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA658655707

rs_777420424

3 SubmittersRCV000564182 RCV001322429 RCV004802254

NM_000179.3(MSH6):c.3928G>A (p.Glu1310Lys)

SNV
Germline

Chr2:47806578

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA346761475

rs_1194990135

4 SubmittersRCV000569784 RCV001070287 RCV003387887

NM_000179.3(MSH6):c.3809T>A (p.Met1270Lys)

SNV
Germline

Chr2:47806459

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA072169

rs_777617756

5 SubmittersRCV000570586 RCV000630109 RCV001174877 RCV003126822 RCV004802195

NM_000249.4(MLH1):c.210A>G (p.Lys70=)

SNV
Germline

Chr3:37000957

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Conflicting Classifications

CA433065547

rs_63751191

5 SubmittersRCV000564871 RCV000934452 RCV003155236 RCV004000836 RCV005248219

NM_000179.3(MSH6):c.2744C>G (p.Ala915Gly)

SNV
Germline

Chr2:47800727

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346755403

rs_766427609

7 SubmittersRCV000561147 RCV000590239 RCV000793228 RCV003459309 RCV004000907

NM_000179.3(MSH6):c.2886T>G (p.Ile962Met)

SNV
Germline

Chr2:47800869

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA069765

rs_747856982

3 SubmittersRCV000572892 RCV001221971 RCV005601008

NM_000179.3(MSH6):c.3173-4A>C

SNV
Germline

Chr2:47803416

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA658655682

rs_1437555847

4 SubmittersRCV000570771 RCV000926322 RCV005427025

NM_000179.3(MSH6):c.3647-3C>T

SNV
Germline

Chr2:47806201

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA658655730

rs_1553332959

4 SubmittersRCV000573671 RCV001049439 RCV001139790 RCV004000874

NM_000179.3(MSH6):c.3801+4T>C

SNV
Germline

Chr2:47806362

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome
MSH6-related disorder

Criteria Provided
Conflicting Classifications

CA072085

rs_758830540

8 SubmittersRCV000567341 RCV000630256 RCV000781586 RCV004001049 RCV004530606

NM_000249.4(MLH1):c.1256T>C (p.Ile419Thr)

SNV
Germline

Chr3:37025854

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA027930

rs_377484262

10 SubmittersRCV000562451 RCV000629991 RCV000679265 RCV003470818 RCV004000837

NM_000249.4(MLH1):c.1989+2T>C

SNV
Germline

Chr3:37048611

Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA352066025

rs_1553664119

4 SubmittersRCV000564282 RCV003144386 RCV003451274 RCV004001191

NM_000249.4(MLH1):c.1791G>A (p.Trp597Ter)

SNV
Germline/somatic

Chr3:37047578

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch-like syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Condition: not provided
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA352064694

rs_1416171624

7 SubmittersRCV000563162 RCV000698261 RCV001250000 RCV003451232 RCV003324769 RCV005357653

NM_000249.4(MLH1):c.1754T>C (p.Leu585Pro)

SNV
Germline

Chr3:37047541

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA352064360

rs_267607865

3 SubmittersRCV000573430 RCV001093657 RCV003758827

NM_004168.4(SDHA):c.-2A>T

SNV
Germline

Chr5:218354

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Leigh syndrome
Mitochondrial complex II deficiency, nuclear type 1
Hereditary pheochromocytoma-paraganglioma
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3172671

rs_763680697

5 SubmittersRCV000564955 RCV001153196 RCV001151934 RCV001153197 RCV003139877

NM_000535.7(PMS2):c.*3G>T

SNV
Germline

Chr7:5973396

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA049728

rs_776493195

3 SubmittersRCV000565226 RCV003478291 RCV005422214

NM_000535.7(PMS2):c.2475C>T (p.Ser825=)

SNV
Germline

Chr7:5973513

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Condition: not provided
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA048378

rs_776460258

5 SubmittersRCV000567886 RCV001052807 RCV001192584 RCV003478261 RCV005427030

NM_000535.7(PMS2):c.2445+1G>A

SNV
Germline

Chr7:5977587

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Carcinoma of colon
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA366735529

rs_876661113

5 SubmittersRCV000564513 RCV003451263 RCV001358239 RCV001386315

NM_000535.7(PMS2):c.2192T>A (p.Leu731Ter)

SNV
Germline

Chr7:5978679

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366736899

rs_1060503110

2 SubmittersRCV000565996 RCV003451231

NM_000535.7(PMS2):c.1712T>G (p.Leu571Arg)

SNV
Germline

Chr7:5987053

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA366740207

rs_1060503128

4 SubmittersRCV000561609 RCV003758820 RCV005000247 RCV005357649

NM_000535.7(PMS2):c.1760G>A (p.Ser587Asn)

SNV
Germline

Chr7:5987005

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA045499

rs_762100304

11 SubmittersRCV000569664 RCV000629864 RCV000662639 RCV001821663 RCV001356078

NM_000535.7(PMS2):c.1606C>T (p.Gln536Ter)

SNV
Germline

Chr7:5987159

Pathogenic

Hereditary cancer-predisposing syndrome
Mismatch repair cancer syndrome 4
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA366741495

rs_1554297488

7 SubmittersRCV000564667 RCV003315438 RCV003758846 RCV003451290 RCV004794416

NM_000535.7(PMS2):c.1646T>G (p.Val549Gly)

SNV
Germline

Chr7:5987119

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Mismatch repair cancer syndrome 4

Criteria Provided
Conflicting Classifications

CA044980

rs_779150753

4 SubmittersRCV000574646 RCV000695347 RCV004000908 RCV005357655

NM_000535.7(PMS2):c.1796A>G (p.Asp599Gly)

SNV
Germline

Chr7:5986969

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA366739812

rs_878854039

4 SubmittersRCV000563124 RCV000629896 RCV004001198

NM_000535.7(PMS2):c.1634C>G (p.Ser545Cys)

SNV
Germline

Chr7:5987131

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA153227998

rs_557906137

6 SubmittersRCV000562900 RCV000796414 RCV002509443 RCV004000893 RCV003459301

NM_000535.7(PMS2):c.1616C>T (p.Ala539Val)

SNV
Germline

Chr7:5987149

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA044643

rs_138222146

7 SubmittersRCV000569527 RCV000629904 RCV001755926 RCV004000894

NM_000535.7(PMS2):c.1471G>T (p.Glu491Ter)

SNV
Germline

Chr7:5987294

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366741867

rs_1064794577

5 SubmittersRCV000569354 RCV000822764 RCV000984324

NM_000535.7(PMS2):c.2534A>T (p.His845Leu)

SNV
Germline

Chr7:5973454

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 4
Mismatch repair cancer syndrome 4

Criteria Provided
Conflicting Classifications

CA366734849

rs_1554292741

4 SubmittersRCV000572695 RCV000629819 RCV003228958 RCV005034128

NM_000535.7(PMS2):c.1345C>T (p.Gln449Ter)

SNV
Germline

Chr7:5987420

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366742291

rs_876661256

3 SubmittersRCV000566101 RCV001858330 RCV003459367

NM_000535.7(PMS2):c.1146T>C (p.Gly382=)

SNV
Germline

Chr7:5987619

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA453643828

rs_1554298091

3 SubmittersRCV000575092 RCV001478531 RCV005427033

NM_000535.7(PMS2):c.2413C>T (p.Gln805Ter)

SNV
Germline

Chr7:5977620

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366735640

rs_1554293810

3 SubmittersRCV000565606 RCV000798085 RCV003451288

NM_000535.7(PMS2):c.830C>T (p.Thr277Met)

SNV
Germline

Chr7:5995607

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA051942

rs_1805322

7 SubmittersRCV000573847 RCV000587439 RCV001049150 RCV001553488 RCV004001071

NM_000535.7(PMS2):c.803+5G>A

SNV
Germline

Chr7:5997321

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA153239468

rs_939641251

5 SubmittersRCV000564600 RCV000630211 RCV004017680

NM_000535.7(PMS2):c.904-2A>C

SNV
Germline

Chr7:5992059

Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366743230

rs_587781339

2 SubmittersRCV000561160 RCV003451229

NM_000535.7(PMS2):c.220G>C (p.Gly74Arg)

SNV
Germline

Chr7:6004002

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 4
Lynch syndrome
Hereditary nonpolyposis colon cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA366744819

rs_1554304979

7 SubmittersRCV000564836 RCV000630233 RCV001545463 RCV003465282 RCV004001202 RCV005240224

NM_000535.7(PMS2):c.832C>A (p.His278Asn)

SNV
Germline

Chr7:5995605

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Ovarian cancer
Mismatch repair cancer syndrome 4
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA366743530

rs_1554300796

4 SubmittersRCV000563786 RCV003767186 RCV003153742 RCV005044854

NM_000535.7(PMS2):c.1384A>G (p.Ile462Val)

SNV
Germline

Chr7:5987381

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA153228409

rs_200116037

4 SubmittersRCV000571937 RCV000686148 RCV005357709

NM_000535.7(PMS2):c.1224T>C (p.Thr408=)

SNV
Germline

Chr7:5987541

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA453748461

rs_1554298007

6 SubmittersRCV000568984 RCV000589305 RCV000978947 RCV005422180

NM_000535.7(PMS2):c.164-1G>A

SNV
Germline

Chr7:6004059

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer
Lynch syndrome 4
Condition: not provided
Mismatch repair cancer syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA044881

rs_763308607

8 SubmittersRCV000564457 RCV001378577 RCV001280603 RCV003451261 RCV004719882 RCV005367422

NM_000535.7(PMS2):c.546C>T (p.Ala182=)

SNV
Germline

Chr7:5999267

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA453647278

rs_1554302537

3 SubmittersRCV000562137 RCV003593982 RCV005422128

NM_000535.7(PMS2):c.535A>T (p.Lys179Ter)

SNV
Germline

Chr7:6002455

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366744151

rs_1554303861

3 SubmittersRCV000574316 RCV004017678 RCV003451235

NM_000535.7(PMS2):c.383C>A (p.Ser128Ter)

SNV
Germline

Chr7:6002607

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366744457

rs_116373169

2 SubmittersRCV000575923 RCV003451236

NM_002495.4(NDUFS4):c.178-2A>G

SNV
Germline

Chr5:53646231

Pathogenic

Leigh syndrome

Criteria Provided
Single Submitter

CA359719528

rs_1554059248

1 SubmittersRCV000578463

NM_002496.4(NDUFS8):c.441G>C (p.Met147Ile)

SNV
Germline

Chr11:68036321

Likely pathogenic

Leigh syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA381569172

rs_1267554976

2 SubmittersRCV000578254 RCV001815416

NM_003172.4(SURF1):c.752-1G>C

SNV
Germline

Chr9:133352143

Pathogenic

Leigh syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA375693588

rs_1391748504

4 SubmittersRCV000578241 RCV004592782

NM_000251.3(MSH2):c.1045C>T (p.Pro349Ser)

SNV
Germline

Chr2:47416398

Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346733218

rs_267607939

4 SubmittersRCV000579738 RCV003237947 RCV003758849 RCV003886417

NM_000251.3(MSH2):c.2435C>G (p.Thr812Ser)

SNV
Germline

Chr2:47478496

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346730271

rs_1553369826

5 SubmittersRCV000580076 RCV001236705 RCV003465291 RCV004806505

NM_000251.3(MSH2):c.20A>C (p.Glu7Ala)

SNV
Germline

Chr2:47403211

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA46666467

rs_530071578

6 SubmittersRCV000580313 RCV000698385 RCV003478306 RCV004001258 RCV004530629

NM_000251.3(MSH2):c.1217G>T (p.Arg406Leu)

SNV
Germline

Chr2:47429882

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Muir-Torré syndrome
Mismatch repair cancer syndrome 2
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346734041

rs_146567853

5 SubmittersRCV000580175 RCV000696098 RCV005398926 RCV004001255

NM_000251.3(MSH2):c.187G>T (p.Val63Leu)

SNV
Germline

Chr2:47403378

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346729018

rs_1553348889

4 SubmittersRCV000580643 RCV001038381 RCV004568266

NM_000251.3(MSH2):c.286C>T (p.Arg96Cys)

SNV
Germline

Chr2:47408475

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346729600

rs_1443234544

8 SubmittersRCV000629862 RCV000580951 RCV001193290 RCV001090210 RCV004001260

NM_000251.3(MSH2):c.2029A>G (p.Thr677Ala)

SNV
Germline

Chr2:47476390

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Breast carcinoma
Lynch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA346729112

rs_1553369013

6 SubmittersRCV000579590 RCV001240812 RCV001574074 RCV004001257 RCV004719890

NM_000179.3(MSH6):c.1043C>T (p.Ser348Phe)

SNV
Germline

Chr2:47799026

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Mismatch repair cancer syndrome 3
Endometrial carcinoma
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA067068

rs_758432113

4 SubmittersRCV000580344 RCV000705715 RCV005398928

NM_000251.3(MSH2):c.1114T>G (p.Leu372Val)

SNV
Germline

Chr2:47429779

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA027000

rs_770201760

5 SubmittersRCV000579817 RCV000821374 RCV003324772 RCV004806504

NM_000179.3(MSH6):c.1045C>G (p.Gln349Glu)

SNV
Germline

Chr2:47799028

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346741496

rs_863224473

4 SubmittersRCV000580956 RCV000800340 RCV004001261

NM_000179.3(MSH6):c.1825C>A (p.Leu609Ile)

SNV
Germline

Chr2:47799808

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA346749476

rs_1426910114

4 SubmittersRCV000580797 RCV001246377 RCV005601026

NM_000179.3(MSH6):c.3884C>T (p.Pro1295Leu)

SNV
Germline

Chr2:47806534

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA072254

rs_758181932

5 SubmittersRCV000580177 RCV000808331 RCV003459431 RCV004001271

NM_000251.3(MSH2):c.2649T>G (p.Ile883Met)

SNV
Germline

Chr2:47482793

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome
Muir-Torré syndrome
Lynch syndrome 1
Mismatch repair cancer syndrome 2

Criteria Provided
Conflicting Classifications

CA037199

rs_768983827

7 SubmittersRCV000580301 RCV001193286 RCV000629841 RCV002245022 RCV004001259 RCV005398927

NM_000179.3(MSH6):c.2717C>G (p.Thr906Ser)

SNV
Germline

Chr2:47800700

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Lynch syndrome
not specified

Criteria Provided
Conflicting Classifications

CA346755351

rs_1436232875

6 SubmittersRCV000580164 RCV000695435 RCV003459430 RCV004001269 RCV005431776

NM_000179.3(MSH6):c.435A>C (p.Lys145Asn)

SNV
Germline

Chr2:47791101

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
not specified
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA346737166

rs_1321666742

9 SubmittersRCV000581061 RCV000797264 RCV001284187 RCV001779017 RCV004001272 RCV003459433

NM_000179.3(MSH6):c.1688C>G (p.Thr563Ser)

SNV
Germline

Chr2:47799671

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA346747515

rs_1386014501

5 SubmittersRCV000579771 RCV001296048 RCV004807003 RCV003465292

NM_000535.7(PMS2):c.250+4A>G

SNV
Germline

Chr7:6003968

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA453648372

rs_1554304934

4 SubmittersRCV000579449 RCV001302500 RCV003471926

NM_000535.7(PMS2):c.1551C>T (p.Ser517=)

SNV
Germline

Chr7:5987214

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA044294

rs_587782479

6 SubmittersRCV000581144 RCV000629863 RCV003235300 RCV004001275 RCV005422745

NM_000251.3(MSH2):c.-5T>G

SNV
Germline

Chr2:47403187

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA658683193

rs_1553348652

4 SubmittersRCV000583705 RCV004002325 RCV003767309

NM_000251.3(MSH2):c.49G>A (p.Val17Ile)

SNV
Germline

Chr2:47403240

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA346728561

rs_63750966

4 SubmittersRCV000584099 RCV003459444 RCV002530801

NM_000251.3(MSH2):c.753G>A (p.Glu251=)

SNV
Germline

Chr2:47412521

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA425967882

rs_1553351682

5 SubmittersRCV000582022 RCV002061846 RCV003133385 RCV005248402

NM_000251.3(MSH2):c.-8G>A

SNV
Germline

Chr2:47403184

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Breast and/or ovarian cancer
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA658683192

rs_1064795641

5 SubmittersRCV000581194 RCV001860085 RCV001358264 RCV003150287 RCV004002326

NM_000251.3(MSH2):c.793G>T (p.Val265Phe)

SNV
Germline

Chr2:47414269

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
not specified

Criteria Provided
Conflicting Classifications

CA346732736

rs_1553352377

5 SubmittersRCV000582876 RCV001853922 RCV003459445 RCV003493677

NM_000251.3(MSH2):c.1155A>G (p.Pro385=)

SNV
Germline

Chr2:47429820

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346733687

rs_1553356617

5 SubmittersRCV000582021 RCV001499318 RCV005000350 RCV005248375

NM_000251.3(MSH2):c.1369A>G (p.Thr457Ala)

SNV
Germline

Chr2:47445640

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
not specified

Criteria Provided
Conflicting Classifications

CA346724787

rs_1445965781

5 SubmittersRCV000583346 RCV001860087 RCV004002329 RCV004782455

NM_000251.3(MSH2):c.942+4A>T

SNV
Germline

Chr2:47414422

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
MSH2-related disorder
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA532705013

rs_749778569

5 SubmittersRCV000582182 RCV001323272 RCV001731797 RCV004735635 RCV004002338

NM_000251.3(MSH2):c.962C>G (p.Thr321Ser)

SNV
Germline

Chr2:47416315

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346733064

rs_1233448699

6 SubmittersRCV000581531 RCV000813559 RCV003736829 RCV004002340

NM_000251.3(MSH2):c.1074G>C (p.Glu358Asp)

SNV
Germline

Chr2:47416427

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346733277

rs_1477257356

5 SubmittersRCV000582679 RCV001321827 RCV002282243 RCV003459442

NM_000251.3(MSH2):c.1076+5G>A

SNV
Germline

Chr2:47416434

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA532705087

rs_1400610583

4 SubmittersRCV000582545 RCV000695809 RCV005601031

NM_000251.3(MSH2):c.1303G>C (p.Val435Leu)

SNV
Germline

Chr2:47445574

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346724556

rs_876658240

5 SubmittersRCV000583308 RCV001359134 RCV003465307 RCV004002328

NM_000251.3(MSH2):c.1225C>T (p.Gln409Ter)

SNV
Germline

Chr2:47429890

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346734091

rs_151244108

5 SubmittersRCV000583444 RCV001591350 RCV001853921 RCV003451301

NM_000251.3(MSH2):c.2542G>A (p.Ala848Thr)

SNV
Germline

Chr2:47480779

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA036452

rs_746972142

4 SubmittersRCV000581658 RCV003758862 RCV004807011

NM_000251.3(MSH2):c.1650A>C (p.Lys550Asn)

SNV
Germline

Chr2:47466797

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346728000

rs_1553366663

3 SubmittersRCV000582130 RCV004002331

NM_000251.3(MSH2):c.1803G>C (p.Gln601His)

SNV
Germline

Chr2:47475068

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA346728326

rs_1553368556

4 SubmittersRCV000584510 RCV000735960 RCV000796750

NM_000251.3(MSH2):c.2458+10A>G

SNV
Germline

Chr2:47478529

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA658683245

rs_1269379998

7 SubmittersRCV000583562 RCV000604544 RCV000898368 RCV005357752 RCV005248395

NM_000251.3(MSH2):c.2266A>T (p.Thr756Ser)

SNV
Germline

Chr2:47478327

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA46704862

rs_750646335

3 SubmittersRCV000583000 RCV005091506 RCV005248393

NM_000179.3(MSH6):c.-4C>T

SNV
Germline

Chr2:47783230

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA532350631

rs_1114167784

4 SubmittersRCV000581601 RCV001354966 RCV004002342

NM_000251.3(MSH2):c.2635-11A>G

SNV
Germline

Chr2:47482768

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
not specified
Familial cancer of breast
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA037106

rs_201291595

7 SubmittersRCV000583741 RCV001683596 RCV002061842 RCV003320710 RCV005357753 RCV005422747

NM_000179.3(MSH6):c.877C>T (p.Pro293Ser)

SNV
Germline

Chr2:47798860

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Endometrial carcinoma
Mismatch repair cancer syndrome 3
Lynch syndrome 5
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA073534

rs_756935130

6 SubmittersRCV000583660 RCV000806695 RCV002466543 RCV005027689 RCV004807016

NM_000179.3(MSH6):c.628-13C>G

SNV
Germline

Chr2:47798598

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA073220

rs_538280815

7 SubmittersRCV000584305 RCV001357031 RCV001142202 RCV002061863 RCV001712596 RCV004002356

NM_000179.3(MSH6):c.1876C>T (p.Gln626Ter)

SNV
Germline

Chr2:47799859

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346749937

rs_1553413253

5 SubmittersRCV000584384 RCV000657708 RCV001048652 RCV004555869

NM_000179.3(MSH6):c.1961T>C (p.Met654Thr)

SNV
Germline

Chr2:47799944

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
MSH6-related disorder

Criteria Provided
Conflicting Classifications

CA068326

rs_761433489

5 SubmittersRCV000581390 RCV001860090 RCV004002345 RCV004530630

NM_000179.3(MSH6):c.3879T>C (p.Ala1293=)

SNV
Germline

Chr2:47806529

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Malignant tumor of breast
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA072251

rs_752369374

7 SubmittersRCV000584513 RCV000759869 RCV001357637 RCV002061859 RCV003493678 RCV005427100

NM_000179.3(MSH6):c.3096C>T (p.Cys1032=)

SNV
Germline

Chr2:47801079

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Lynch syndrome 5
not specified

Criteria Provided
Conflicting Classifications

CA426121849

rs_1553414502

6 SubmittersRCV000582207 RCV005091509 RCV005357754 RCV005427098 RCV005431778

NM_000179.3(MSH6):c.3321T>G (p.Asp1107Glu)

SNV
Germline

Chr2:47803568

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346758673

rs_1258021186

4 SubmittersRCV000582580 RCV000808125 RCV004002352

NM_000179.3(MSH6):c.3166G>C (p.Val1056Leu)

SNV
Germline

Chr2:47801149

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA46713075

rs_952911807

4 SubmittersRCV000582540 RCV001209413 RCV004807015

NM_000179.3(MSH6):c.3604A>T (p.Met1202Leu)

SNV
Germline

Chr2:47805665

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome
Endometrial carcinoma
Mismatch repair cancer syndrome 3
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA346760558

rs_369778514

7 SubmittersRCV000584693 RCV000587024 RCV000629874 RCV000610333 RCV004002353 RCV005034153

NM_000535.7(PMS2):c.1571C>T (p.Pro524Leu)

SNV
Germline

Chr7:5987194

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA366741565

rs_63751257

3 SubmittersRCV000581535 RCV004002364

NM_000535.7(PMS2):c.706-11T>C

SNV
Germline

Chr7:5997434

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA572548208

rs_1185117521

4 SubmittersRCV000583138 RCV003316770

NM_000535.7(PMS2):c.903+1G>T

SNV
Germline

Chr7:5995533

Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366743394

rs_1554300689

4 SubmittersRCV000584297 RCV001378093 RCV003451312

NM_000535.7(PMS2):c.354-12A>G

SNV
Germline

Chr7:6002648

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Mismatch repair cancer syndrome 1
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA658683459

rs_1554304135

5 SubmittersRCV000582563 RCV002061907 RCV005357763 RCV005427108

NM_000535.7(PMS2):c.538-12T>G

SNV
Germline

Chr7:5999287

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA658683457

rs_1554302551

5 SubmittersRCV000582218 RCV003594000 RCV004807019 RCV005601034

NM_000535.7(PMS2):c.75G>A (p.Gln25=)

SNV
Germline

Chr7:6005980

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Condition: not provided
Lynch syndrome
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA453650319

rs_1554306525

7 SubmittersRCV000582802 RCV001433232 RCV003155240 RCV003992336 RCV004002370 RCV005427110

NM_000535.7(PMS2):c.73C>T (p.Gln25Ter)

SNV
Germline

Chr7:6005982

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366745114

rs_1554306528

4 SubmittersRCV000583497 RCV004787998

NM_000535.7(PMS2):c.1120C>T (p.Gln374Ter)

SNV
Germline

Chr7:5989824

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colon cancer
Condition: not provided
Lynch syndrome 4
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA366742765

rs_1437858319

6 SubmittersRCV000581876 RCV001193817 RCV002509456 RCV003451309 RCV005091515

NM_000535.7(PMS2):c.706-3C>T

SNV
Germline

Chr7:5997426

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Lynch syndrome
not specified

Criteria Provided
Conflicting Classifications

CA572548192

rs_1229860023

6 SubmittersRCV000584358 RCV000630290 RCV000987845 RCV004002368 RCV004596296

NM_000535.7(PMS2):c.354-7C>T

SNV
Germline

Chr7:6002643

Conflicting classifications of pathogenicity

Lynch syndrome 4
Hereditary cancer-predisposing syndrome
not specified
Hereditary nonpolyposis colorectal neoplasms
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA049526

rs_758471869

6 SubmittersRCV000662819 RCV000583777 RCV000590705 RCV000868952 RCV001798905

NM_000535.7(PMS2):c.206C>A (p.Ser69Ter)

SNV
Germline

Chr7:6004016

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 4
Hereditary nonpolyposis colon cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA366744852

rs_730881914

4 SubmittersRCV000584111 RCV000657694 RCV003451311 RCV005407760

NM_000179.3(MSH6):c.260+2T>A

SNV
Germline

Chr2:47783495

Likely pathogenic

Condition: not provided
Lynch syndrome

Criteria Provided
Single Submitter

CA346735205

rs_1553408469

2 SubmittersRCV000583128 RCV004017688

NM_000179.3(MSH6):c.1135A>T (p.Arg379Ter)

SNV
Germline

Chr2:47799118

Pathogenic

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346742114

rs_1432436629

4 SubmittersRCV000583626 RCV001867896 RCV002325116 RCV003451319

NM_000179.3(MSH6):c.2095G>T (p.Glu699Ter)

SNV
Unknown

Chr2:47800078

Pathogenic

Condition: not provided
Lynch syndrome 5

Criteria Provided
Single Submitter

CA346750880

rs_1553413470

2 SubmittersRCV000581995 RCV003451320

NM_174889.5(NDUFAF2):c.451G>A (p.Gly151Ser)

SNV
Germline

Chr5:61152896

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Mitochondrial complex I deficiency, nuclear type 1
Leigh syndrome

Criteria Provided
Conflicting Classifications

CA3278200

rs_9885480

7 SubmittersRCV000585479 RCV000602804 RCV001152463 RCV001153733

NM_000251.3(MSH2):c.1361T>G (p.Ile454Arg)

SNV
Germline

Chr2:47445632

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346724761

rs_1060502025

4 SubmittersRCV000589611 RCV001220102 RCV002384283 RCV003451329

NM_000179.3(MSH6):c.3646+1G>T

SNV
Germline/somatic

Chr2:47805708

Pathogenic/Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Neoplasm

Criteria Provided
Multiple Submitters
No Conflicts

CA346760640

rs_1553332772

5 SubmittersRCV000587991 RCV001860121 RCV003278922 RCV003451326 RCV004669047

NM_000251.3(MSH2):c.547C>A (p.Gln183Lys)

SNV
Germline

Chr2:47410274

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346730870

rs_63750037

5 SubmittersRCV000590002 RCV001024159 RCV001853977 RCV004002418

NM_000251.3(MSH2):c.2466T>A (p.Cys822Ter)

SNV
Germline

Chr2:47480703

Pathogenic/Likely pathogenic

Lynch syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA46707579

rs_63749846

2 SubmittersRCV000587946 RCV003451330

NM_000249.4(MLH1):c.199G>C (p.Gly67Arg)

SNV
Germline

Chr3:36996701

Pathogenic/Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA352035488

rs_63750206

5 SubmittersRCV000589590 RCV000700612 RCV003388588 RCV005601037

NM_002495.4(NDUFS4):c.99-1G>A

SNV
Germline

Chr5:53603451

Pathogenic

Mitochondrial complex I deficiency, nuclear type 1
Leigh syndrome
Condition: not provided
Mitochondrial disease

Criteria Provided
Multiple Submitters
No Conflicts

CA3264179

rs_376281345

7 SubmittersRCV000007294 RCV000588112 RCV003558447 RCV005357776

NM_174889.5(NDUFAF2):c.221G>A (p.Trp74Ter)

SNV
Germline

Chr5:61098995

Pathogenic/Likely pathogenic

Leigh syndrome
Condition: not provided
Mitochondrial complex I deficiency, nuclear type 10

Criteria Provided
Multiple Submitters
No Conflicts

CA3278149

rs_772294726

5 SubmittersRCV000587093 RCV001557146 RCV002497240

NM_000535.7(PMS2):c.2175A>G (p.Ala725=)

SNV
Germline

Chr7:5978696

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA046990

rs_769116749

4 SubmittersRCV000587820 RCV000803808 RCV001014679 RCV005427133

NM_000535.7(PMS2):c.1909C>T (p.Gln637Ter)

SNV
Germline

Chr7:5986856

Pathogenic/Likely pathogenic

Lynch syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366739308

rs_1554297125

6 SubmittersRCV000590029 RCV000759915 RCV001219508 RCV002413666 RCV003451332

NM_078470.6(COX15):c.452C>G (p.Ser151Ter)

SNV
Germline

Chr10:99727098

Pathogenic

Leigh syndrome
Condition: not provided
See cases
COX15-related disorder
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2

Criteria Provided
Multiple Submitters
No Conflicts

CA5642259

rs_149718203

9 SubmittersRCV000586150 RCV000599531 RCV002252173 RCV004757251 RCV000033254

NM_000377.3(WAS):c.290G>A (p.Trp97Ter)

SNV
Germline

ChrX:48685563

Likely pathogenic

Wiskott-Aldrich syndrome

Criteria Provided
Single Submitter

CA412866888

rs_1557006474

1 SubmittersRCV000586328

NM_000377.3(WAS):c.553C>T (p.Gln185Ter)

SNV
Germline

ChrX:48686128

Likely pathogenic

Wiskott-Aldrich syndrome

Criteria Provided
Single Submitter

CA412869529

rs_1557006672

1 SubmittersRCV000589073

NM_007103.4(NDUFV1):c.1157G>A (p.Arg386His)

SNV
Germline

Chr11:67611973

Pathogenic/Likely pathogenic

Condition: not provided
Mitochondrial complex I deficiency, nuclear type 4
Leigh syndrome
NDUFV1-related disorder
Mitochondrial complex I deficiency, nuclear type

Criteria Provided
Multiple Submitters
No Conflicts

CA6143414

rs_536758576

13 SubmittersRCV000592779 RCV001783094 RCV001731801 RCV004530649 RCV004760638

NM_001378615.1(CC2D2A):c.1946C>T (p.Thr649Met)

SNV
Germline

Chr4:15538080

Conflicting classifications of pathogenicity

Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome 9
COACH syndrome 1
Meckel syndrome, type 6
Meckel syndrome, type 6
Joubert syndrome 9
CC2D2A-related disorder

Criteria Provided
Conflicting Classifications

CA2863798

rs_201884883

6 SubmittersRCV000594861 RCV000694442 RCV000765756 RCV001148070 RCV001148071 RCV004722961

NM_000535.7(PMS2):c.164-5T>C

SNV
Germline

Chr7:6004063

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA658796892

rs_1554305071

4 SubmittersRCV000593791 RCV000707580 RCV002395519 RCV005422818

NM_001378615.1(CC2D2A):c.4334G>A (p.Arg1445Gln)

SNV
Germline

Chr4:15596104

Conflicting classifications of pathogenicity

Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
CC2D2A-related disorder
Inborn genetic diseases
Joubert syndrome 9
COACH syndrome 2
Meckel syndrome, type 6
Retinitis pigmentosa 93

Criteria Provided
Conflicting Classifications

CA2864377

rs_113065116

6 SubmittersRCV000592379 RCV001326524 RCV004732953 RCV004024748 RCV005034164

NM_022552.5(DNMT3A):c.2676A>G (p.Ser892=)

SNV
Germline

Chr2:25234342

Conflicting classifications of pathogenicity

Condition: not provided
Tatton-Brown-Rahman overgrowth syndrome
Inborn genetic diseases
DNMT3A-related disorder

Criteria Provided
Conflicting Classifications

CA1555477

rs_763189481

5 SubmittersRCV000596005 RCV001088447 RCV004975698 RCV003927918

NM_000540.3(RYR1):c.443C>T (p.Thr148Ile)

SNV
Germline

Chr19:38444167

Conflicting classifications of pathogenicity

Inborn genetic diseases
Condition: not provided
RYR1-related disorder
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA066047

rs_151325948

9 SubmittersRCV000623845 RCV000721535 RCV000818782 RCV002497264 RCV003514380

NM_015272.5(RPGRIP1L):c.502G>A (p.Ala168Thr)

SNV
Germline

Chr16:53692093

Conflicting classifications of pathogenicity

Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome
COACH syndrome 3
Meckel syndrome, type 5
Joubert syndrome 7
RPGRIP1L-related disorder

Criteria Provided
Conflicting Classifications

CA8058113

rs_780770984

6 SubmittersRCV000598220 RCV000817532 RCV001271341 RCV002476313 RCV004530699

NM_015272.5(RPGRIP1L):c.341A>G (p.Gln114Arg)

SNV
Germline

Chr16:53692254

Conflicting classifications of pathogenicity

Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
Meckel syndrome, type 5
Joubert syndrome
Inborn genetic diseases
COACH syndrome 3
Meckel syndrome, type 5
Joubert syndrome 7

Criteria Provided
Conflicting Classifications

CA8058130

rs_201413825

8 SubmittersRCV000596655 RCV001248488 RCV001330328 RCV001829675 RCV003278935 RCV002476328

NM_001378615.1(CC2D2A):c.4238G>A (p.Cys1413Tyr)

SNV
Germline

Chr4:15589603

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome 9
Meckel syndrome, type 6
Joubert syndrome 9
Retinitis pigmentosa 93
Meckel syndrome, type 6
COACH syndrome 2

Criteria Provided
Conflicting Classifications

CA2864358

rs_146843542

7 SubmittersRCV000593757 RCV001755983 RCV001474086 RCV001146865 RCV001146866 RCV005034177

NM_001378615.1(CC2D2A):c.3643A>G (p.Ser1215Gly)

SNV
Germline

Chr4:15574198

Conflicting classifications of pathogenicity

Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
Inborn genetic diseases
Joubert syndrome 9
COACH syndrome 2
Meckel syndrome, type 6
Retinitis pigmentosa 93

Criteria Provided
Conflicting Classifications

CA2864219

rs_765661601

4 SubmittersRCV000594362 RCV001312485 RCV004024856 RCV005034179

NM_018344.6(SLC29A3):c.561C>T (p.Tyr187=)

SNV
Germline

Chr10:71351739

Conflicting classifications of pathogenicity

Condition: not provided
H syndrome

Criteria Provided
Conflicting Classifications

CA5542959

rs_773321774

2 SubmittersRCV000592488 RCV001493979

NM_017547.4(FOXRED1):c.1102C>T (p.Gln368Ter)

SNV
Germline

Chr11:126277071

Pathogenic/Likely pathogenic

Condition: not provided
Inborn genetic diseases
Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 19

Criteria Provided
Multiple Submitters
No Conflicts

CA383231093

rs_1555066709

5 SubmittersRCV000598917 RCV002532695 RCV004586826 RCV005044897

NM_000179.3(MSH6):c.1993G>T (p.Glu665Ter)

SNV
Germline

Chr2:47799976

Pathogenic/Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colon cancer
Lynch syndrome 5
MSH6-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA346750651

rs_1333555322

5 SubmittersRCV000602898 RCV002420653 RCV003117420 RCV003451452 RCV004527682

NM_000179.3(MSH6):c.2419G>T (p.Glu807Ter)

SNV
Germline

Chr2:47800402

Pathogenic/Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA346754007

rs_587779923

5 SubmittersRCV000601053 RCV000688489 RCV003316777 RCV004944019

NM_000535.7(PMS2):c.2239A>T (p.Arg747Ter)

SNV
Germline

Chr7:5978632

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA366736632

rs_1554294448

4 SubmittersRCV000607235 RCV002431760 RCV003451360 RCV003758874

NM_000251.3(MSH2):c.943-6T>C

SNV
Germline

Chr2:47416290

Conflicting classifications of pathogenicity

not specified
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA041754

rs_768644134

5 SubmittersRCV000603358 RCV000630239 RCV000774560 RCV003492119 RCV005248414

NM_000251.3(MSH2):c.2634+4T>C

SNV
Germline

Chr2:47480875

Conflicting classifications of pathogenicity

not specified
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA658795789

rs_1553370486

6 SubmittersRCV000604429 RCV001039758 RCV003584672 RCV005357800 RCV005601044

NM_024426.6(WT1):c.1568G>A (p.Ter523=)

SNV
Germline

Chr11:32389059

Conflicting classifications of pathogenicity

11p partial monosomy syndrome
Frasier syndrome
Wilms tumor 1
Drash syndrome
Wilms tumor 1
Meacham syndrome
Nephrotic syndrome, type 4
Condition: not provided
Kidney disorder
Inborn genetic diseases
WT1-related disorder

Criteria Provided
Conflicting Classifications

CA064691

rs_148856160

8 SubmittersRCV000863727 RCV001104138 RCV001104443 RCV001104139 RCV001698053 RCV002294359 RCV004965603 RCV004547744

NM_004551.3(NDUFS3):c.747G>A (p.Pro249=)

SNV
Germline

Chr11:47584433

Conflicting classifications of pathogenicity

not specified
Mitochondrial complex I deficiency, nuclear type 1
Leigh syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5978089

rs_3740654

3 SubmittersRCV000614898 RCV001103853 RCV001103854 RCV002531615

NM_004589.4(SCO1):c.411G>A (p.Gly137=)

SNV
Germline

Chr17:10692915

Conflicting classifications of pathogenicity

Mitochondrial complex IV deficiency, nuclear type 1
Leigh syndrome
Condition: not provided
SCO1-related disorder

Criteria Provided
Conflicting Classifications

CA8393600

rs_371690301

4 SubmittersRCV001124450 RCV001124449 RCV001697873 RCV004544751

NM_003172.4(SURF1):c.772C>T (p.Pro258Ser)

SNV
Germline

Chr9:133352122

Pathogenic

Leigh syndrome

No Assertion Criteria Provided

CA200832091

rs_1053850536

1 SubmittersRCV000754102

NM_003172.4(SURF1):c.532A>T (p.Asn178Tyr)

SNV
Germline

Chr9:133352750

Conflicting classifications of pathogenicity

Leigh syndrome

No Assertion Criteria Provided

CA375694077

rs_587753385

2 SubmittersRCV000754103

NM_000179.3(MSH6):c.1100A>G (p.His367Arg)

SNV
Germline

Chr2:47799083

Pathogenic

Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Reviewed By Expert Panel

CA346741910

rs_1553412495

4 SubmittersRCV000622394 RCV003594011 RCV003278952 RCV003451475

NM_000249.4(MLH1):c.827T>G (p.Ile276Arg)

SNV
Germline

Chr3:37017542

Pathogenic

Lynch syndrome 1
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA352046042

rs_1253275403

3 SubmittersRCV000623903 RCV003447545 RCV003594010

NM_006218.4(PIK3CA):c.1049A>G (p.Asp350Gly)

SNV
Germline/somatic

Chr3:179203779

Conflicting classifications of pathogenicity

Inborn genetic diseases
Condition: not provided
PIK3CA related overgrowth syndrome

Criteria Provided
Conflicting Classifications

CA355281594

rs_1553821144

3 SubmittersRCV000622911 RCV003318606 RCV005251158

NM_014159.7(SETD2):c.3371C>T (p.Ala1124Val)

SNV
Germline

Chr3:47121265

Conflicting classifications of pathogenicity

Inborn genetic diseases
Luscan-Lumish syndrome

Criteria Provided
Conflicting Classifications

CA2363394

rs_538871720

2 SubmittersRCV000623529 RCV000652612

NM_014159.7(SETD2):c.19C>T (p.Gln7Ter)

SNV
Germline

Chr3:47163906

Conflicting classifications of pathogenicity

Inborn genetic diseases
Luscan-Lumish syndrome
not specified
Condition: not provided
SETD2-related disorder

Criteria Provided
Conflicting Classifications

CA2363807

rs_541943893

9 SubmittersRCV000623624 RCV000652616 RCV001193986 RCV003139952 RCV004533296

NM_001378615.1(CC2D2A):c.4483G>T (p.Glu1495Ter)

SNV
Germline

Chr4:15597452

Pathogenic

COACH syndrome 1

Criteria Provided
Single Submitter

CA356432293

rs_1553845300

1 SubmittersRCV000626104

NM_152416.4(NDUFAF6):c.719G>T (p.Gly240Val)

SNV
Germline

Chr8:95048461

Likely pathogenic

Leigh syndrome

Criteria Provided
Single Submitter

CA371746474

rs_762620949

1 SubmittersRCV000626222

NM_000540.3(RYR1):c.9847C>T (p.Arg3283Ter)

SNV
Germline

Chr19:38517520

Pathogenic/Likely pathogenic

Condition: not provided
Congenital multicore myopathy with external ophthalmoplegia
RYR1-related disorder
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion

Criteria Provided
Multiple Submitters
No Conflicts

CA074223

rs_752199191

8 SubmittersRCV000627253 RCV001809708 RCV001855333 RCV002499018

NM_006941.4(SOX10):c.232C>T (p.Gln78Ter)

SNV
Germline

Chr22:37983553

Pathogenic

Condition: not provided
Waardenburg syndrome type 2E
PCWH syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA411501391

rs_1555939491

3 SubmittersRCV000627359 RCV001290166 RCV005253009

NM_001375834.1(WIPF1):c.1380C>T (p.Ser460=)

SNV
Germline

Chr2:174567146

Conflicting classifications of pathogenicity

Wiskott-Aldrich syndrome 2

Criteria Provided
Conflicting Classifications

CA1973913

rs_753915750

2 SubmittersRCV000650086

NM_001165963.4(SCN1A):c.3886T>A (p.Leu1296Met)

SNV
Germline

Chr2:166009835

Conflicting classifications of pathogenicity

Developmental and epileptic encephalopathy
SUDDEN INFANT DEATH SYNDROME

Criteria Provided
Conflicting Classifications

CA349053526

rs_375896308

2 SubmittersRCV000636357 RCV001788307

NM_000251.3(MSH2):c.700A>G (p.Thr234Ala)

SNV
Germline

Chr2:47412468

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346731985

rs_1212577306

6 SubmittersRCV000629704 RCV002233918 RCV004002771 RCV000777452 RCV004568355

NM_000251.3(MSH2):c.689C>T (p.Ala230Val)

SNV
Germline

Chr2:47412457

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346731902

rs_1553351592

3 SubmittersRCV000629696 RCV004944024 RCV004807051

NM_000251.3(MSH2):c.536C>T (p.Pro179Leu)

SNV
Germline

Chr2:47410263

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA46678119

rs_902336078

3 SubmittersRCV000629937 RCV001023985 RCV003459492

NM_000251.3(MSH2):c.1139T>G (p.Leu380Ter)

SNV
Germline

Chr2:47429804

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346733647

rs_730881755

4 SubmittersRCV000630006 RCV002457988 RCV003451497

NM_000251.3(MSH2):c.1981A>G (p.Lys661Glu)

SNV
Germline

Chr2:47475246

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346728873

rs_1553368707

4 SubmittersRCV000629738 RCV001179138 RCV004002773

NM_000251.3(MSH2):c.2621A>G (p.Tyr874Cys)

SNV
Germline

Chr2:47480858

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Lynch syndrome 1
Muir-Torré syndrome
Mismatch repair cancer syndrome 2
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA036876

rs_775390721

8 SubmittersRCV000630014 RCV000776212 RCV000781567 RCV003478344 RCV005392197 RCV004533306

NM_000251.3(MSH2):c.2129C>G (p.Ala710Gly)

SNV
Germline

Chr2:47476490

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA034290

rs_373717132

5 SubmittersRCV000629899 RCV002420671 RCV004002780 RCV005422871

NM_000251.3(MSH2):c.2522T>C (p.Ile841Thr)

SNV
Germline

Chr2:47480759

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346730757

rs_1275767178

4 SubmittersRCV000630060 RCV001015812 RCV003459496

NM_000179.3(MSH6):c.461C>G (p.Ser154Ter)

SNV
Germline

Chr2:47795897

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA346738562

rs_1553411391

5 SubmittersRCV000629824 RCV001805232 RCV003451488 RCV005231198

NM_000179.3(MSH6):c.589G>C (p.Asp197His)

SNV
Germline

Chr2:47796025

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Mismatch repair cancer syndrome 3
Endometrial carcinoma
Lynch syndrome 5
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA46703403

rs_148517241

6 SubmittersRCV000630129 RCV001024658 RCV002483771 RCV004568365 RCV004002791

NM_000251.3(MSH2):c.501T>C (p.Asp167=)

SNV
Germline

Chr2:47410228

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA426119531

rs_757733033

4 SubmittersRCV001405031 RCV003478346 RCV005248468 RCV004025379

NM_000179.3(MSH6):c.1707C>T (p.Phe569=)

SNV
Germline

Chr2:47799690

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA426120975

rs_1553413086

6 SubmittersRCV000630326 RCV001188151 RCV005427179 RCV004807058

NM_000179.3(MSH6):c.1130A>C (p.Lys377Thr)

SNV
Germline

Chr2:47799113

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA067191

rs_550221570

4 SubmittersRCV000629781 RCV002325197 RCV004002774 RCV002510939

NM_000179.3(MSH6):c.2180C>G (p.Thr727Ser)

SNV
Germline

Chr2:47800163

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA068566

rs_767861096

5 SubmittersRCV004002769 RCV000629678 RCV000774601 RCV004767454

NM_000251.3(MSH2):c.1810G>A (p.Ala604Thr)

SNV
Germline

Chr2:47475075

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA346728336

rs_1553368568

6 SubmittersRCV000629723 RCV004002772 RCV001013211 RCV001731820 RCV005357831

NM_000251.3(MSH2):c.2132G>T (p.Arg711Leu)

SNV
Germline

Chr2:47476493

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346729289

rs_138465383

4 SubmittersRCV000629968 RCV000777516 RCV004568362

NM_000179.3(MSH6):c.2783C>A (p.Thr928Asn)

SNV
Germline

Chr2:47800766

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA069625

rs_781482454

5 SubmittersRCV000630100 RCV001016596 RCV001756039 RCV002465740 RCV005601054

NM_000179.3(MSH6):c.3173-2A>C

SNV
Germline

Chr2:47803418

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Endometrial carcinoma
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346757808

rs_1553331242

4 SubmittersRCV000630128 RCV002325200 RCV003459499 RCV003451501

NM_000179.3(MSH6):c.3256C>T (p.Pro1086Ser)

SNV
Germline

Chr2:47803503

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346758131

rs_756108143

6 SubmittersRCV000630015 RCV000771661 RCV003332215 RCV004002789

NM_000179.3(MSH6):c.457G>C (p.Gly153Arg)

SNV
Germline

Chr2:47791123

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA346737213

rs_1060502885

4 SubmittersRCV000629857 RCV002334052 RCV003317307 RCV004788045

NM_000179.3(MSH6):c.4066T>G (p.Leu1356Val)

SNV
Germline

Chr2:47806843

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346761745

rs_1226221560

4 SubmittersRCV000630235 RCV000777010 RCV004807056

NM_000179.3(MSH6):c.3584G>C (p.Ser1195Thr)

SNV
Germline

Chr2:47805645

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA071428

rs_758428552

3 SubmittersRCV000630131 RCV002457990 RCV004002792

NM_000179.3(MSH6):c.3018C>A (p.Tyr1006Ter)

SNV
Germline

Chr2:47801001

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 5
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA346756433

rs_1553414395

5 SubmittersRCV000629667 RCV001541581 RCV000986728 RCV002438637

NM_000179.3(MSH6):c.3160A>G (p.Ile1054Val)

SNV
Germline

Chr2:47801143

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA070133

rs_267608075

4 SubmittersRCV000630191 RCV001018885 RCV004002795

NM_000179.3(MSH6):c.3715A>G (p.Ile1239Val)

SNV
Germline

Chr2:47806272

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Mismatch repair cancer syndrome 3
Endometrial carcinoma
Lynch syndrome 5
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA346761006

rs_1469961964

5 SubmittersRCV000629876 RCV002343196 RCV005027741 RCV004002778 RCV004568359

NM_000249.4(MLH1):c.227T>A (p.Val76Glu)

SNV
Germline

Chr3:37000974

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA352035965

rs_1434599441

4 SubmittersRCV000629926 RCV002448929 RCV003451493 RCV004002782

NM_000249.4(MLH1):c.1420C>A (p.Arg474=)

SNV
Germline

Chr3:37028794

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Conflicting Classifications

CA433079515

rs_147939838

6 SubmittersRCV000630321 RCV001011502 RCV002264965 RCV004002801 RCV005248482

NM_000249.4(MLH1):c.1051G>A (p.Gly351Arg)

SNV
Germline

Chr3:37025649

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA352052043

rs_1437454428

7 SubmittersRCV000629849 RCV001017137 RCV000985774 RCV002492942 RCV003459491 RCV004002777

NM_014159.7(SETD2):c.2224T>G (p.Ser742Ala)

SNV
Germline

Chr3:47122412

Conflicting classifications of pathogenicity

Luscan-Lumish syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2363567

rs_774644234

2 SubmittersRCV000652611 RCV004965638

NM_014159.7(SETD2):c.2822A>G (p.Lys941Arg)

SNV
Germline

Chr3:47121814

Conflicting classifications of pathogenicity

Luscan-Lumish syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA352525019

rs_1398213134

2 SubmittersRCV000652617 RCV004568462

NM_014159.7(SETD2):c.1885A>G (p.Lys629Glu)

SNV
Germline

Chr3:47122751

Conflicting classifications of pathogenicity

Condition: not provided
Luscan-Lumish syndrome
not specified
SETD2-related disorder

Criteria Provided
Conflicting Classifications

CA2363615

rs_145650484

6 SubmittersRCV001719158 RCV000652623 RCV001816638 RCV004533417

NM_014159.7(SETD2):c.148G>A (p.Ala50Thr)

SNV
Germline

Chr3:47124488

Conflicting classifications of pathogenicity

Luscan-Lumish syndrome
SETD2-related disorder

Criteria Provided
Conflicting Classifications

CA73812492

rs_191985301

3 SubmittersRCV000652628 RCV004533419

NM_004168.4(SDHA):c.558C>T (p.Ala186=)

SNV
Germline

Chr5:225984

Conflicting classifications of pathogenicity

Mitochondrial complex II deficiency, nuclear type 1
Pheochromocytoma/paraganglioma syndrome 5
Hereditary pheochromocytoma-paraganglioma
Mitochondrial complex II deficiency, nuclear type 1
Leigh syndrome
Hereditary cancer-predisposing syndrome
Pheochromocytoma/paraganglioma syndrome 5

Criteria Provided
Conflicting Classifications

CA3172877

rs_199618059

4 SubmittersRCV000649483 RCV001155907 RCV001155908 RCV001155909 RCV002343344 RCV005422919

NM_000535.7(PMS2):c.930C>T (p.Tyr310=)

SNV
Germline

Chr7:5992031

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA453645313

rs_1405625567

4 SubmittersRCV000630341 RCV002377348 RCV004002802 RCV005422881

NM_000535.7(PMS2):c.989-3T>C

SNV
Germline

Chr7:5989958

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Lynch syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA572822671

rs_1156325177

7 SubmittersRCV000629730 RCV005427172 RCV000708987 RCV000777103

NM_000535.7(PMS2):c.353G>A (p.Ser118Asn)

SNV
Germline

Chr7:6003690

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Carcinoma of colon
Lynch syndrome 4
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA366744522

rs_1394474494

7 SubmittersRCV000629959 RCV001692240 RCV001358610 RCV003451495 RCV002457987

NM_000535.7(PMS2):c.903+1G>C

SNV
Germline

Chr7:5995533

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA366743395

rs_1554300689

5 SubmittersRCV000629948 RCV002272310 RCV002377347

NM_000535.7(PMS2):c.1036C>T (p.Gln346Ter)

SNV
Germline

Chr7:5989908

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366742939

rs_1554298786

5 SubmittersRCV000629989 RCV001591406 RCV001805233 RCV003451496

NM_024426.6(WT1):c.925A>G (p.Met309Val)

SNV
Germline

Chr11:32417617

Conflicting classifications of pathogenicity

Frasier syndrome
Drash syndrome
Wilms tumor 1
11p partial monosomy syndrome
Hereditary cancer-predisposing syndrome
Wilms tumor 1
Condition: not provided
Inborn genetic diseases
6 conditions

Criteria Provided
Conflicting Classifications

CA065878

rs_754336808

6 SubmittersRCV000653777 RCV002257917 RCV004004096 RCV004820072 RCV004965639 RCV005046840

NM_024426.6(WT1):c.478C>T (p.Gln160Ter)

SNV
Germline

Chr11:32434883

Pathogenic

Frasier syndrome
Drash syndrome
Wilms tumor 1
11p partial monosomy syndrome

Criteria Provided
Single Submitter

CA379964944

rs_1554946500

1 SubmittersRCV000653788

NM_024426.6(WT1):c.146G>T (p.Gly49Val)

SNV
Germline

Chr11:32435215

Conflicting classifications of pathogenicity

Frasier syndrome
Drash syndrome
Wilms tumor 1
11p partial monosomy syndrome
Inborn genetic diseases
Drash syndrome

Criteria Provided
Conflicting Classifications

CA379966285

rs_1475923286

3 SubmittersRCV000653794 RCV005286168 RCV003459551

NM_024426.6(WT1):c.1158G>A (p.Ser386=)

SNV
Germline

Chr11:32396363

Conflicting classifications of pathogenicity

Frasier syndrome
Drash syndrome
Wilms tumor 1
11p partial monosomy syndrome
8 conditions
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA064328

rs_377446096

3 SubmittersRCV000653797 RCV002493052 RCV004686599

NM_024426.6(WT1):c.806C>G (p.Pro269Arg)

SNV
Germline

Chr11:32428037

Conflicting classifications of pathogenicity

Frasier syndrome
Drash syndrome
Wilms tumor 1
11p partial monosomy syndrome
Inborn genetic diseases
Wilms tumor 1

Criteria Provided
Conflicting Classifications

CA065646

rs_756078681

3 SubmittersRCV000653789 RCV004965640 RCV004004099

NM_024426.6(WT1):c.203G>A (p.Gly68Glu)

SNV
Germline

Chr11:32435158

Conflicting classifications of pathogenicity

Frasier syndrome
Drash syndrome
Wilms tumor 1
11p partial monosomy syndrome
8 conditions
Drash syndrome
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA379966170

rs_1170323988

5 SubmittersRCV000653781 RCV002493050 RCV004568465 RCV003442006 RCV005298564

NM_024426.6(WT1):c.124G>A (p.Gly42Ser)

SNV
Germline

Chr11:32435237

Conflicting classifications of pathogenicity

Frasier syndrome
Drash syndrome
Wilms tumor 1
11p partial monosomy syndrome
Meacham syndrome
Wilms tumor 1
Drash syndrome
Nephrotic syndrome, type 4
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA064232

rs_762288656

6 SubmittersRCV000653792 RCV001108129 RCV000709154 RCV000988523 RCV001108130 RCV003442007 RCV005298566

NM_015272.5(RPGRIP1L):c.1709A>G (p.Lys570Arg)

SNV
Germline

Chr16:53652978

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome
Condition: not provided
Joubert syndrome 7
Meckel syndrome, type 5
COACH syndrome 3

Criteria Provided
Conflicting Classifications

CA8057714

rs_111459222

4 SubmittersRCV000636947 RCV001271281 RCV001549364 RCV002483809

NM_000540.3(RYR1):c.7261G>T (p.Ala2421Ser)

SNV
Germline

Chr19:38499954

Conflicting classifications of pathogenicity

RYR1-related disorder
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1
Condition: not provided
Congenital myopathy with fiber type disproportion
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia

Criteria Provided
Conflicting Classifications

CA069413

rs_193922808

6 SubmittersRCV000655593 RCV001125554 RCV001125555 RCV002275123 RCV002507140

NM_000540.3(RYR1):c.3523G>A (p.Glu1175Lys)

SNV
Germline

Chr19:38469107

Conflicting classifications of pathogenicity

RYR1-related disorder
Condition: not provided
Malignant hyperthermia, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
Centronuclear myopathy

Criteria Provided
Conflicting Classifications

CA064958

rs_769744438

7 SubmittersRCV000655600 RCV000721499 RCV004004155 RCV005019092 RCV004586854

NM_000540.3(RYR1):c.1250T>C (p.Leu417Pro)

SNV
Germline

Chr19:38452824

Conflicting classifications of pathogenicity

RYR1-related disorder
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1
Central core myopathy
Condition: not provided
See cases
Malignant hyperthermia, susceptibility to, 1
Myopathy, RYR1-associated

Criteria Provided
Conflicting Classifications

CA059053

rs_764262446

11 SubmittersRCV000655525 RCV002250674 RCV005019091 RCV001729679 RCV000658830 RCV003334390 RCV004004138 RCV004525996

NM_000540.3(RYR1):c.9859C>T (p.Arg3287Cys)

SNV
Germline

Chr19:38517532

Conflicting classifications of pathogenicity

RYR1-related disorder
Condition: not provided
not specified
Congenital myopathy with fiber type disproportion
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia

Criteria Provided
Conflicting Classifications

CA074235

rs_201276068

6 SubmittersRCV000655563 RCV000721760 RCV002307581 RCV002499131

NM_000540.3(RYR1):c.12869C>T (p.Ala4290Val)

SNV
Germline

Chr19:38565203

Conflicting classifications of pathogenicity

Condition: not provided
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1
RYR1-related disorder

Criteria Provided
Conflicting Classifications

CA059496

rs_755065800

4 SubmittersRCV000721295 RCV005392253 RCV001083692

NM_000377.3(WAS):c.271C>T (p.Gln91Ter)

SNV
Germline

ChrX:48684421

Pathogenic

Thrombocytopenia 1
Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia

Criteria Provided
Single Submitter

CA412866685

rs_1557006354

1 SubmittersRCV000633306

NM_000377.3(WAS):c.91G>A (p.Glu31Lys)

SNV
Germline

ChrX:48683944

Pathogenic/Likely pathogenic

Thrombocytopenia 1
Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia
Condition: not provided
Wiskott-Aldrich syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA412865672

rs_1557006239

3 SubmittersRCV000633307 RCV000657918 RCV003991033

NM_000251.3(MSH2):c.495T>G (p.Tyr165Ter)

SNV
Germline

Chr2:47410222

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA46677963

rs_63749949

3 SubmittersRCV000657693 RCV002334219 RCV003451605

NM_000251.3(MSH2):c.1566C>A (p.Tyr522Ter)

SNV
Germline

Chr2:47466713

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346727817

rs_63750224

4 SubmittersRCV000657690 RCV001384313 RCV003451604

NM_000179.3(MSH6):c.1691C>G (p.Ser564Ter)

SNV
Germline

Chr2:47799674

Pathogenic

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346747528

rs_864622153

5 SubmittersRCV000657688 RCV000705277 RCV002397335 RCV003451603

NM_000179.3(MSH6):c.1921G>T (p.Glu641Ter)

SNV
Germline

Chr2:47799904

Pathogenic

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346750292

rs_1553413305

4 SubmittersRCV000657743 RCV001386205 RCV001013705 RCV003451608

NM_000249.4(MLH1):c.1546C>T (p.Gln516Ter)

SNV
Germline

Chr3:37028920

Pathogenic

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA352057049

rs_1553653195

7 SubmittersRCV000657574 RCV000791767 RCV001012049 RCV002284202 RCV003451600

NM_000535.7(PMS2):c.1699C>T (p.Gln567Ter)

SNV
Germline

Chr7:5987066

Pathogenic

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366741147

rs_1554297342

4 SubmittersRCV000657706 RCV003758897 RCV003451606

NM_000535.7(PMS2):c.986C>G (p.Ser329Ter)

SNV
Germline

Chr7:5991975

Pathogenic

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366743059

rs_1461669945

5 SubmittersRCV000657672 RCV001381062 RCV002386127 RCV003316781

NM_000363.5(TNNI3):c.556C>T (p.Arg186Trp)

SNV
Germline

Chr19:55151911

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Hypertrophic cardiomyopathy
SUDDEN INFANT DEATH SYNDROME
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA051839

rs_760978512

6 SubmittersRCV000658349 RCV001177934 RCV001855374 RCV001788314 RCV004026030

NM_022552.5(DNMT3A):c.2141C>G (p.Ser714Cys)

SNV
Germline

Chr2:25240672

Conflicting classifications of pathogenicity

Condition: not provided
Tatton-Brown-Rahman overgrowth syndrome

Criteria Provided
Conflicting Classifications

CA1555737

rs_367909007

3 SubmittersRCV000658860 RCV001251185

NM_000377.3(WAS):c.1455C>T (p.Asp485=)

SNV
Germline

ChrX:48691108

Conflicting classifications of pathogenicity

Condition: not provided
Thrombocytopenia 1
Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia

Criteria Provided
Conflicting Classifications

CA10404102

rs_35359501

2 SubmittersRCV000659159 RCV002060788

NM_024426.6(WT1):c.1405G>T (p.Asp469Tyr)

SNV
Germline

Chr11:32392014

Pathogenic/Likely pathogenic

Drash syndrome
Nephrotic syndrome, type 4
WT1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA379958830

rs_28941778

2 SubmittersRCV000659253 RCV004547831

NM_000179.3(MSH6):c.524C>T (p.Ala175Val)

SNV
Germline

Chr2:47795960

Conflicting classifications of pathogenicity

Lynch syndrome 5
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346738692

rs_1060502929

3 SubmittersRCV000659886 RCV003362884 RCV004004199

NM_006941.4(SOX10):c.334A>G (p.Met112Val)

SNV
Germline

Chr22:37983451

Conflicting classifications of pathogenicity

Waardenburg syndrome type 4C
Waardenburg syndrome type 4C
PCWH syndrome
Waardenburg syndrome type 2E

Criteria Provided
Conflicting Classifications

CA411500576

rs_1555939439

3 SubmittersRCV000660278 RCV000765648

NM_003172.4(SURF1):c.588+1G>A

SNV
Germline

Chr9:133352693

Pathogenic

Leigh syndrome
Charcot-Marie-Tooth disease type 4K
Leigh syndrome

Criteria Provided
Single Submitter

CA375693956

rs_1219762677

2 SubmittersRCV000662348 RCV002530598

NM_000377.3(WAS):c.360+1G>C

SNV
Germline

ChrX:48685634

Pathogenic

Wiskott-Aldrich syndrome

No Assertion Criteria Provided

CA412867292

rs_1057520700

1 SubmittersRCV000714956

NM_000251.3(MSH2):c.354T>G (p.Tyr118Ter)

SNV
Germline

Chr2:47408543

Pathogenic

Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA346730114

rs_1553350250

4 SubmittersRCV000662664 RCV001020582 RCV003758900

NM_000251.3(MSH2):c.982G>C (p.Ala328Pro)

SNV
Germline

Chr2:47416335

Conflicting classifications of pathogenicity

Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA041952

rs_753237286

8 SubmittersRCV000662549 RCV001019794 RCV001229515 RCV001584524 RCV004004205

NM_000251.3(MSH2):c.1760-10T>A

SNV
Germline

Chr2:47475015

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA030881

rs_767536391

6 SubmittersRCV001444969 RCV000662919 RCV000838618 RCV003584700

NM_000179.3(MSH6):c.309C>A (p.Tyr103Ter)

SNV
Germline

Chr2:47790975

Pathogenic

Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA346736807

rs_1553410230

4 SubmittersRCV000662582 RCV001390324 RCV002325335

NM_000179.3(MSH6):c.3706G>C (p.Ala1236Pro)

SNV
Germline

Chr2:47806263

Conflicting classifications of pathogenicity

Lynch syndrome 5
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346760990

rs_1553333039

3 SubmittersRCV000662575 RCV003163050

NM_000535.7(PMS2):c.2276-2A>C

SNV
Unknown

Chr7:5977759

Likely pathogenic

Lynch syndrome 4

No Assertion Criteria Provided

CA366736219

rs_1554294019

1 SubmittersRCV000662649

NM_000535.7(PMS2):c.2212G>T (p.Val738Phe)

SNV
Germline

Chr7:5978659

Conflicting classifications of pathogenicity

Lynch syndrome 4
Hereditary nonpolyposis colorectal neoplasms
not specified
Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Mismatch repair cancer syndrome 4

Criteria Provided
Conflicting Classifications

CA047086

rs_758225108

9 SubmittersRCV000662652 RCV001244703 RCV001797773 RCV002255499 RCV005392264

NM_000535.7(PMS2):c.2175-11G>T

SNV
Germline

Chr7:5978707

Conflicting classifications of pathogenicity

Lynch syndrome 4
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA572544126

rs_538914402

4 SubmittersRCV000662651 RCV003584698 RCV003758899

NM_000535.7(PMS2):c.1798A>G (p.Met600Val)

SNV
Germline

Chr7:5986967

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Lynch syndrome
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast

Criteria Provided
Conflicting Classifications

CA366739799

rs_1304634005

9 SubmittersRCV000772030 RCV001061729 RCV000662640 RCV004004206 RCV001030721 RCV001358228

NM_000251.3(MSH2):c.1832T>A (p.Val611Glu)

SNV
Germline

Chr2:47475097

Conflicting classifications of pathogenicity

Lynch syndrome
not specified

Criteria Provided
Conflicting Classifications

CA346728375

rs_1553368590

2 SubmittersRCV000664317 RCV004702272

NM_022552.5(DNMT3A):c.2086C>T (p.Gln696Ter)

SNV
Germline

Chr2:25240727

Likely pathogenic

Tatton-Brown-Rahman overgrowth syndrome

No Assertion Criteria Provided

CA1555759

rs_750325978

1 SubmittersRCV000677427

NM_022552.5(DNMT3A):c.1634A>G (p.Glu545Gly)

SNV
Germline

Chr2:25244573

Likely pathogenic

Tatton-Brown-Rahman overgrowth syndrome

Criteria Provided
Single Submitter

CA346072131

rs_1553412485

1 SubmittersRCV000677682

NM_000540.3(RYR1):c.7836-1G>A

SNV
Germline

Chr19:38502879

Likely pathogenic

Malignant hyperthermia, susceptibility to, 1
Central core myopathy
RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1
Congenital myopathy with fiber type disproportion
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
King Denborough syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA082842

rs_1568507354

3 SubmittersRCV000678325 RCV003591771 RCV002493120

NM_000251.3(MSH2):c.2083G>C (p.Val695Leu)

SNV
Germline

Chr2:47476444

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA033555

rs_772491283

4 SubmittersRCV000679302 RCV001014370 RCV001226997 RCV003459650

NM_000179.3(MSH6):c.2145C>G (p.Asp715Glu)

SNV
Germline

Chr2:47800128

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346751090

rs_1221484522

7 SubmittersRCV000679223 RCV001014567 RCV000812831 RCV004807080

NM_000540.3(RYR1):c.208C>T (p.Gln70Ter)

SNV
Germline

Chr19:38442391

Conflicting classifications of pathogenicity

Central core myopathy
Condition: not provided
RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1
Congenital myopathy with fiber type disproportion
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA405674053

rs_1456276440

5 SubmittersRCV000680086 RCV001784304 RCV001861877 RCV002507180 RCV004004220

NM_000251.3(MSH2):c.2635-2A>G

SNV
Germline

Chr2:47482777

Likely pathogenic

Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA346731302

rs_1114167818

3 SubmittersRCV000680205 RCV001042011

NM_000179.3(MSH6):c.1445G>C (p.Arg482Pro)

SNV
Germline

Chr2:47799428

Likely pathogenic

Lynch syndrome 1

Reviewed By Expert Panel

CA346745661

rs_773226008

1 SubmittersRCV000680206

NM_000179.3(MSH6):c.2234T>A (p.Ile745Asn)

SNV
Germline

Chr2:47800217

Likely pathogenic

Lynch syndrome 1

Reviewed By Expert Panel

CA346752536

rs_1558664787

1 SubmittersRCV000680208

NM_000249.4(MLH1):c.114C>A (p.Asn38Lys)

SNV
Germline

Chr3:36993661

Likely pathogenic

Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA352061243

rs_267607706

2 SubmittersRCV000680195 RCV003758909

NM_000249.4(MLH1):c.117-1G>T

SNV
Germline

Chr3:36996618

Likely pathogenic

Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA352035332

rs_587779950

2 SubmittersRCV000680196 RCV002331313

NM_000249.4(MLH1):c.923A>C (p.His308Pro)

SNV
Germline

Chr3:37020348

Likely pathogenic

Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA352048631

rs_1559543768

3 SubmittersRCV000680200 RCV002369811 RCV001861879

NM_000535.7(PMS2):c.706-2A>T

SNV
Germline

Chr7:5997425

Likely pathogenic

Condition: not provided
Lynch syndrome 4
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA153239785

rs_745487791

4 SubmittersRCV000681963 RCV003485629 RCV001379300

NM_000251.3(MSH2):c.7G>A (p.Val3Met)

SNV
Germline

Chr2:47403198

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346728404

rs_1257347271

5 SubmittersRCV000706952 RCV000776681 RCV003460988 RCV003999779

NM_000251.3(MSH2):c.10C>T (p.Gln4Ter)

SNV
Germline

Chr2:47403201

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346728415

rs_878853797

5 SubmittersRCV000701344 RCV002424689 RCV003155289 RCV003453490

NM_000251.3(MSH2):c.482T>C (p.Val161Ala)

SNV
Germline

Chr2:47410209

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Breast carcinoma
Ependymoma

Criteria Provided
Conflicting Classifications

CA346730609

rs_63750126

6 SubmittersRCV000685129 RCV002331318 RCV003992370 RCV001554318 RCV002286419

NM_000251.3(MSH2):c.2366C>G (p.Ala789Gly)

SNV
Germline

Chr2:47478427

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346730035

rs_876660292

4 SubmittersRCV000695831 RCV000773306 RCV003465594

NM_000251.3(MSH2):c.2459-1G>C

SNV
Germline

Chr2:47480695

Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346730509

rs_1060501991

4 SubmittersRCV000698818 RCV002298743 RCV003279017 RCV003453475

NM_000251.3(MSH2):c.39C>G (p.Ser13Arg)

SNV
Germline

Chr2:47403230

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346728528

rs_1060502015

4 SubmittersRCV000695223 RCV002473115 RCV003460939 RCV003303146

NM_000251.3(MSH2):c.2270A>G (p.Tyr757Cys)

SNV
Germline

Chr2:47478331

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346729799

rs_780448421

3 SubmittersRCV000690793 RCV001015003 RCV004807087

NM_000251.3(MSH2):c.2645A>C (p.Lys882Thr)

SNV
Germline

Chr2:47482789

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Muir-Torré syndrome
Mismatch repair cancer syndrome 2
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346731362

rs_1284087975

5 SubmittersRCV000691943 RCV001525887 RCV005027855 RCV004807090

NM_000179.3(MSH6):c.394C>T (p.Gln132Ter)

SNV
Germline

Chr2:47791060

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA346737073

rs_587782101

3 SubmittersRCV000699082 RCV003485632 RCV002352177

NM_000179.3(MSH6):c.1767T>A (p.Tyr589Ter)

SNV
Germline

Chr2:47799750

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colon cancer
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346749116

rs_1558662873

4 SubmittersRCV000685854 RCV003303110 RCV003323684 RCV003453405

NM_014159.7(SETD2):c.2819G>T (p.Gly940Val)

SNV
Germline

Chr3:47121817

Conflicting classifications of pathogenicity

Luscan-Lumish syndrome

Criteria Provided
Conflicting Classifications

CA2363481

rs_751707090

2 SubmittersRCV000696563

NM_000249.4(MLH1):c.1945C>T (p.Pro649Ser)

SNV
Germline

Chr3:37048565

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA352065748

rs_1280930048

5 SubmittersRCV000688390 RCV001013801 RCV004004281 RCV001284502

NM_014159.7(SETD2):c.2452A>C (p.Lys818Gln)

SNV
Germline

Chr3:47122184

Conflicting classifications of pathogenicity

Luscan-Lumish syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2363529

rs_772334379

2 SubmittersRCV000685663 RCV005480445

NM_014159.7(SETD2):c.1414C>T (p.Arg472Cys)

SNV
Germline

Chr3:47123222

Conflicting classifications of pathogenicity

Inborn genetic diseases
Luscan-Lumish syndrome

Criteria Provided
Conflicting Classifications

CA2363691

rs_771203643

3 SubmittersRCV003362914 RCV000703479

NM_000251.3(MSH2):c.192C>G (p.Ile64Met)

SNV
Germline

Chr2:47403383

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346729028

rs_1395172053

5 SubmittersRCV000772252 RCV002271568 RCV000695203 RCV003999635

NM_000251.3(MSH2):c.598G>A (p.Val200Ile)

SNV
Germline

Chr2:47410325

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346731049

rs_1558459684

5 SubmittersRCV000694159 RCV001771962 RCV002352150 RCV004569320 RCV003999611

NM_000251.3(MSH2):c.1013G>T (p.Gly338Val)

SNV
Germline

Chr2:47416366

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346733147

rs_587779065

4 SubmittersRCV000689433 RCV001269518 RCV003453433 RCV002352132

NM_000251.3(MSH2):c.1111G>T (p.Glu371Ter)

SNV
Germline

Chr2:47429776

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346733591

rs_1060501994

3 SubmittersRCV000685845 RCV002440422 RCV005427241

NM_000251.3(MSH2):c.2326G>A (p.Ala776Thr)

SNV
Germline

Chr2:47478387

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Muir-Torré syndrome
Lynch syndrome 1
Mismatch repair cancer syndrome 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346729904

rs_1558521842

3 SubmittersRCV000686668 RCV005357909 RCV002458205

NM_000251.3(MSH2):c.2496G>T (p.Glu832Asp)

SNV
Germline

Chr2:47480733

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA036265

rs_763361583

2 SubmittersRCV000702508 RCV003999729

NM_000251.3(MSH2):c.2681T>C (p.Met894Thr)

SNV
Germline

Chr2:47482825

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346731538

rs_1558526026

4 SubmittersRCV000698986 RCV001190392 RCV003999685

NM_000179.3(MSH6):c.1513T>C (p.Tyr505His)

SNV
Germline

Chr2:47799496

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
not specified
Hereditary cancer-predisposing syndrome
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA346746307

rs_1558661932

6 SubmittersRCV000697076 RCV002307598 RCV002388276 RCV003999663 RCV004569339

NM_000179.3(MSH6):c.1515T>G (p.Tyr505Ter)

SNV
Germline

Chr2:47799498

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346746328

rs_878853704

2 SubmittersRCV000706233 RCV003453502

NM_000179.3(MSH6):c.2386G>T (p.Glu796Ter)

SNV
Germline

Chr2:47800369

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346753798

rs_1558665297

3 SubmittersRCV000695381 RCV002424656 RCV003453460

NM_000179.3(MSH6):c.2551A>G (p.Ser851Gly)

SNV
Germline

Chr2:47800534

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA069172

rs_762352116

6 SubmittersRCV000704606 RCV001015904 RCV001775976 RCV002298748 RCV004807107

NM_000179.3(MSH6):c.3018C>G (p.Tyr1006Ter)

SNV
Germline

Chr2:47801001

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346756434

rs_1553414395

3 SubmittersRCV000694583 RCV002440471 RCV003453457

NM_000179.3(MSH6):c.3416G>A (p.Gly1139Asp)

SNV
Germline

Chr2:47803663

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA346758917

rs_1316409501

6 SubmittersRCV000704717 RCV001524596 RCV003453499 RCV004721570

NM_000179.3(MSH6):c.3443G>C (p.Gly1148Ala)

SNV
Germline

Chr2:47804914

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA070952

rs_763058648

4 SubmittersRCV002255503 RCV000685016 RCV004802350

NM_000249.4(MLH1):c.1078G>C (p.Val360Leu)

SNV
Germline

Chr3:37025676

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Conflicting Classifications

CA352052096

rs_878853775

4 SubmittersRCV000697943 RCV002422545 RCV003999674 RCV005249027

NM_000251.3(MSH2):c.11A>C (p.Gln4Pro)

SNV
Germline

Chr2:47403202

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346728417

rs_754562075

5 SubmittersRCV000699823 RCV001010272 RCV001771985 RCV003460965

NM_000251.3(MSH2):c.576C>G (p.Ile192Met)

SNV
Germline

Chr2:47410303

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA46678335

rs_864622381

5 SubmittersRCV000702160 RCV001175679 RCV003460973 RCV003999726

NM_000251.3(MSH2):c.896A>G (p.Tyr299Cys)

SNV
Germline/somatic

Chr2:47414372

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346732933

rs_1558464315

4 SubmittersRCV000687665 RCV000758588 RCV001018555 RCV003465561

NM_014159.7(SETD2):c.7350+6T>C

SNV
Germline

Chr3:47037660

Conflicting classifications of pathogenicity

Luscan-Lumish syndrome
Condition: not provided
SETD2-related disorder

Criteria Provided
Conflicting Classifications

CA2362519

rs_369951554

3 SubmittersRCV000701722 RCV003432745 RCV004535746

NM_014159.7(SETD2):c.5872G>C (p.Ala1958Pro)

SNV
Germline

Chr3:47083908

Conflicting classifications of pathogenicity

Luscan-Lumish syndrome
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2362840

rs_377115716

3 SubmittersRCV000691007 RCV002544899 RCV003437397

NM_014159.7(SETD2):c.1664A>C (p.Tyr555Ser)

SNV
Germline

Chr3:47122972

Conflicting classifications of pathogenicity

Luscan-Lumish syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2363651

rs_573301881

2 SubmittersRCV000689307 RCV004026325

NM_000251.3(MSH2):c.1607A>G (p.Asn536Ser)

SNV
Germline

Chr2:47466754

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA46685175

rs_201722703

4 SubmittersRCV000697547 RCV000774570 RCV003999668

NM_000251.3(MSH2):c.1759+1G>T

SNV
Germline/somatic

Chr2:47471063

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346728240

rs_587779108

4 SubmittersRCV000686749 RCV000758656 RCV002406539 RCV003322612

NM_000535.7(PMS2):c.2175-1G>C

SNV
Germline

Chr7:5978697

Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA366736996

rs_1562605623

4 SubmittersRCV000706835 RCV003453507 RCV004944131

NM_000179.3(MSH6):c.211A>C (p.Asn71His)

SNV
Germline

Chr2:47783444

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Lynch syndrome 5
Mismatch repair cancer syndrome 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346735061

rs_1558645379

3 SubmittersRCV000693238 RCV005027861 RCV005443139

NM_000535.7(PMS2):c.1249A>G (p.Ile417Val)

SNV
Germline

Chr7:5987516

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Mismatch repair cancer syndrome 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA366742482

rs_1060503132

5 SubmittersRCV000691359 RCV000776873 RCV005046934 RCV002477557

NM_000535.7(PMS2):c.537+5A>G

SNV
Germline

Chr7:6002448

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA891843337

rs_1562688519

4 SubmittersRCV000704350 RCV001023988 RCV003999751

NM_000535.7(PMS2):c.803+1G>T

SNV
Germline

Chr7:5997325

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 4
PMS2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA366743597

rs_1562669585

6 SubmittersRCV000700344 RCV001784337 RCV002422563 RCV003453480 RCV004723104

NM_000535.7(PMS2):c.8G>T (p.Arg3Leu)

SNV
Germline

Chr7:6009012

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA052196

rs_375507981

5 SubmittersRCV000696078 RCV001177038 RCV003460944 RCV003999650

NM_000249.4(MLH1):c.440G>A (p.Gly147Glu)

SNV
Germline

Chr3:37007050

Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA352039355

rs_1060500702

3 SubmittersRCV000696093 RCV000781989 RCV002332456

NM_000249.4(MLH1):c.1279C>T (p.Gln427Ter)

SNV
Germline

Chr3:37025877

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA352053041

rs_1559553501

5 SubmittersRCV000692188 RCV003999578 RCV002307594 RCV003453448 RCV002386200

NM_014159.7(SETD2):c.2113T>G (p.Ser705Ala)

SNV
Germline

Chr3:47122523

Conflicting classifications of pathogenicity

Luscan-Lumish syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2363584

rs_746219041

2 SubmittersRCV000685662 RCV005480444

NM_014159.7(SETD2):c.1833G>T (p.Lys611Asn)

SNV
Germline

Chr3:47122803

Conflicting classifications of pathogenicity

Luscan-Lumish syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2363627

rs_575862721

4 SubmittersRCV000706329 RCV004808854

NM_000535.7(PMS2):c.1771T>C (p.Cys591Arg)

SNV
Germline

Chr7:5986994

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome
PMS2-related disorder

Criteria Provided
Conflicting Classifications

CA045524

rs_764252217

7 SubmittersRCV000693132 RCV000772031 RCV001816711 RCV001358468 RCV004742579

NM_000535.7(PMS2):c.1297A>G (p.Lys433Glu)

SNV
Germline

Chr7:5987468

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA366742389

rs_863224496

3 SubmittersRCV000700268 RCV002386238 RCV003999704

NM_000535.7(PMS2):c.251-1G>T

SNV
Germline

Chr7:6003793

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366744734

rs_764171734

3 SubmittersRCV000689815 RCV002424609 RCV003453438

NM_024426.6(WT1):c.440A>G (p.Gln147Arg)

SNV
Germline

Chr11:32434921

Conflicting classifications of pathogenicity

Drash syndrome
Frasier syndrome
Wilms tumor 1
11p partial monosomy syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA064944

rs_764552529

2 SubmittersRCV000706470 RCV004965708

NM_018344.6(SLC29A3):c.707C>T (p.Thr236Met)

SNV
Germline

Chr10:71356177

Conflicting classifications of pathogenicity

H syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5543025

rs_147552838

5 SubmittersRCV000699490 RCV001868313

NM_024426.6(WT1):c.586G>A (p.Gly196Ser)

SNV
Germline

Chr11:32434775

Conflicting classifications of pathogenicity

Drash syndrome
Frasier syndrome
Wilms tumor 1
11p partial monosomy syndrome
Inborn genetic diseases
Drash syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA065062

rs_756501972

4 SubmittersRCV000706374 RCV004965707 RCV003460984 RCV003153822

NM_024426.6(WT1):c.344C>A (p.Pro115His)

SNV
Germline

Chr11:32435017

Conflicting classifications of pathogenicity

Frasier syndrome
Drash syndrome
Wilms tumor 1
11p partial monosomy syndrome
Wilms tumor 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA379965883

rs_1565001804

3 SubmittersRCV000691969 RCV003999571 RCV005298584

NM_000108.5(DLD):c.55C>G (p.Arg19Gly)

SNV
Germline

Chr7:107893215

Conflicting classifications of pathogenicity

Pyruvate dehydrogenase E3 deficiency
Condition: not provided
Leigh syndrome
Pyruvate dehydrogenase complex deficiency

Criteria Provided
Conflicting Classifications

CA4434339

rs_144038427

4 SubmittersRCV000701637 RCV001561816 RCV001163783 RCV001163784

NM_018344.6(SLC29A3):c.479G>A (p.Trp160Ter)

SNV
Germline

Chr10:71351657

Pathogenic/Likely pathogenic

H syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA5542942

rs_776960135

2 SubmittersRCV000695799 RCV001726306

NM_000535.7(PMS2):c.2275+2T>C

SNV
Germline

Chr7:5978594

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4
PMS2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA366736378

rs_1562604682

4 SubmittersRCV000702280 RCV002442511 RCV003453491 RCV003420251

NM_000535.7(PMS2):c.1201G>C (p.Asp401His)

SNV
Germline

Chr7:5987564

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA366742578

rs_1284362486

4 SubmittersRCV000772183 RCV000705206 RCV003999763

NM_000535.7(PMS2):c.804-1G>A

SNV
Germline/somatic

Chr7:5995634

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA366743589

rs_1562664845

7 SubmittersRCV000694626 RCV000758693 RCV001027099 RCV003453458 RCV004719953

NM_000535.7(PMS2):c.634C>T (p.Gln212Ter)

SNV
Germline

Chr7:5999179

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366743945

rs_1562678257

5 SubmittersRCV000696743 RCV000777285 RCV003231588 RCV003453466

NM_024426.6(WT1):c.1478G>A (p.Ser493Asn)

SNV
Germline

Chr11:32389149

Conflicting classifications of pathogenicity

Drash syndrome
Wilms tumor 1
11p partial monosomy syndrome
Frasier syndrome
Wilms tumor 1
Frasier syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA219471719

rs_763551837

5 SubmittersRCV000701673 RCV000709137 RCV001294137 RCV005512801

NM_024426.6(WT1):c.832C>G (p.Pro278Ala)

SNV
Germline

Chr11:32428011

Conflicting classifications of pathogenicity

Drash syndrome
Frasier syndrome
Wilms tumor 1
11p partial monosomy syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA065682

rs_773527284

2 SubmittersRCV000700393 RCV004965693

NM_000540.3(RYR1):c.13104G>A (p.Val4368=)

SNV
Germline

Chr19:38565438

Conflicting classifications of pathogenicity

RYR1-related disorder
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
Congenital myopathy with fiber type disproportion

Criteria Provided
Conflicting Classifications

CA507355614

rs_1357186643

2 SubmittersRCV000703165 RCV002499265

NM_000540.3(RYR1):c.1342A>T (p.Ile448Phe)

SNV
Germline

Chr19:38452916

Conflicting classifications of pathogenicity

RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
King Denborough syndrome
Centronuclear myopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA308120715

rs_911417327

4 SubmittersRCV000692043 RCV005392294 RCV004586880 RCV005001101

NM_000540.3(RYR1):c.14869-5C>G

SNV
Germline

Chr19:38586086

Conflicting classifications of pathogenicity

RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion

Criteria Provided
Conflicting Classifications

CA891844342

rs_1199304403

2 SubmittersRCV000695461 RCV002499246

NM_000540.3(RYR1):c.2531G>A (p.Cys844Tyr)

SNV
Germline

Chr19:38460545

Conflicting classifications of pathogenicity

RYR1-related disorder
Condition: not provided
Malignant hyperthermia, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 1
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion
King Denborough syndrome

Criteria Provided
Conflicting Classifications

CA063399

rs_146754847

6 SubmittersRCV000693319 RCV000721454 RCV003999596 RCV002477569

NM_000540.3(RYR1):c.4444G>A (p.Val1482Ile)

SNV
Germline

Chr19:38477860

Conflicting classifications of pathogenicity

RYR1-related disorder
Inborn genetic diseases
Malignant hyperthermia, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 1
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion
King Denborough syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA066054

rs_747718728

7 SubmittersRCV000693287 RCV002531464 RCV003999595 RCV002477568 RCV003130003

NM_000377.3(WAS):c.734+2T>A

SNV
Germline

ChrX:48686957

Pathogenic

X-linked severe congenital neutropenia
Thrombocytopenia 1
Wiskott-Aldrich syndrome

Criteria Provided
Single Submitter

CA412871162

rs_1569493877

1 SubmittersRCV000700442

NM_000179.3(MSH6):c.2622C>T (p.Ile874=)

SNV
Germline

Chr2:47800605

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA426121889

rs_1200093419

6 SubmittersRCV000708717 RCV002060883 RCV001592913 RCV005422949

NM_000179.3(MSH6):c.2665C>T (p.Gln889Ter)

SNV
Germline

Chr2:47800648

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA346755221

rs_1558666177

5 SubmittersRCV000708612 RCV003453510 RCV003999789 RCV003758910

NM_000535.7(PMS2):c.1414A>T (p.Lys472Ter)

SNV
Germline

Chr7:5987351

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA366742066

rs_1562633172

3 SubmittersRCV000708623 RCV002534479 RCV005357953

NM_000535.7(PMS2):c.852A>G (p.Ser284=)

SNV
Germline

Chr7:5995585

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA052002

rs_766177007

6 SubmittersRCV000708735 RCV000872839 RCV003999790 RCV005422951

NM_000251.3(MSH2):c.2012A>G (p.Asn671Ser)

SNV
Germline

Chr2:47476373

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346729083

rs_1558519505

6 SubmittersRCV000708839 RCV001064045 RCV001014077 RCV005601087

NM_000251.3(MSH2):c.2766T>G (p.Phe922Leu)

SNV
Germline

Chr2:47482910

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA346732071

rs_55859129

5 SubmittersRCV000708847 RCV002440558 RCV004997219 RCV003758911

NM_000179.3(MSH6):c.923G>C (p.Gly308Ala)

SNV
Germline

Chr2:47798906

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346740745

rs_1553412354

3 SubmittersRCV000708860 RCV001861934 RCV004944132

NM_000179.3(MSH6):c.2752C>T (p.His918Tyr)

SNV
Germline

Chr2:47800735

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 5
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346755422

rs_1558666591

8 SubmittersRCV001047029 RCV000734437 RCV000986726 RCV001016502

NM_000249.4(MLH1):c.1453G>T (p.Asp485Tyr)

SNV
Germline

Chr3:37028827

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
not specified

Criteria Provided
Conflicting Classifications

CA352056312

rs_63750314

9 SubmittersRCV000708925 RCV001011662 RCV001057018 RCV001358006 RCV003460992 RCV004782523

NM_000535.7(PMS2):c.825A>T (p.Gln275His)

SNV
Germline

Chr7:5995612

Conflicting classifications of pathogenicity

Lynch syndrome 4
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA366743542

rs_876659736

7 SubmittersRCV000987842 RCV001046149 RCV001188465 RCV004807113 RCV003156288

NM_024426.6(WT1):c.649A>G (p.Ile217Val)

SNV
Germline

Chr11:32434712

Conflicting classifications of pathogenicity

Wilms tumor 1
Drash syndrome
Frasier syndrome
Wilms tumor 1
11p partial monosomy syndrome

Criteria Provided
Conflicting Classifications

CA379964419

rs_1384974578

3 SubmittersRCV000709142 RCV001067017

NM_024426.6(WT1):c.472G>T (p.Glu158Ter)

SNV
Unknown

Chr11:32434889

Pathogenic

Drash syndrome

Criteria Provided
Single Submitter

CA379964969

rs_1565001383

1 SubmittersRCV000988519

NM_002495.4(NDUFS4):c.355G>C (p.Asp119His)

SNV
Germline

Chr5:53658555

Pathogenic/Likely pathogenic

Mitochondrial complex I deficiency
Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA3264293

rs_747359752

4 SubmittersRCV000714799 RCV000714800 RCV002532977 RCV003558540

NM_000540.3(RYR1):c.1198G>A (p.Ala400Thr)

SNV
Germline

Chr19:38451839

Conflicting classifications of pathogenicity

Condition: not provided
RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA308119861

rs_777016690

5 SubmittersRCV000721257 RCV000820328 RCV004807114 RCV005027887

NM_000540.3(RYR1):c.2287G>A (p.Val763Met)

SNV
Germline

Chr19:38459265

Conflicting classifications of pathogenicity

Condition: not provided
RYR1-related disorder
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA063078

rs_369947687

4 SubmittersRCV000721445 RCV002533063 RCV005004387

NM_000540.3(RYR1):c.5314A>G (p.Arg1772Gly)

SNV
Germline

Chr19:38485969

Conflicting classifications of pathogenicity

Condition: not provided
RYR1-related disorder
Central core myopathy
Congenital myopathy with fiber type disproportion
Congenital multicore myopathy with external ophthalmoplegia
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA405654623

rs_1568484835

4 SubmittersRCV000721586 RCV001036189 RCV002493289

NM_000540.3(RYR1):c.9001-15C>A

SNV
Germline

Chr19:38510645

Conflicting classifications of pathogenicity

Condition: not provided
Central core myopathy
Congenital myopathy with fiber type disproportion
Congenital multicore myopathy with external ophthalmoplegia
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 1
RYR1-related disorder

Criteria Provided
Conflicting Classifications

CA073057

rs_372702492

4 SubmittersRCV000721725 RCV002485829 RCV003999866 RCV003768164

NM_000540.3(RYR1):c.9892G>A (p.Ala3298Thr)

SNV
Germline

Chr19:38517565

Conflicting classifications of pathogenicity

Condition: not provided
RYR1-related disorder
Central core myopathy
Congenital myopathy with fiber type disproportion
Congenital multicore myopathy with external ophthalmoplegia
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1
Centronuclear myopathy

Criteria Provided
Conflicting Classifications

CA074292

rs_544339193

5 SubmittersRCV000721762 RCV001312367 RCV002485830 RCV004586902

NM_000540.3(RYR1):c.13180G>A (p.Glu4394Lys)

SNV
Germline

Chr19:38565514

Conflicting classifications of pathogenicity

Condition: not provided
RYR1-related disorder
Congenital myopathy with fiber type disproportion
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA059617

rs_748844266

7 SubmittersRCV000721305 RCV001362581 RCV002507264 RCV004026924 RCV004702371

NM_000540.3(RYR1):c.14173-2A>G

SNV
Germline

Chr19:38577916

Conflicting classifications of pathogenicity

Condition: not provided
RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA405684067

rs_1189024951

6 SubmittersRCV000721355 RCV000814221 RCV003999821 RCV005004386

NM_000540.3(RYR1):c.15016G>A (p.Gly5006Ser)

SNV
Germline

Chr19:38586571

Pathogenic/Likely pathogenic

Condition: not provided
Central core myopathy
RYR1-related disorder
Central core myopathy
King Denborough syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA405693838

rs_1568614042

4 SubmittersRCV000721411 RCV000785960 RCV001206699 RCV005409728

NM_015272.5(RPGRIP1L):c.583A>T (p.Lys195Ter)

SNV
Germline

Chr16:53687912

Pathogenic/Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome
Condition: not provided
Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3
RPGRIP1L-related disorder
Joubert syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA395924473

rs_1277577195

6 SubmittersRCV000812456 RCV000722572 RCV002507274 RCV004733019 RCV001273840

NM_001378615.1(CC2D2A):c.4553G>A (p.Arg1518Gln)

SNV
Germline

Chr4:15599585

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
not specified
Joubert syndrome 9
Retinitis pigmentosa 93
Meckel syndrome, type 6
COACH syndrome 2

Criteria Provided
Conflicting Classifications

CA2864415

rs_200645738

7 SubmittersRCV000728777 RCV001245116 RCV003994099 RCV005036052

NM_018344.6(SLC29A3):c.384-10C>T

SNV
Germline

Chr10:71351552

Conflicting classifications of pathogenicity

Condition: not provided
H syndrome

Criteria Provided
Conflicting Classifications

CA5542922

rs_772475005

2 SubmittersRCV000729020 RCV003645873

NM_001378615.1(CC2D2A):c.949G>A (p.Gly317Arg)

SNV
Germline

Chr4:15515936

Conflicting classifications of pathogenicity

Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
Meckel syndrome, type 6
Joubert syndrome 9
COACH syndrome 2
Retinitis pigmentosa 93

Criteria Provided
Conflicting Classifications

CA2863525

rs_188018643

3 SubmittersRCV000730217 RCV001868951 RCV005036060

NM_018344.6(SLC29A3):c.687C>T (p.Ser229=)

SNV
Germline

Chr10:71356157

Conflicting classifications of pathogenicity

Condition: not provided
H syndrome
SLC29A3-related disorder

Criteria Provided
Conflicting Classifications

CA5543019

rs_113542201

5 SubmittersRCV000731184 RCV001083245 RCV003947927

NM_015272.5(RPGRIP1L):c.2125C>T (p.Arg709Ter)

SNV
Germline

Chr16:53652562

Pathogenic/Likely pathogenic

Condition: not provided
Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3
Meckel-Gruber syndrome
Joubert syndrome
RPGRIP1L-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA281343836

rs_1037406858

4 SubmittersRCV000732387 RCV002485914 RCV001855682 RCV004535855

NM_001378615.1(CC2D2A):c.4583G>A (p.Arg1528His)

SNV
Germline

Chr4:15599615

Conflicting classifications of pathogenicity

Condition: not provided
not specified
COACH syndrome 2
Meckel-Gruber syndrome
Joubert syndrome
CC2D2A-related disorder
Meckel syndrome, type 6
Joubert syndrome 9
COACH syndrome 2
Retinitis pigmentosa 93

Criteria Provided
Conflicting Classifications

CA92536417

rs_886940102

7 SubmittersRCV000733512 RCV003155300 RCV004798862 RCV003106045 RCV004527765 RCV005036071

NM_001378615.1(CC2D2A):c.751G>A (p.Glu251Lys)

SNV
Germline

Chr4:15514740

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Joubert syndrome
Meckel syndrome, type 6
Condition: not provided
Joubert syndrome 9
CC2D2A-related disorder
Inborn genetic diseases
Meckel syndrome, type 6
Joubert syndrome 9
COACH syndrome 2
Retinitis pigmentosa 93

Criteria Provided
Conflicting Classifications

CA2863489

rs_374554530

6 SubmittersRCV001063569 RCV001145025 RCV000734125 RCV001145026 RCV004527766 RCV003258954 RCV005029398

NM_024426.6(WT1):c.1388G>A (p.Arg463Gln)

SNV
Germline

Chr11:32392031

Conflicting classifications of pathogenicity

Nephrotic syndrome, type 4
8 conditions
Focal segmental glomerulosclerosis
Frasier syndrome
Drash syndrome
Wilms tumor 1
11p partial monosomy syndrome
Wilms tumor 1
Drash syndrome
6 conditions
Condition: not provided

Criteria Provided
Conflicting Classifications

CA219474059

rs_1037084691

8 SubmittersRCV000735697 RCV001535956 RCV001195711 RCV001302945 RCV004802409 RCV003338777 RCV005049678 RCV004702388

NM_003172.4(SURF1):c.833+1G>A

SNV
Germline

Chr9:133352060

Pathogenic

Leigh syndrome
not specified
Mitochondrial complex IV deficiency, nuclear type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA375693425

rs_782609482

5 SubmittersRCV000735985 RCV000781906 RCV002272341 RCV001784364

NM_000540.3(RYR1):c.4837C>T (p.Gln1613Ter)

SNV
Germline

Chr19:38483419

Pathogenic/Likely pathogenic

Central core myopathy
RYR1-related disorder
Centronuclear myopathy
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
King Denborough syndrome
Central core myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA405650606

rs_1332371891

4 SubmittersRCV000754733 RCV002536549 RCV004586913 RCV005021145

NM_000251.3(MSH2):c.1015C>T (p.Gln339Ter)

SNV
Germline

Chr2:47416368

Pathogenic/Likely pathogenic

Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA346733150

rs_1558466577

4 SubmittersRCV000755026 RCV002334414

NM_000179.3(MSH6):c.2092C>T (p.Gln698Ter)

SNV
Germline

Chr2:47800075

Pathogenic/Likely pathogenic

Lynch syndrome 1
Hereditary nonpolyposis colon cancer
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346750867

rs_63750832

4 SubmittersRCV000755028 RCV002282352 RCV002536550 RCV003453537

NM_000179.3(MSH6):c.3820G>T (p.Glu1274Ter)

SNV
Germline

Chr2:47806470

Pathogenic/Likely pathogenic

Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA346761248

rs_587779294

2 SubmittersRCV000755029 RCV002352259

NM_000251.3(MSH2):c.432C>T (p.Ser144=)

SNV
Germline/somatic

Chr2:47410159

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA426119468

rs_1558459072

3 SubmittersRCV000758660 RCV001404011 RCV002332539

NM_000251.3(MSH2):c.480G>T (p.Gln160His)

SNV
Germline/somatic

Chr2:47410207

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346730604

rs_1558459273

2 SubmittersRCV000758587 RCV002334420

NM_000251.3(MSH2):c.1071G>A (p.Glu357=)

SNV
Germline/somatic

Chr2:47416424

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA425973309

rs_587781617

5 SubmittersRCV000758661 RCV003768276 RCV004027162 RCV005249033 RCV005367534

NM_000251.3(MSH2):c.2095T>C (p.Ser699Pro)

SNV
Germline/somatic

Chr2:47476456

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Muir-Torré syndrome
Mismatch repair cancer syndrome 2

Criteria Provided
Conflicting Classifications

CA346729226

rs_1428704795

3 SubmittersRCV000758655 RCV004027161 RCV005392353

NM_000251.3(MSH2):c.2360T>G (p.Leu787Arg)

SNV
Germline/somatic

Chr2:47478421

Pathogenic/Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colon cancer
Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA346730002

rs_1558521929

4 SubmittersRCV000758593 RCV001269395 RCV003453545 RCV002442567

NM_000179.3(MSH6):c.133G>T (p.Gly45Cys)

SNV
Germline/somatic

Chr2:47783366

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346734898

rs_978968846

2 SubmittersRCV000758663 RCV002386319

NM_000179.3(MSH6):c.911T>C (p.Val304Ala)

SNV
Germline/somatic

Chr2:47798894

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346740720

rs_1481054050

2 SubmittersRCV000758603 RCV004027158

NM_000179.3(MSH6):c.971A>G (p.Lys324Arg)

SNV
Germline/somatic

Chr2:47798954

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346740950

rs_1558659961

3 SubmittersRCV000758604 RCV001301123 RCV004027159

NM_000179.3(MSH6):c.1207C>A (p.Leu403Ile)

SNV
Germline/somatic

Chr2:47799190

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346743464

rs_876659223

2 SubmittersRCV000758609 RCV002343610

NM_000179.3(MSH6):c.1290G>A (p.Gly430=)

SNV
Germline/somatic

Chr2:47799273

Conflicting classifications of pathogenicity

not specified
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA426120895

rs_1558661242

4 SubmittersRCV001194364 RCV000758621 RCV002533819 RCV005422954

NM_000179.3(MSH6):c.1401C>T (p.Gly467=)

SNV
Somatic

Chr2:47799384

Conflicting classifications of pathogenicity

Lynch syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA426121155

rs_1558661556

2 SubmittersRCV000758622 RCV005427250

NM_000179.3(MSH6):c.1904G>A (p.Arg635Lys)

SNV
Germline/somatic

Chr2:47799887

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA346750130

rs_1558663439

2 SubmittersRCV000758612 RCV000819245

NM_000179.3(MSH6):c.3185G>A (p.Cys1062Tyr)

SNV
Germline/somatic

Chr2:47803432

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346757836

rs_1558386797

2 SubmittersRCV000758678 RCV002325458

NM_000179.3(MSH6):c.3470G>A (p.Gly1157Asp)

SNV
Germline/somatic

Chr2:47804941

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA346760094

rs_752212361

6 SubmittersRCV000758614 RCV001175727 RCV003453547 RCV004788156 RCV005092182

NM_000179.3(MSH6):c.3963A>G (p.Arg1321=)

SNV
Germline/somatic

Chr2:47806613

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA426122191

rs_267608125

2 SubmittersRCV000758627 RCV001805839

NM_000179.3(MSH6):c.3964G>A (p.Glu1322Lys)

SNV
Germline/somatic

Chr2:47806614

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA346761549

rs_1553333707

3 SubmittersRCV000758616 RCV001021540 RCV005092183

NM_000179.3(MSH6):c.4018A>G (p.Ser1340Gly)

SNV
Germline/somatic

Chr2:47806795

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346761651

rs_1558395603

2 SubmittersRCV000758617 RCV001021668

NM_000249.4(MLH1):c.3G>T (p.Met1Ile)

SNV
Somatic

Chr3:36993550

Likely pathogenic

Lynch syndrome
Lynch-like syndrome

Criteria Provided
Single Submitter

CA352059802

rs_72481822

2 SubmittersRCV000758583 RCV001249905

NM_000249.4(MLH1):c.100G>A (p.Glu34Lys)

SNV
Germline/somatic

Chr3:36993647

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Conflicting Classifications

CA352061093

rs_1559500884

4 SubmittersRCV000758634 RCV001016980 RCV003594028 RCV005601093

NM_000249.4(MLH1):c.113A>C (p.Asn38Thr)

SNV
Germline/somatic

Chr3:36993660

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA352061233

rs_587778888

2 SubmittersRCV000758567 RCV002458360

NM_000249.4(MLH1):c.131C>A (p.Ser44Tyr)

SNV
Germline/somatic

Chr3:36996633

Pathogenic/Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA352035364

rs_63751109

3 SubmittersRCV000758568 RCV002386318 RCV004773125

NM_000249.4(MLH1):c.1960C>T (p.Pro654Ser)

SNV
Germline/somatic

Chr3:37048580

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA352065821

rs_1559591314

3 SubmittersRCV000758635 RCV002422642 RCV003117543

NM_000249.4(MLH1):c.1979T>C (p.Leu660Pro)

SNV
Germline/somatic

Chr3:37048599

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA352065930

rs_1559591546

2 SubmittersRCV000758636 RCV001855909

NM_000535.7(PMS2):c.2075A>G (p.Asn692Ser)

SNV
Germline/somatic

Chr7:5982923

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome
Mismatch repair cancer syndrome 4

Criteria Provided
Conflicting Classifications

CA366738055

rs_1562615666

3 SubmittersRCV000758681 RCV003584736 RCV005367535

NM_000535.7(PMS2):c.475G>C (p.Val159Leu)

SNV
Germline/somatic

Chr7:6002515

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA366744280

rs_142416537

3 SubmittersRCV000758688 RCV001236201 RCV005401601

NM_000535.7(PMS2):c.195T>C (p.Leu65=)

SNV
Germline/somatic

Chr7:6004027

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA045985

rs_780080040

4 SubmittersRCV000758632 RCV002422641 RCV005422955

NM_000251.3(MSH2):c.366+2T>C

SNV
Germline/somatic

Chr2:47408557

Pathogenic/Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA346730175

rs_1558457533

2 SubmittersRCV000758597 RCV002458361

NM_000251.3(MSH2):c.1277-2A>T

SNV
Germline/somatic

Chr2:47445546

Pathogenic/Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA346724480

rs_267607949

2 SubmittersRCV000758598 RCV002370011

NM_000251.3(MSH2):c.1511-1G>A

SNV
Germline/somatic

Chr2:47466657

Pathogenic/Likely pathogenic

Lynch syndrome
Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA346727701

rs_267607964

4 SubmittersRCV000758599 RCV003453546 RCV002388377

NM_000251.3(MSH2):c.2006-1G>T

SNV
Germline/somatic

Chr2:47476366

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA346729074

rs_267607988

5 SubmittersRCV000758657 RCV001187975 RCV003453554 RCV004596334

NM_000251.3(MSH2):c.2458+2T>C

SNV
Germline/somatic

Chr2:47478521

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346730325

rs_1278858560

3 SubmittersRCV000758658 RCV001015600 RCV003453555

NM_000251.3(MSH2):c.2634+2T>C

SNV
Germline/somatic

Chr2:47480873

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA346731197

rs_876660546

2 SubmittersRCV000758659 RCV002458362

NM_000179.3(MSH6):c.457G>T (p.Gly153Cys)

SNV
Germline/somatic

Chr2:47791123

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346737211

rs_1060502885

2 SubmittersRCV000758620 RCV002334421

NM_000179.3(MSH6):c.3438+2T>C

SNV
Germline/somatic

Chr2:47803687

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA46716168

rs_1033749344

4 SubmittersRCV000758618 RCV001020307 RCV001377436 RCV003453548

NM_000179.3(MSH6):c.3801+2T>C

SNV
Germline/somatic

Chr2:47806360

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346761204

rs_1558392617

3 SubmittersRCV000758619 RCV001021190 RCV003453549

NM_000249.4(MLH1):c.380+1G>T

SNV
Germline/somatic

Chr3:37004475

Pathogenic/Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA352038068

rs_267607745

4 SubmittersRCV000758639 RCV002352267 RCV005092184 RCV003453550

NM_000249.4(MLH1):c.453+2T>G

SNV
Somatic

Chr3:37007065

Pathogenic

Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA352039458

rs_267607751

2 SubmittersRCV000758640 RCV003453551

NM_000249.4(MLH1):c.589-2A>C

SNV
Somatic

Chr3:37012009

Likely pathogenic

Lynch syndrome

Criteria Provided
Single Submitter

CA352042278

rs_267607767

1 SubmittersRCV000758641

NM_000249.4(MLH1):c.678-1G>A

SNV
Germline/somatic

Chr3:37014431

Pathogenic/Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA352043457

rs_267607784

6 SubmittersRCV000758642 RCV002360870 RCV001724148 RCV003453552

NM_000249.4(MLH1):c.790+5G>A

SNV
Germline/somatic

Chr3:37014549

Pathogenic/Likely pathogenic

Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Muir-Torré syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA645534150

rs_267607771

4 SubmittersRCV000758644 RCV003453553 RCV004027160 RCV005357985

NM_000249.4(MLH1):c.1668-5T>G

SNV
Germline/somatic

Chr3:37042263

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA913189566

rs_1559578408

3 SubmittersRCV000758579 RCV002397526

NM_000249.4(MLH1):c.2104-1G>A

SNV
Germline/somatic

Chr3:37050485

Pathogenic/Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch-like syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA352068712

rs_587778978

4 SubmittersRCV000758582 RCV002422640 RCV001211814 RCV001249940

NM_000251.3(MSH2):c.1677A>C (p.Leu559Phe)

SNV
Germline

Chr2:47470980

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346728061

rs_1558514500

4 SubmittersRCV000759823 RCV000777627 RCV003999907

NM_000179.3(MSH6):c.1255C>T (p.Gln419Ter)

SNV
Germline

Chr2:47799238

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346743880

rs_762814792

3 SubmittersRCV000759842 RCV002422646 RCV003453558

NM_000179.3(MSH6):c.1901T>A (p.Leu634Ter)

SNV
Germline

Chr2:47799884

Pathogenic

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA46709903

rs_63751097

7 SubmittersRCV000759849 RCV001061933 RCV003453560 RCV001805840 RCV003999908

NM_000179.3(MSH6):c.3990A>G (p.Leu1330=)

SNV
Germline

Chr2:47806640

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA426122220

rs_1558394684

5 SubmittersRCV000759148 RCV002222622 RCV001464497 RCV003166012 RCV005427251

NM_000535.7(PMS2):c.375C>A (p.Cys125Ter)

SNV
Germline

Chr7:6002615

Pathogenic/Likely pathogenic

Condition: not provided
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366744474

rs_1562690527

2 SubmittersRCV000759920 RCV003453565

NM_000251.3(MSH2):c.792+2T>G

SNV
Germline

Chr2:47412562

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346732547

rs_587782408

3 SubmittersRCV000759123 RCV002422644 RCV003453556

NM_000251.3(MSH2):c.1277-6T>C

SNV
Germline

Chr2:47445542

Conflicting classifications of pathogenicity

Condition: not provided
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA532338036

rs_1412438412

2 SubmittersRCV000759098 RCV005249034

NM_000251.3(MSH2):c.2005+10C>T

SNV
Germline

Chr2:47475280

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA913189961

rs_1558518671

3 SubmittersRCV000759106 RCV001475104 RCV005249035

NM_000179.3(MSH6):c.3556+3G>A

SNV
Germline

Chr2:47805030

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA913189357

rs_1057521667

5 SubmittersRCV000759143 RCV001203414 RCV003584737 RCV005422956

NM_000535.7(PMS2):c.1144+1G>C

SNV
Germline

Chr7:5989799

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366742716

rs_373885654

5 SubmittersRCV000759912 RCV003303232 RCV001378056 RCV004800569 RCV003453563

NM_022552.5(DNMT3A):c.2525A>G (p.Gln842Arg)

SNV
Germline

Chr2:25235779

Likely pathogenic

Acute myeloid leukemia
Tatton-Brown-Rahman overgrowth syndrome

Criteria Provided
Single Submitter

CA1555542

rs_771174392

1 SubmittersRCV000760250

NM_022552.5(DNMT3A):c.920C>T (p.Pro307Leu)

SNV
Germline

Chr2:25247685

Likely pathogenic

Tatton-Brown-Rahman overgrowth syndrome
Acute myeloid leukemia

Criteria Provided
Single Submitter

CA1556244

rs_759380437

1 SubmittersRCV000760251

NM_000535.7(PMS2):c.730C>T (p.Gln244Ter)

SNV
Germline

Chr7:5997399

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Lynch syndrome 4
Mismatch repair cancer syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366743749

rs_1562671039

8 SubmittersRCV000760335 RCV001026254 RCV001221708 RCV003453566 RCV005411555

NM_015272.5(RPGRIP1L):c.2451C>G (p.Tyr817Ter)

SNV
Germline

Chr16:53645857

Pathogenic/Likely pathogenic

Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3
Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA281339352

rs_145807002

3 SubmittersRCV002485971 RCV000760815 RCV001869036

NM_000251.3(MSH2):c.1156G>A (p.Asp386Asn)

SNV
Germline

Chr2:47429821

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346733690

rs_1419725521

3 SubmittersRCV000761062 RCV001219957 RCV002352272

NM_024426.6(WT1):c.1421A>C (p.His474Pro)

SNV
Germline

Chr11:32391998

Likely pathogenic

Drash syndrome

Criteria Provided
Single Submitter

CA379958765

rs_1564969626

1 SubmittersRCV000761347

NM_001379500.1(COL18A1):c.3809+2T>C

SNV
Germline

Chr21:45511228

Pathogenic

Knobloch syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10068077

rs_113847452

2 SubmittersRCV000761287 RCV001869040

NM_000251.3(MSH2):c.242G>C (p.Ser81Thr)

SNV
Germline

Chr2:47408431

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346729509

rs_1064793491

5 SubmittersRCV000771426 RCV001215145 RCV001772025 RCV003999953

NM_000251.3(MSH2):c.605C>T (p.Pro202Leu)

SNV
Germline

Chr2:47410332

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Colon cancer
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346731077

rs_1060502002

6 SubmittersRCV000777440 RCV000802482 RCV002245663 RCV004569481 RCV004001498

NM_000251.3(MSH2):c.958A>G (p.Thr320Ala)

SNV
Germline

Chr2:47416311

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Breast and/or ovarian cancer
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA041811

rs_368982417

5 SubmittersRCV000771481 RCV001044734 RCV003492163 RCV003999955

NM_000251.3(MSH2):c.1615T>C (p.Phe539Leu)

SNV
Germline

Chr2:47466762

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346727924

rs_1558511106

4 SubmittersRCV000773929 RCV002290018 RCV004001338

NM_000251.3(MSH2):c.2268C>G (p.Thr756=)

SNV
Germline

Chr2:47478329

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA426120149

rs_1404389752

7 SubmittersRCV000776917 RCV001054859 RCV003456428 RCV005249064 RCV005367547

NM_000251.3(MSH2):c.2439G>C (p.Met813Ile)

SNV
Germline

Chr2:47478500

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Malignant tumor of breast
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA46705323

rs_587781678

6 SubmittersRCV000777250 RCV000807280 RCV001175571 RCV001356219 RCV003336181

NM_000179.3(MSH6):c.178T>G (p.Leu60Val)

SNV
Germline

Chr2:47783411

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346735009

rs_35819209

3 SubmittersRCV000774981 RCV004001424

NM_000179.3(MSH6):c.643G>C (p.Val215Leu)

SNV
Germline

Chr2:47798626

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA073290

rs_145959653

5 SubmittersRCV000773188 RCV003148860 RCV003117558 RCV004807139

NM_000179.3(MSH6):c.1097A>G (p.Tyr366Cys)

SNV
Germline

Chr2:47799080

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA346741890

rs_1482767334

4 SubmittersRCV000773039 RCV001175269 RCV001065372

NM_000179.3(MSH6):c.3930G>A (p.Glu1310=)

SNV
Germline

Chr2:47806580

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA426122168

rs_267608129

7 SubmittersRCV000773996 RCV000780474 RCV002067281 RCV003478463 RCV004001341 RCV005422977

NM_000179.3(MSH6):c.*2C>T

SNV
Germline

Chr2:47806862

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA069945

rs_752809310

4 SubmittersRCV000773084 RCV004773129 RCV004807138 RCV005427261

NM_000249.4(MLH1):c.*6G>T

SNV
Germline

Chr3:37050659

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Conflicting Classifications

CA913188142

rs_1559597540

3 SubmittersRCV000777335 RCV004001496 RCV005249070

NM_000535.7(PMS2):c.1068G>A (p.Lys356=)

SNV
Germline

Chr7:5989876

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA153230640

rs_528499793

7 SubmittersRCV000775365 RCV000938343 RCV001086951 RCV005427282 RCV004001449

NM_000535.7(PMS2):c.939T>A (p.Tyr313Ter)

SNV
Germline

Chr7:5992022

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366743155

rs_1562651617

3 SubmittersRCV000776748 RCV003461041

NM_000535.7(PMS2):c.63G>A (p.Lys21=)

SNV
Germline

Chr7:6005992

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA453650331

rs_772643900

5 SubmittersRCV000771503 RCV001775986 RCV001436197 RCV005422957

NM_000251.3(MSH2):c.1077-17A>C

SNV
Germline

Chr2:47429725

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA913187926

rs_1558478062

2 SubmittersRCV000773668 RCV005249047

NM_000251.3(MSH2):c.1662-7T>C

SNV
Germline

Chr2:47470958

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA913187951

rs_1558514428

5 SubmittersRCV000772983 RCV001280559 RCV001800871 RCV001398139 RCV005249044

NM_000179.3(MSH6):c.261-6C>G

SNV
Germline

Chr2:47790921

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA913187984

rs_1558651835

4 SubmittersRCV000772888 RCV001789783 RCV002067257

NM_000249.4(MLH1):c.1990-1G>C

SNV
Germline

Chr3:37048903

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA352067555

rs_267607884

5 SubmittersRCV000772614 RCV001036557 RCV001310199 RCV002477757

NM_000535.7(PMS2):c.353+7C>T

SNV
Germline

Chr7:6003683

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA913188251

rs_1057520512

4 SubmittersRCV000772826 RCV001398097 RCV003478459 RCV005427258

NM_000535.7(PMS2):c.804-4A>C

SNV
Germline

Chr7:5995637

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA840185458

rs_1475598645

4 SubmittersRCV000772967 RCV002534046 RCV005422967

NM_014159.7(SETD2):c.4997A>G (p.Tyr1666Cys)

SNV
Germline

Chr3:47101476

Pathogenic/Likely pathogenic

Luscan-Lumish syndrome
Genetic syndrome with a Dandy-Walker malformation as major feature
Ventriculomegaly
Dandy-Walker syndrome

No Assertion Criteria Provided

CA352513058

rs_1559720382

2 SubmittersRCV000779642 RCV001258008

NM_000251.3(MSH2):c.1819A>G (p.Ser607Gly)

SNV
Germline

Chr2:47475084

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA031564

rs_772991620

5 SubmittersRCV000780460 RCV002406710 RCV002535673 RCV003461053

NM_000179.3(MSH6):c.3567A>G (p.Thr1189=)

SNV
Germline

Chr2:47805628

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided

Criteria Provided
Conflicting Classifications

CA071398

rs_754959739

5 SubmittersRCV000781583 RCV002334458 RCV005423008 RCV001873192 RCV004997310

NM_000249.4(MLH1):c.1706C>T (p.Ala569Val)

SNV
Germline

Chr3:37042306

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA352062045

rs_1559578814

7 SubmittersRCV000780416 RCV000985778 RCV001066113 RCV001182842 RCV003467309 RCV004001518

NM_000377.3(WAS):c.257G>C (p.Arg86Pro)

SNV
Germline

ChrX:48684407

Likely pathogenic

Wiskott-Aldrich syndrome

Criteria Provided
Single Submitter

CA412866623

rs_132630268

1 SubmittersRCV000780795

NM_003172.4(SURF1):c.516-2A>G

SNV
Germline

Chr9:133352768

Pathogenic

not specified
Leigh syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA200832536

rs_782682492

4 SubmittersRCV000780770 RCV001242611 RCV001726326

NM_000251.3(MSH2):c.2083G>A (p.Val695Met)

SNV
Germline

Chr2:47476444

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Muir-Torré syndrome
Mismatch repair cancer syndrome 2

Reviewed By Expert Panel

CA346729205

rs_772491283

5 SubmittersRCV000781997 RCV001014369 RCV004789180 RCV005092336 RCV005359523

NM_000179.3(MSH6):c.1252T>C (p.Ser418Pro)

SNV
Germline

Chr2:47799235

Likely pathogenic

Lynch syndrome

Reviewed By Expert Panel

CA346743849

rs_1251033858

1 SubmittersRCV000781998

NM_000179.3(MSH6):c.1439T>A (p.Val480Glu)

SNV
Germline

Chr2:47799422

Pathogenic

Lynch syndrome

Reviewed By Expert Panel

CA346745598

rs_1244531716

1 SubmittersRCV000781993

NM_000249.4(MLH1):c.543C>G (p.Gly181=)

SNV
Germline

Chr3:37008903

Likely pathogenic

Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA433067579

rs_1481129490

2 SubmittersRCV000781999 RCV003453614

NM_000249.4(MLH1):c.543C>T (p.Gly181=)

SNV
Germline

Chr3:37008903

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA433067580

rs_1481129490

4 SubmittersRCV000782000 RCV001024107 RCV003453615

NM_001378615.1(CC2D2A):c.2561G>A (p.Trp854Ter)

SNV
Germline

Chr4:15555146

Pathogenic/Likely pathogenic

Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
Retinitis pigmentosa 93
COACH syndrome 2
Meckel syndrome, type 6
Joubert syndrome 9

Criteria Provided
Multiple Submitters
No Conflicts

CA356420587

rs_1560180188

3 SubmittersRCV000785072 RCV001869170 RCV005029441

NM_003172.4(SURF1):c.504C>A (p.Cys168Ter)

SNV
Germline

Chr9:133353760

Likely pathogenic

Leigh syndrome

Criteria Provided
Single Submitter

CA375694143

rs_1564349087

1 SubmittersRCV000785948

NM_000321.3(RB1):c.273T>A (p.Tyr91Ter)

SNV
Germline

Chr13:48342607

Likely pathogenic

Lynch syndrome 4

No Assertion Criteria Provided

CA388252324

rs_750136284

1 SubmittersRCV000786881

NM_000535.7(PMS2):c.451C>G (p.Arg151Gly)

SNV
Germline

Chr7:6002539

Conflicting classifications of pathogenicity

Lynch syndrome 4
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA366744323

rs_758561884

4 SubmittersRCV003467323 RCV001022626 RCV000993767 RCV002535819

NM_000377.3(WAS):c.735-2A>G

SNV
Germline

ChrX:48688052

Pathogenic

Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia
Wiskott-Aldrich syndrome
Thrombocytopenia 1

Criteria Provided
Single Submitter

CA412872029

rs_1602178800

2 SubmittersRCV000791261 RCV005213406

NM_000179.3(MSH6):c.619G>T (p.Glu207Ter)

SNV
Germline

Chr2:47796055

Likely pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

CA346738899

rs_1322095633

1 SubmittersRCV000791336

NM_022552.5(DNMT3A):c.2495C>T (p.Thr832Ile)

SNV
Germline

Chr2:25235809

Likely pathogenic

Tatton-Brown-Rahman overgrowth syndrome

Criteria Provided
Single Submitter

CA346068830

rs_1573297136

1 SubmittersRCV000803514

NM_022552.5(DNMT3A):c.2385G>A (p.Trp795Ter)

SNV
Germline

Chr2:25239153

Pathogenic

Tatton-Brown-Rahman overgrowth syndrome

Criteria Provided
Single Submitter

CA346069463

rs_1395575712

1 SubmittersRCV000812887

NM_022552.5(DNMT3A):c.2309C>T (p.Ser770Leu)

SNV
Germline

Chr2:25240315

Pathogenic

Tatton-Brown-Rahman overgrowth syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA1555660

rs_758845779

3 SubmittersRCV000798433 RCV001585724

NM_022552.5(DNMT3A):c.2063G>A (p.Arg688His)

SNV
Germline

Chr2:25241581

Conflicting classifications of pathogenicity

Tatton-Brown-Rahman overgrowth syndrome
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1555781

rs_369713081

3 SubmittersRCV000805932 RCV001267190 RCV001567102

NM_000251.3(MSH2):c.18G>C (p.Lys6Asn)

SNV
Germline

Chr2:47403209

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA46666424

rs_146017810

3 SubmittersRCV000809070 RCV004001707 RCV003307495

NM_000251.3(MSH2):c.56T>C (p.Phe19Ser)

SNV
Germline

Chr2:47403247

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA346728591

rs_1320061495

5 SubmittersRCV000805682 RCV001024434 RCV002291700 RCV004761795

NM_000251.3(MSH2):c.198C>A (p.Tyr66Ter)

SNV
Germline/somatic

Chr2:47403389

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch-like syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1
Lynch syndrome 1
Mismatch repair cancer syndrome 2
Muir-Torré syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA346729043

rs_730881784

6 SubmittersRCV000799705 RCV001250031 RCV001013932 RCV005623369 RCV003453663 RCV005367566

NM_000251.3(MSH2):c.242G>A (p.Ser81Asn)

SNV
Germline

Chr2:47408431

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Mismatch repair cancer syndrome 2

Criteria Provided
Conflicting Classifications

CA346729508

rs_1064793491

3 SubmittersRCV000824404 RCV002453906 RCV003483745

NM_000251.3(MSH2):c.250A>T (p.Asn84Tyr)

SNV
Germline

Chr2:47408439

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346729528

rs_1573436418

4 SubmittersRCV000820762 RCV003307549 RCV004723243 RCV004569757

NM_000251.3(MSH2):c.713A>T (p.Tyr238Phe)

SNV
Germline

Chr2:47412481

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346732076

rs_1553351618

3 SubmittersRCV000793508 RCV004569519 RCV005443153

NM_000251.3(MSH2):c.832G>T (p.Glu278Ter)

SNV
Germline

Chr2:47414308

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346732804

rs_1558464008

4 SubmittersRCV000794209 RCV001811486 RCV001017577 RCV003453641

NM_000251.3(MSH2):c.998G>T (p.Cys333Phe)

SNV
Germline

Chr2:47416351

Pathogenic/Likely pathogenic

Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA346733123

rs_63750828

4 SubmittersRCV002249499 RCV002386370 RCV000791505

NM_000251.3(MSH2):c.1294T>A (p.Leu432Met)

SNV
Germline

Chr2:47445565

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346724524

rs_937218360

5 SubmittersRCV000821073 RCV001010808 RCV002268314 RCV003328634 RCV004569758

NM_000251.3(MSH2):c.1939G>T (p.Glu647Ter)

SNV
Germline

Chr2:47475204

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA46700508

rs_63750078

3 SubmittersRCV000822443 RCV003453729 RCV003584767

NM_000251.3(MSH2):c.2043A>C (p.Gln681His)

SNV
Germline

Chr2:47476404

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA033402

rs_730881763

4 SubmittersRCV000814388 RCV003324799 RCV002422813 RCV004001761

NM_000251.3(MSH2):c.2063T>C (p.Met688Thr)

SNV
Germline

Chr2:47476424

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346729169

rs_63749993

4 SubmittersRCV000823002 RCV002415942 RCV003467514 RCV004002849

NM_000251.3(MSH2):c.2307C>G (p.Tyr769Ter)

SNV
Germline

Chr2:47478368

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346729871

rs_1573574086

3 SubmittersRCV000820262 RCV002427049 RCV003453724

NM_000251.3(MSH2):c.2380A>C (p.Ile794Leu)

SNV
Germline

Chr2:47478441

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA346730100

rs_1553369778

5 SubmittersRCV000816114 RCV003166350 RCV004807202 RCV004997375

NM_000251.3(MSH2):c.2401C>T (p.His801Tyr)

SNV
Germline

Chr2:47478462

Conflicting classifications of pathogenicity

Malignant tumor of breast
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346730189

rs_1573574512

4 SubmittersRCV001354587 RCV000822968 RCV003169045 RCV004807207

NM_000251.3(MSH2):c.2626G>T (p.Glu876Ter)

SNV
Germline

Chr2:47480863

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA501122

rs_1573579206

4 SubmittersRCV000798885 RCV002424839 RCV003453655

NM_000179.3(MSH6):c.463A>T (p.Lys155Ter)

SNV
Germline

Chr2:47795899

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346738566

rs_1276159036

2 SubmittersRCV000808014 RCV004028636

NM_000179.3(MSH6):c.942C>A (p.Ser314Arg)

SNV
Germline

Chr2:47798925

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA346740781

rs_150440246

2 SubmittersRCV000804626 RCV005423019

NM_000179.3(MSH6):c.1281C>G (p.Tyr427Ter)

SNV
Germline

Chr2:47799264

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346744122

rs_1553412720

2 SubmittersRCV000815858 RCV003453715

NM_000179.3(MSH6):c.2039C>T (p.Ala680Val)

SNV
Germline

Chr2:47800022

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346750742

rs_1558664035

4 SubmittersRCV000807134 RCV001014157 RCV004807190

NM_000179.3(MSH6):c.2282G>C (p.Arg761Thr)

SNV
Germline

Chr2:47800265

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome 5
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA068739

rs_587779233

6 SubmittersRCV000793348 RCV001193700 RCV001257482 RCV003314645 RCV001190571

NM_000179.3(MSH6):c.2295C>A (p.Cys765Ter)

SNV
Germline

Chr2:47800278

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Condition: not provided
Endometrial carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA346752979

rs_63750985

6 SubmittersRCV000806058 RCV001184647 RCV003453682 RCV003489898 RCV004569629

NM_000179.3(MSH6):c.2426T>C (p.Val809Ala)

SNV
Germline

Chr2:47800409

Conflicting classifications of pathogenicity

Lynch syndrome 5
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA069038

rs_775815297

4 SubmittersRCV001257480 RCV002453838 RCV000812013

NM_000179.3(MSH6):c.2982C>G (p.Tyr994Ter)

SNV
Germline

Chr2:47800965

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346756362

rs_367758473

3 SubmittersRCV000803777 RCV002440701 RCV003453677

NM_000179.3(MSH6):c.3021G>A (p.Trp1007Ter)

SNV
Germline

Chr2:47801004

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Endometrial carcinoma
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346756440

rs_587779253

4 SubmittersRCV000811578 RCV002440757 RCV004569673 RCV003453698

NM_000179.3(MSH6):c.3793G>T (p.Gly1265Ter)

SNV
Germline

Chr2:47806350

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346761183

rs_754469538

3 SubmittersRCV000806883 RCV002352387 RCV003453684

NM_000179.3(MSH6):c.3940C>G (p.Gln1314Glu)

SNV
Germline

Chr2:47806590

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346761500

rs_1416452389

4 SubmittersRCV000802917 RCV001021479 RCV002271587 RCV004001655

NM_000249.4(MLH1):c.1989G>C (p.Glu663Asp)

SNV
Germline

Chr3:37048609

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA352065997

rs_63751662

3 SubmittersRCV000791765 RCV002422677 RCV004001556

NM_014159.7(SETD2):c.2032G>A (p.Gly678Arg)

SNV
Germline

Chr3:47122604

Conflicting classifications of pathogenicity

Luscan-Lumish syndrome
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2363595

rs_145499611

3 SubmittersRCV000809229 RCV004958130 RCV003489900

NM_014159.7(SETD2):c.1580T>C (p.Ile527Thr)

SNV
Germline

Chr3:47123056

Conflicting classifications of pathogenicity

Luscan-Lumish syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2363668

rs_769791652

2 SubmittersRCV000816979 RCV002534913

NM_000535.7(PMS2):c.2534A>G (p.His845Arg)

SNV
Germline

Chr7:5973454

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA366734848

rs_1554292741

4 SubmittersRCV000819801 RCV002427044 RCV003315255 RCV003453723

NM_000535.7(PMS2):c.1708A>C (p.Asn570His)

SNV
Germline

Chr7:5987057

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA366741113

rs_115670442

4 SubmittersRCV000823449 RCV001012759 RCV004002854

NM_000535.7(PMS2):c.1306A>G (p.Ser436Gly)

SNV
Germline

Chr7:5987459

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA366742370

rs_1583321782

5 SubmittersRCV000810873 RCV004807194 RCV002381802 RCV001193856

NM_000535.7(PMS2):c.478C>T (p.Gln160Ter)

SNV
Germline

Chr7:6002512

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA366744275

rs_36038802

4 SubmittersRCV000814188 RCV003453711 RCV002332681

NM_000535.7(PMS2):c.364A>G (p.Ile122Val)

SNV
Germline

Chr7:6002626

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA049575

rs_761748894

4 SubmittersRCV000806193 RCV002345813 RCV004807189 RCV004569630

NM_024426.6(WT1):c.1562C>T (p.Ala521Val)

SNV
Germline

Chr11:32389065

Conflicting classifications of pathogenicity

Frasier syndrome
Drash syndrome
Wilms tumor 1
11p partial monosomy syndrome
Condition: not provided
8 conditions
Inborn genetic diseases
Wilms tumor 1

Criteria Provided
Conflicting Classifications

CA064680

rs_749266841

5 SubmittersRCV000824506 RCV003235415 RCV002507448 RCV004962868 RCV004002865

NM_024426.6(WT1):c.1499G>A (p.Arg500Gln)

SNV
Germline

Chr11:32389128

Pathogenic

Wilms tumor 1
11p partial monosomy syndrome
Drash syndrome
Frasier syndrome
Drash syndrome
Nephrotic syndrome, type 4

Criteria Provided
Multiple Submitters
No Conflicts

CA379957654

rs_1590326226

3 SubmittersRCV000822133 RCV003446461 RCV004594121

NM_024426.6(WT1):c.1150G>A (p.Val384Ile)

SNV
Germline

Chr11:32396371

Conflicting classifications of pathogenicity

Frasier syndrome
Drash syndrome
Wilms tumor 1
11p partial monosomy syndrome
8 conditions
Drash syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA219476893

rs_977244044

4 SubmittersRCV000816906 RCV002501124 RCV003461244 RCV005512829

NM_024426.6(WT1):c.1104A>T (p.Arg368Ser)

SNV
Germline

Chr11:32399957

Conflicting classifications of pathogenicity

Drash syndrome
Wilms tumor 1
11p partial monosomy syndrome
Frasier syndrome
WT1-related disorder
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA064148

rs_544966826

4 SubmittersRCV000791867 RCV004549864 RCV004965732 RCV001358073

NM_024426.6(WT1):c.882C>A (p.Tyr294Ter)

SNV
Germline

Chr11:32427961

Pathogenic

Drash syndrome
Frasier syndrome
Wilms tumor 1
11p partial monosomy syndrome

Criteria Provided
Single Submitter

CA379962798

rs_1554945031

1 SubmittersRCV000799020

NM_024426.6(WT1):c.854G>A (p.Ser285Asn)

SNV
Germline

Chr11:32427989

Conflicting classifications of pathogenicity

Drash syndrome
Frasier syndrome
Wilms tumor 1
11p partial monosomy syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA065720

rs_779813097

2 SubmittersRCV000813360 RCV004678841

NM_024426.6(WT1):c.196G>A (p.Ala66Thr)

SNV
Germline

Chr11:32435165

Conflicting classifications of pathogenicity

Drash syndrome
Frasier syndrome
Wilms tumor 1
11p partial monosomy syndrome
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA379966185

rs_1590410967

3 SubmittersRCV000795717 RCV003238221 RCV005306150

NM_024426.6(WT1):c.193G>T (p.Gly65Trp)

SNV
Germline

Chr11:32435168

Conflicting classifications of pathogenicity

Drash syndrome
Frasier syndrome
Wilms tumor 1
11p partial monosomy syndrome
Condition: not provided
Drash syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA379966190

rs_374404615

4 SubmittersRCV000801214 RCV004723205 RCV003461126 RCV005298616

NM_024426.6(WT1):c.29C>T (p.Ala10Val)

SNV
Germline

Chr11:32435332

Conflicting classifications of pathogenicity

Frasier syndrome
Wilms tumor 1
11p partial monosomy syndrome
Drash syndrome
6 conditions
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA219511534

rs_997104313

4 SubmittersRCV000807502 RCV005049701 RCV005231362 RCV005298620

NM_015272.5(RPGRIP1L):c.196C>T (p.Gln66Ter)

SNV
Germline

Chr16:53696185

Pathogenic/Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome and related disorders
Condition: not provided
RPGRIP1L-related disorder
Joubert syndrome 7
Meckel syndrome, type 5
COACH syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA395925850

rs_751444506

5 SubmittersRCV000793385 RCV002282368 RCV002263980 RCV004733043 RCV005021195

NM_000540.3(RYR1):c.2984G>A (p.Trp995Ter)

SNV
Germline

Chr19:38466204

Pathogenic/Likely pathogenic

RYR1-related disorder
Condition: not provided
Central core myopathy
King Denborough syndrome
Congenital myopathy with fiber type disproportion
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA405634883

rs_1440262870

5 SubmittersRCV000811818 RCV003141824 RCV002495127 RCV004001735

NM_000377.3(WAS):c.266G>A (p.Gly89Asp)

SNV
Germline

ChrX:48684416

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia
Thrombocytopenia 1

Criteria Provided
Conflicting Classifications

CA10403875

rs_139857045

3 SubmittersRCV003480857 RCV004782561 RCV000812382

NM_000377.3(WAS):c.355G>T (p.Gly119Ter)

SNV
Germline

ChrX:48685628

Pathogenic

X-linked severe congenital neutropenia
Thrombocytopenia 1
Wiskott-Aldrich syndrome

Criteria Provided
Single Submitter

CA412867255

rs_1602177243

1 SubmittersRCV000818272

NM_000377.3(WAS):c.631C>T (p.Arg211Ter)

SNV
Germline

ChrX:48686852

Pathogenic

Thrombocytopenia 1
Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA412870494

rs_1602178165

2 SubmittersRCV000802424 RCV002067393

NM_022552.5(DNMT3A):c.639+6G>C

SNV
Germline

Chr2:25274935

Conflicting classifications of pathogenicity

Tatton-Brown-Rahman overgrowth syndrome
Condition: not provided
DNMT3A-related disorder

Criteria Provided
Conflicting Classifications

CA1556420

rs_559534512

3 SubmittersRCV000819867 RCV001776038 RCV003928284

NM_000179.3(MSH6):c.458-1G>T

SNV
Germline

Chr2:47795893

Likely pathogenic

Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA346738554

rs_267608035

2 SubmittersRCV003453672 RCV000803405

NM_000179.3(MSH6):c.3556+1G>T

SNV
Germline

Chr2:47805028

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Condition: not provided
Lynch syndrome 5
Gastric cancer
MSH6-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA346760281

rs_1060502926

6 SubmittersRCV000800963 RCV000826201 RCV001574493 RCV003453666 RCV003166197 RCV004723203

NM_000251.3(MSH2):c.1276+5C>G

SNV
Germline

Chr2:47429946

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA027587

rs_755284496

3 SubmittersRCV000812111 RCV002370187 RCV005249091

NM_000179.3(MSH6):c.627+1G>A

SNV
Germline

Chr2:47796064

Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA346738919

rs_1572716545

3 SubmittersRCV000798211 RCV003453653 RCV005367564

NM_000249.4(MLH1):c.380+5A>G

SNV
Germline

Chr3:37004479

Conflicting classifications of pathogenicity

Malignant tumor of breast
Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Conflicting Classifications

CA906764126

rs_1267759029

5 SubmittersRCV001356888 RCV004807171 RCV003344041 RCV000791483 RCV005249076

NM_001378615.1(CC2D2A):c.2625+1G>A

SNV
Germline

Chr4:15555211

Pathogenic/Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Retinitis pigmentosa 93
COACH syndrome 2
Meckel syndrome, type 6
Joubert syndrome 9

Criteria Provided
Multiple Submitters
No Conflicts

CA356420893

rs_1577372471

2 SubmittersRCV000798242 RCV005036152

NM_000535.7(PMS2):c.2275+1G>C

SNV
Germline

Chr7:5978595

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA366736385

rs_1554294393

5 SubmittersRCV000823059 RCV003453733 RCV002442765

NM_018344.6(SLC29A3):c.611-1G>T

SNV
Germline

Chr10:71356080

Likely pathogenic

H syndrome

Criteria Provided
Single Submitter

CA5542994

rs_139857136

1 SubmittersRCV000816718

NM_024426.6(WT1):c.965+1G>A

SNV
Germline

Chr11:32417576

Conflicting classifications of pathogenicity

Frasier syndrome
Drash syndrome
Wilms tumor 1
11p partial monosomy syndrome
Condition: not provided
Wilms tumor 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA065917

rs_771527206

4 SubmittersRCV000819469 RCV001784448 RCV004001822 RCV005520356

NM_024426.6(WT1):c.784+6C>T

SNV
Germline

Chr11:32428491

Conflicting classifications of pathogenicity

Wilms tumor 1
11p partial monosomy syndrome
Drash syndrome
Frasier syndrome
not specified
6 conditions

Criteria Provided
Conflicting Classifications

CA598396165

rs_1455790542

3 SubmittersRCV000819616 RCV002249530 RCV005047112

NM_001079866.2(BCS1L):c.1000G>A (p.Val334Ile)

SNV
Germline

Chr2:218662993

Conflicting classifications of pathogenicity

not specified
Condition: not provided
GRACILE syndrome
Mitochondrial complex III deficiency nuclear type 1
Leigh syndrome

Criteria Provided
Conflicting Classifications

CA2109810

rs_146731467

5 SubmittersRCV000825116 RCV000885856 RCV001140960 RCV001140961 RCV001140962

NM_000179.3(MSH6):c.24C>G (p.Tyr8Ter)

SNV
Germline

Chr2:47783257

Pathogenic/Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346734503

rs_746306598

4 SubmittersRCV000825599 RCV002427080 RCV002536057 RCV003453747

NM_000179.3(MSH6):c.3952A>T (p.Arg1318Ter)

SNV
Germline

Chr2:47806602

Pathogenic/Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA346761526

rs_1572747685

4 SubmittersRCV000826178 RCV002352477 RCV003453759 RCV003594042

NM_001379500.1(COL18A1):c.3241C>T (p.Arg1081Ter)

SNV
Germline

Chr21:45507585

Pathogenic/Likely pathogenic

Knobloch syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10067799

rs_771752014

2 SubmittersRCV000825517 RCV001869266

NM_000249.4(MLH1):c.885-12T>C

SNV
Germline

Chr3:37020298

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Conflicting Classifications

CA915942344

rs_1575508554

5 SubmittersRCV000827271 RCV002442771 RCV003758939 RCV004807211 RCV005249098

NM_000535.7(PMS2):c.164-11A>T

SNV
Germline

Chr7:6004069

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA044838

rs_763662038

5 SubmittersRCV000841657 RCV001192086 RCV002067539 RCV005423034

NC_012920.1(MT-ATP6):m.9035T>C

SNV
Germline

ChrMT:9035

Likely pathogenic

Progressive cerebellar ataxia
Leigh syndrome
See cases
MT-ATP6-related primary mitochondrial disease
Leber optic atrophy
Mitochondrial disease
NARP syndrome

Reviewed By Expert Panel

CA414801955

rs_1603222000

10 SubmittersRCV000851177 RCV000854406 RCV001196557 RCV002466594 RCV002249546 RCV002260672 RCV004768714

NM_001378615.1(CC2D2A):c.4555T>G (p.Trp1519Gly)

SNV
Germline

Chr4:15599587

Likely pathogenic

Meckel syndrome, type 6
Meckel syndrome, type 6
COACH syndrome 2
Joubert syndrome 9
Retinitis pigmentosa 93

Criteria Provided
Multiple Submitters
No Conflicts

CA356433914

rs_1577406415

2 SubmittersRCV001000096 RCV005036236

NC_012920.1(MT-ND5):m.13112T>C

SNV
Germline

ChrMT:13112

Conflicting classifications of pathogenicity

Leigh syndrome

Criteria Provided
Conflicting Classifications

CA414816577

rs_1603224043

2 SubmittersRCV000854896

NC_012920.1(MT-CYB):m.14924T>C

SNV
Germline

ChrMT:14924

Conflicting classifications of pathogenicity

Leigh syndrome
not specified

Criteria Provided
Conflicting Classifications

CA913172462

rs_1603224966

2 SubmittersRCV000855184 RCV005436185

NC_012920.1(MT-ND1):m.3565A>G

SNV
Germline

ChrMT:3565

Conflicting classifications of pathogenicity

Leigh syndrome
Intellectual disability

Criteria Provided
Conflicting Classifications

CA337096593

rs_2854133

2 SubmittersRCV000853677 RCV005626236

NC_012920.1(MT-CO1):m.6526T>C

SNV
Germline

ChrMT:6526

Likely pathogenic

Leigh syndrome

Criteria Provided
Single Submitter

CA414784550

rs_1603220522

1 SubmittersRCV000853981

NC_012920.1(MT-ATP6):m.8609C>T

SNV
Germline

ChrMT:8609

Conflicting classifications of pathogenicity

Leigh syndrome
not specified

Criteria Provided
Conflicting Classifications

CA414796911

rs_1603221634

2 SubmittersRCV000854258 RCV005436137

NC_012920.1(MT-ATP6):m.9049G>A

SNV
Germline

ChrMT:9049

Likely pathogenic

Leigh syndrome
Progressive spastic paraparesis
Cerebellar ataxia
Abnormal basal ganglia MRI signal intensity
Gonadal dysgenesis

Criteria Provided
Multiple Submitters
No Conflicts

CA414802017

rs_1603222011

2 SubmittersRCV000854410 RCV000993792

NC_012920.1(MT-ATP6):m.9134A>G

SNV
Germline

ChrMT:9134

Likely pathogenic

Leigh syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA414802276

rs_1603222119

2 SubmittersRCV000854453 RCV004697014

NM_000179.3(MSH6):c.2842G>T (p.Glu948Ter)

SNV
Germline

Chr2:47800825

Pathogenic

Lynch syndrome 5
Hereditary cancer-predisposing syndrome

Criteria Provided
Single Submitter

CA346755807

rs_1572728898

2 SubmittersRCV000856619 RCV002434052

NM_000179.3(MSH6):c.3804A>G (p.Ala1268=)

SNV
Germline

Chr2:47806454

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome 5
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA426122103

rs_1572746044

6 SubmittersRCV000862856 RCV001021193 RCV001193727 RCV005423040 RCV004002921

NM_000251.3(MSH2):c.1635G>A (p.Gln545=)

SNV
Germline

Chr2:47466782

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA425965626

rs_1558511163

4 SubmittersRCV000866579 RCV002390773 RCV005249163 RCV005359627

NM_024426.6(WT1):c.1434T>C (p.His478=)

SNV
Germline

Chr11:32391985

Conflicting classifications of pathogenicity

Wilms tumor 1
11p partial monosomy syndrome
Drash syndrome
Frasier syndrome
Wilms tumor 1
WT1-related disorder
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA064550

rs_761414130

5 SubmittersRCV000866573 RCV004002981 RCV004740469 RCV004962884 RCV004768725

NM_024426.6(WT1):c.996A>G (p.Lys332=)

SNV
Germline

Chr11:32416510

Conflicting classifications of pathogenicity

Wilms tumor 1
11p partial monosomy syndrome
Drash syndrome
Frasier syndrome
Inborn genetic diseases
Condition: not provided
Wilms tumor 1

Criteria Provided
Conflicting Classifications

CA066000

rs_758410591

4 SubmittersRCV001434871 RCV005298636 RCV004777907 RCV004002972

NM_000377.3(WAS):c.1181C>T (p.Pro394Leu)

SNV
Germline

ChrX:48688909

Conflicting classifications of pathogenicity

Thrombocytopenia 1
Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia
not specified

Criteria Provided
Conflicting Classifications

CA10404044

rs_373524969

3 SubmittersRCV000865882 RCV001816974

NM_000540.3(RYR1):c.46-4G>A

SNV
Germline

Chr19:38440741

Conflicting classifications of pathogenicity

RYR1-related disorder
King Denborough syndrome
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Congenital myopathy with fiber type disproportion
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA066333

rs_201094741

4 SubmittersRCV000867181 RCV002487901 RCV004002997

NM_000535.7(PMS2):c.33T>A (p.Pro11=)

SNV
Germline

Chr7:6006022

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Lynch syndrome 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA049240

rs_780178572

8 SubmittersRCV000871219 RCV001020203 RCV004807218 RCV005423058 RCV003478548

NM_003172.4(SURF1):c.321C>T (p.Ala107=)

SNV
Germline

Chr9:133354661

Conflicting classifications of pathogenicity

Leigh syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA200833334

rs_141425824

3 SubmittersRCV000874503 RCV001593100

NM_024426.6(WT1):c.1008G>A (p.Gly336=)

SNV
Germline

Chr11:32416498

Conflicting classifications of pathogenicity

Frasier syndrome
Wilms tumor 1
11p partial monosomy syndrome
Drash syndrome
Condition: not provided
Wilms tumor 1

Criteria Provided
Conflicting Classifications

CA473568259

rs_1369099437

3 SubmittersRCV000873532 RCV003325526 RCV004003088

NM_006941.4(SOX10):c.274G>C (p.Val92Leu)

SNV
Germline

Chr22:37983511

Conflicting classifications of pathogenicity

Condition: not provided
Hearing impairment
Waardenburg syndrome
PCWH syndrome
SOX10-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA10228700

rs_142113652

8 SubmittersRCV000871484 RCV001375097 RCV001146313 RCV001146314 RCV004540232 RCV005432470

NM_014159.7(SETD2):c.5829C>G (p.Asn1943Lys)

SNV
Germline

Chr3:47083951

Conflicting classifications of pathogenicity

Luscan-Lumish syndrome

Criteria Provided
Conflicting Classifications

CA2362844

rs_369421455

2 SubmittersRCV000945778

NM_001379500.1(COL18A1):c.1905C>T (p.Pro635=)

SNV
Germline

Chr21:45488426

Conflicting classifications of pathogenicity

Condition: not provided
Knobloch syndrome

Criteria Provided
Conflicting Classifications

CA10066651

rs_199523495

3 SubmittersRCV000949107 RCV001141916

NM_004168.4(SDHA):c.1977A>G (p.Pro659=)

SNV
Germline

Chr5:256402

Conflicting classifications of pathogenicity

Mitochondrial complex II deficiency, nuclear type 1
Pheochromocytoma/paraganglioma syndrome 5
Hereditary cancer-predisposing syndrome
Hereditary pheochromocytoma-paraganglioma
Leigh syndrome
Mitochondrial complex II deficiency, nuclear type 1
Pheochromocytoma/paraganglioma syndrome 5

Criteria Provided
Conflicting Classifications

CA3173478

rs_768693502

4 SubmittersRCV000887554 RCV001013815 RCV001158014 RCV001158015 RCV001158016 RCV005427357

NM_000535.7(PMS2):c.2505G>T (p.Gly835=)

SNV
Germline

Chr7:5973483

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA453642087

rs_1583269666

4 SubmittersRCV000892403 RCV002427247 RCV005423081

NM_018344.6(SLC29A3):c.987C>T (p.Asn329=)

SNV
Germline

Chr10:71362167

Conflicting classifications of pathogenicity

H syndrome
Condition: not provided
SLC29A3-related disorder

Criteria Provided
Conflicting Classifications

CA5543101

rs_147814367

4 SubmittersRCV000880516 RCV003456454 RCV003930515

NM_078470.6(COX15):c.664C>T (p.Arg222Cys)

SNV
Germline

Chr10:99724042

Conflicting classifications of pathogenicity

Condition: not provided
Leigh syndrome
COX15-related disorder

Criteria Provided
Conflicting Classifications

CA5642212

rs_2231682

4 SubmittersRCV000898890 RCV001108828 RCV003950526

NM_024426.6(WT1):c.402G>A (p.Pro134=)

SNV
Germline

Chr11:32434959

Conflicting classifications of pathogenicity

Nephrotic syndrome, type 4
Drash syndrome
Wilms tumor 1
11p partial monosomy syndrome
Frasier syndrome
Meacham syndrome
Wilms tumor 1
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA064893

rs_777527675

4 SubmittersRCV001104629 RCV000894878 RCV001107374 RCV001104628 RCV003117641 RCV004962916

NM_007103.4(NDUFV1):c.597C>T (p.Arg199=)

SNV
Germline

Chr11:67610467

Conflicting classifications of pathogenicity

Mitochondrial complex I deficiency, nuclear type 1
Condition: not provided
Leigh syndrome

Criteria Provided
Conflicting Classifications

CA6143223

rs_151104852

3 SubmittersRCV001103034 RCV000898339 RCV001103033

NM_004589.4(SCO1):c.579G>T (p.Leu193=)

SNV
Germline

Chr17:10691948

Conflicting classifications of pathogenicity

Condition: not provided
Mitochondrial complex IV deficiency, nuclear type 1
Leigh syndrome
SCO1-related disorder

Criteria Provided
Conflicting Classifications

CA8393553

rs_376145746

3 SubmittersRCV000906371 RCV001124445 RCV001124446 RCV004531046

NM_001303.4(COX10):c.260C>T (p.Thr87Ile)

SNV
Germline

Chr17:14076817

Conflicting classifications of pathogenicity

Leigh syndrome
Condition: not provided
Mitochondrial complex IV deficiency, nuclear type 1

Criteria Provided
Conflicting Classifications

CA8402283

rs_144000161

4 SubmittersRCV001127733 RCV000899247 RCV001127734

NM_006941.4(SOX10):c.918C>T (p.His306=)

SNV
Germline

Chr22:37973978

Conflicting classifications of pathogenicity

Condition: not provided
Waardenburg syndrome
PCWH syndrome

Criteria Provided
Conflicting Classifications

CA10228567

rs_200226880

2 SubmittersRCV000908897 RCV001150502 RCV001150503

NM_001378615.1(CC2D2A):c.2182-9G>A

SNV
Germline

Chr4:15550815

Conflicting classifications of pathogenicity

Condition: not provided
COACH syndrome 2
Retinitis pigmentosa 93
Meckel syndrome, type 6
Joubert syndrome 9

Criteria Provided
Conflicting Classifications

CA2863861

rs_376312792

3 SubmittersRCV000896097 RCV005029526

NM_000251.3(MSH2):c.2553T>G (p.Leu851=)

SNV
Germline

Chr2:47480790

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA1649292

rs_1553370386

5 SubmittersRCV000917330 RCV001015910 RCV001142094

NM_000179.3(MSH6):c.2067C>T (p.Phe689=)

SNV
Germline

Chr2:47800050

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA426121398

rs_1572725594

4 SubmittersRCV000921162 RCV001284180 RCV005367628 RCV005427372

NM_002495.4(NDUFS4):c.360C>G (p.Pro120=)

SNV
Germline

Chr5:53658560

Conflicting classifications of pathogenicity

Condition: not provided
Mitochondrial complex I deficiency, nuclear type 1
Leigh syndrome

Criteria Provided
Conflicting Classifications

CA3264294

rs_368876333

2 SubmittersRCV000911644 RCV001154689 RCV001154690

NM_018344.6(SLC29A3):c.804T>C (p.His268=)

SNV
Germline

Chr10:71361984

Conflicting classifications of pathogenicity

H syndrome

Criteria Provided
Conflicting Classifications

CA209387713

rs_896755457

2 SubmittersRCV001102753

NM_007103.4(NDUFV1):c.432G>T (p.Val144=)

SNV
Germline

Chr11:67609557

Conflicting classifications of pathogenicity

Condition: not provided
Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 1

Criteria Provided
Conflicting Classifications

CA6143168

rs_144087607

2 SubmittersRCV000925053 RCV001108218 RCV001108219

NM_002496.4(NDUFS8):c.19C>A (p.Pro7Thr)

SNV
Germline

Chr11:68032170

Conflicting classifications of pathogenicity

Condition: not provided
Mitochondrial complex I deficiency, nuclear type 1
Leigh syndrome

Criteria Provided
Conflicting Classifications

CA6146321

rs_142658611

6 SubmittersRCV000923575 RCV001103233 RCV001103232

NM_000251.3(MSH2):c.943-5A>G

SNV
Germline

Chr2:47416291

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA769457476

rs_1057521671

4 SubmittersRCV000920201 RCV005249306 RCV002445021 RCV005367626

NM_000251.3(MSH2):c.135G>C (p.Ala45=)

SNV
Germline

Chr2:47403326

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA426119436

rs_890172773

4 SubmittersRCV000929209 RCV001079006 RCV005249322 RCV002382104

NM_000179.3(MSH6):c.195A>G (p.Ser65=)

SNV
Germline

Chr2:47783428

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA426120768

rs_1572698398

2 SubmittersRCV004003249 RCV005092821

NM_000179.3(MSH6):c.243G>C (p.Ala81=)

SNV
Germline

Chr2:47783476

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA426120869

rs_1057523564

4 SubmittersRCV000938012 RCV001015548 RCV004003299 RCV005423150

NM_000179.3(MSH6):c.520A>C (p.Arg174=)

SNV
Germline

Chr2:47795956

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Hereditary cancer-predisposing syndrome
Condition: not provided
Endometrial carcinoma
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA425992849

rs_1405000889

5 SubmittersRCV000939147 RCV000986704 RCV001023729 RCV003478590 RCV005359689

NM_000179.3(MSH6):c.1449G>C (p.Val483=)

SNV
Germline

Chr2:47799432

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Condition: not provided
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA46708107

rs_35590297

6 SubmittersRCV001181718 RCV001472017 RCV004004315 RCV005001125 RCV005427431

NM_000179.3(MSH6):c.1902G>A (p.Leu634=)

SNV
Germline

Chr2:47799885

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
not specified
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA426121299

rs_1572724876

7 SubmittersRCV001422530 RCV002265911 RCV003478591 RCV002409244 RCV004004320 RCV005427435

NM_000249.4(MLH1):c.513A>G (p.Glu171=)

SNV
Germline

Chr3:37008873

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA72789977

rs_779148982

5 SubmittersRCV001023599 RCV001394957 RCV005601636 RCV004003292

NM_000108.5(DLD):c.375G>A (p.Glu125=)

SNV
Germline

Chr7:107904995

Conflicting classifications of pathogenicity

Pyruvate dehydrogenase E3 deficiency
Pyruvate dehydrogenase complex deficiency
Leigh syndrome

Criteria Provided
Conflicting Classifications

CA4434451

rs_559057715

3 SubmittersRCV000928867 RCV001163572 RCV001163573

NM_024120.5(NDUFAF5):c.667A>C (p.Asn223His)

SNV
Germline

Chr20:13801633

Conflicting classifications of pathogenicity

Condition: not provided
Leigh syndrome

Criteria Provided
Conflicting Classifications

CA9767833

rs_199543540

3 SubmittersRCV000944245 RCV001279574

NM_014159.7(SETD2):c.1622G>C (p.Arg541Pro)

SNV
Germline

Chr3:47123014

Conflicting classifications of pathogenicity

Luscan-Lumish syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA352529763

rs_144677816

2 SubmittersRCV000979982 RCV004773209

NM_018344.6(SLC29A3):c.1347G>A (p.Thr449=)

SNV
Germline

Chr10:71362527

Conflicting classifications of pathogenicity

H syndrome
SLC29A3-related disorder

Criteria Provided
Conflicting Classifications

CA5543188

rs_373404056

3 SubmittersRCV000978966 RCV003906103

NM_024426.6(WT1):c.1281G>A (p.Gln427=)

SNV
Germline

Chr11:32392739

Conflicting classifications of pathogenicity

Drash syndrome
Frasier syndrome
Wilms tumor 1
11p partial monosomy syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA473565933

rs_774650640

2 SubmittersRCV000975660 RCV004777912

NM_000377.3(WAS):c.1049C>T (p.Ala350Val)

SNV
Germline

ChrX:48688777

Conflicting classifications of pathogenicity

Wiskott-Aldrich syndrome
Thrombocytopenia 1
X-linked severe congenital neutropenia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA412873120

rs_1307143057

2 SubmittersRCV001484626 RCV003307780

NM_000535.7(PMS2):c.2175-5T>C

SNV
Germline

Chr7:5978701

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA915944858

rs_1583286414

3 SubmittersRCV001463176 RCV002427423 RCV005427471

NM_001136193.2(FASTKD2):c.868C>T (p.Arg290Ter)

SNV
Germline

Chr2:206770181

Pathogenic

Leigh syndrome
Combined oxidative phosphorylation deficiency 44
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA2074979

rs_778120270

4 SubmittersRCV000984085 RCV001090022 RCV002508273

NM_000251.3(MSH2):c.537T>C (p.Pro179=)

SNV
Germline

Chr2:47410264

Conflicting classifications of pathogenicity

Condition: not provided
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA426119554

rs_1573441348

2 SubmittersRCV000985814 RCV005249458

NM_000249.4(MLH1):c.2058C>A (p.Ile686=)

SNV
Germline

Chr3:37048972

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Conflicting Classifications

CA433086565

rs_1242136178

5 SubmittersRCV000985783 RCV002067570 RCV004004414 RCV005372503 RCV005249456

NM_000251.3(MSH2):c.1662-4G>C

SNV
Germline

Chr2:47470961

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA915943818

rs_1456908037

4 SubmittersRCV000985798 RCV002549654 RCV005249457 RCV004944765

NM_005006.7(NDUFS1):c.1256G>A (p.Arg419Gln)

SNV
Germline

Chr2:206141947

Conflicting classifications of pathogenicity

Leigh syndrome
Condition: not provided
Mitochondrial complex I deficiency, nuclear type 5

Criteria Provided
Conflicting Classifications

CA2070515

rs_776114731

3 SubmittersRCV000986982 RCV001858657 RCV005603674

NM_005006.7(NDUFS1):c.518T>G (p.Met173Arg)

SNV
Unknown

Chr2:206147564

Likely pathogenic

Leigh syndrome

Criteria Provided
Single Submitter

CA350061036

rs_747249702

1 SubmittersRCV000986985

NM_000251.3(MSH2):c.-21A>T

SNV
Germline

Chr2:47403171

Conflicting classifications of pathogenicity

Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA46666287

rs_776559145

2 SubmittersRCV000986641 RCV002549673

NM_000251.3(MSH2):c.198C>G (p.Tyr66Ter)

SNV
Germline

Chr2:47403389

Pathogenic

Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA346729044

rs_730881784

4 SubmittersRCV000986644 RCV002550598 RCV002416267

NM_000251.3(MSH2):c.212-1G>T

SNV
Germline

Chr2:47408400

Conflicting classifications of pathogenicity

Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA346729448

rs_267607914

3 SubmittersRCV000986646 RCV002416268 RCV005092968

NM_000251.3(MSH2):c.356T>A (p.Leu119Ter)

SNV
Germline

Chr2:47408545

Pathogenic/Likely pathogenic

Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA346730120

rs_1573437173

2 SubmittersRCV000986648 RCV001858650

NM_000251.3(MSH2):c.2211-1G>C

SNV
Germline

Chr2:47478271

Likely pathogenic

Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA346729648

rs_267607979

4 SubmittersRCV000986684 RCV001869340 RCV002427439

NM_000179.3(MSH6):c.2082C>A (p.Cys694Ter)

SNV
Unknown

Chr2:47800065

Pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

CA346750822

rs_1114167791

1 SubmittersRCV000986719

NM_000179.3(MSH6):c.2298T>G (p.His766Gln)

SNV
Germline

Chr2:47800281

Conflicting classifications of pathogenicity

Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA068773

rs_768535330

2 SubmittersRCV000986721 RCV001351789

NM_000179.3(MSH6):c.2641G>A (p.Gly881Ser)

SNV
Germline

Chr2:47800624

Conflicting classifications of pathogenicity

Lynch syndrome 5
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA46711385

rs_998186339

2 SubmittersRCV000986725 RCV004004417

NM_000179.3(MSH6):c.2892T>A (p.Cys964Ter)

SNV
Unknown

Chr2:47800875

Pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

CA346756072

rs_1482228994

1 SubmittersRCV000986727

NM_000179.3(MSH6):c.3646G>C (p.Gly1216Arg)

SNV
Germline

Chr2:47805707

Conflicting classifications of pathogenicity

Lynch syndrome 5
Hereditary cancer-predisposing syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA346760636

rs_1114167690

3 SubmittersRCV000986740 RCV002346194 RCV003467542

NM_000535.7(PMS2):c.862C>T (p.Gln288Ter)

SNV
Germline

Chr7:5995575

Pathogenic

Lynch syndrome 4
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA366743472

rs_1583363851

5 SubmittersRCV000987841 RCV002549690 RCV002372709

NM_003172.4(SURF1):c.236G>A (p.Trp79Ter)

SNV
Germline

Chr9:133354828

Pathogenic

Leigh syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA375694727

rs_1244071473

2 SubmittersRCV000988283

NM_024426.6(WT1):c.28G>T (p.Ala10Ser)

SNV
Germline

Chr11:32435333

Conflicting classifications of pathogenicity

Drash syndrome
Hereditary cancer-predisposing syndrome
Frasier syndrome
Drash syndrome
Wilms tumor 1
11p partial monosomy syndrome
WT1-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA379966536

rs_1351753257

5 SubmittersRCV000988524 RCV002256642 RCV003769301 RCV004553528 RCV005306222

NM_007103.4(NDUFV1):c.766C>T (p.Arg256Cys)

SNV
Germline

Chr11:67611060

Conflicting classifications of pathogenicity

Leigh syndrome
Condition: not provided
Mitochondrial complex I deficiency, nuclear type 4
Mitochondrial complex I deficiency, nuclear type 1

Criteria Provided
Conflicting Classifications

CA6143282

rs_755312472

5 SubmittersRCV000988584 RCV001869354 RCV005049723 RCV001104933

NM_007103.4(NDUFV1):c.1129G>T (p.Glu377Ter)

SNV
Germline

Chr11:67611945

Likely pathogenic

Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 4

Criteria Provided
Multiple Submitters
No Conflicts

CA381541638

rs_1591111808

2 SubmittersRCV000988585 RCV005049724

NM_000377.3(WAS):c.1081C>A (p.Pro361Thr)

SNV
Germline

ChrX:48688809

Conflicting classifications of pathogenicity

X-linked severe congenital neutropenia
X-linked severe congenital neutropenia
Thrombocytopenia 1
Wiskott-Aldrich syndrome

Criteria Provided
Conflicting Classifications

CA10404035

rs_201657175

3 SubmittersRCV000990813 RCV001517040

NM_022552.5(DNMT3A):c.58G>A (p.Glu20Lys)

SNV
Germline

Chr2:25313927

Conflicting classifications of pathogenicity

Condition: not provided
Craniosynostosis syndrome
Tatton-Brown-Rahman overgrowth syndrome

Criteria Provided
Conflicting Classifications

CA44279226

rs_781254365

3 SubmittersRCV000997084 RCV005626291 RCV005093009

NM_000179.3(MSH6):c.130C>T (p.Pro44Ser)

SNV
Germline

Chr2:47783363

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346734892

rs_1558645097

3 SubmittersRCV001349550 RCV004004455 RCV004944768

NM_006218.4(PIK3CA):c.1090G>A (p.Gly364Arg)

SNV
Germline/somatic

Chr3:179204533

Pathogenic/Likely pathogenic

Condition: not provided
Megalencephaly-capillary malformation-polymicrogyria syndrome
PIK3CA related overgrowth syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA355282856

rs_1576935161

4 SubmittersRCV000998161 RCV001775154 RCV003233916

NM_001376571.1(MADD):c.1037T>C (p.Leu346Pro)

SNV
Germline

Chr11:47276805

Conflicting classifications of pathogenicity

Condition: not provided
Deeah syndrome
Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia

Criteria Provided
Conflicting Classifications

CA380324577

rs_1591767154

3 SubmittersRCV000994628 RCV002290509 RCV001784525

NM_015272.5(RPGRIP1L):c.1261G>A (p.Val421Ile)

SNV
Germline

Chr16:53658861

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome
RPGRIP1L-related disorder
Inborn genetic diseases
Joubert syndrome
Meckel-Gruber syndrome
COACH syndrome 3
Joubert syndrome 7
Meckel syndrome, type 5

Criteria Provided
Conflicting Classifications

CA8057860

rs_138383101

7 SubmittersRCV000996272 RCV001832313 RCV004536031 RCV005268850 RCV001246734 RCV005012432

NM_000540.3(RYR1):c.668A>G (p.His223Arg)

SNV
Germline

Chr19:38446508

Conflicting classifications of pathogenicity

Condition: not provided
RYR1-related disorder
Congenital myopathy with fiber type disproportion
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA068570

rs_766836202

5 SubmittersRCV000996855 RCV001215577 RCV002481782 RCV004004442

NM_006941.4(SOX10):c.768G>A (p.Pro256=)

SNV
Germline

Chr22:37974128

Conflicting classifications of pathogenicity

Condition: not provided
PCWH syndrome
Waardenburg syndrome type 2E
Waardenburg syndrome type 4C

Criteria Provided
Conflicting Classifications

CA10228591

rs_773109683

3 SubmittersRCV000997919 RCV002481789

NM_024426.6(WT1):c.523G>T (p.Gly175Cys)

SNV
Germline

Chr11:32434838

Likely pathogenic

Drash syndrome

Criteria Provided
Single Submitter

CA379964782

rs_1590409377

1 SubmittersRCV000995915

NM_000179.3(MSH6):c.3586G>T (p.Glu1196Ter)

SNV
Germline

Chr2:47805647

Pathogenic

not specified
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346760525

rs_75095286

2 SubmittersRCV001001256 RCV003455040

NM_022552.5(DNMT3A):c.2204A>G (p.Tyr735Cys)

SNV
Germline/somatic

Chr2:25240420

Conflicting classifications of pathogenicity

Myeloproliferative disorder
Condition: not provided
not specified
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A-related disorder
Malignant lymphoma, large B-cell, diffuse

Criteria Provided
Conflicting Classifications

CA1555703

rs_147828672

6 SubmittersRCV001003798 RCV001776076 RCV002249617 RCV002471010 RCV004746194 RCV003448984

NM_000540.3(RYR1):c.2044C>T (p.Arg682Trp)

SNV
Germline

Chr19:38458169

Conflicting classifications of pathogenicity

RYR1-related disorder
Congenital myopathy with fiber type disproportion
Malignant hyperthermia, susceptibility to, 1
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
King Denborough syndrome
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA062775

rs_776252106

6 SubmittersRCV001862742 RCV002479200 RCV001004922 RCV004004475 RCV002305557

NM_006941.4(SOX10):c.404G>A (p.Ser135Asn)

SNV
Germline

Chr22:37983381

Pathogenic/Likely pathogenic

PCWH syndrome
Waardenburg syndrome type 4C

Criteria Provided
Multiple Submitters
No Conflicts

CA411500121

rs_74315515

2 SubmittersRCV001007915 RCV001262264

NM_000251.3(MSH2):c.19G>T (p.Glu7Ter)

SNV
Germline

Chr2:47403210

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA346728451

rs_375561490

4 SubmittersRCV001014004 RCV004588466 RCV005093105

NM_000251.3(MSH2):c.79C>T (p.Pro27Ser)

SNV
Germline

Chr2:47403270

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
MSH2-related disorder
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346728682

rs_878853826

5 SubmittersRCV001027033 RCV001342142 RCV003479266 RCV004528342 RCV003989625

NM_000251.3(MSH2):c.177G>C (p.Lys59Asn)

SNV
Germline

Chr2:47403368

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Muir-Torré syndrome
Mismatch repair cancer syndrome 2

Criteria Provided
Conflicting Classifications

CA346729001

rs_1449905909

4 SubmittersRCV001013128 RCV001312301 RCV005029571

NM_000251.3(MSH2):c.203G>A (p.Gly68Glu)

SNV
Germline

Chr2:47403394

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346729055

rs_1064795914

3 SubmittersRCV001014183 RCV001345314 RCV003461338

NM_000251.3(MSH2):c.458C>T (p.Ser153Phe)

SNV
Germline

Chr2:47410185

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346730512

rs_766349734

4 SubmittersRCV001022744 RCV001066450 RCV004004631 RCV004570009

NM_000251.3(MSH2):c.461C>T (p.Ala154Val)

SNV
Germline

Chr2:47410188

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346730524

rs_1558459194

3 SubmittersRCV001022796 RCV001060535 RCV004004632

NM_000251.3(MSH2):c.517C>G (p.Leu173Val)

SNV
Germline

Chr2:47410244

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Lynch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA346730741

rs_1176822890

7 SubmittersRCV001023669 RCV001323361 RCV003467676 RCV004004639 RCV004998565

NM_000251.3(MSH2):c.714T>G (p.Tyr238Ter)

SNV
Germline

Chr2:47412482

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346732082

rs_369670665

4 SubmittersRCV001026090 RCV001862352 RCV003455135

NM_000251.3(MSH2):c.809T>C (p.Leu270Pro)

SNV
Germline

Chr2:47414285

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Lynch syndrome 1
Muir-Torré syndrome
Mismatch repair cancer syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA346732763

rs_1573451078

4 SubmittersRCV001066735 RCV001027174 RCV003455140 RCV005394651

NM_000251.3(MSH2):c.1105G>A (p.Asp369Asn)

SNV
Germline

Chr2:47429770

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA346733580

rs_1573484275

4 SubmittersRCV001009904 RCV004004478 RCV004569860 RCV001066046

NM_000251.3(MSH2):c.1276G>C (p.Gly426Arg)

SNV
Germline

Chr2:47429941

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Muir-Torré syndrome
Mismatch repair cancer syndrome 2

Criteria Provided
Conflicting Classifications

CA346734314

rs_879254234

5 SubmittersRCV001010702 RCV003336230 RCV003594068 RCV005367667

NM_000251.3(MSH2):c.1534A>T (p.Lys512Ter)

SNV
Germline

Chr2:47466681

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346727751

rs_1573553178

2 SubmittersRCV001012066 RCV003455073

NM_000251.3(MSH2):c.1583A>G (p.Lys528Arg)

SNV
Germline

Chr2:47466730

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA46685049

rs_755799226

3 SubmittersRCV001012282 RCV001220682 RCV004807253

NM_000251.3(MSH2):c.1882G>A (p.Gly628Arg)

SNV
Germline

Chr2:47475147

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA031882

rs_371776176

3 SubmittersRCV001013514 RCV001342329 RCV003467611

NM_000251.3(MSH2):c.2065G>A (p.Ala689Thr)

SNV
Germline

Chr2:47476426

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Muir-Torré syndrome
Mismatch repair cancer syndrome 2
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346729172

rs_914610419

4 SubmittersRCV001014220 RCV001061882 RCV002481821 RCV004569928

NM_000251.3(MSH2):c.2080T>A (p.Phe694Ile)

SNV
Germline

Chr2:47476441

Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA346729198

rs_63751409

3 SubmittersRCV001014362 RCV003455083 RCV005093110

NM_000251.3(MSH2):c.2132G>C (p.Arg711Pro)

SNV
Germline

Chr2:47476493

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346729288

rs_138465383

3 SubmittersRCV001014562 RCV001036842 RCV003455086

NM_000251.3(MSH2):c.2134G>A (p.Val712Ile)

SNV
Germline

Chr2:47476495

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346729290

rs_1573570391

3 SubmittersRCV001014566 RCV001860766 RCV003461341

NM_000251.3(MSH2):c.2245G>T (p.Glu749Ter)

SNV
Germline

Chr2:47478306

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
MSH2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA46704848

rs_63751477

4 SubmittersRCV001014912 RCV002550802 RCV003455090 RCV004528338

NM_000251.3(MSH2):c.2320A>T (p.Ile774Phe)

SNV
Germline

Chr2:47478381

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA035391

rs_775464903

3 SubmittersRCV001015182 RCV001860785 RCV003461347

NM_000251.3(MSH2):c.2386A>G (p.Thr796Ala)

SNV
Germline

Chr2:47478447

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346730133

rs_876660738

3 SubmittersRCV001015359 RCV001199895 RCV003467623

NM_000251.3(MSH2):c.2402A>G (p.His801Arg)

SNV
Germline

Chr2:47478463

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346730192

rs_1114167875

4 SubmittersRCV001015422 RCV001062324 RCV003467624

NM_000251.3(MSH2):c.2462T>C (p.Val821Ala)

SNV
Germline

Chr2:47480699

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA346730523

rs_1573578373

4 SubmittersRCV001015615 RCV003467625 RCV005093126

NM_000251.3(MSH2):c.2533A>T (p.Lys845Ter)

SNV
Germline

Chr2:47480770

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346730798

rs_63750571

2 SubmittersRCV001015793 RCV003455091

NM_000251.3(MSH2):c.2628A>C (p.Glu876Asp)

SNV
Germline

Chr2:47480865

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346731169

rs_1271303836

3 SubmittersRCV001016084 RCV001860814 RCV004807260

NM_000251.3(MSH2):c.2746A>C (p.Ile916Leu)

SNV
Germline

Chr2:47482890

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA037420

rs_751216225

4 SubmittersRCV001016472 RCV001860831 RCV004004557

NM_000179.3(MSH6):c.34C>T (p.Pro12Ser)

SNV
Germline

Chr2:47783267

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Mismatch repair cancer syndrome 3
Endometrial carcinoma
Lynch syndrome 5
Endometrial carcinoma
Condition: not provided

Criteria Provided
Conflicting Classifications

CA071083

rs_587782084

5 SubmittersRCV001020461 RCV001316018 RCV005394638 RCV003467658 RCV004998558

NM_000179.3(MSH6):c.357C>T (p.Phe119=)

SNV
Germline

Chr2:47791023

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Mismatch repair cancer syndrome 3
Lynch syndrome 5
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA425989387

rs_1298565919

4 SubmittersRCV001020651 RCV002068995 RCV005394639 RCV005428043

NM_000179.3(MSH6):c.901A>T (p.Lys301Ter)

SNV
Germline

Chr2:47798884

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Condition: not provided
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346740701

rs_1572720794

5 SubmittersRCV001018658 RCV001039831 RCV003461371 RCV001779102 RCV003455101

NM_000179.3(MSH6):c.1181C>G (p.Ser394Cys)

SNV
Germline

Chr2:47799164

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346742378

rs_1410933611

6 SubmittersRCV001010181 RCV001296294 RCV001819721 RCV005001127 RCV004807251

NM_000179.3(MSH6):c.1362C>A (p.Gly454=)

SNV
Germline

Chr2:47799345

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 5
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA426121092

rs_1572722712

4 SubmittersRCV001469644 RCV004588456 RCV005428000 RCV001011129

NM_000179.3(MSH6):c.1368G>A (p.Trp456Ter)

SNV
Germline

Chr2:47799351

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA346744881

rs_1572722737

3 SubmittersRCV001011198 RCV003455070 RCV001047126

NM_000179.3(MSH6):c.1493A>G (p.Lys498Arg)

SNV
Germline

Chr2:47799476

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA067760

rs_147136417

5 SubmittersRCV001011856 RCV001354837 RCV002279707 RCV001215217 RCV004004504

NM_000179.3(MSH6):c.2071C>T (p.Leu691Phe)

SNV
Germline

Chr2:47800054

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA068445

rs_765224443

6 SubmittersRCV001014292 RCV001061259 RCV001569098 RCV003467616 RCV004004531

NM_000179.3(MSH6):c.2219T>G (p.Leu740Ter)

SNV
Germline

Chr2:47800202

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA346752427

rs_745483465

5 SubmittersRCV001014787 RCV001222639 RCV003455088 RCV004004537

NM_000179.3(MSH6):c.2736G>A (p.Trp912Ter)

SNV
Germline

Chr2:47800719

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346755386

rs_1572728472

3 SubmittersRCV001016441 RCV002549439 RCV003455093

NM_000179.3(MSH6):c.2863C>T (p.Leu955=)

SNV
Germline

Chr2:47800846

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA426121962

rs_1401779172

3 SubmittersRCV001016819 RCV003478626 RCV005428027

NM_000179.3(MSH6):c.3361G>T (p.Glu1121Ter)

SNV
Germline

Chr2:47803608

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346758780

rs_587781609

2 SubmittersRCV001020091 RCV003455109

NM_000179.3(MSH6):c.3554C>G (p.Ser1185Ter)

SNV
Germline

Chr2:47805025

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346760277

rs_1572739043

4 SubmittersRCV001020593 RCV001231905 RCV003455112

NM_000179.3(MSH6):c.3818A>G (p.Asn1273Ser)

SNV
Germline

Chr2:47806468

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA072186

rs_201830316

5 SubmittersRCV001021223 RCV001861012 RCV004569996 RCV004004611

NM_000179.3(MSH6):c.3861T>G (p.Tyr1287Ter)

SNV
Germline

Chr2:47806511

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA346761332

rs_1060504739

5 SubmittersRCV001021315 RCV001585927 RCV004004613 RCV003455119 RCV003758986

NM_004168.4(SDHA):c.1177G>A (p.Val393Met)

SNV
Germline

Chr5:235256

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Pheochromocytoma/paraganglioma syndrome 5
Mitochondrial complex II deficiency, nuclear type 1
Mitochondrial complex II deficiency, nuclear type 1
Hereditary pheochromocytoma-paraganglioma
Leigh syndrome
Condition: not provided
Dilated cardiomyopathy 1GG
SDHA-related disorder

Criteria Provided
Conflicting Classifications

CA3173130

rs_372989971

6 SubmittersRCV001010145 RCV001238661 RCV001156140 RCV001156141 RCV001156142 RCV003478607 RCV004569864 RCV004536047

NM_000535.7(PMS2):c.2536G>T (p.Gly846Ter)

SNV
Germline

Chr7:5973452

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 4
Mismatch repair cancer syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366734842

rs_1583269216

4 SubmittersRCV001015801 RCV003758970 RCV004998544 RCV005394630

NM_000535.7(PMS2):c.2365A>T (p.Met789Leu)

SNV
Germline

Chr7:5977668

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
not specified

Criteria Provided
Conflicting Classifications

CA047884

rs_377259633

5 SubmittersRCV001015297 RCV001362342 RCV003461349 RCV003479263

NM_000535.7(PMS2):c.1924G>A (p.Glu642Lys)

SNV
Germline

Chr7:5986841

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA045862

rs_752772040

6 SubmittersRCV001013714 RCV001047146 RCV001539689 RCV004004527

NM_000535.7(PMS2):c.1887A>G (p.Ile629Met)

SNV
Germline

Chr7:5986878

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA366739421

rs_1583314135

4 SubmittersRCV001013542 RCV001860742 RCV004807255

NM_000535.7(PMS2):c.1835A>G (p.Asn612Ser)

SNV
Germline

Chr7:5986930

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA366739663

rs_1583314932

3 SubmittersRCV001013329 RCV001873243 RCV004569920

NM_000535.7(PMS2):c.1447G>A (p.Asp483Asn)

SNV
Germline

Chr7:5987318

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Lynch syndrome 4
Mismatch repair cancer syndrome 4
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA366741953

rs_1583319965

4 SubmittersRCV001210724 RCV003467596 RCV005047204 RCV001011631

NM_000535.7(PMS2):c.1205A>G (p.Gln402Arg)

SNV
Germline

Chr7:5987560

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA366742570

rs_1583323301

3 SubmittersRCV001010298 RCV001232883 RCV004004485

NM_000535.7(PMS2):c.939T>G (p.Tyr313Ter)

SNV
Germline

Chr7:5992022

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366743154

rs_1562651617

3 SubmittersRCV001019273 RCV001860942 RCV003455106

NM_000535.7(PMS2):c.65C>A (p.Ser22Ter)

SNV
Germline

Chr7:6005990

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA050809

rs_767028531

5 SubmittersRCV001025441 RCV001383035 RCV003455132 RCV004998572

NM_000535.7(PMS2):c.1A>C (p.Met1Leu)

SNV
Germline

Chr7:6009019

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 4
Hereditary nonpolyposis colon cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA366745252

rs_587779333

6 SubmittersRCV001013976 RCV001242115 RCV002259376 RCV003455081 RCV003387954

NM_000251.3(MSH2):c.942+1G>A

SNV
Germline

Chr2:47414419

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Lynch syndrome 1
Muir-Torré syndrome
Mismatch repair cancer syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA346733027

rs_587779193

4 SubmittersRCV001019333 RCV001210828 RCV003455107 RCV005359774

NM_000179.3(MSH6):c.3172+1G>C

SNV
Germline

Chr2:47801156

Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346756753

rs_587779255

3 SubmittersRCV001018969 RCV003455104

NM_000179.3(MSH6):c.3802-1G>C

SNV
Germline

Chr2:47806451

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA346761210

rs_1572746025

3 SubmittersRCV001021191 RCV003455116 RCV002551836

NM_000535.7(PMS2):c.2276-3T>C

SNV
Germline

Chr7:5977760

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA915944850

rs_1583281760

3 SubmittersRCV001014870 RCV001214259 RCV005428013

NM_000535.7(PMS2):c.1145-2A>G

SNV
Germline

Chr7:5987622

Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366742711

rs_1325835006

3 SubmittersRCV001017449 RCV001873297 RCV003455098

NM_000535.7(PMS2):c.705+1G>A

SNV
Germline

Chr7:5999107

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA366743806

rs_267608147

5 SubmittersRCV001025972 RCV003455134 RCV003758989 RCV004807268

NM_000251.3(MSH2):c.448G>T (p.Val150Phe)

SNV
Germline

Chr2:47410175

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Lynch syndrome
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346730484

rs_1558459157

4 SubmittersRCV001030706 RCV001357699 RCV002249638 RCV002327243

NM_000249.4(MLH1):c.1855G>A (p.Ala619Thr)

SNV
Germline

Chr3:37047642

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA352065160

rs_267607866

4 SubmittersRCV001030631 RCV002409352 RCV003758991 RCV004555612

NM_014159.7(SETD2):c.5818A>G (p.Ser1940Gly)

SNV
Germline

Chr3:47083962

Conflicting classifications of pathogenicity

Luscan-Lumish syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2362845

rs_115156486

2 SubmittersRCV001034382 RCV002552056

NM_014159.7(SETD2):c.3026T>C (p.Met1009Thr)

SNV
Germline

Chr3:47121610

Conflicting classifications of pathogenicity

Luscan-Lumish syndrome
Rabin-Pappas syndrome
Intellectual developmental disorder, autosomal dominant 70
Luscan-Lumish syndrome

Criteria Provided
Conflicting Classifications

CA2363444

rs_114527197

4 SubmittersRCV001034358 RCV003224517

NM_001375834.1(WIPF1):c.122G>A (p.Ser41Asn)

SNV
Germline

Chr2:174581369

Conflicting classifications of pathogenicity

Wiskott-Aldrich syndrome 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1974229

rs_141730361

3 SubmittersRCV001049693 RCV002553208

NM_000251.3(MSH2):c.190A>G (p.Ile64Val)

SNV
Germline

Chr2:47403381

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome
Lynch syndrome 1
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA346729023

rs_1166747167

7 SubmittersRCV001062343 RCV001806007 RCV002268425 RCV004000125 RCV003467816 RCV005359833

NM_000251.3(MSH2):c.1031A>C (p.Gln344Pro)

SNV
Germline

Chr2:47416384

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346733186

rs_1673078633

2 SubmittersRCV001065068 RCV003455285

NM_000251.3(MSH2):c.1453A>C (p.Met485Leu)

SNV
Germline

Chr2:47463097

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346726962

rs_775377647

3 SubmittersRCV001035390 RCV002391091 RCV003467701

NM_000251.3(MSH2):c.1589A>C (p.Glu530Ala)

SNV
Germline

Chr2:47466736

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346727862

rs_1666901220

5 SubmittersRCV001042504 RCV003321787 RCV002400248 RCV004570138

NM_000251.3(MSH2):c.1688A>G (p.Tyr563Cys)

SNV
Germline

Chr2:47470991

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Mismatch repair cancer syndrome 2
Muir-Torré syndrome
Lynch syndrome 1
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346728089

rs_63751054

6 SubmittersRCV001062181 RCV001183388 RCV004000124 RCV002479368 RCV004570256

NM_000251.3(MSH2):c.2090G>C (p.Cys697Ser)

SNV
Germline

Chr2:47476451

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346729215

rs_63750398

4 SubmittersRCV001061905 RCV004570253 RCV004030441

NM_000251.3(MSH2):c.2525A>G (p.Glu842Gly)

SNV
Germline

Chr2:47480762

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome 1
Lynch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA346730767

rs_373393954

7 SubmittersRCV001047234 RCV001183949 RCV003226427 RCV003467748 RCV004004786 RCV005054319

NM_000251.3(MSH2):c.2629A>T (p.Arg877Ter)

SNV
Germline

Chr2:47480866

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA346731171

rs_1667504677

3 SubmittersRCV001063932 RCV004570268 RCV004697040

NM_000179.3(MSH6):c.5C>T (p.Ser2Leu)

SNV
Germline

Chr2:47783238

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA073146

rs_752887988

3 SubmittersRCV001039473 RCV002354992 RCV004004727

NM_000179.3(MSH6):c.77G>C (p.Arg26Thr)

SNV
Germline

Chr2:47783310

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346734792

rs_1472227590

3 SubmittersRCV001052925 RCV004000056 RCV004944814

NM_000179.3(MSH6):c.1039G>T (p.Glu347Ter)

SNV
Germline

Chr2:47799022

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346741451

rs_1669287624

3 SubmittersRCV001055202 RCV002393274 RCV003455252

NM_000179.3(MSH6):c.1242G>A (p.Trp414Ter)

SNV
Germline

Chr2:47799225

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346743760

rs_1007311950

3 SubmittersRCV001071137 RCV002379631 RCV003455304

NM_000179.3(MSH6):c.1739C>A (p.Ser580Ter)

SNV
Germline

Chr2:47799722

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 5
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA346748830

rs_41295270

4 SubmittersRCV001043808 RCV001356226 RCV003455178 RCV004807286

NM_000179.3(MSH6):c.2647A>T (p.Lys883Ter)

SNV
Germline

Chr2:47800630

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Hereditary nonpolyposis colon cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA346755146

rs_1669491751

3 SubmittersRCV001053044 RCV003455234 RCV004526074

NM_000249.4(MLH1):c.61G>T (p.Ala21Ser)

SNV
Germline

Chr3:36993608

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA352060835

rs_2080897397

4 SubmittersRCV001069082 RCV002355096 RCV004998634 RCV004000181

NM_000249.4(MLH1):c.828A>G (p.Ile276Met)

SNV
Germline

Chr3:37017543

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Conflicting Classifications

CA72792579

rs_1036438114

5 SubmittersRCV001058898 RCV001181965 RCV004000106 RCV004570234

NM_014159.7(SETD2):c.7447G>A (p.Val2483Ile)

SNV
Germline

Chr3:47017724

Conflicting classifications of pathogenicity

Luscan-Lumish syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2362482

rs_141852778

2 SubmittersRCV001043833 RCV002553101

NM_014159.7(SETD2):c.4124A>G (p.Asn1375Ser)

SNV
Germline

Chr3:47120512

Conflicting classifications of pathogenicity

Luscan-Lumish syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA352518567

rs_1348411642

2 SubmittersRCV001063441 RCV005268895

NM_001378615.1(CC2D2A):c.1466G>A (p.Arg489Gln)

SNV
Germline

Chr4:15528726

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
Condition: not provided
Joubert syndrome 9
Meckel syndrome, type 6
COACH syndrome 2
Retinitis pigmentosa 93

Criteria Provided
Conflicting Classifications

CA356410808

rs_1300362447

3 SubmittersRCV001056635 RCV001760005 RCV005029631

NM_001378615.1(CC2D2A):c.3325C>T (p.Arg1109Ter)

SNV
Germline

Chr4:15567713

Pathogenic/Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Condition: not provided
Neurodevelopmental disorder
Joubert syndrome 9
COACH syndrome 2
Retinitis pigmentosa 93
Meckel syndrome, type 6

Criteria Provided
Multiple Submitters
No Conflicts

CA2864141

rs_760676442

5 SubmittersRCV001041856 RCV001280749 RCV002276597 RCV002489573

NM_000535.7(PMS2):c.2489T>C (p.Leu830Pro)

SNV
Germline

Chr7:5973499

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA366734948

rs_1781502574

3 SubmittersRCV001047153 RCV002280584 RCV002429620

NM_000535.7(PMS2):c.1810C>T (p.Gln604Ter)

SNV
Germline

Chr7:5986955

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366739743

rs_1064793426

3 SubmittersRCV001064864 RCV003455284

NM_000535.7(PMS2):c.1802C>G (p.Ser601Ter)

SNV
Germline

Chr7:5986963

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366739777

rs_63750456

5 SubmittersRCV001061254 RCV002411572 RCV003446602

NM_000535.7(PMS2):c.1774C>G (p.Gln592Glu)

SNV
Germline

Chr7:5986991

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA366739923

rs_63750994

3 SubmittersRCV001037136 RCV004004707 RCV004659299

NM_000535.7(PMS2):c.520C>T (p.Gln174Ter)

SNV
Germline

Chr7:6002470

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA366744185

rs_1221485925

4 SubmittersRCV001058031 RCV003455262 RCV004944822

NM_018344.6(SLC29A3):c.139G>T (p.Glu47Ter)

SNV
Germline

Chr10:71322893

Pathogenic

H syndrome

Criteria Provided
Single Submitter

CA377129152

rs_377762611

1 SubmittersRCV001069573

NM_024426.6(WT1):c.1022G>A (p.Ser341Asn)

SNV
Germline

Chr11:32400039

Conflicting classifications of pathogenicity

Wilms tumor 1
11p partial monosomy syndrome
Drash syndrome
Frasier syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA064041

rs_371021920

2 SubmittersRCV001054708 RCV005286294

NM_024426.6(WT1):c.980G>A (p.Ser327Asn)

SNV
Germline

Chr11:32416526

Conflicting classifications of pathogenicity

Wilms tumor 1
11p partial monosomy syndrome
Drash syndrome
Frasier syndrome
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA379961838

rs_1308955642

2 SubmittersRCV001048053 RCV003153907

NM_024426.6(WT1):c.760C>A (p.Pro254Thr)

SNV
Germline

Chr11:32428521

Conflicting classifications of pathogenicity

Frasier syndrome
Wilms tumor 1
11p partial monosomy syndrome
Drash syndrome
Inborn genetic diseases
Wilms tumor 1

Criteria Provided
Conflicting Classifications

CA065543

rs_2234584

3 SubmittersRCV001071825 RCV004963104 RCV005401722

NM_024426.6(WT1):c.628T>G (p.Cys210Gly)

SNV
Germline

Chr11:32434733

Conflicting classifications of pathogenicity

Wilms tumor 1
11p partial monosomy syndrome
Drash syndrome
Frasier syndrome
Wilms tumor 1
8 conditions
Drash syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA065132

rs_776426005

4 SubmittersRCV001068227 RCV001331298 RCV002489702 RCV004570294 RCV004963096

NM_024426.6(WT1):c.109G>A (p.Gly37Arg)

SNV
Germline

Chr11:32435252

Conflicting classifications of pathogenicity

Wilms tumor 1
11p partial monosomy syndrome
Drash syndrome
Frasier syndrome
Condition: not provided
Wilms tumor 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA379966365

rs_1397886023

4 SubmittersRCV001035107 RCV003233928 RCV005601655 RCV005298672

NM_024426.6(WT1):c.71G>A (p.Arg24His)

SNV
Germline

Chr11:32435290

Conflicting classifications of pathogenicity

Drash syndrome
Frasier syndrome
Wilms tumor 1
11p partial monosomy syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA379966447

rs_1330792627

2 SubmittersRCV001041139 RCV005306229

NM_024426.6(WT1):c.50C>T (p.Pro17Leu)

SNV
Germline

Chr11:32435311

Conflicting classifications of pathogenicity

Wilms tumor 1
11p partial monosomy syndrome
Drash syndrome
Frasier syndrome
Wilms tumor 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA379966490

rs_1853481697

3 SubmittersRCV001067413 RCV004000167 RCV005298698

NM_001040108.2(MLH3):c.1940G>A (p.Arg647His)

SNV
Germline

Chr14:75047716

Conflicting classifications of pathogenicity

Colorectal cancer, hereditary nonpolyposis, type 7
not specified
Lynch syndrome 1
Colorectal cancer
Endometrial carcinoma
Colorectal cancer, hereditary nonpolyposis, type 7

Criteria Provided
Conflicting Classifications

CA7275791

rs_61755653

5 SubmittersRCV001121872 RCV004031840 RCV004576982 RCV005394700

NM_015272.5(RPGRIP1L):c.2303C>A (p.Ser768Ter)

SNV
Germline

Chr16:53648965

Pathogenic/Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome and related disorders
Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA8057588

rs_542206983

3 SubmittersRCV001052996 RCV003323789 RCV005021379

NM_000540.3(RYR1):c.1983G>A (p.Trp661Ter)

SNV
Germline

Chr19:38458108

Pathogenic/Likely pathogenic

RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
Congenital myopathy with fiber type disproportion
King Denborough syndrome
Condition: not provided
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA405695616

rs_1305971341

5 SubmittersRCV001058792 RCV002505620 RCV001784614 RCV004000105

NM_000540.3(RYR1):c.2897C>T (p.Pro966Leu)

SNV
Germline

Chr19:38466117

Conflicting classifications of pathogenicity

RYR1-related disorder
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Congenital myopathy with fiber type disproportion
Congenital multicore myopathy with external ophthalmoplegia
King Denborough syndrome
Condition: not provided
Central core myopathy
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA064173

rs_143179371

5 SubmittersRCV001048927 RCV002489605 RCV003130122 RCV003989632 RCV004004791

NM_000540.3(RYR1):c.7064G>A (p.Arg2355Gln)

SNV
Germline

Chr19:38499671

Conflicting classifications of pathogenicity

RYR1-related disorder
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA069098

rs_144526634

4 SubmittersRCV001066687 RCV002482105 RCV004000162 RCV005603684

NM_000540.3(RYR1):c.8342T>C (p.Ile2781Thr)

SNV
Germline

Chr19:38505340

Conflicting classifications of pathogenicity

RYR1-related disorder
Central core myopathy
King Denborough syndrome
Congenital myopathy with fiber type disproportion
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1
Condition: not provided
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA071860

rs_767805554

6 SubmittersRCV001051646 RCV002505599 RCV003490034 RCV003514460

NM_000540.3(RYR1):c.9472C>T (p.Leu3158=)

SNV
Germline

Chr19:38512483

Conflicting classifications of pathogenicity

RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
Congenital myopathy with fiber type disproportion
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA073657

rs_770942162

3 SubmittersRCV001057839 RCV002482022 RCV004000093

NM_000540.3(RYR1):c.14474G>A (p.Arg4825His)

SNV
Germline

Chr19:38580091

Conflicting classifications of pathogenicity

RYR1-related disorder
Condition: not provided
King Denborough syndrome
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1
Congenital myopathy with fiber type disproportion
Central core myopathy
King Denborough syndrome
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1
Central core myopathy

Criteria Provided
Conflicting Classifications

CA061315

rs_193922875

5 SubmittersRCV001040954 RCV003130110 RCV002481884 RCV004819235

NM_000377.3(WAS):c.70T>C (p.Ser24Pro)

SNV
Germline

ChrX:48683923

Pathogenic

Thrombocytopenia 1
Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia

Criteria Provided
Single Submitter

CA412865528

rs_2062410722

1 SubmittersRCV001035433

NM_000377.3(WAS):c.172C>A (p.Pro58Thr)

SNV
Germline

ChrX:48684322

Pathogenic

Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia
Thrombocytopenia 1

Criteria Provided
Single Submitter

CA412866249

rs_2062412365

1 SubmittersRCV001047233

NM_000377.3(WAS):c.238C>T (p.Gln80Ter)

SNV
Germline

ChrX:48684388

Pathogenic

X-linked severe congenital neutropenia
Thrombocytopenia 1
Wiskott-Aldrich syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA412866578

rs_2062412730

2 SubmittersRCV001058741

NM_000377.3(WAS):c.1090C>T (p.Arg364Ter)

SNV
Germline

ChrX:48688818

Pathogenic

Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia
Thrombocytopenia 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA412873267

rs_2062429013

4 SubmittersRCV001041620 RCV001091017

NM_000179.3(MSH6):c.4002-3A>C

SNV
Germline

Chr2:47806776

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA916080295

rs_1435779670

2 SubmittersRCV001055031 RCV005423843

NM_000535.7(PMS2):c.1144+1G>T

SNV
Germline

Chr7:5989799

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA366742715

rs_373885654

3 SubmittersRCV001053111 RCV003455235 RCV004031668

NM_000535.7(PMS2):c.803+1G>A

SNV
Germline

Chr7:5997325

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 4
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA366743599

rs_1562669585

5 SubmittersRCV001068955 RCV001800953 RCV003455298 RCV004944847

NM_000535.7(PMS2):c.804-2A>G

SNV
Germline

Chr7:5995635

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colon cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA366743591

rs_1307026290

5 SubmittersRCV001054912 RCV003455250 RCV002409456 RCV003994200

NM_015272.5(RPGRIP1L):c.1244-1G>T

SNV
Germline

Chr16:53658879

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA395920644

rs_1306595038

2 SubmittersRCV001058076 RCV002479353

NM_015272.5(RPGRIP1L):c.776+1G>A

SNV
Germline

Chr16:53686432

Pathogenic/Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Condition: not provided
Joubert syndrome
Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA8058032

rs_771226563

4 SubmittersRCV001070906 RCV001784626 RCV001828525 RCV002505659

NM_000540.3(RYR1):c.10824+8G>A

SNV
Germline

Chr19:38527792

Conflicting classifications of pathogenicity

RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
Congenital myopathy with fiber type disproportion
King Denborough syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA054848

rs_374325589

4 SubmittersRCV001034975 RCV002489536 RCV004590030 RCV004689962

NM_000377.3(WAS):c.397G>A (p.Glu133Lys)

SNV
Germline

ChrX:48685770

Pathogenic/Likely pathogenic

Wiskott-Aldrich syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA412867622

rs_2062417344

2 SubmittersRCV001090058

NM_022552.5(DNMT3A):c.1904G>A (p.Arg635Gln)

SNV
Germline

Chr2:25243930

Conflicting classifications of pathogenicity

Condition: not provided
Tatton-Brown-Rahman overgrowth syndrome

Criteria Provided
Conflicting Classifications

CA1555829

rs_751562376

4 SubmittersRCV001093354 RCV001384970

NM_000179.3(MSH6):c.3132C>A (p.Tyr1044Ter)

SNV
Germline

Chr2:47801115

Pathogenic

Condition: not provided
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346756667

rs_1669552731

2 SubmittersRCV001093450 RCV003455441

NM_014159.7(SETD2):c.1204C>T (p.Arg402Trp)

SNV
Germline

Chr3:47123432

Conflicting classifications of pathogenicity

Condition: not provided
Luscan-Lumish syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2363703

rs_779483918

3 SubmittersRCV001093071 RCV003591843 RCV004960442

NM_000540.3(RYR1):c.10049G>A (p.Arg3350Gln)

SNV
Germline

Chr19:38519244

Conflicting classifications of pathogenicity

Condition: not provided
RYR1-related disorder
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion
King Denborough syndrome
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA052265

rs_538500669

5 SubmittersRCV001093153 RCV001231239 RCV002482167 RCV005409773 RCV004000222

NM_000249.4(MLH1):c.2080G>T (p.Glu694Ter)

SNV
Germline

Chr3:37048994

Pathogenic

Lynch syndrome 1
Gastric cancer
Condition: not provided
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA032846

rs_147542208

6 SubmittersRCV001093683 RCV003160614 RCV001784646 RCV002418578 RCV003455442

NM_000249.4(MLH1):c.885-2A>C

SNV
Germline

Chr3:37020308

Likely pathogenic

Lynch syndrome 1

No Assertion Criteria Provided

CA352048322

rs_267607805

1 SubmittersRCV001093689

NM_000251.3(MSH2):c.2635-24A>G

SNV
Germline

Chr2:47482755

Pathogenic/Likely pathogenic

Lynch syndrome
Familial colorectal cancer
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA913189184

rs_1667575488

7 SubmittersRCV001171465 RCV001856289 RCV002256681 RCV002290600 RCV004702637

NM_000249.4(MLH1):c.1732-264A>T

SNV
Germline

Chr3:37047255

Likely pathogenic

Lynch syndrome
Familial colorectal cancer
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA1139657982

rs_2085261656

3 SubmittersRCV001171464 RCV001806025

NM_018344.6(SLC29A3):c.138C>T (p.Pro46=)

SNV
Germline

Chr10:71322892

Conflicting classifications of pathogenicity

H syndrome
SLC29A3-related disorder

Criteria Provided
Conflicting Classifications

CA5542827

rs_374417695

3 SubmittersRCV001104579 RCV003906199

NM_018344.6(SLC29A3):c.624C>T (p.Gly208=)

SNV
Germline

Chr10:71356094

Conflicting classifications of pathogenicity

H syndrome

Criteria Provided
Conflicting Classifications

CA5543000

rs_757865136

2 SubmittersRCV001107986

NM_018344.6(SLC29A3):c.1017A>G (p.Ser339=)

SNV
Germline

Chr10:71362197

Conflicting classifications of pathogenicity

H syndrome

Criteria Provided
Conflicting Classifications

CA470281228

rs_1847078623

2 SubmittersRCV001105840

NM_078470.6(COX15):c.495G>T (p.Leu165=)

SNV
Germline

Chr10:99727055

Conflicting classifications of pathogenicity

Leigh syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA471122730

rs_2036978379

2 SubmittersRCV001108830 RCV005093505

NM_078470.6(COX15):c.84A>G (p.Arg28=)

SNV
Germline

Chr10:99731966

Conflicting classifications of pathogenicity

Leigh syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5642380

rs_370595065

2 SubmittersRCV001103674 RCV002555014

NM_024426.6(WT1):c.1020C>T (p.His340=)

SNV
Germline

Chr11:32400041

Conflicting classifications of pathogenicity

Meacham syndrome
Wilms tumor 1
Nephrotic syndrome, type 4
Wilms tumor 1
11p partial monosomy syndrome
Drash syndrome
Frasier syndrome

Criteria Provided
Conflicting Classifications

CA064034

rs_375114529

3 SubmittersRCV001102604 RCV001102605 RCV001102606 RCV001499170

NM_024426.6(WT1):c.973G>A (p.Ala325Thr)

SNV
Germline

Chr11:32416533

Conflicting classifications of pathogenicity

Nephrotic syndrome, type 4
Wilms tumor 1
Meacham syndrome
Wilms tumor 1
11p partial monosomy syndrome
Frasier syndrome
Drash syndrome
6 conditions
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA379961874

rs_1712081462

5 SubmittersRCV001104525 RCV001104526 RCV001104527 RCV001856410 RCV005047310 RCV005298702

NM_024426.6(WT1):c.813G>C (p.Pro271=)

SNV
Germline

Chr11:32428030

Conflicting classifications of pathogenicity

Nephrotic syndrome, type 4
Meacham syndrome
Wilms tumor 1
not specified
Wilms tumor 1
11p partial monosomy syndrome
Frasier syndrome
Drash syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA473569728

rs_1341857958

5 SubmittersRCV001107286 RCV001107287 RCV001107285 RCV001553700 RCV001454642 RCV004963116

NM_007103.3(NDUFV1):c.-74T>C

SNV
Germline

Chr11:67606931

Conflicting classifications of pathogenicity

Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA224171197

rs_373383800

2 SubmittersRCV001102922 RCV001102923 RCV001568735

NM_007103.4(NDUFV1):c.1233C>T (p.Ser411=)

SNV
Germline

Chr11:67612190

Conflicting classifications of pathogenicity

Mitochondrial complex I deficiency, nuclear type 1
Leigh syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA475511102

rs_1854932368

2 SubmittersRCV001103128 RCV001103129 RCV003669187

NM_078470.6(COX15):c.832+9C>T

SNV
Germline

Chr10:99720978

Conflicting classifications of pathogenicity

Leigh syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5642165

rs_777349150

2 SubmittersRCV001108826 RCV003769111

NM_007103.4(NDUFV1):c.1308+7A>T

SNV
Germline

Chr11:67612272

Conflicting classifications of pathogenicity

Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6143475

rs_767679135

2 SubmittersRCV001105041 RCV001105042 RCV002558047

NM_015272.5(RPGRIP1L):c.3331G>A (p.Ala1111Thr)

SNV
Germline

Chr16:53622320

Conflicting classifications of pathogenicity

Meckel syndrome, type 5
Joubert syndrome 7
Nephronophthisis 8
Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3
Condition: not provided
RPGRIP1L-related disorder
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA281358352

rs_973841786

6 SubmittersRCV001116968 RCV001116969 RCV001116970 RCV001856535 RCV002491365 RCV003425936 RCV004733161 RCV004813782

NM_004589.4(SCO1):c.16C>T (p.Leu6=)

SNV
Germline

Chr17:10697492

Conflicting classifications of pathogenicity

Leigh syndrome
Mitochondrial complex IV deficiency, nuclear type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8393733

rs_61753148

2 SubmittersRCV001124544 RCV001124543 RCV002558228

NM_001303.4(COX10):c.1305C>T (p.Gly435=)

SNV
Germline

Chr17:14207186

Conflicting classifications of pathogenicity

Leigh syndrome
Mitochondrial complex IV deficiency, nuclear type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8402607

rs_199737206

2 SubmittersRCV001122056 RCV001122057 RCV002556626

NM_001303.4(COX10):c.*305A>G

SNV
Germline

Chr17:14207518

Conflicting classifications of pathogenicity

Leigh syndrome
Mitochondrial complex IV deficiency, nuclear type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA288081256

rs_143758001

2 SubmittersRCV001124825 RCV001124826 RCV003405332

NM_001303.4(COX10):c.*904C>G

SNV
Germline

Chr17:14208117

Conflicting classifications of pathogenicity

Mitochondrial complex IV deficiency, nuclear type 1
Leigh syndrome

Criteria Provided
Conflicting Classifications

CA288081799

rs_75839697

1 SubmittersRCV001125912 RCV001125911

NM_001303.4(COX10):c.*1079G>A

SNV
Germline

Chr17:14208292

Conflicting classifications of pathogenicity

Mitochondrial complex IV deficiency, nuclear type 1
Leigh syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA288081928

rs_116445114

2 SubmittersRCV001122250 RCV001122251 RCV001779119

NM_001303.4(COX10):c.*1267A>G

SNV
Germline

Chr17:14208480

Conflicting classifications of pathogenicity

Mitochondrial complex IV deficiency, nuclear type 1
Leigh syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA288082058

rs_75844637

2 SubmittersRCV001122254 RCV001122255 RCV001786437

NM_001303.4(COX10):c.*1383G>A

SNV
Germline

Chr17:14208596

Conflicting classifications of pathogenicity

Mitochondrial complex IV deficiency, nuclear type 1
Leigh syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA288082146

rs_145948022

2 SubmittersRCV001125028 RCV001125029 RCV001836945

NM_024407.5(NDUFS7):c.158C>T (p.Ala53Val)

SNV
Germline

Chr19:1388868

Conflicting classifications of pathogenicity

Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 1
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9043133

rs_565395435

3 SubmittersRCV001123145 RCV001123146 RCV002556658 RCV003339513

NM_024407.5(NDUFS7):c.525C>T (p.Pro175=)

SNV
Germline

Chr19:1393311

Conflicting classifications of pathogenicity

Mitochondrial complex I deficiency, nuclear type 1
Leigh syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9043424

rs_757488156

3 SubmittersRCV001124231 RCV001124232 RCV001569783

NM_024407.5(NDUFS7):c.455+13C>T

SNV
Germline

Chr19:1391178

Conflicting classifications of pathogenicity

Mitochondrial complex I deficiency, nuclear type 1
Leigh syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9043387

rs_376025020

2 SubmittersRCV001124228 RCV001124230 RCV002558225

NM_005006.7(NDUFS1):c.*426T>G

SNV
Germline

Chr2:206123759

Conflicting classifications of pathogenicity

Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA63645927

rs_114402169

2 SubmittersRCV001138693 RCV001138694 RCV001856776

NM_005006.7(NDUFS1):c.*341A>G

SNV
Germline

Chr2:206123844

Conflicting classifications of pathogenicity

Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA63645950

rs_150214409

2 SubmittersRCV001141271 RCV001141270 RCV001786443

NM_005006.7(NDUFS1):c.1969G>A (p.Asp657Asn)

SNV
Germline

Chr2:206126760

Conflicting classifications of pathogenicity

Mitochondrial complex I deficiency, nuclear type 1
Inborn genetic diseases
Leigh syndrome

Criteria Provided
Conflicting Classifications

CA2070312

rs_769276632

2 SubmittersRCV001136552 RCV002558295 RCV001136551

NM_005006.7(NDUFS1):c.768G>A (p.Ala256=)

SNV
Germline

Chr2:206144996

Conflicting classifications of pathogenicity

Mitochondrial complex I deficiency, nuclear type 1
Leigh syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2070657

rs_148726142

2 SubmittersRCV001136655 RCV001136656 RCV002556902

NM_005006.7(NDUFS1):c.63T>C (p.Val21=)

SNV
Germline

Chr2:206152509

Conflicting classifications of pathogenicity

Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2070912

rs_756632601

2 SubmittersRCV001143331 RCV001143332 RCV002070724

NM_005006.7(NDUFS1):c.-64T>C

SNV
Germline

Chr2:206159400

Conflicting classifications of pathogenicity

Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 1

Criteria Provided
Conflicting Classifications

CA63679006

rs_145023130

1 SubmittersRCV001138992 RCV001138991

NM_005006.7(NDUFS1):c.-75A>G

SNV
Germline

Chr2:206159411

Conflicting classifications of pathogenicity

Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA63679024

rs_138818421

3 SubmittersRCV001138995 RCV001138996 RCV003438669

NM_005006.7(NDUFS1):c.-76G>A

SNV
Germline

Chr2:206159412

Conflicting classifications of pathogenicity

Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA63679027

rs_116137442

2 SubmittersRCV001141606 RCV001141607 RCV001786444

NM_004544.4(NDUFA10):c.*2133A>G

SNV
Germline

Chr2:239958985

Conflicting classifications of pathogenicity

Mitochondrial complex I deficiency, nuclear type 1
Leigh syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA68047691

rs_6736791

2 SubmittersRCV001139764 RCV001139765 RCV002221610

NM_004544.4(NDUFA10):c.*1930C>G

SNV
Germline

Chr2:239959188

Conflicting classifications of pathogenicity

Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 1

Criteria Provided
Conflicting Classifications

CA68047822

rs_535714073

1 SubmittersRCV001142384 RCV001142385

NM_004544.4(NDUFA10):c.*1453G>A

SNV
Germline

Chr2:239959665

Conflicting classifications of pathogenicity

Mitochondrial complex I deficiency, nuclear type 1
Leigh syndrome

Criteria Provided
Conflicting Classifications

CA68048052

rs_192964209

1 SubmittersRCV001140649 RCV001140650

NM_004544.4(NDUFA10):c.*679A>G

SNV
Germline

Chr2:239960439

Conflicting classifications of pathogenicity

Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 1

Criteria Provided
Conflicting Classifications

CA68048533

rs_374065697

1 SubmittersRCV001140110 RCV001140109

NM_004544.4(NDUFA10):c.*428C>T

SNV
Germline

Chr2:239960690

Conflicting classifications of pathogenicity

Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 1

Criteria Provided
Conflicting Classifications

CA68048797

rs_557106858

1 SubmittersRCV001142724 RCV001142725

NM_004544.4(NDUFA10):c.*183C>T

SNV
Germline

Chr2:239960935

Conflicting classifications of pathogenicity

Mitochondrial complex I deficiency, nuclear type 1
Leigh syndrome

Criteria Provided
Conflicting Classifications

CA68048980

rs_112660586

1 SubmittersRCV001138395 RCV001138396

NM_004544.4(NDUFA10):c.630C>T (p.Pro210=)

SNV
Germline

Chr2:240014778

Conflicting classifications of pathogenicity

Mitochondrial complex I deficiency, nuclear type 1
Leigh syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2200936

rs_148656779

2 SubmittersRCV001138078 RCV001138079 RCV002070620

NM_004544.4(NDUFA10):c.354C>T (p.Tyr118=)

SNV
Germline

Chr2:240021303

Conflicting classifications of pathogenicity

Mitochondrial complex I deficiency, nuclear type 1
Leigh syndrome
NDUFA10-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2201081

rs_118106981

4 SubmittersRCV001141071 RCV001141072 RCV003928737 RCV002285448

NM_004544.4(NDUFA10):c.41C>G (p.Ser14Cys)

SNV
Germline

Chr2:240025261

Conflicting classifications of pathogenicity

Mitochondrial complex I deficiency, nuclear type 1
Leigh syndrome
Inborn genetic diseases
Mitochondrial complex I deficiency, nuclear type 22

Criteria Provided
Conflicting Classifications

CA68073082

rs_928084265

3 SubmittersRCV001138192 RCV001138193 RCV004032319 RCV005394759

NM_000251.3(MSH2):c.562G>A (p.Glu188Lys)

SNV
Germline

Chr2:47410289

Conflicting classifications of pathogenicity

Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346730917

rs_1064795622

3 SubmittersRCV001137125 RCV002556914 RCV003353170

NM_000251.3(MSH2):c.*47G>A

SNV
Germline

Chr2:47482996

Conflicting classifications of pathogenicity

Lynch syndrome 1
not specified

Criteria Provided
Conflicting Classifications

CA532705248

rs_1196239075

2 SubmittersRCV001137349 RCV003320805

NM_000179.3(MSH6):c.2356T>C (p.Tyr786His)

SNV
Germline

Chr2:47800339

Conflicting classifications of pathogenicity

Lynch syndrome 5
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA068860

rs_773193199

4 SubmittersRCV001140445 RCV002445397 RCV001362434 RCV003462638

NC_000021.9:g.45405398C>T

SNV
Germline

Chr21:45405398

Conflicting classifications of pathogenicity

Knobloch syndrome
Condition: not provided
Knobloch syndrome 1
COL18A1-related disorder

Criteria Provided
Conflicting Classifications

CA10065181

rs_754075778

5 SubmittersRCV001139084 RCV001856784 RCV004726898 RCV004740586

NC_000021.9:g.45405463C>T

SNV
Germline

Chr21:45405463

Conflicting classifications of pathogenicity

Knobloch syndrome
Condition: not provided
COL18A1-related disorder

Criteria Provided
Conflicting Classifications

CA10065185

rs_772492972

3 SubmittersRCV001139085 RCV001490069 RCV004740587

NM_001379500.1(COL18A1):c.291C>T (p.His97=)

SNV
Germline

Chr21:45468426

Conflicting classifications of pathogenicity

Knobloch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA512708398

rs_1272002645

2 SubmittersRCV001141698 RCV003679042

NM_001379500.1(COL18A1):c.578G>A (p.Arg193Gln)

SNV
Germline

Chr21:45468713

Conflicting classifications of pathogenicity

Knobloch syndrome
Condition: not provided
not specified
COL18A1-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10065787

rs_2236453

5 SubmittersRCV001141700 RCV001520163 RCV005438057 RCV004548021 RCV003293899

NM_001379500.1(COL18A1):c.855G>A (p.Leu285=)

SNV
Germline

Chr21:45476407

Conflicting classifications of pathogenicity

Knobloch syndrome
Condition: not provided
COL18A1-related disorder

Criteria Provided
Conflicting Classifications

CA10065968

rs_754187386

3 SubmittersRCV001139193 RCV002070646 RCV004740588

NM_001379500.1(COL18A1):c.873G>A (p.Thr291=)

SNV
Germline

Chr21:45476425

Conflicting classifications of pathogenicity

Knobloch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10065973

rs_183924183

2 SubmittersRCV001139194 RCV002070647

NM_001379500.1(COL18A1):c.1008C>T (p.Gly336=)

SNV
Germline

Chr21:45477752

Conflicting classifications of pathogenicity

Knobloch syndrome
Condition: not provided
COL18A1-related disorder

Criteria Provided
Conflicting Classifications

CA10066060

rs_372133935

3 SubmittersRCV001139196 RCV002070648 RCV004548015

NM_001379500.1(COL18A1):c.1323G>A (p.Gly441=)

SNV
Germline

Chr21:45480081

Conflicting classifications of pathogenicity

Knobloch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10066261

rs_201380467

2 SubmittersRCV001143618 RCV002070728

NM_001379500.1(COL18A1):c.1542C>T (p.Asp514=)

SNV
Germline

Chr21:45480789

Conflicting classifications of pathogenicity

Condition: not provided
Knobloch syndrome

Criteria Provided
Conflicting Classifications

CA10066383

rs_200106008

2 SubmittersRCV001521427 RCV001137046

NM_001379500.1(COL18A1):c.2178G>A (p.Pro726=)

SNV
Germline

Chr21:45492555

Conflicting classifications of pathogenicity

Knobloch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10066874

rs_556113991

2 SubmittersRCV001139405 RCV002070656

NM_001379500.1(COL18A1):c.2388C>T (p.Tyr796=)

SNV
Germline

Chr21:45494870

Conflicting classifications of pathogenicity

Knobloch syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10067064

rs_139122081

5 SubmittersRCV001142029 RCV001700978 RCV001516386

NM_001379500.1(COL18A1):c.2490C>T (p.Ser830=)

SNV
Germline

Chr21:45495414

Conflicting classifications of pathogenicity

Condition: not provided
Knobloch syndrome

Criteria Provided
Conflicting Classifications

CA10067116

rs_377601838

2 SubmittersRCV001521557 RCV001143837

NM_001379500.1(COL18A1):c.2568C>T (p.Tyr856=)

SNV
Germline

Chr21:45496559

Conflicting classifications of pathogenicity

Condition: not provided
Knobloch syndrome

Criteria Provided
Conflicting Classifications

CA10067181

rs_376919554

2 SubmittersRCV002070733 RCV001143839

NM_001379500.1(COL18A1):c.2601C>T (p.Pro867=)

SNV
Germline

Chr21:45497073

Conflicting classifications of pathogenicity

Knobloch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10067221

rs_374530279

2 SubmittersRCV001143840 RCV002070734

NM_001379500.1(COL18A1):c.2781C>G (p.Pro927=)

SNV
Germline

Chr21:45504469

Conflicting classifications of pathogenicity

Knobloch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10067463

rs_11544970

2 SubmittersRCV001137274 RCV003688914

NM_001379500.1(COL18A1):c.1674+15G>A

SNV
Germline

Chr21:45482040

Conflicting classifications of pathogenicity

Knobloch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10066443

rs_201043325

2 SubmittersRCV001139293 RCV002070653

NM_001379500.1(COL18A1):c.1702-4G>A

SNV
Germline

Chr21:45486857

Conflicting classifications of pathogenicity

Knobloch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA321918459

rs_376187378

2 SubmittersRCV001139296 RCV001504312

NM_001379500.1(COL18A1):c.1834-15G>A

SNV
Germline

Chr21:45487432

Conflicting classifications of pathogenicity

Knobloch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10066569

rs_191917454

2 SubmittersRCV001141914 RCV002070701

NM_001379500.1(COL18A1):c.2068-7C>T

SNV
Germline

Chr21:45491218

Conflicting classifications of pathogenicity

Knobloch syndrome
Condition: not provided
COL18A1-related disorder

Criteria Provided
Conflicting Classifications

CA10066792

rs_369084150

3 SubmittersRCV001143720 RCV001454663 RCV004548028

NM_001379500.1(COL18A1):c.2157+13C>T

SNV
Germline

Chr21:45491327

Conflicting classifications of pathogenicity

Knobloch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10066835

rs_772102800

2 SubmittersRCV001137168 RCV002070601

NM_001379500.1(COL18A1):c.2214+15G>A

SNV
Germline

Chr21:45492728

Conflicting classifications of pathogenicity

Knobloch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA512686615

rs_368257475

2 SubmittersRCV001139406 RCV002070657

NM_001379500.1(COL18A1):c.2434-4C>G

SNV
Germline

Chr21:45495354

Conflicting classifications of pathogenicity

Knobloch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA638164665

rs_1392844393

2 SubmittersRCV001142032 RCV002070703

NM_000249.4(MLH1):c.91G>T (p.Ala31Ser)

SNV
Germline

Chr3:36993638

Conflicting classifications of pathogenicity

Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA039006

rs_749671520

6 SubmittersRCV001149362 RCV001469803 RCV002375041 RCV003117786 RCV004000255

NM_001378615.1(CC2D2A):c.1730C>T (p.Ser577Leu)

SNV
Germline

Chr4:15537042

Conflicting classifications of pathogenicity

Joubert syndrome 9
Meckel syndrome, type 6
Joubert syndrome
Meckel-Gruber syndrome
Inborn genetic diseases
Meckel syndrome, type 6
COACH syndrome 2
Joubert syndrome 9
Retinitis pigmentosa 93
CC2D2A-related disorder

Criteria Provided
Conflicting Classifications

CA2863744

rs_543650388

5 SubmittersRCV001145127 RCV001145126 RCV002032368 RCV002557107 RCV005029722 RCV004528397

NM_006941.4(SOX10):c.-166C>T

SNV
Germline

Chr22:37984420

Conflicting classifications of pathogenicity

PCWH syndrome
Waardenburg syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA324166956

rs_548479592

2 SubmittersRCV001144528 RCV001144529 RCV004809025

NM_004168.4(SDHA):c.*249T>C

SNV
Germline

Chr5:256669

Conflicting classifications of pathogenicity

Hereditary pheochromocytoma-paraganglioma
Mitochondrial complex II deficiency, nuclear type 1
Leigh syndrome

Criteria Provided
Conflicting Classifications

CA112784663

rs_189989110

1 SubmittersRCV001153828 RCV001153829 RCV001153830

NM_174889.5(NDUFAF2):c.423A>G (p.Glu141=)

SNV
Germline

Chr5:61152868

Conflicting classifications of pathogenicity

Mitochondrial complex I deficiency, nuclear type 1
Leigh syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3278197

rs_550008432

3 SubmittersRCV001152461 RCV001152462 RCV001712860

NM_004168.4(SDHA):c.896-11G>T

SNV
Germline

Chr5:233466

Conflicting classifications of pathogenicity

Hereditary pheochromocytoma-paraganglioma
Leigh syndrome
Mitochondrial complex II deficiency, nuclear type 1
Hereditary cancer-predisposing syndrome
Pheochromocytoma/paraganglioma syndrome 5

Criteria Provided
Conflicting Classifications

CA3173036

rs_774043076

3 SubmittersRCV001157734 RCV001157733 RCV001157735 RCV002256692 RCV005423854

NM_000108.5(DLD):c.30C>A (p.Ser10=)

SNV
Germline

Chr7:107891280

Conflicting classifications of pathogenicity

Pyruvate dehydrogenase complex deficiency
Pyruvate dehydrogenase E3 deficiency
Leigh syndrome

Criteria Provided
Conflicting Classifications

CA164237587

rs_779166996

2 SubmittersRCV001163466 RCV001163465 RCV001163467

NM_000108.5(DLD):c.*1640A>G

SNV
Germline

Chr7:107920899

Conflicting classifications of pathogenicity

Pyruvate dehydrogenase E3 deficiency
Pyruvate dehydrogenase complex deficiency
Leigh syndrome

Criteria Provided
Conflicting Classifications

CA164262766

rs_148148357

1 SubmittersRCV001164388 RCV001164389 RCV001164390

NM_000108.5(DLD):c.*1876G>A

SNV
Germline

Chr7:107921135

Conflicting classifications of pathogenicity

Leigh syndrome
Pyruvate dehydrogenase complex deficiency
Pyruvate dehydrogenase E3 deficiency

Criteria Provided
Conflicting Classifications

CA164262843

rs_142001971

1 SubmittersRCV001160821 RCV001160822 RCV001160823

NM_000535.7(PMS2):c.636G>A (p.Gln212=)

SNV
Germline

Chr7:5999177

Conflicting classifications of pathogenicity

Lynch syndrome 4
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA453646931

rs_1784804225

3 SubmittersRCV001164300 RCV002355129

NM_003172.4(SURF1):c.*47G>A

SNV
Germline

Chr9:133351866

Conflicting classifications of pathogenicity

Leigh syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA200831828

rs_138050767

2 SubmittersRCV001165818 RCV001562775

NM_003172.4(SURF1):c.801G>A (p.Leu267=)

SNV
Germline

Chr9:133352093

Conflicting classifications of pathogenicity

Leigh syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA200832054

rs_782120692

3 SubmittersRCV001165820 RCV003433068

NM_003172.4(SURF1):c.507C>T (p.Thr169=)

SNV
Germline

Chr9:133353757

Conflicting classifications of pathogenicity

Leigh syndrome
SURF1-related disorder

Criteria Provided
Conflicting Classifications

CA200832954

rs_782614599

3 SubmittersRCV001168008 RCV004554848

NM_003172.4(SURF1):c.226T>C (p.Leu76=)

SNV
Germline

Chr9:133354838

Conflicting classifications of pathogenicity

Leigh syndrome

Criteria Provided
Conflicting Classifications

CA200833476

rs_782036327

2 SubmittersRCV001168782

NM_003172.4(SURF1):c.106+15C>G

SNV
Germline

Chr9:133356254

Conflicting classifications of pathogenicity

Leigh syndrome

Criteria Provided
Conflicting Classifications

CA200834037

rs_781892153

2 SubmittersRCV001165890

NM_001379500.1(COL18A1):c.1876C>T (p.Arg626Ter)

SNV
Unknown

Chr21:45487489

Likely pathogenic

Knobloch syndrome

Criteria Provided
Single Submitter

CA321918562

rs_753935209

1 SubmittersRCV001170051

NM_006941.4(SOX10):c.425G>C (p.Trp142Ser)

SNV
Germline

Chr22:37983360

Pathogenic

PCWH syndrome

No Assertion Criteria Provided

CA411499989

rs_886039664

1 SubmittersRCV001170070

NM_000251.3(MSH2):c.-10A>C

SNV
Germline

Chr2:47403182

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA1139656921

rs_765201464

3 SubmittersRCV001183150 RCV001876088 RCV005601691

NM_000251.3(MSH2):c.247A>C (p.Met83Leu)

SNV
Germline

Chr2:47408436

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA036212

rs_766196837

4 SubmittersRCV001303509 RCV001178226 RCV003462650

NM_000251.3(MSH2):c.263T>C (p.Phe88Ser)

SNV
Germline

Chr2:47408452

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346729557

rs_1672553516

5 SubmittersRCV001303579 RCV001180255 RCV003478710 RCV004807352

NM_000251.3(MSH2):c.338A>G (p.Lys113Arg)

SNV
Germline

Chr2:47408527

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Muir-Torré syndrome
Mismatch repair cancer syndrome 2

Criteria Provided
Conflicting Classifications

CA346730031

rs_1672561938

4 SubmittersRCV001184619 RCV001876145 RCV005359910

NM_000251.3(MSH2):c.423G>A (p.Met141Ile)

SNV
Germline

Chr2:47410150

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346730442

rs_1672660061

4 SubmittersRCV001192280 RCV002560150 RCV004010591

NM_000251.3(MSH2):c.776C>T (p.Pro259Leu)

SNV
Germline

Chr2:47412544

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided

Criteria Provided
Conflicting Classifications

CA346732454

rs_866818044

5 SubmittersRCV001177728 RCV004006403 RCV001875856 RCV003478706

NM_000251.3(MSH2):c.1090G>T (p.Glu364Ter)

SNV
Germline

Chr2:47429755

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346733545

rs_1558478136

4 SubmittersRCV001186447 RCV002559937 RCV003449608

NM_000251.3(MSH2):c.1321A>T (p.Thr441Ser)

SNV
Germline

Chr2:47445592

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346724617

rs_587779086

5 SubmittersRCV001188997 RCV001859134 RCV003462663 RCV004010323

NM_000251.3(MSH2):c.1444A>G (p.Arg482Gly)

SNV
Germline

Chr2:47463088

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346726909

rs_587779092

3 SubmittersRCV001190620 RCV002560088 RCV004010447

NM_000251.3(MSH2):c.1840G>T (p.Gly614Ter)

SNV
Germline

Chr2:47475105

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346728396

rs_1380847972

4 SubmittersRCV001188274 RCV002560014 RCV003449614

NM_000251.3(MSH2):c.2572G>T (p.Gly858Ter)

SNV
Germline

Chr2:47480809

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346730958

rs_754533481

2 SubmittersRCV001185403 RCV003449604

NM_000251.3(MSH2):c.2632G>C (p.Glu878Gln)

SNV
Germline

Chr2:47480869

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA036897

rs_749543152

4 SubmittersRCV001181940 RCV001876045 RCV004807364

NM_000251.3(MSH2):c.2794G>A (p.Val932Ile)

SNV
Germline

Chr2:47482938

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346732255

rs_1172428337

4 SubmittersRCV001185463 RCV001862914 RCV004807396

NM_000179.3(MSH6):c.1816A>G (p.Lys606Glu)

SNV
Germline

Chr2:47799799

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346749421

rs_1478102899

5 SubmittersRCV001187057 RCV001223021 RCV003469305 RCV004008659

NM_000179.3(MSH6):c.3132C>G (p.Tyr1044Ter)

SNV
Germline

Chr2:47801115

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346756668

rs_1669552731

4 SubmittersRCV001190006 RCV001859140 RCV003449617

NM_000179.3(MSH6):c.*5A>G

SNV
Germline

Chr2:47806865

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA532354413

rs_1162814122

2 SubmittersRCV001175970 RCV005423857

NM_000249.4(MLH1):c.-15T>C

SNV
Germline

Chr3:36993533

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA029834

rs_764112241

3 SubmittersRCV001176248 RCV004000331

NM_000249.4(MLH1):c.1231A>G (p.Ile411Val)

SNV
Germline

Chr3:37025829

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA027821

rs_535470039

4 SubmittersRCV001186635 RCV002559943 RCV004807409

NM_000249.4(MLH1):c.*1A>G

SNV
Germline

Chr3:37050654

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA913188141

rs_2085658957

4 SubmittersRCV001181589 RCV005245744 RCV004006749 RCV004695127

NM_000535.7(PMS2):c.1570C>T (p.Pro524Ser)

SNV
Germline

Chr7:5987195

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA044470

rs_756127972

3 SubmittersRCV001181987 RCV004807366

NM_000535.7(PMS2):c.613C>T (p.Gln205Ter)

SNV
Germline

Chr7:5999200

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Mismatch repair cancer syndrome 4
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA050615

rs_758250810

8 SubmittersRCV001192082 RCV001269755 RCV001859159 RCV003388604 RCV003449623

NM_000251.3(MSH2):c.1662-4G>A

SNV
Germline

Chr2:47470961

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA532342529

rs_1456908037

4 SubmittersRCV001181151 RCV001460189 RCV005245743

NM_000535.7(PMS2):c.24-1G>A

SNV
Germline

Chr7:6006032

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366745208

rs_1785723689

3 SubmittersRCV001186032 RCV003449605

NM_000251.3(MSH2):c.645+6C>T

SNV
Germline

Chr2:47410378

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA532704954

rs_1206136415

3 SubmittersRCV001178007 RCV001238295 RCV005245729

NM_000251.3(MSH2):c.1386+6C>T

SNV
Germline

Chr2:47445663

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA913187907

rs_1675077236

3 SubmittersRCV001179425 RCV003769945 RCV005245736

NM_000179.3(MSH6):c.458-4C>T

SNV
Germline

Chr2:47795890

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA913188005

rs_748645037

3 SubmittersRCV001191406 RCV001469571 RCV005423912

NM_000251.3(MSH2):c.793-3T>C

SNV
Germline

Chr2:47414266

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA913187991

rs_1672942991

4 SubmittersRCV001183089 RCV002559043 RCV005245751

NM_000251.3(MSH2):c.1386+2T>C

SNV
Germline

Chr2:47445659

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346724857

rs_1675076969

4 SubmittersRCV001186193 RCV001284006 RCV003449606

NM_000179.3(MSH6):c.3647-1G>C

SNV
Germline

Chr2:47806203

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346760810

rs_587779279

4 SubmittersRCV001190323 RCV001382590 RCV003449622

NM_000179.3(MSH6):c.3646+9T>C

SNV
Germline

Chr2:47805716

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA769464865

rs_1431782575

4 SubmittersRCV001191421 RCV001284018 RCV002560975 RCV005428129

NM_000535.7(PMS2):c.705+2T>C

SNV
Germline

Chr7:5999106

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 4
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA366743803

rs_1784783734

6 SubmittersRCV001380257 RCV001780095 RCV003449589 RCV001179571

NM_000535.7(PMS2):c.538-2A>C

SNV
Germline

Chr7:5999277

Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Mismatch repair cancer syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366744141

rs_758304323

2 SubmittersRCV001189613 RCV002497660

NM_000251.3(MSH2):c.1609A>T (p.Lys537Ter)

SNV
Germline

Chr2:47466756

Pathogenic

Hereditary nonpolyposis colon cancer
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346727910

rs_980244810

3 SubmittersRCV001193244 RCV002393445 RCV003449627

NM_000251.3(MSH2):c.2066C>A (p.Ala689Asp)

SNV
Germline

Chr2:47476427

Conflicting classifications of pathogenicity

not specified
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346729174

rs_1060502020

4 SubmittersRCV001193850 RCV001863062 RCV002418650 RCV003449628

NM_000179.3(MSH6):c.1357A>T (p.Lys453Ter)

SNV
Germline

Chr2:47799340

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colon cancer
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346744724

rs_1669323917

2 SubmittersRCV001192422 RCV003449624

NM_003172.4(SURF1):c.834G>A (p.Trp278Ter)

SNV
Germline

Chr9:133351982

Pathogenic

Leigh syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA200831946

rs_782601312

2 SubmittersRCV001193157

NM_015272.5(RPGRIP1L):c.1804C>T (p.Arg602Ter)

SNV
Germline

Chr16:53652883

Pathogenic/Likely pathogenic

Joubert syndrome 7
Joubert syndrome and related disorders
Meckel-Gruber syndrome
Joubert syndrome
Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA8057699

rs_745413543

4 SubmittersRCV001199008 RCV002509625 RCV001241219 RCV005012592

NM_015272.5(RPGRIP1L):c.751C>T (p.Arg251Ter)

SNV
Germline

Chr16:53686458

Pathogenic/Likely pathogenic

Joubert syndrome 7
Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome and related disorders
RPGRIP1L-related disorder
Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA281371218

rs_993394322

5 SubmittersRCV001198756 RCV001225531 RCV002265959 RCV004538435 RCV005021492

NM_003172.4(SURF1):c.243C>G (p.Val81=)

SNV
Germline

Chr9:133354739

Conflicting classifications of pathogenicity

Condition: not provided
Leigh syndrome

Criteria Provided
Conflicting Classifications

CA860710379

rs_1277150134

2 SubmittersRCV001200195 RCV005094064

NM_000251.3(MSH2):c.1384C>G (p.Gln462Glu)

SNV
Germline

Chr2:47445655

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA346724844

rs_876657701

4 SubmittersRCV001664761 RCV002379829 RCV004010728 RCV001219639

NM_000251.3(MSH2):c.1667T>A (p.Leu556Ter)

SNV
Germline

Chr2:47470970

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346728043

rs_587779101

3 SubmittersRCV001225114 RCV002402705 RCV003449713

NM_000251.3(MSH2):c.1721A>C (p.Gln574Pro)

SNV
Germline

Chr2:47471024

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346728161

rs_1667078647

3 SubmittersRCV001221997 RCV002402680 RCV003449701

NM_000179.3(MSH6):c.1281C>A (p.Tyr427Ter)

SNV
Germline

Chr2:47799264

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346744120

rs_1553412720

4 SubmittersRCV002379819 RCV001217699 RCV004570494 RCV003449686

NM_000179.3(MSH6):c.1559G>A (p.Gly520Asp)

SNV
Germline

Chr2:47799542

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Lynch syndrome 5
Mismatch repair cancer syndrome 3
Lynch syndrome 5
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346746712

rs_1669344619

4 SubmittersRCV001223696 RCV005394840 RCV003449707 RCV002402694

NM_000179.3(MSH6):c.3266T>C (p.Leu1089Ser)

SNV
Germline

Chr2:47803513

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA346758184

rs_1669748364

3 SubmittersRCV001223215 RCV002322081 RCV001253751

NM_000179.3(MSH6):c.3377A>C (p.Lys1126Thr)

SNV
Germline

Chr2:47803624

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA46716079

rs_766608409

3 SubmittersRCV004649502 RCV001217550 RCV004803574

NM_000535.7(PMS2):c.485T>A (p.Leu162Ter)

SNV
Germline

Chr7:6002505

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366744259

rs_1785199575

4 SubmittersRCV001216994 RCV002339568 RCV003449684

NM_024426.6(WT1):c.273G>A (p.Leu91=)

SNV
Germline

Chr11:32435088

Conflicting classifications of pathogenicity

Inborn genetic diseases
Hereditary cancer-predisposing syndrome
Drash syndrome
Frasier syndrome
Wilms tumor 1
11p partial monosomy syndrome
Wilms tumor 1

Criteria Provided
Conflicting Classifications

CA473773980

rs_1396104394

4 SubmittersRCV004963232 RCV002258165 RCV001220883 RCV004010738

NM_000540.3(RYR1):c.7029C>T (p.Gly2343=)

SNV
Germline

Chr19:38499636

Conflicting classifications of pathogenicity

RYR1-related disorder
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
Congenital myopathy with fiber type disproportion
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA069044

rs_138617219

3 SubmittersRCV001217935 RCV002504268 RCV005402988

NM_000540.3(RYR1):c.7858C>T (p.Gln2620Ter)

SNV
Germline

Chr19:38502902

Conflicting classifications of pathogenicity

Central core myopathy
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
Congenital multicore myopathy with external ophthalmoplegia
Condition: not provided
Malignant hyperthermia, susceptibility to, 1
Central core myopathy
RYR1-related disorder

Criteria Provided
Conflicting Classifications

CA082877

rs_1365856881

7 SubmittersRCV005005088 RCV001780144 RCV004803576 RCV003156321 RCV001219907

NM_000377.3(WAS):c.121C>T (p.Arg41Ter)

SNV
Germline

ChrX:48683974

Pathogenic

X-linked severe congenital neutropenia
Thrombocytopenia 1
Wiskott-Aldrich syndrome
WAS-related disorder

Criteria Provided
Single Submitter

CA329099985

rs_11545907

2 SubmittersRCV001216267 RCV003908449

NM_000251.3(MSH2):c.2138G>T (p.Gly713Val)

SNV
Germline

Chr2:47476499

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA034338

rs_753555602

3 SubmittersRCV001206853 RCV002429884 RCV004010654

NM_000251.3(MSH2):c.2593A>G (p.Ile865Val)

SNV
Germline

Chr2:47480830

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA46707997

rs_1013401625

4 SubmittersRCV001213246 RCV002258160 RCV003462715

NM_000251.3(MSH2):c.2613G>T (p.Lys871Asn)

SNV
Germline

Chr2:47480850

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346731128

rs_1156823520

3 SubmittersRCV001204232 RCV003163542 RCV005601704

NM_000179.3(MSH6):c.2919T>C (p.Gly973=)

SNV
Germline

Chr2:47800902

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA426122044

rs_1057522150

5 SubmittersRCV001205054 RCV002436789 RCV002469351 RCV005423924

NM_000179.3(MSH6):c.3555A>C (p.Ser1185=)

SNV
Germline

Chr2:47805026

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA425997252

rs_1669881416

2 SubmittersRCV001203597 RCV004010629

NM_014159.7(SETD2):c.7660G>A (p.Val2554Ile)

SNV
Germline

Chr3:47017128

Conflicting classifications of pathogenicity

Inborn genetic diseases
not specified
Luscan-Lumish syndrome

Criteria Provided
Conflicting Classifications

CA2362457

rs_768564000

3 SubmittersRCV002561689 RCV003317449 RCV001208523

NM_001378615.1(CC2D2A):c.2774G>C (p.Arg925Pro)

SNV
Germline

Chr4:15557452

Pathogenic/Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome
Retinitis pigmentosa 93
Meckel syndrome, type 6
Joubert syndrome 9
COACH syndrome 2
Retinitis pigmentosa 93

Criteria Provided
Multiple Submitters
No Conflicts

CA2864003

rs_200707391

3 SubmittersRCV001207137 RCV002251560 RCV005029754

NM_000535.7(PMS2):c.2041C>T (p.Gln681Ter)

SNV
Germline

Chr7:5982957

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
PMS2-related disorder
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366738126

rs_1782465728

4 SubmittersRCV001210495 RCV002418714 RCV003398939 RCV005245790

NM_000535.7(PMS2):c.705G>C (p.Gln235His)

SNV
Germline

Chr7:5999108

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA366743808

rs_876660872

3 SubmittersRCV001202125 RCV002365906 RCV005428135

NM_024426.6(WT1):c.1013G>A (p.Ser338Asn)

SNV
Germline

Chr11:32416493

Conflicting classifications of pathogenicity

Drash syndrome
Wilms tumor 1
11p partial monosomy syndrome
Frasier syndrome
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA066015

rs_748112905

3 SubmittersRCV001208500 RCV001776144 RCV005298723

NM_000377.3(WAS):c.142A>C (p.Thr48Pro)

SNV
Germline

ChrX:48684292

Likely pathogenic

Thrombocytopenia 1
X-linked severe congenital neutropenia
Wiskott-Aldrich syndrome

Criteria Provided
Single Submitter

CA412866088

rs_2062412197

1 SubmittersRCV001204405

NM_000377.3(WAS):c.256C>T (p.Arg86Cys)

SNV
Germline

ChrX:48684406

Pathogenic

Thrombocytopenia 1
X-linked severe congenital neutropenia
Wiskott-Aldrich syndrome
Wiskott-Aldrich syndrome
WAS-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA412866620

rs_2062412810

4 SubmittersRCV001205113 RCV001328370 RCV003938561

NM_000251.3(MSH2):c.212-2A>T

SNV
Germline

Chr2:47408399

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346729447

rs_267607917

2 SubmittersRCV001209546 RCV003449657

NM_000179.3(MSH6):c.260+4G>A

SNV
Germline

Chr2:47783497

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA1139655634

rs_1389301978

5 SubmittersRCV001202557 RCV003293994 RCV004010621 RCV005423921

NM_024426.6(WT1):c.1114-1G>T

SNV
Germline

Chr11:32396408

Likely pathogenic

Wilms tumor 1
11p partial monosomy syndrome
Drash syndrome
Frasier syndrome

Criteria Provided
Single Submitter

CA379960085

rs_1851976798

1 SubmittersRCV001213839

NM_000251.3(MSH2):c.792+1G>C

SNV
Germline

Chr2:47412561

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346732537

rs_267607934

6 SubmittersRCV001223371 RCV003363185 RCV001357326 RCV003449704

NM_000251.3(MSH2):c.793-2A>G

SNV
Germline

Chr2:47414267

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA346732732

rs_267607933

4 SubmittersRCV001219161 RCV003449695 RCV002418752 RCV004998735

NM_000251.3(MSH2):c.1759+5A>T

SNV
Germline

Chr2:47471067

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA769427992

rs_1396571187

5 SubmittersRCV001223537 RCV001760212 RCV004807473 RCV002411827

NM_000535.7(PMS2):c.538-1G>A

SNV
Germline

Chr7:5999276

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA366744139

rs_988423880

6 SubmittersRCV001219564 RCV002290643 RCV002348734 RCV004546618

NM_024426.6(WT1):c.1447+2T>C

SNV
Germline

Chr11:32391970

Pathogenic

Drash syndrome
Frasier syndrome
Wilms tumor 1
11p partial monosomy syndrome

Criteria Provided
Single Submitter

CA379958638

rs_1851829439

1 SubmittersRCV001218361

NM_022552.5(DNMT3A):c.958C>T (p.Arg320Ter)

SNV
Germline

Chr2:25247647

Pathogenic

Tatton-Brown-Rahman overgrowth syndrome
Condition: not provided
EBV-positive nodal T- and NK-cell lymphoma

Criteria Provided
Multiple Submitters
No Conflicts

CA1556234

rs_778270132

4 SubmittersRCV001227614 RCV003321812 RCV004557460

NM_000251.3(MSH2):c.82G>A (p.Glu28Lys)

SNV
Germline

Chr2:47403273

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA040832

rs_63751246

3 SubmittersRCV001230131 RCV002429983 RCV004807477

NM_000251.3(MSH2):c.332C>T (p.Ala111Val)

SNV
Germline

Chr2:47408521

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346730012

rs_1672561306

4 SubmittersRCV001229939 RCV001355866 RCV001760227 RCV002322108

NM_000251.3(MSH2):c.1135G>T (p.Asp379Tyr)

SNV
Germline

Chr2:47429800

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA027070

rs_764911657

3 SubmittersRCV001237221 RCV002447183 RCV004004870

NM_000251.3(MSH2):c.2042A>C (p.Gln681Pro)

SNV
Germline

Chr2:47476403

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346729136

rs_1667302018

3 SubmittersRCV001232539 RCV002418798 RCV003449727

NM_014159.7(SETD2):c.7355C>T (p.Ser2452Leu)

SNV
Germline

Chr3:47019836

Conflicting classifications of pathogenicity

Luscan-Lumish syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2362502

rs_775780402

4 SubmittersRCV001229267 RCV002563159

NM_014159.7(SETD2):c.6029C>T (p.Thr2010Ile)

SNV
Germline

Chr3:47083751

Conflicting classifications of pathogenicity

Luscan-Lumish syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA352530313

rs_2041416610

3 SubmittersRCV001227955 RCV003127704

NM_014159.7(SETD2):c.265C>T (p.Leu89Phe)

SNV
Germline

Chr3:47124371

Conflicting classifications of pathogenicity

Condition: not provided
Luscan-Lumish syndrome

Criteria Provided
Conflicting Classifications

CA2363754

rs_374799616

3 SubmittersRCV001549883 RCV001225345

NM_000535.7(PMS2):c.1123C>T (p.Gln375Ter)

SNV
Germline

Chr7:5989821

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA366742759

rs_956005905

3 SubmittersRCV001227131 RCV003449715 RCV002436879

NM_000535.7(PMS2):c.65C>G (p.Ser22Ter)

SNV
Germline

Chr7:6005990

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366745128

rs_767028531

3 SubmittersRCV001233504 RCV002375243 RCV003449728

NM_018344.6(SLC29A3):c.971C>T (p.Pro324Leu)

SNV
Germline

Chr10:71362151

Likely pathogenic

H syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA5543095

rs_758201217

2 SubmittersRCV001237894

NM_024426.6(WT1):c.351C>T (p.Gly117=)

SNV
Germline

Chr11:32435010

Conflicting classifications of pathogenicity

Frasier syndrome
Wilms tumor 1
11p partial monosomy syndrome
Drash syndrome
8 conditions

Criteria Provided
Conflicting Classifications

CA473773799

rs_1473590912

2 SubmittersRCV001226664 RCV002484233

NM_015272.5(RPGRIP1L):c.3121A>T (p.Lys1041Ter)

SNV
Germline

Chr16:53637794

Pathogenic/Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
RPGRIP1L-related disorder
Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA395926336

rs_1456208953

3 SubmittersRCV001231979 RCV004538486 RCV002497792

NM_015272.5(RPGRIP1L):c.1799T>G (p.Leu600Ter)

SNV
Germline

Chr16:53652888

Pathogenic/Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA395917292

rs_1966902456

2 SubmittersRCV001231692 RCV002504314

NM_022552.5(DNMT3A):c.1363A>T (p.Lys455Ter)

SNV
Germline

Chr2:25246226

Pathogenic

Tatton-Brown-Rahman overgrowth syndrome

Criteria Provided
Single Submitter

CA346072765

rs_1674744924

1 SubmittersRCV001245491

NM_000179.3(MSH6):c.3430A>C (p.Met1144Leu)

SNV
Germline

Chr2:47803677

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA070809

rs_771925339

3 SubmittersRCV001242725 RCV004034728 RCV004803598

NM_014159.7(SETD2):c.1523G>T (p.Gly508Val)

SNV
Germline

Chr3:47123113

Conflicting classifications of pathogenicity

Luscan-Lumish syndrome
Condition: not provided
Inborn genetic diseases
Rabin-Pappas syndrome
Intellectual developmental disorder, autosomal dominant 70
Luscan-Lumish syndrome

Criteria Provided
Conflicting Classifications

CA2363675

rs_768072239

6 SubmittersRCV001239492 RCV001773542 RCV002563944 RCV005394862

NM_001378615.1(CC2D2A):c.149T>A (p.Met50Lys)

SNV
Germline

Chr4:15480729

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome 9
Meckel syndrome, type 6
COACH syndrome 2
Retinitis pigmentosa 93

Criteria Provided
Conflicting Classifications

CA2863292

rs_765810643

2 SubmittersRCV001240421 RCV005029819

NM_000535.7(PMS2):c.573C>G (p.Tyr191Ter)

SNV
Germline

Chr7:5999240

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Mismatch repair cancer syndrome 4
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366744062

rs_761134229

2 SubmittersRCV001240259 RCV002499394

NM_000251.3(MSH2):c.1277-1G>T

SNV
Germline

Chr2:47445547

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA346724481

rs_267607948

3 SubmittersRCV001235341 RCV003142200 RCV004639519

NM_000251.3(MSH2):c.1661+1G>C

SNV
Germline

Chr2:47466809

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346728021

rs_267607969

3 SubmittersRCV001229406 RCV003294097 RCV003449722

NM_000251.3(MSH2):c.211+1G>C

SNV
Germline

Chr2:47403403

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer
Lynch syndrome 1
Lynch syndrome 1
Mismatch repair cancer syndrome 2
Muir-Torré syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA346729067

rs_1114167883

4 SubmittersRCV001241243 RCV001806078 RCV003449751 RCV005359988

NM_000535.7(PMS2):c.988+1G>T

SNV
Germline

Chr7:5991972

Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA052736

rs_757110564

5 SubmittersRCV001243900 RCV001524006 RCV004004899 RCV003449767

NM_152416.4(NDUFAF6):c.337C>T (p.Arg113Ter)

SNV
Germline

Chr8:95035493

Pathogenic/Likely pathogenic

Condition: not provided
Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 17

Criteria Provided
Multiple Submitters
No Conflicts

CA4814749

rs_753873681

6 SubmittersRCV001556391 RCV001249207 RCV003152754

NM_007103.4(NDUFV1):c.1080G>A (p.Ser360=)

SNV
Germline

Chr11:67611569

Conflicting classifications of pathogenicity

Leigh syndrome
Mitochondrial complex I deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6143377

rs_201992354

4 SubmittersRCV001249206 RCV001267713 RCV001879751

NM_024120.5(NDUFAF5):c.562A>G (p.Met188Val)

SNV
Germline

Chr20:13801528

Likely pathogenic

Leigh syndrome

Criteria Provided
Single Submitter

CA9767811

rs_200756131

1 SubmittersRCV001249209

NM_024120.5(NDUFAF5):c.519+4A>G

SNV
Germline

Chr20:13798504

Conflicting classifications of pathogenicity

Leigh syndrome
Condition: not provided
not specified
Mitochondrial complex I deficiency, nuclear type 16

Criteria Provided
Conflicting Classifications

CA9767786

rs_373951216

5 SubmittersRCV001249208 RCV002570397 RCV001844279 RCV004762023

NM_024426.6(WT1):c.1338C>A (p.His446Gln)

SNV
Germline

Chr11:32392682

Pathogenic

Drash syndrome
Wilms tumor 1
11p partial monosomy syndrome
Frasier syndrome
Drash syndrome
Frasier syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA379959168

rs_121907907

2 SubmittersRCV001879755 RCV001280531

NM_000251.3(MSH2):c.337A>T (p.Lys113Ter)

SNV
Germline/somatic

Chr2:47408526

Pathogenic

Lynch-like syndrome
Lynch syndrome 1

Criteria Provided
Single Submitter

CA346730027

rs_1573437064

2 SubmittersRCV001249955 RCV002291503

NM_000251.3(MSH2):c.803C>A (p.Ser268Ter)

SNV
Germline/somatic

Chr2:47414279

Pathogenic

Lynch-like syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346732755

rs_563410947

4 SubmittersRCV001249913 RCV002418857 RCV002570409 RCV003449805

NM_000179.3(MSH6):c.3141G>A (p.Trp1047Ter)

SNV
Germline/somatic

Chr2:47801124

Pathogenic

Lynch-like syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA346756689

rs_1553414554

4 SubmittersRCV001249959 RCV002322167 RCV003449807 RCV003594123

NM_001376571.1(MADD):c.2816+1G>A

SNV
Germline

Chr11:47289494

Pathogenic

Deeah syndrome

Criteria Provided
Single Submitter

CA380343846

rs_2063412625

1 SubmittersRCV001250121

NM_000251.3(MSH2):c.1303G>T (p.Val435Phe)

SNV
Germline

Chr2:47445574

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346724559

rs_876658240

5 SubmittersRCV001251400 RCV002379955 RCV003770306 RCV003462831

NM_000535.7(PMS2):c.803+9A>G

SNV
Germline

Chr7:5997317

Conflicting classifications of pathogenicity

not specified
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA1097970350

rs_1784516917

2 SubmittersRCV001251395 RCV005428155

NM_006941.4(SOX10):c.941C>A (p.Ser314Ter)

SNV
Germline

Chr22:37973955

Pathogenic

PCWH syndrome

Criteria Provided
Single Submitter

CA411492555

rs_1932142815

1 SubmittersRCV001253528

NM_001375834.1(WIPF1):c.709C>T (p.Gln237Ter)

SNV
Germline

Chr2:174572096

Pathogenic

Wiskott-Aldrich syndrome 2

No Assertion Criteria Provided

CA349341992

rs_1684878263

1 SubmittersRCV001253818

NM_014159.7(SETD2):c.5761G>T (p.Glu1921Ter)

SNV
Germline

Chr3:47084019

Pathogenic

Luscan-Lumish syndrome

Criteria Provided
Single Submitter

CA352534071

rs_2041433287

1 SubmittersRCV001254166

NM_001376571.1(MADD):c.914G>T (p.Gly305Val)

SNV
Germline

Chr11:47276153

Pathogenic

Deeah syndrome

No Assertion Criteria Provided

CA380323637

rs_1326027590

1 SubmittersRCV001256020

NM_001376571.1(MADD):c.963+1G>A

SNV
Germline

Chr11:47276203

Pathogenic

Deeah syndrome

No Assertion Criteria Provided

CA380323951

rs_2049640804

1 SubmittersRCV001256022

NM_001376571.1(MADD):c.770C>T (p.Ser257Phe)

SNV
Germline

Chr11:47276009

Pathogenic

Deeah syndrome

No Assertion Criteria Provided

CA380322962

rs_2049504624

1 SubmittersRCV001256023

NM_024426.6(WT1):c.250C>T (p.Leu84=)

SNV
Germline

Chr11:32435111

Conflicting classifications of pathogenicity

Nephrotic syndrome, type 4
Frasier syndrome
Drash syndrome
Wilms tumor 1
11p partial monosomy syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA064783

rs_756055892

3 SubmittersRCV001257278 RCV003770342 RCV004967933

NM_001378615.1(CC2D2A):c.1751G>A (p.Trp584Ter)

SNV
Germline

Chr4:15537063

Pathogenic

Encephalocele
Polycystic kidney disease
Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome 9
Meckel syndrome, type 6
COACH syndrome 2
Retinitis pigmentosa 93

Criteria Provided
Multiple Submitters
No Conflicts

CA92530795

rs_980305935

3 SubmittersRCV001257355 RCV001879968 RCV005029847

NM_022552.5(DNMT3A):c.1937-2A>G

SNV
Germline

Chr2:25241709

Pathogenic

Tatton-Brown-Rahman overgrowth syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA1555814

rs_770305758

2 SubmittersRCV001258351 RCV001560963

NM_000251.3(MSH2):c.1633C>T (p.Gln545Ter)

SNV
Germline

Chr2:47466780

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colon cancer
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346727964

rs_1666904987

3 SubmittersRCV001260342 RCV002393670 RCV003449819

NM_022552.5(DNMT3A):c.2206C>T (p.Arg736Cys)

SNV
Germline

Chr2:25240418

Conflicting classifications of pathogenicity

Intellectual disability
Tatton-Brown-Rahman overgrowth syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1555701

rs_761934754

3 SubmittersRCV001260610 RCV001340498 RCV003319458

NM_022552.5(DNMT3A):c.994G>A (p.Gly332Arg)

SNV
Germline

Chr2:25247611

Conflicting classifications of pathogenicity

Intellectual disability
Tatton-Brown-Rahman overgrowth syndrome

Criteria Provided
Conflicting Classifications

CA1556221

rs_760854242

3 SubmittersRCV001260609 RCV001879994

NM_001378615.1(CC2D2A):c.2803C>T (p.Arg935Ter)

SNV
Germline

Chr4:15557481

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Retinitis pigmentosa 93
COACH syndrome 2
Meckel syndrome, type 6
Joubert syndrome 9
Inborn genetic diseases
CC2D2A-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA2864005

rs_563610095

4 SubmittersRCV001880034 RCV002499450 RCV002541585 RCV005432641

NM_000535.7(PMS2):c.2109G>C (p.Thr703=)

SNV
Germline

Chr7:5982889

Conflicting classifications of pathogenicity

Breast neoplasm
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA046622

rs_775355718

6 SubmittersRCV001262424 RCV002541589 RCV002418865 RCV004727058 RCV005428157

NM_000535.7(PMS2):c.1112A>T (p.Asn371Ile)

SNV
Germline

Chr7:5989832

Conflicting classifications of pathogenicity

Lynch syndrome 4
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA366742780

rs_1783517960

2 SubmittersRCV001262163 RCV004807489

NC_012920.1(MT-ATP6):m.9155A>G

SNV
Germline

ChrMT:9155

Likely pathogenic

Mitochondrial disease
Leigh syndrome

Reviewed By Expert Panel

CA414802316

rs_2521964059

2 SubmittersRCV002291223 RCV002537703

NM_006941.4(SOX10):c.644G>A (p.Arg215Gln)

SNV
Germline

Chr22:37977920

Conflicting classifications of pathogenicity

Condition: not provided
PCWH syndrome

Criteria Provided
Conflicting Classifications

CA10228637

rs_779933527

2 SubmittersRCV005094279 RCV004789506

NM_022552.5(DNMT3A):c.1097G>A (p.Arg366His)

SNV
Germline

Chr2:25247076

Conflicting classifications of pathogenicity

Condition: not provided
Tatton-Brown-Rahman overgrowth syndrome

Criteria Provided
Conflicting Classifications

CA1556167

rs_767236033

2 SubmittersRCV001269839 RCV003746587

NM_015272.5(RPGRIP1L):c.2122G>A (p.Gly708Ser)

SNV
Germline

Chr16:53652565

Conflicting classifications of pathogenicity

Joubert syndrome
Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome 7
Meckel syndrome, type 5
COACH syndrome 3
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8057635

rs_565152814

4 SubmittersRCV001279159 RCV002541701 RCV005012711 RCV005470708

NM_024120.5(NDUFAF5):c.480-3T>G

SNV
Germline

Chr20:13798458

Conflicting classifications of pathogenicity

Condition: not provided
Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 16
NDUFAF5-related disorder

Criteria Provided
Conflicting Classifications

CA9767782

rs_749288299

4 SubmittersRCV001773584 RCV001279569 RCV003469500 RCV004758155

NM_024120.5(NDUFAF5):c.617C>T (p.Thr206Met)

SNV
Germline

Chr20:13801583

Conflicting classifications of pathogenicity

Leigh syndrome
Inborn genetic diseases
Mitochondrial complex I deficiency, nuclear type 16
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9767826

rs_141758325

5 SubmittersRCV001279573 RCV002537856 RCV002480914 RCV005623410

NM_000377.3(WAS):c.869T>C (p.Ile290Thr)

SNV
Germline

ChrX:48688391

Likely pathogenic

X-linked severe congenital neutropenia
Condition: not provided
Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia
Thrombocytopenia 1

Criteria Provided
Multiple Submitters
No Conflicts

CA412872351

rs_2062426981

3 SubmittersRCV001280623 RCV001509118 RCV005225346

NM_000251.3(MSH2):c.645+9A>G

SNV
Unknown

Chr2:47410381

Conflicting classifications of pathogenicity

Condition: not provided
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA1139656920

rs_1672684698

2 SubmittersRCV001284657 RCV005245809

NM_000251.3(MSH2):c.1557T>C (p.Phe519=)

SNV
Germline

Chr2:47466704

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA425965587

rs_1573553312

4 SubmittersRCV001284008 RCV001525213 RCV002069501 RCV005245807

NM_000251.3(MSH2):c.2377C>T (p.Gln793Ter)

SNV
Germline

Chr2:47478438

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA346730089

rs_730881769

4 SubmittersRCV001284507 RCV001384160 RCV003449836 RCV002451640

NM_000179.3(MSH6):c.2478T>C (p.His826=)

SNV
Germline

Chr2:47800461

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA426121489

rs_1572727338

5 SubmittersRCV001284516 RCV001427274 RCV002447253 RCV005428161

NM_000535.7(PMS2):c.903+1G>A

SNV
Germline

Chr7:5995533

Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA366743396

rs_1554300689

7 SubmittersRCV001284681 RCV002375329 RCV003449837 RCV002537934

NM_006218.4(PIK3CA):c.271G>A (p.Asp91Asn)

SNV
Somatic

Chr3:179199096

Pathogenic

PIK3CA related overgrowth syndrome

No Assertion Criteria Provided

CA355272438

rs_1724341846

1 SubmittersRCV001289462

NM_006218.4(PIK3CA):c.2727C>A (p.Phe909Leu)

SNV
Somatic

Chr3:179230064

Pathogenic

PIK3CA related overgrowth syndrome

No Assertion Criteria Provided

CA355279690

rs_1432181034

1 SubmittersRCV001289460

NM_014159.7(SETD2):c.3659C>A (p.Thr1220Asn)

SNV
Germline

Chr3:47120977

Conflicting classifications of pathogenicity

Luscan-Lumish syndrome
Inborn genetic diseases
Condition: not provided
SETD2-related disorder

Criteria Provided
Conflicting Classifications

CA2363347

rs_764195998

4 SubmittersRCV001291822 RCV004035586 RCV004692412 RCV004531069

NM_000251.3(MSH2):c.34G>T (p.Glu12Ter)

SNV
Germline

Chr2:47403225

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346728508

rs_917968387

2 SubmittersRCV001295935 RCV003449847

NM_000251.3(MSH2):c.211+3G>A

SNV
Germline

Chr2:47403405

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA2495826753

rs_778940305

3 SubmittersRCV001309018 RCV005245817 RCV005443308

NM_000251.3(MSH2):c.1185A>C (p.Gln395His)

SNV
Germline

Chr2:47429850

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346733854

rs_1032873228

3 SubmittersRCV004004987 RCV001299434 RCV002341591

NM_000251.3(MSH2):c.2266A>C (p.Thr756Pro)

SNV
Germline

Chr2:47478327

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346729793

rs_750646335

3 SubmittersRCV001305464 RCV003449871

NM_000251.3(MSH2):c.2276G>T (p.Gly759Val)

SNV
Germline

Chr2:47478337

Conflicting classifications of pathogenicity

Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346729812

rs_386833406

3 SubmittersRCV003449856 RCV001302008 RCV002447293

NM_014159.7(SETD2):c.5635C>T (p.Arg1879Cys)

SNV
Germline

Chr3:47084145

Pathogenic

Luscan-Lumish syndrome

Criteria Provided
Single Submitter

CA352535491

rs_1575744958

1 SubmittersRCV001302348

NM_014159.7(SETD2):c.4930G>A (p.Gly1644Arg)

SNV
Germline

Chr3:47101543

Conflicting classifications of pathogenicity

Luscan-Lumish syndrome
Condition: not provided
SETD2-related disorder

Criteria Provided
Conflicting Classifications

CA352513307

rs_2042210578

3 SubmittersRCV001303150 RCV005601739 RCV004531086

NM_014159.7(SETD2):c.2540T>C (p.Phe847Ser)

SNV
Germline

Chr3:47122096

Conflicting classifications of pathogenicity

Luscan-Lumish syndrome
not specified

Criteria Provided
Conflicting Classifications

CA2363520

rs_758169057

2 SubmittersRCV001303334 RCV005437062

NM_000251.3(MSH2):c.1899A>T (p.Ile633=)

SNV
Germline

Chr2:47475164

Conflicting classifications of pathogenicity

Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA426119709

rs_1667243318

4 SubmittersRCV001310074 RCV003294253 RCV003759043

NM_000251.3(MSH2):c.25C>G (p.Leu9Val)

SNV
Germline

Chr2:47403216

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346728469

rs_1672231681

3 SubmittersRCV001323925 RCV004570786 RCV004945011

NM_000251.3(MSH2):c.987G>C (p.Leu329Phe)

SNV
Germline

Chr2:47416340

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA46686989

rs_933434691

3 SubmittersRCV001321787 RCV004035040 RCV004005110

NM_000251.3(MSH2):c.1321A>G (p.Thr441Ala)

SNV
Germline

Chr2:47445592

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Malignant tumor of breast
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346724616

rs_587779086

4 SubmittersRCV001327210 RCV001357630 RCV002384440 RCV005601754

NM_000251.3(MSH2):c.1943T>C (p.Ile648Thr)

SNV
Germline

Chr2:47475208

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA032140

rs_763100088

3 SubmittersRCV001315795 RCV002412012 RCV003462886

NM_000251.3(MSH2):c.2549A>G (p.Glu850Gly)

SNV
Germline

Chr2:47480786

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346730867

rs_1667497027

4 SubmittersRCV001327722 RCV001553379 RCV002438757 RCV004808015

NM_000251.3(MSH2):c.2791A>G (p.Lys931Glu)

SNV
Germline

Chr2:47482935

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346732230

rs_1476533863

3 SubmittersRCV001324135 RCV002438742 RCV004808010

NM_000179.3(MSH6):c.1670G>A (p.Gly557Asp)

SNV
Germline

Chr2:47799653

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA346747395

rs_1553413050

3 SubmittersRCV001316771 RCV002402882 RCV003449906

NM_000179.3(MSH6):c.3493T>C (p.Cys1165Arg)

SNV
Germline

Chr2:47804964

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA346760152

rs_1669872142

3 SubmittersRCV001325048 RCV002456451 RCV003449934

NM_014159.7(SETD2):c.5057G>A (p.Arg1686Gln)

SNV
Germline

Chr3:47098040

Conflicting classifications of pathogenicity

Luscan-Lumish syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2363001

rs_367601805

2 SubmittersRCV001324471 RCV003135977

NM_014159.7(SETD2):c.1669T>C (p.Ser557Pro)

SNV
Germline

Chr3:47122967

Conflicting classifications of pathogenicity

Luscan-Lumish syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2363648

rs_745846357

2 SubmittersRCV001320123 RCV004034999

NM_000535.7(PMS2):c.2549T>G (p.Met850Arg)

SNV
Germline

Chr7:5973439

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA366734818

rs_1781486223

3 SubmittersRCV001327730 RCV002431938 RCV003449942

NM_024426.6(WT1):c.996A>T (p.Lys332Asn)

SNV
Germline

Chr11:32416510

Conflicting classifications of pathogenicity

Wilms tumor 1
11p partial monosomy syndrome
Drash syndrome
Frasier syndrome
Inborn genetic diseases
6 conditions

Criteria Provided
Conflicting Classifications

CA379961753

rs_758410591

3 SubmittersRCV001317938 RCV005298776 RCV005050329

NM_024426.6(WT1):c.968T>C (p.Val323Ala)

SNV
Germline

Chr11:32416538

Conflicting classifications of pathogenicity

Frasier syndrome
Wilms tumor 1
11p partial monosomy syndrome
Drash syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA379961895

rs_1852677213

2 SubmittersRCV001312847 RCV005298772

NM_024426.6(WT1):c.677C>A (p.Thr226Asn)

SNV
Germline

Chr11:32428604

Conflicting classifications of pathogenicity

Wilms tumor 1
11p partial monosomy syndrome
Drash syndrome
Frasier syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA065448

rs_556804456

2 SubmittersRCV001318884 RCV004968025

NM_022552.5(DNMT3A):c.427C>T (p.Arg143Ter)

SNV
Germline

Chr2:25282462

Pathogenic

Intellectual disability
Tatton-Brown-Rahman overgrowth syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA346083673

rs_1352259738

3 SubmittersRCV001328488 RCV003584898

NM_002495.4(NDUFS4):c.80T>A (p.Val27Asp)

SNV
Germline

Chr5:53560742

Conflicting classifications of pathogenicity

Leigh syndrome
Condition: not provided
not specified
NDUFS4-related disorder

Criteria Provided
Conflicting Classifications

CA3264147

rs_145347909

5 SubmittersRCV001328961 RCV002070156 RCV004587126 RCV004758160

NM_078470.6(COX15):c.305G>A (p.Trp102Ter)

SNV
Germline

Chr10:99727531

Pathogenic/Likely pathogenic

Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2
Leigh syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA5642300

rs_778412019

4 SubmittersRCV001331215 RCV002307728 RCV003738044

NM_015272.5(RPGRIP1L):c.2239C>T (p.Arg747Ter)

SNV
Germline

Chr16:53649029

Pathogenic/Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome and related disorders
COACH syndrome 3
Meckel syndrome, type 5
Joubert syndrome 7

Criteria Provided
Multiple Submitters
No Conflicts

CA8057595

rs_767686118

3 SubmittersRCV001975234 RCV002469441 RCV002479591

NM_000377.3(WAS):c.374G>A (p.Gly125Glu)

SNV
Unknown

ChrX:48685747

Likely pathogenic

Wiskott-Aldrich syndrome

Criteria Provided
Single Submitter

CA412867412

rs_1557006534

1 SubmittersRCV001332389

NM_001378615.1(CC2D2A):c.3015-9A>C

SNV
Germline

Chr4:15563346

Conflicting classifications of pathogenicity

COACH syndrome 1
Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome 9
Retinitis pigmentosa 93
Meckel syndrome, type 6
COACH syndrome 2

Criteria Provided
Conflicting Classifications

CA92513467

rs_1010285962

3 SubmittersRCV001334752 RCV002070189 RCV005023059

NM_001378615.1(CC2D2A):c.4314+12C>T

SNV
Germline

Chr4:15589691

Conflicting classifications of pathogenicity

COACH syndrome 1
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA2864367

rs_775304664

2 SubmittersRCV001334754 RCV002070190

NM_017547.4(FOXRED1):c.734-1G>C

SNV
Unknown

Chr11:126275793

Likely pathogenic

Leigh syndrome

Criteria Provided
Single Submitter

CA383230297

rs_1296948086

1 SubmittersRCV001334927

NM_015272.5(RPGRIP1L):c.3220+17A>C

SNV
Germline

Chr16:53637678

Conflicting classifications of pathogenicity

COACH syndrome 1
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA721639044

rs_1204073957

2 SubmittersRCV001334833 RCV002070192

NM_000540.3(RYR1):c.1593C>T (p.Gly531=)

SNV
Germline

Chr19:38455467

Conflicting classifications of pathogenicity

Central core myopathy
Congenital myopathy with fiber type disproportion
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA308123278

rs_927675372

4 SubmittersRCV001334520 RCV002476551 RCV001865812 RCV004005143

NM_000540.3(RYR1):c.2113G>A (p.Gly705Arg)

SNV
Germline

Chr19:38458238

Conflicting classifications of pathogenicity

Central core myopathy
Condition: not provided
RYR1-related disorder
Congenital myopathy with fiber type disproportion
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA062851

rs_565825739

7 SubmittersRCV001334521 RCV001702096 RCV003591856 RCV002499657 RCV004005144

NM_001379500.1(COL18A1):c.3539G>A (p.Arg1180Gln)

SNV
Germline

Chr21:45510107

Conflicting classifications of pathogenicity

Knobloch syndrome
Condition: not provided
Knobloch syndrome 1
COL18A1-related disorder

Criteria Provided
Conflicting Classifications

CA10067949

rs_200484625

5 SubmittersRCV001333463 RCV001452439 RCV004546636 RCV004548178

NM_000251.3(MSH2):c.1502G>A (p.Arg501Lys)

SNV
Germline

Chr2:47463146

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA028941

rs_376677710

4 SubmittersRCV001338269 RCV003169591 RCV004570806

NM_000251.3(MSH2):c.1996A>G (p.Ile666Val)

SNV
Germline

Chr2:47475261

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346728936

rs_1667252115

3 SubmittersRCV001340669 RCV003469568 RCV005369839

NM_014159.7(SETD2):c.6169C>T (p.Pro2057Ser)

SNV
Germline

Chr3:47062287

Conflicting classifications of pathogenicity

Luscan-Lumish syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2362754

rs_146911485

2 SubmittersRCV001339724 RCV002546880

NM_014159.7(SETD2):c.2849G>A (p.Arg950His)

SNV
Germline

Chr3:47121787

Conflicting classifications of pathogenicity

Luscan-Lumish syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2363474

rs_149265978

3 SubmittersRCV001345358 RCV003136009

NM_014159.7(SETD2):c.1180T>C (p.Cys394Arg)

SNV
Germline

Chr3:47123456

Conflicting classifications of pathogenicity

Luscan-Lumish syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2363707

rs_368465960

4 SubmittersRCV001341491 RCV003225179

NM_001379500.1(COL18A1):c.1221G>A (p.Pro407=)

SNV
Germline

Chr21:45477965

Conflicting classifications of pathogenicity

Condition: not provided
Knobloch syndrome 1

Criteria Provided
Conflicting Classifications

CA10066106

rs_368902481

2 SubmittersRCV001350759 RCV004727179

NM_000251.3(MSH2):c.935T>C (p.Leu312Pro)

SNV
Germline

Chr2:47414411

Conflicting classifications of pathogenicity

Bile duct cancer
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346733010

rs_2104180665

3 SubmittersRCV001358116 RCV002377506 RCV004808025

NM_000251.3(MSH2):c.2005+2T>G

SNV
Germline

Chr2:47475272

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346728973

rs_267607987

3 SubmittersRCV001355403 RCV002420773 RCV003449995

NM_000179.3(MSH6):c.3083C>A (p.Ser1028Ter)

SNV
Germline

Chr2:47801066

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346756566

rs_876660853

3 SubmittersRCV001358520 RCV004034503 RCV004789543

NM_000535.7(PMS2):c.2410A>T (p.Lys804Ter)

SNV
Unknown

Chr7:5977623

Likely pathogenic

Malignant tumor of breast
Lynch syndrome 4

Criteria Provided
Single Submitter

CA366735654

rs_2128672286

2 SubmittersRCV001357092 RCV003469593

NM_000251.3(MSH2):c.933C>A (p.Asn311Lys)

SNV
Germline

Chr2:47414409

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Muir-Torré syndrome
Lynch syndrome 1
Mismatch repair cancer syndrome 2

Criteria Provided
Conflicting Classifications

CA346733005

rs_1060504424

3 SubmittersRCV001806154 RCV001369959 RCV005394993

NM_000179.3(MSH6):c.627+6A>T

SNV
Germline

Chr2:47796069

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA2499216092

rs_1572716556

2 SubmittersRCV001370551 RCV005428185

NM_000179.3(MSH6):c.2118T>A (p.Phe706Leu)

SNV
Germline

Chr2:47800101

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346750974

rs_2104389604

3 SubmittersRCV001370981 RCV004037489 RCV004006826

NM_001378615.1(CC2D2A):c.1268G>A (p.Arg423Gln)

SNV
Germline

Chr4:15527565

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome 9
Retinitis pigmentosa 93
Meckel syndrome, type 6
COACH syndrome 2

Criteria Provided
Conflicting Classifications

CA2863623

rs_780924556

2 SubmittersRCV001367647 RCV005023099

NM_000540.3(RYR1):c.2682G>T (p.Pro894=)

SNV
Germline

Chr19:38463527

Conflicting classifications of pathogenicity

RYR1-related disorder
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
Congenital myopathy with fiber type disproportion
Central core myopathy
Condition: not provided
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA308074291

rs_919322708

5 SubmittersRCV001370546 RCV002488164 RCV003235565 RCV004808034

NM_000540.3(RYR1):c.10347C>T (p.His3449=)

SNV
Germline

Chr19:38523115

Conflicting classifications of pathogenicity

RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
Congenital myopathy with fiber type disproportion
Central core myopathy

Criteria Provided
Conflicting Classifications

CA053217

rs_373702420

3 SubmittersRCV001370548 RCV004006823 RCV002504621

NM_022552.5(DNMT3A):c.1004A>G (p.Lys335Arg)

SNV
Germline

Chr2:25247601

Pathogenic/Likely pathogenic

Neonatal hypotonia
Tatton-Brown-Rahman overgrowth syndrome
Autism spectrum disorder
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA346074500

rs_2149307214

3 SubmittersRCV001376132 RCV001871979 RCV002285481

NM_006941.4(SOX10):c.1400A>T (p.Ter467Leu)

SNV
Germline

Chr22:37973496

Likely pathogenic

PCWH syndrome

Criteria Provided
Single Submitter

CA411487553

rs_2145760379

1 SubmittersRCV001376161

NM_000251.3(MSH2):c.1076G>T (p.Arg359Ile)

SNV
Germline

Chr2:47416429

Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA46687382

rs_63751604

3 SubmittersRCV001377641 RCV002420851 RCV003450044

NM_024996.7(GFM1):c.573-1G>C

SNV
Germline

Chr3:158649040

Conflicting classifications of pathogenicity

Condition: not provided
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Leigh syndrome

Criteria Provided
Conflicting Classifications

CA355176176

rs_2108009356

6 SubmittersRCV001379654 RCV001831371 RCV005361584

NM_000535.7(PMS2):c.706-1G>A

SNV
Germline

Chr7:5997424

Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366743801

rs_1202370194

3 SubmittersRCV001378993 RCV002368217 RCV005621095

NM_015272.5(RPGRIP1L):c.3295-2A>G

SNV
Germline

Chr16:53622358

Conflicting classifications of pathogenicity

Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3

Criteria Provided
Conflicting Classifications

CA395924229

rs_1258182460

3 SubmittersRCV001751748 RCV001378533 RCV005005906

NM_015272.5(RPGRIP1L):c.632+1G>A

SNV
Germline

Chr16:53687862

Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome
Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA395924361

rs_1376397728

2 SubmittersRCV001378777 RCV005014517

NM_000377.3(WAS):c.250T>C (p.Phe84Leu)

SNV
Germline

ChrX:48684400

Likely pathogenic

Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia
Thrombocytopenia 1

Criteria Provided
Single Submitter

CA412866605

rs_2147262951

1 SubmittersRCV001379030

NM_022552.5(DNMT3A):c.1792C>T (p.Arg598Ter)

SNV
Germline

Chr2:25244214

Pathogenic/Likely pathogenic

Tatton-Brown-Rahman overgrowth syndrome
Condition: not provided
See cases

Criteria Provided
Multiple Submitters
No Conflicts

CA1555873

rs_568207978

3 SubmittersRCV001382894 RCV002284489 RCV002252677

NM_022552.5(DNMT3A):c.856-10G>A

SNV
Germline

Chr2:25247759

Pathogenic

Tatton-Brown-Rahman overgrowth syndrome

Criteria Provided
Single Submitter

CA43706566

rs_913561874

1 SubmittersRCV001382387

NM_000251.3(MSH2):c.1511-2A>C

SNV
Germline

Chr2:47466656

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA346727699

rs_267607962

3 SubmittersRCV001384780 RCV003450063 RCV002395870

NM_000251.3(MSH2):c.2445T>A (p.Tyr815Ter)

SNV
Germline

Chr2:47478506

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346730291

rs_1667403360

4 SubmittersRCV001388596 RCV002456607 RCV003451684

NM_000179.3(MSH6):c.24C>A (p.Tyr8Ter)

SNV
Germline

Chr2:47783257

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346734502

rs_746306598

2 SubmittersRCV001387656 RCV003450077

NM_000179.3(MSH6):c.333C>G (p.Tyr111Ter)

SNV
Germline

Chr2:47790999

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA346736953

rs_786202772

3 SubmittersRCV001390264 RCV003451690 RCV002322373

NM_000179.3(MSH6):c.2974G>T (p.Glu992Ter)

SNV
Germline

Chr2:47800957

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA346756337

rs_774755404

3 SubmittersRCV001381422 RCV004017826 RCV002438887

NM_000179.3(MSH6):c.3807C>A (p.Cys1269Ter)

SNV
Germline

Chr2:47806457

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA346761221

rs_747924946

2 SubmittersRCV001386762 RCV004803679

NM_014159.7(SETD2):c.6069T>A (p.Tyr2023Ter)

SNV
Germline

Chr3:47067110

Pathogenic

Luscan-Lumish syndrome

Criteria Provided
Single Submitter

CA352527443

rs_2107600390

1 SubmittersRCV001387444

NM_014159.7(SETD2):c.5236G>T (p.Glu1746Ter)

SNV
Germline

Chr3:47088154

Pathogenic

Luscan-Lumish syndrome

Criteria Provided
Single Submitter

CA352511042

rs_2107651058

1 SubmittersRCV001386079

NM_001378615.1(CC2D2A):c.1538G>A (p.Trp513Ter)

SNV
Germline

Chr4:15533264

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Meckel-Gruber syndrome
CC2D2A-related disorder
Meckel syndrome, type 6
COACH syndrome 2
Joubert syndrome 9
Retinitis pigmentosa 93

Criteria Provided
Multiple Submitters
No Conflicts

CA356410983

rs_2109029867

4 SubmittersRCV001387946 RCV001814315 RCV004733283 RCV004796624

NM_000535.7(PMS2):c.2179C>T (p.Gln727Ter)

SNV
Germline

Chr7:5978692

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366736980

rs_786202202

2 SubmittersRCV001380402 RCV003450052

NM_000535.7(PMS2):c.2174+1G>C

SNV
Germline

Chr7:5982823

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA153224679

rs_267608172

2 SubmittersRCV001387075 RCV003450073

NM_000535.7(PMS2):c.1557T>G (p.Tyr519Ter)

SNV
Germline

Chr7:5987208

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366741593

rs_6972869

4 SubmittersRCV001387397 RCV004808038 RCV002404903 RCV003450075

NM_000535.7(PMS2):c.543T>G (p.Tyr181Ter)

SNV
Germline

Chr7:5999270

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA366744127

rs_1583387894

2 SubmittersRCV001386402 RCV004017829

NM_024426.6(WT1):c.798C>G (p.Tyr266Ter)

SNV
Germline

Chr11:32428045

Pathogenic

Wilms tumor 1
11p partial monosomy syndrome
Drash syndrome
Frasier syndrome

Criteria Provided
Single Submitter

CA379963146

rs_2133073037

1 SubmittersRCV001390720

NM_015272.5(RPGRIP1L):c.2093T>G (p.Leu698Ter)

SNV
Germline

Chr16:53652594

Pathogenic/Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 5
COACH syndrome 3
Joubert syndrome 7

Criteria Provided
Multiple Submitters
No Conflicts

CA8057642

rs_201081228

2 SubmittersRCV001385484 RCV002476728

NM_015272.5(RPGRIP1L):c.1645G>T (p.Glu549Ter)

SNV
Germline

Chr16:53656526

Pathogenic/Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 5
COACH syndrome 3
Joubert syndrome 7

Criteria Provided
Multiple Submitters
No Conflicts

CA395918201

rs_1676833644

2 SubmittersRCV001384117 RCV005014532

NM_015272.5(RPGRIP1L):c.1372G>T (p.Glu458Ter)

SNV
Germline

Chr16:53658443

Pathogenic/Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Condition: not provided
Meckel syndrome, type 5
COACH syndrome 3
Joubert syndrome 7

Criteria Provided
Multiple Submitters
No Conflicts

CA8057817

rs_776941281

4 SubmittersRCV001384296 RCV001562284 RCV002476726

NM_015272.5(RPGRIP1L):c.772C>T (p.Gln258Ter)

SNV
Germline

Chr16:53686437

Pathogenic/Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 5
COACH syndrome 3
Joubert syndrome 7

Criteria Provided
Multiple Submitters
No Conflicts

CA395923737

rs_1970017927

2 SubmittersRCV001384638 RCV005014533

NM_015272.5(RPGRIP1L):c.170T>A (p.Leu57Ter)

SNV
Germline

Chr16:53696211

Pathogenic/Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 5
COACH syndrome 3
Joubert syndrome 7

Criteria Provided
Multiple Submitters
No Conflicts

CA395925935

rs_2151379380

2 SubmittersRCV001383483 RCV005014530

NM_000377.3(WAS):c.1453+2T>G

SNV
Germline

ChrX:48689436

Pathogenic

X-linked severe congenital neutropenia
Thrombocytopenia 1
Wiskott-Aldrich syndrome

Criteria Provided
Single Submitter

CA412874033

rs_2147267350

1 SubmittersRCV001387958

NM_000251.3(MSH2):c.2160A>G (p.Lys720=)

SNV
Germline

Chr2:47476521

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA426120380

rs_2104376970

5 SubmittersRCV001410617 RCV002256764 RCV002511086 RCV005245893

NM_000251.3(MSH2):c.2406C>T (p.Val802=)

SNV
Germline

Chr2:47478467

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346730203

rs_2104407996

3 SubmittersRCV001411409 RCV004945123 RCV005245897

NM_000179.3(MSH6):c.261-5A>G

SNV
Germline

Chr2:47790922

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA2499216081

rs_2104097899

4 SubmittersRCV001415751 RCV003584933 RCV005428230

NM_014159.7(SETD2):c.1849C>T (p.Pro617Ser)

SNV
Germline

Chr3:47122787

Conflicting classifications of pathogenicity

Luscan-Lumish syndrome

Criteria Provided
Conflicting Classifications

CA2363622

rs_372521251

2 SubmittersRCV001419782

NM_000535.7(PMS2):c.904-7T>C

SNV
Germline

Chr7:5992064

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA2499218970

rs_2128756503

3 SubmittersRCV001396530 RCV002258228 RCV005423994

NM_003172.4(SURF1):c.211G>T (p.Val71Leu)

SNV
Germline

Chr9:133354853

Conflicting classifications of pathogenicity

Leigh syndrome
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA200833481

rs_147993882

3 SubmittersRCV001399689 RCV002552716 RCV003120601

NM_003172.4(SURF1):c.55-4G>C

SNV
Germline

Chr9:133356324

Conflicting classifications of pathogenicity

Leigh syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA200834056

rs_927604495

2 SubmittersRCV001419301 RCV003264033

NM_000377.3(WAS):c.1338+8C>T

SNV
Germline

ChrX:48689074

Conflicting classifications of pathogenicity

Thrombocytopenia 1
Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10404074

rs_782158640

2 SubmittersRCV001394922 RCV004597993

NM_001379500.1(COL18A1):c.107-11987C>A

SNV
Germline

Chr21:45456255

Likely pathogenic

Knobloch syndrome

Criteria Provided
Single Submitter

CA10065556

rs_757523045

1 SubmittersRCV001420592

NM_004958.4(MTOR):c.2857G>A (p.Val953Met)

SNV
Germline

Chr1:11228841

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
MTOR-related disorder

Criteria Provided
Conflicting Classifications

CA590357

rs_140269225

5 SubmittersRCV001439812 RCV004651657 RCV003458706 RCV003955957

NM_000535.7(PMS2):c.1146T>G (p.Gly382=)

SNV
Germline

Chr7:5987619

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA453643827

rs_1554298091

5 SubmittersRCV001449081 RCV002456759 RCV004699384 RCV005424102

NM_024426.6(WT1):c.1448-7T>C

SNV
Germline

Chr11:32389186

Conflicting classifications of pathogenicity

Wilms tumor 1
11p partial monosomy syndrome
Frasier syndrome
Drash syndrome
Wilms tumor 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA598392464

rs_1392191365

3 SubmittersRCV001448308 RCV004007044 RCV002258262

NM_024426.6(WT1):c.978G>A (p.Gly326=)

SNV
Germline

Chr11:32416528

Conflicting classifications of pathogenicity

Wilms tumor 1
11p partial monosomy syndrome
Frasier syndrome
Drash syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA473568278

rs_2133032654

2 SubmittersRCV001440744 RCV005513054

NM_015272.5(RPGRIP1L):c.354A>G (p.Lys118=)

SNV
Germline

Chr16:53692241

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
RPGRIP1L-related disorder
Meckel syndrome, type 5
COACH syndrome 3
Joubert syndrome 7

Criteria Provided
Conflicting Classifications

CA495539241

rs_1253988919

3 SubmittersRCV001445389 RCV004733321 RCV005014566

NM_001379500.1(COL18A1):c.3316C>T (p.Arg1106Trp)

SNV
Germline

Chr21:45509422

Conflicting classifications of pathogenicity

Condition: not provided
Knobloch syndrome 1
Hereditary glaucoma, primary closed-angle
COL18A1-related disorder

Criteria Provided
Conflicting Classifications

CA10067852

rs_377620137

4 SubmittersRCV001448753 RCV002501574 RCV004550188

NM_000377.3(WAS):c.1280C>T (p.Pro427Leu)

SNV
Germline

ChrX:48689008

Conflicting classifications of pathogenicity

Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia
Thrombocytopenia 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10404066

rs_782307200

3 SubmittersRCV001422797 RCV002555114

NM_000249.4(MLH1):c.2104-6T>C

SNV
Germline

Chr3:37050480

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Conflicting Classifications

CA2499216724

rs_2148521621

3 SubmittersRCV001454810 RCV004007053 RCV005246083

NM_014159.7(SETD2):c.2096A>G (p.Asp699Gly)

SNV
Germline

Chr3:47122540

Conflicting classifications of pathogenicity

Luscan-Lumish syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2363587

rs_368132877

3 SubmittersRCV001462584 RCV003434248

NM_000179.3(MSH6):c.2904C>T (p.Val968=)

SNV
Germline

Chr2:47800887

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA426122020

rs_150683226

3 SubmittersRCV001500582 RCV004998934 RCV005424202

NM_001355436.2(SPTB):c.4291C>T (p.Arg1431Ter)

SNV
Germline

Chr14:64779907

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary spherocytosis type 2
Chudley-McCullough syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA7230343

rs_757836263

6 SubmittersRCV001507841 RCV004762150 RCV004813174

NM_000179.3(MSH6):c.1198G>T (p.Glu400Ter)

SNV
Germline

Chr2:47799181

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346743399

rs_1396658541

4 SubmittersRCV001525709 RCV001873675 RCV003451795

NM_000179.3(MSH6):c.*6C>T

SNV
Germline

Chr2:47806866

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome
not specified
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA073355

rs_758445380

5 SubmittersRCV001525821 RCV001597290 RCV004008875 RCV005237876 RCV005428407

NM_000249.4(MLH1):c.885-15T>G

SNV
Germline

Chr3:37020295

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA038734

rs_773112917

4 SubmittersRCV001525126 RCV003594131 RCV004808085

NM_000535.7(PMS2):c.803A>G (p.Tyr268Cys)

SNV
Germline

Chr7:5997326

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA366743601

rs_1347758423

3 SubmittersRCV001524761 RCV004808082

NM_006218.4(PIK3CA):c.344G>C (p.Arg115Pro)

SNV
Germline/somatic

Chr3:179199169

Pathogenic/Likely pathogenic

CLAPO syndrome
MACRODACTYLY, SOMATIC
Megalencephaly-capillary malformation-polymicrogyria syndrome
PIK3CA-related disorder
PIK3CA related overgrowth syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA355272733

rs_200018596

5 SubmittersRCV000709696 RCV000709695 RCV001526501 RCV002280185 RCV003458229

NM_006218.4(PIK3CA):c.3104C>T (p.Ala1035Val)

SNV
Germline/somatic

Chr3:179234261

Pathogenic

Megalencephaly-capillary malformation-polymicrogyria syndrome
PIK3CA related overgrowth syndrome

Criteria Provided
Single Submitter

CA355285711

rs_1242945375

2 SubmittersRCV001526504 RCV003234076

NM_000535.7(PMS2):c.706-2A>G

SNV
Germline

Chr7:5997425

Likely pathogenic

Hereditary nonpolyposis colon cancer
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 4
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA051177

rs_745487791

5 SubmittersRCV001527064 RCV001873720 RCV001780396 RCV004789655 RCV002368555

NM_022552.5(DNMT3A):c.1757G>T (p.Cys586Phe)

SNV
Germline

Chr2:25244249

Pathogenic

Tatton-Brown-Rahman overgrowth syndrome

Criteria Provided
Single Submitter

CA346071842

rs_754506713

1 SubmittersRCV001527373

NM_018344.6(SLC29A3):c.401G>A (p.Arg134His)

SNV
Germline

Chr10:71351579

Conflicting classifications of pathogenicity

H syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5542927

rs_761175955

3 SubmittersRCV001882603 RCV001814446

NM_015272.5(RPGRIP1L):c.1351-11A>G

SNV
Germline

Chr16:53658475

Pathogenic/Likely pathogenic

Meckel syndrome, type 5
Joubert syndrome 7
Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA8057823

rs_750076702

4 SubmittersRCV001543698 RCV003127988 RCV003771669 RCV005005957

NM_022552.5(DNMT3A):c.76G>A (p.Gly26Arg)

SNV
Germline

Chr2:25300240

Conflicting classifications of pathogenicity

Condition: not provided
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A-related disorder

Criteria Provided
Conflicting Classifications

CA1556554

rs_781524740

3 SubmittersRCV001548200 RCV003584975 RCV003900789

NM_000251.3(MSH2):c.1658A>G (p.Asn553Ser)

SNV
Germline

Chr2:47466805

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Inherited MMR deficiency (Lynch syndrome)

Criteria Provided
Conflicting Classifications

CA346728016

rs_2104185998

6 SubmittersRCV001544966 RCV001859363 RCV001806235 RCV004008923 RCV005237887

NM_022552.5(DNMT3A):c.835G>A (p.Asp279Asn)

SNV
Germline

Chr2:25248057

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Tatton-Brown-Rahman overgrowth syndrome

Criteria Provided
Conflicting Classifications

CA346075768

rs_1203141216

3 SubmittersRCV001550708 RCV002570687 RCV002568322

NM_022552.5(DNMT3A):c.2207G>A (p.Arg736His)

SNV
Germline

Chr2:25240417

Conflicting classifications of pathogenicity

Condition: not provided
Tatton-Brown-Rahman overgrowth syndrome

Criteria Provided
Conflicting Classifications

CA1555700

rs_139293773

3 SubmittersRCV001557227 RCV003227525

NM_000535.7(PMS2):c.23+1G>A

SNV
Germline

Chr7:6008996

Likely pathogenic

Breast carcinoma
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366745215

rs_587782074

3 SubmittersRCV001559122 RCV002568385 RCV003470864

NM_006218.4(PIK3CA):c.277C>T (p.Arg93Trp)

SNV
Germline/somatic

Chr3:179199102

Pathogenic/Likely pathogenic

Condition: not provided
PIK3CA-related disorder
Neoplasm
PIK3CA related overgrowth syndrome
Megalencephaly-capillary malformation-polymicrogyria syndrome
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes

Criteria Provided
Multiple Submitters
No Conflicts

CA355272477

rs_1724342112

7 SubmittersRCV001563115 RCV004528517 RCV005232626 RCV002271660 RCV005253861 RCV005429355

NM_022552.5(DNMT3A):c.1851+3G>C

SNV
Unknown

Chr2:25244152

Likely pathogenic

Tatton-Brown-Rahman overgrowth syndrome

Criteria Provided
Single Submitter

CA2499215818

rs_2149288538

1 SubmittersRCV001563649

NM_001376571.1(MADD):c.3070C>T (p.Gln1024Ter)

SNV
Unknown

Chr11:47290215

Likely pathogenic

Deeah syndrome

Criteria Provided
Single Submitter

CA380345956

rs_148016422

1 SubmittersRCV001564052

NM_000251.3(MSH2):c.942+3A>C

SNV
Germline

Chr2:47414421

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA2499216028

rs_193922376

5 SubmittersRCV001565948 RCV001859406 RCV002449370 RCV003451813

NM_001127222.2(CACNA1A):c.3365G>A (p.Arg1122His)

SNV
Germline

Chr19:13286691

Conflicting classifications of pathogenicity

Condition: not provided
SUDDEN INFANT DEATH SYNDROME
Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2

Criteria Provided
Conflicting Classifications

CA9240350

rs_201647627

3 SubmittersRCV001564629 RCV001788589 RCV001882665

NM_000251.3(MSH2):c.1876G>T (p.Glu626Ter)

SNV
Germline

Chr2:47475141

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA346728504

rs_1667240403

4 SubmittersRCV001569176 RCV002414271 RCV003451818 RCV003594142

NM_006941.4(SOX10):c.1093G>C (p.Gly365Arg)

SNV
Germline

Chr22:37973803

Conflicting classifications of pathogenicity

Condition: not provided
Waardenburg syndrome type 4C
PCWH syndrome
Waardenburg syndrome type 2E

Criteria Provided
Conflicting Classifications

CA10228526

rs_748755187

5 SubmittersRCV001572705 RCV002501926

NM_006218.4(PIK3CA):c.3012G>A (p.Met1004Ile)

SNV
Germline

Chr3:179234169

Pathogenic/Likely pathogenic

Condition: not provided
PIK3CA related overgrowth syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16602195

rs_2108429272

3 SubmittersRCV001577605 RCV002472380

NM_022552.5(DNMT3A):c.2478+1G>A

SNV
Germline

Chr2:25236935

Pathogenic/Likely pathogenic

Condition: not provided
Tatton-Brown-Rahman overgrowth syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA1555570

rs_762213449

2 SubmittersRCV001582987 RCV005094823

NM_003172.4(SURF1):c.491C>T (p.Thr164Ile)

SNV
Germline

Chr9:133353773

Conflicting classifications of pathogenicity

Condition: not provided
Leigh syndrome
Mitochondrial complex IV deficiency, nuclear type 1

Criteria Provided
Conflicting Classifications

CA200832964

rs_782214884

3 SubmittersRCV001589557 RCV001866121 RCV003106238

NM_022552.5(DNMT3A):c.890G>A (p.Trp297Ter)

SNV
Germline

Chr2:25247715

Pathogenic/Likely pathogenic

Tatton-Brown-Rahman overgrowth syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA43706533

rs_944608317

2 SubmittersRCV001706757 RCV003222340

NM_022552.5(DNMT3A):c.855+1G>A

SNV
Germline

Chr2:25248036

Likely pathogenic

Tatton-Brown-Rahman overgrowth syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA1556282

rs_772041639

2 SubmittersRCV001706950

NM_004958.4(MTOR):c.5930C>G (p.Thr1977Arg)

SNV
Germline

Chr1:11128107

Pathogenic

Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes

Reviewed By Expert Panel

CA338394655

rs_587777893

1 SubmittersRCV001837028

NM_004958.4(MTOR):c.4468T>C (p.Trp1490Arg)

SNV
Germline

Chr1:11157153

Likely pathogenic

Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes

Reviewed By Expert Panel

CA338371453

rs_2100566800

1 SubmittersRCV001837032

NM_004958.4(MTOR):c.5005G>T (p.Ala1669Ser)

SNV
Germline

Chr1:11139429

Likely pathogenic

Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes

Reviewed By Expert Panel

CA338402061

rs_2100477650

1 SubmittersRCV001837036

NM_001378615.1(CC2D2A):c.712G>T (p.Glu238Ter)

SNV
Germline

Chr4:15511418

Pathogenic/Likely pathogenic

Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome 9
Meckel syndrome, type 6
COACH syndrome 2
Retinitis pigmentosa 93

Criteria Provided
Multiple Submitters
No Conflicts

CA2863463

rs_761213221

4 SubmittersRCV001723363 RCV002539748 RCV005023216

NM_000377.3(WAS):c.206G>C (p.Cys69Ser)

SNV
Germline

ChrX:48684356

Conflicting classifications of pathogenicity

Condition: not provided
X-linked severe congenital neutropenia
Thrombocytopenia 1
Wiskott-Aldrich syndrome
WAS-related disorder

Criteria Provided
Conflicting Classifications

CA10403869

rs_374283590

3 SubmittersRCV001725810 RCV002073401 RCV003401658

NM_000179.3(MSH6):c.2938G>T (p.Glu980Ter)

SNV
Germline

Chr2:47800921

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colon cancer
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346756215

rs_2104431856

3 SubmittersRCV001732814 RCV005094912 RCV003451869

NM_000251.3(MSH2):c.2275G>A (p.Gly759Arg)

SNV
Germline

Chr2:47478336

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346729809

rs_63749854

4 SubmittersRCV001763145 RCV005094975 RCV005374786 RCV004040161

NM_022552.5(DNMT3A):c.1976G>A (p.Arg659His)

SNV
Germline

Chr2:25241668

Conflicting classifications of pathogenicity

Condition: not provided
DNMT3A-related disorder
Inborn genetic diseases
Tatton-Brown-Rahman overgrowth syndrome

Criteria Provided
Conflicting Classifications

CA1555804

rs_752434188

4 SubmittersRCV001769699 RCV004746450 RCV005330907 RCV004728802

NM_001378615.1(CC2D2A):c.932A>G (p.Asp311Gly)

SNV
Germline

Chr4:15515919

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 6
COACH syndrome 2
Retinitis pigmentosa 93
Joubert syndrome 9
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2863522

rs_375247004

4 SubmittersRCV001753222 RCV001868722 RCV002478000 RCV004968278

NM_022552.5(DNMT3A):c.899T>G (p.Leu300Arg)

SNV
Germline

Chr2:25247706

Conflicting classifications of pathogenicity

Condition: not provided
Tatton-Brown-Rahman overgrowth syndrome

Criteria Provided
Conflicting Classifications

CA346075201

rs_1180980391

2 SubmittersRCV001753354 RCV005416127

NM_000535.7(PMS2):c.1624A>C (p.Thr542Pro)

SNV
Germline

Chr7:5987141

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Hereditary cancer-predisposing syndrome
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA366741459

rs_1425816147

5 SubmittersRCV001768213 RCV002540683 RCV004009037 RCV002405310 RCV003154042

NM_000179.3(MSH6):c.1453C>T (p.Gln485Ter)

SNV
Germline

Chr2:47799436

Pathogenic/Likely pathogenic

Lynch syndrome
Mismatch repair cancer syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA346745726

rs_1114167803

2 SubmittersRCV001775048 RCV005361719

NM_000179.3(MSH6):c.4001+1G>A

SNV
Germline

Chr2:47806652

Pathogenic/Likely pathogenic

Lynch syndrome 5
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA346761611

rs_1114167729

4 SubmittersRCV001775212 RCV002370312 RCV003594156

NM_022552.5(DNMT3A):c.1555-1G>A

SNV
Germline

Chr2:25244653

Pathogenic

Tatton-Brown-Rahman overgrowth syndrome

Criteria Provided
Single Submitter

CA346072314

rs_759936287

1 SubmittersRCV001775240

NM_003172.4(SURF1):c.867G>A (p.Trp289Ter)

SNV
Germline

Chr9:133351949

Pathogenic

Leigh syndrome

Criteria Provided
Single Submitter

CA375693354

rs_2119079745

1 SubmittersRCV001779460

NM_000179.3(MSH6):c.2872C>T (p.Gln958Ter)

SNV
Germline

Chr2:47800855

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colon cancer
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA346755992

rs_1553414236

4 SubmittersRCV001779491 RCV002034538 RCV003451926 RCV004009051

NM_024120.5(NDUFAF5):c.604C>T (p.Gln202Ter)

SNV
Germline

Chr20:13801570

Pathogenic/Likely pathogenic

Leigh syndrome
Condition: not provided
Mitochondrial complex I deficiency, nuclear type 16

Criteria Provided
Multiple Submitters
No Conflicts

CA9767821

rs_368690277

4 SubmittersRCV001779523 RCV002307759 RCV003470897

NM_001378615.1(CC2D2A):c.3763C>T (p.Arg1255Ter)

SNV
Germline

Chr4:15574318

Pathogenic/Likely pathogenic

Meckel syndrome, type 6
Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 6
COACH syndrome 2
Retinitis pigmentosa 93
Joubert syndrome 9

Criteria Provided
Multiple Submitters
No Conflicts

CA356424248

rs_1271825377

3 SubmittersRCV002471153 RCV003772133 RCV005038317

NM_000179.3(MSH6):c.3982C>T (p.Gln1328Ter)

SNV
Germline

Chr2:47806632

Pathogenic

Lynch syndrome 5
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA346761581

rs_2104567084

4 SubmittersRCV003451930 RCV002359254 RCV001784680

NM_022552.5(DNMT3A):c.1554+1G>A

SNV
Germline

Chr2:25245252

Likely pathogenic

Tatton-Brown-Rahman overgrowth syndrome

Criteria Provided
Single Submitter

CA1555976

rs_766110518

1 SubmittersRCV003832391

NM_153704.6(TMEM67):c.2374A>G (p.Arg792Gly)

SNV
Germline

Chr8:93804813

Conflicting classifications of pathogenicity

Joubert syndrome 6
COACH syndrome 1
6 conditions
Joubert syndrome
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

CA371698151

rs_1815059174

4 SubmittersRCV001785366 RCV002478012 RCV002478013 RCV003772169

NM_001165963.4(SCN1A):c.2045G>T (p.Gly682Val)

SNV
Germline

Chr2:166042423

Conflicting classifications of pathogenicity

SUDDEN INFANT DEATH SYNDROME
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA349066188

rs_1697296215

3 SubmittersRCV001787410 RCV002422851 RCV004779139

NM_000335.5(SCN5A):c.3837+12C>T

SNV
Germline

Chr3:38566397

Conflicting classifications of pathogenicity

SUDDEN INFANT DEATH SYNDROME
Condition: not provided
Brugada syndrome 1

Criteria Provided
Conflicting Classifications

CA062323

rs_368550655

3 SubmittersRCV001787416 RCV003541667 RCV004698554

NM_001242896.3(DEPDC5):c.2446C>T (p.Gln816Ter)

SNV
Germline

Chr22:31838776

Pathogenic/Likely pathogenic

SUDDEN INFANT DEATH SYNDROME
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA411286825

rs_2148968418

2 SubmittersRCV001787417 RCV002463033

NM_001242896.3(DEPDC5):c.2105-1G>A

SNV
Germline

Chr22:31833914

Likely pathogenic

SUDDEN INFANT DEATH SYNDROME

Criteria Provided
Single Submitter

CA10196597

rs_781125997

1 SubmittersRCV001787420

NM_001743.6(CALM2):c.340G>A (p.Gly114Arg)

SNV
Germline

Chr2:47161804

Pathogenic

SUDDEN INFANT DEATH SYNDROME

No Assertion Criteria Provided

CA346719185

rs_2103823712

1 SubmittersRCV001787705

NM_000251.3(MSH2):c.2458+976A>G

SNV
Germline

Chr2:47479495

Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA2573051964

rs_2104420229

3 SubmittersRCV001789723 RCV002280190

NC_012920.1(MT-ND1):m.3685T>C

SNV
Germline

ChrMT:3685

Likely pathogenic

Leigh syndrome

No Assertion Criteria Provided

CA414773304

rs_1603219079

1 SubmittersRCV001797044

NM_003172.4(SURF1):c.575G>A (p.Arg192Gln)

SNV
Germline

Chr9:133352707

Pathogenic/Likely pathogenic

Leigh syndrome
Mitochondrial complex IV deficiency, nuclear type 1
Mitochondrial complex IV deficiency, nuclear type 1
Charcot-Marie-Tooth disease type 4K

Criteria Provided
Multiple Submitters
No Conflicts

CA200832499

rs_782021521

4 SubmittersRCV001797902 RCV002246514 RCV002503285

NM_006941.4(SOX10):c.395C>G (p.Ala132Gly)

SNV
Germline

Chr22:37983390

Pathogenic

PCWH syndrome

Criteria Provided
Single Submitter

CA411500173

rs_2145776948

1 SubmittersRCV001799539

NM_006941.4(SOX10):c.850G>T (p.Glu284Ter)

SNV
Germline

Chr22:37974046

Likely pathogenic

PCWH syndrome

Criteria Provided
Single Submitter

CA411493483

rs_2145761680

1 SubmittersRCV001799541

NM_000251.3(MSH2):c.1277-12A>G

SNV
Germline

Chr2:47445536

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA532338029

rs_1181142850

3 SubmittersRCV001801078 RCV002541341 RCV005247288

NM_000251.3(MSH2):c.1371T>G (p.Thr457=)

SNV
Unknown

Chr2:47445642

Conflicting classifications of pathogenicity

not specified
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA425955617

rs_2103758938

2 SubmittersRCV001801086 RCV005247289

NM_000251.3(MSH2):c.351G>A (p.Trp117Ter)

SNV
Germline

Chr2:47408540

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346730094

rs_1558457486

5 SubmittersRCV002544386 RCV002458615 RCV001801163 RCV003451942

NM_022552.5(DNMT3A):c.2322+1G>A

SNV
Germline

Chr2:25240301

Pathogenic

Tatton-Brown-Rahman overgrowth syndrome

Criteria Provided
Single Submitter

CA16021329

rs_903011938

1 SubmittersRCV001801261

NM_022552.5(DNMT3A):c.875T>C (p.Ile292Thr)

SNV
Germline

Chr2:25247730

Conflicting classifications of pathogenicity

Condition: not provided
Tatton-Brown-Rahman overgrowth syndrome

Criteria Provided
Conflicting Classifications

CA1556257

rs_777306476

3 SubmittersRCV001806945 RCV002542370

NM_000251.3(MSH2):c.-10A>G

SNV
Germline

Chr2:47403182

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA026963

rs_765201464

3 SubmittersRCV001804483 RCV001869513 RCV004009091

NM_000251.3(MSH2):c.1077-13T>C

SNV
Germline

Chr2:47429729

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA2495843564

rs_1673926348

2 SubmittersRCV001804553 RCV005247290

NM_000535.7(PMS2):c.163+1G>T

SNV
Germline

Chr7:6005891

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA366744941

rs_1064795705

4 SubmittersRCV001805683 RCV003451950 RCV002541442

NM_022552.5(DNMT3A):c.1647C>A (p.Cys549Ter)

SNV
Germline

Chr2:25244560

Pathogenic

6 conditions
Tatton-Brown-Rahman overgrowth syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA346072104

rs_574130689

2 SubmittersRCV001807541 RCV003772257

NM_001376571.1(MADD):c.2383C>T (p.Arg795Ter)

SNV
Germline

Chr11:47285166

Likely pathogenic

Deeah syndrome

Criteria Provided
Single Submitter

CA380339502

rs_1327470716

1 SubmittersRCV001813903

NM_014159.7(SETD2):c.603A>G (p.Thr201=)

SNV
Germline

Chr3:47124033

Conflicting classifications of pathogenicity

Luscan-Lumish syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA433602984

rs_2043221625

2 SubmittersRCV005095232 RCV001814844

NM_001376571.1(MADD):c.1291-2A>G

SNV
Germline

Chr11:47281573

Likely pathogenic

Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia
Deeah syndrome

Criteria Provided
Single Submitter

CA5974099

rs_756420276

1 SubmittersRCV001814845

NM_001376571.1(MADD):c.310C>T (p.Arg104Ter)

SNV
Germline

Chr11:47274810

Likely pathogenic

Deeah syndrome

Criteria Provided
Single Submitter

CA5973838

rs_766120355

1 SubmittersRCV001814943

NM_000377.3(WAS):c.1150C>T (p.Pro384Ser)

SNV
Germline

ChrX:48688878

Conflicting classifications of pathogenicity

not specified
X-linked severe congenital neutropenia
Thrombocytopenia 1
Wiskott-Aldrich syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10404041

rs_782761074

4 SubmittersRCV001817169 RCV002489869 RCV003883705

NM_022552.5(DNMT3A):c.1385C>T (p.Ala462Val)

SNV
Germline

Chr2:25246204

Conflicting classifications of pathogenicity

Tatton-Brown-Rahman overgrowth syndrome
not specified
DNMT3A-related disorder

Criteria Provided
Conflicting Classifications

CA1556047

rs_200845575

4 SubmittersRCV002542576 RCV001819492 RCV003968578

NM_000179.3(MSH6):c.576A>G (p.Glu192=)

SNV
Germline

Chr2:47796012

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA425993058

rs_2104237282

3 SubmittersRCV001819583 RCV002359272 RCV005421038

NM_014159.7(SETD2):c.3168G>A (p.Ser1056=)

SNV
Germline

Chr3:47121468

Conflicting classifications of pathogenicity

not specified
Luscan-Lumish syndrome
Rabin-Pappas syndrome
Intellectual developmental disorder, autosomal dominant 70
SETD2-related disorder

Criteria Provided
Conflicting Classifications

CA2363429

rs_768944836

3 SubmittersRCV001822548 RCV003224583 RCV004536343

NM_000377.3(WAS):c.192G>A (p.Trp64Ter)

SNV
Germline

ChrX:48684342

Pathogenic

Condition: not provided
Thrombocytopenia 1
X-linked severe congenital neutropenia
Wiskott-Aldrich syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA412866362

rs_2147262855

2 SubmittersRCV001817745 RCV002542702

NM_014159.7(SETD2):c.5219G>A (p.Arg1740Gln)

SNV
Germline

Chr3:47088171

Pathogenic

Luscan-Lumish syndrome
Condition: not provided
Intellectual developmental disorder, autosomal dominant 70

Criteria Provided
Single Submitter

CA352511119

rs_2107651195

3 SubmittersRCV001823014 RCV002259402 RCV002467456

NM_000251.3(MSH2):c.149C>T (p.Ala50Val)

SNV
Germline

Chr2:47403340

Conflicting classifications of pathogenicity

Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA346728950

rs_876658582

4 SubmittersRCV001823604 RCV002388685 RCV004009163 RCV001869818

NM_000251.3(MSH2):c.1319T>G (p.Leu440Arg)

SNV
Germline

Chr2:47445590

Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346724614

rs_587779084

3 SubmittersRCV002028795 RCV003170566 RCV003453952

NM_000535.7(PMS2):c.904-1G>A

SNV
Germline

Chr7:5992058

Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA052371

rs_779064342

2 SubmittersRCV001999638 RCV003453954

NM_015272.5(RPGRIP1L):c.1030-1G>T

SNV
Germline

Chr16:53671584

Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome 7
Meckel syndrome, type 5
COACH syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA395922704

rs_2151236867

2 SubmittersRCV002035891 RCV005008403

NM_024426.6(WT1):c.459C>T (p.Gly153=)

SNV
Germline

Chr11:32434902

Conflicting classifications of pathogenicity

Wilms tumor 1
11p partial monosomy syndrome
Drash syndrome
Frasier syndrome
8 conditions
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA473571744

rs_1309250331

3 SubmittersRCV001913745 RCV002507027 RCV005513156

NM_014159.7(SETD2):c.3087A>T (p.Glu1029Asp)

SNV
Germline

Chr3:47121549

Conflicting classifications of pathogenicity

Luscan-Lumish syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA73809473

rs_1024384980

2 SubmittersRCV001895517 RCV004953269

NM_003172.4(SURF1):c.703A>G (p.Met235Val)

SNV
Germline

Chr9:133352494

Conflicting classifications of pathogenicity

Leigh syndrome
Mitochondrial complex IV deficiency, nuclear type 1

Criteria Provided
Conflicting Classifications

CA375693698

rs_782437393

2 SubmittersRCV001986990 RCV003107937

NM_000179.3(MSH6):c.1237T>C (p.Trp413Arg)

SNV
Germline

Chr2:47799220

Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346743708

rs_2104330278

2 SubmittersRCV002012824 RCV003453943

NM_000179.3(MSH6):c.1574G>A (p.Ser525Asn)

SNV
Germline

Chr2:47799557

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Endometrial carcinoma
Mismatch repair cancer syndrome 3

Criteria Provided
Conflicting Classifications

CA067856

rs_765387680

4 SubmittersRCV001974052 RCV002258349 RCV005397224

NM_001378615.1(CC2D2A):c.2181+17T>G

SNV
Germline

Chr4:15541031

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Joubert syndrome
Meckel syndrome, type 6
Joubert syndrome 9
COACH syndrome 2
Retinitis pigmentosa 93

Criteria Provided
Conflicting Classifications

CA92534172

rs_1016233369

2 SubmittersRCV001877057 RCV005023330

NM_000540.3(RYR1):c.6860C>A (p.Ala2287Asp)

SNV
Germline

Chr19:38496923

Conflicting classifications of pathogenicity

RYR1-related disorder
Congenital myopathy with fiber type disproportion
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
Condition: not provided
Centronuclear myopathy

Criteria Provided
Conflicting Classifications

CA068817

rs_761154999

4 SubmittersRCV001943281 RCV002484475 RCV004720975 RCV004795346

NM_015272.5(RPGRIP1L):c.1171C>T (p.Gln391Ter)

SNV
Germline

Chr16:53664942

Pathogenic/Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome
Meckel syndrome, type 5
COACH syndrome 3
Joubert syndrome 7

Criteria Provided
Multiple Submitters
No Conflicts

CA395921612

rs_2151198563

2 SubmittersRCV001904296 RCV005006109

NM_015272.5(RPGRIP1L):c.3717G>A (p.Val1239=)

SNV
Germline

Chr16:53605599

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome 7
Meckel syndrome, type 5
COACH syndrome 3

Criteria Provided
Conflicting Classifications

CA281349877

rs_989489575

2 SubmittersRCV002032296 RCV002507837

NM_000179.3(MSH6):c.119C>T (p.Ala40Val)

SNV
Germline

Chr2:47783352

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA067311

rs_757957751

4 SubmittersRCV001893836 RCV002343987 RCV004010817

NM_024426.6(WT1):c.887+19C>G

SNV
Germline

Chr11:32427937

Conflicting classifications of pathogenicity

Wilms tumor 1
11p partial monosomy syndrome
Drash syndrome
Frasier syndrome
8 conditions

Criteria Provided
Conflicting Classifications

CA065748

rs_755113185

2 SubmittersRCV001949784 RCV002507596

NM_000540.3(RYR1):c.14130-2A>G

SNV
Germline

Chr19:38575917

Conflicting classifications of pathogenicity

RYR1-related disorder
Condition: not provided
Malignant hyperthermia, susceptibility to, 1
Central core myopathy
Congenital myopathy with fiber type disproportion
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome

Criteria Provided
Conflicting Classifications

CA405683232

rs_1457662393

4 SubmittersRCV001941795 RCV003325593 RCV004010985 RCV002497871

NM_000179.3(MSH6):c.3170T>A (p.Leu1057Ter)

SNV
Germline

Chr2:47801153

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Endometrial carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA346756746

rs_778741297

3 SubmittersRCV001941822 RCV003453860 RCV003471154

NM_024426.6(WT1):c.661+15G>T

SNV
Germline

Chr11:32434685

Conflicting classifications of pathogenicity

Drash syndrome
Wilms tumor 1
11p partial monosomy syndrome
Frasier syndrome
8 conditions

Criteria Provided
Conflicting Classifications

CA675621927

rs_1362460137

2 SubmittersRCV001999145 RCV002486588

NM_000179.3(MSH6):c.2845C>T (p.Gln949Ter)

SNV
Germline

Chr2:47800828

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346755827

rs_878853724

4 SubmittersRCV001938491 RCV002509719 RCV002441040 RCV003452162

NM_015272.5(RPGRIP1L):c.1978C>T (p.Gln660Ter)

SNV
Germline

Chr16:53652709

Pathogenic/Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
COACH syndrome 3
Meckel syndrome, type 5
Joubert syndrome 7

Criteria Provided
Multiple Submitters
No Conflicts

CA395916913

rs_2151125946

2 SubmittersRCV001953061 RCV005016915

NM_000251.3(MSH2):c.2591A>G (p.Asp864Gly)

SNV
Germline

Chr2:47480828

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346731036

rs_863224642

3 SubmittersRCV002018236 RCV005375023 RCV004011141

NM_000251.3(MSH2):c.2383C>A (p.Pro795Thr)

SNV
Germline

Chr2:47478444

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346730115

rs_2104406872

3 SubmittersRCV001947842 RCV002458796 RCV004808157

NM_000251.3(MSH2):c.2271C>G (p.Tyr757Ter)

SNV
Germline

Chr2:47478332

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346729802

rs_56076152

2 SubmittersRCV001987572 RCV003453822

NM_000535.7(PMS2):c.988+1G>C

SNV
Germline

Chr7:5991972

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366743052

rs_757110564

3 SubmittersRCV002013192 RCV002386875 RCV003453948

NM_000535.7(PMS2):c.1358T>G (p.Met453Arg)

SNV
Germline

Chr7:5987407

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Mismatch repair cancer syndrome 4
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA366742260

rs_1060503130

3 SubmittersRCV002040229 RCV002386874 RCV005397255

NM_024426.6(WT1):c.785-7T>G

SNV
Germline

Chr11:32428065

Conflicting classifications of pathogenicity

11p partial monosomy syndrome
Wilms tumor 1
Frasier syndrome
Drash syndrome
Wilms tumor 1

Criteria Provided
Conflicting Classifications

CA2573146212

rs_758280375

2 SubmittersRCV001954464 RCV004010886

NM_000179.3(MSH6):c.3266T>G (p.Leu1089Ter)

SNV
Germline

Chr2:47803513

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346758187

rs_1669748364

2 SubmittersRCV001967444 RCV003452188

NM_022552.5(DNMT3A):c.2409-1G>A

SNV
Germline

Chr2:25237006

Likely pathogenic

Tatton-Brown-Rahman overgrowth syndrome

Criteria Provided
Single Submitter

CA346069035

rs_866917013

1 SubmittersRCV002046908

NM_003172.4(SURF1):c.577C>T (p.Gln193Ter)

SNV
Germline

Chr9:133352705

Pathogenic

Leigh syndrome

Criteria Provided
Single Submitter

CA375693983

rs_782420522

1 SubmittersRCV001902056

NM_000251.3(MSH2):c.182A>T (p.Gln61Leu)

SNV
Germline

Chr2:47403373

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346729011

rs_587779113

5 SubmittersRCV002258326 RCV001951926 RCV004808160

NM_015272.5(RPGRIP1L):c.3323G>A (p.Cys1108Tyr)

SNV
Germline

Chr16:53622328

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
Condition: not provided
RPGRIP1L-related disorder
COACH syndrome 3
Meckel syndrome, type 5
Joubert syndrome 7

Criteria Provided
Conflicting Classifications

CA281358356

rs_919333754

4 SubmittersRCV002007877 RCV002243497 RCV004733435 RCV005016989

NM_000251.3(MSH2):c.114C>A (p.Asp38Glu)

SNV
Germline

Chr2:47403305

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346728812

rs_587779074

3 SubmittersRCV002022770 RCV003316859 RCV005445558

NM_000540.3(RYR1):c.947G>A (p.Arg316His)

SNV
Germline

Chr19:38448501

Conflicting classifications of pathogenicity

RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
King Denborough syndrome
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion
Malignant hyperthermia, susceptibility to, 1
not specified

Criteria Provided
Conflicting Classifications

CA073714

rs_193922761

5 SubmittersRCV001962291 RCV004009225 RCV005253914 RCV002490033 RCV005409051

NM_000535.7(PMS2):c.2007-2A>G

SNV
Germline

Chr7:5982993

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366738205

rs_587782336

5 SubmittersRCV001958970 RCV002423147 RCV002467458

NM_000251.3(MSH2):c.2527T>G (p.Cys843Gly)

SNV
Germline

Chr2:47480764

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
not specified

Criteria Provided
Conflicting Classifications

CA346730778

rs_1667495338

3 SubmittersRCV001971429 RCV004556846 RCV003493902

NM_000179.3(MSH6):c.3375C>T (p.Gly1125=)

SNV
Germline

Chr2:47803622

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA426122030

rs_765577023

4 SubmittersRCV001919953 RCV002458749 RCV005421054

NM_000540.3(RYR1):c.742G>T (p.Gly248Trp)

SNV
Germline

Chr19:38446710

Conflicting classifications of pathogenicity

RYR1-related disorder
not specified
Malignant hyperthermia, susceptibility to, 1
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome

Criteria Provided
Conflicting Classifications

CA069619

rs_1801086

4 SubmittersRCV002008037 RCV004699607 RCV004011032 RCV005025566

NM_001378615.1(CC2D2A):c.3688C>T (p.Arg1230Ter)

SNV
Germline

Chr4:15574243

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Condition: not provided
Joubert syndrome 9
Joubert syndrome 1
COACH syndrome 2
Retinitis pigmentosa 93
Meckel syndrome, type 6
Joubert syndrome 9

Criteria Provided
Multiple Submitters
No Conflicts

CA92519140

rs_1022325907

5 SubmittersRCV001919810 RCV002463064 RCV002554223 RCV003444065 RCV004796678

NM_000535.7(PMS2):c.1456G>C (p.Asp486His)

SNV
Germline

Chr7:5987309

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA366741923

rs_2128730228

4 SubmittersRCV001893643 RCV003167041 RCV004808152

NM_018344.6(SLC29A3):c.300+2T>C

SNV
Germline

Chr10:71323056

Pathogenic

H syndrome

Criteria Provided
Single Submitter

CA377129504

rs_2131797156

1 SubmittersRCV002021916

NM_000535.7(PMS2):c.1972C>T (p.Gln658Ter)

SNV
Germline

Chr7:5986793

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366739008

rs_1172837844

2 SubmittersRCV002035249 RCV003453843

NM_014159.7(SETD2):c.4792C>T (p.Arg1598Ter)

SNV
Germline

Chr3:47106044

Pathogenic

Luscan-Lumish syndrome

Criteria Provided
Single Submitter

CA352514806

rs_2107696360

1 SubmittersRCV001993212

NM_015272.5(RPGRIP1L):c.599T>G (p.Leu200Ter)

SNV
Germline

Chr16:53687896

Pathogenic/Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
COACH syndrome 3
Meckel syndrome, type 5
Joubert syndrome 7

Criteria Provided
Multiple Submitters
No Conflicts

CA8058080

rs_564992297

2 SubmittersRCV001993240 RCV002497860

NM_000179.3(MSH6):c.3646+1G>A

SNV
Germline

Chr2:47805708

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA346760638

rs_1553332772

5 SubmittersRCV001974193 RCV002243498 RCV004945854 RCV005361889

NM_000179.3(MSH6):c.3878C>G (p.Ala1293Gly)

SNV
Germline

Chr2:47806528

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA072242

rs_764835191

4 SubmittersRCV001924322 RCV002361252 RCV004010906 RCV003464246

NM_000251.3(MSH2):c.2356G>T (p.Glu786Ter)

SNV
Germline

Chr2:47478417

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA346729980

rs_2104405386

3 SubmittersRCV002000129 RCV003453852 RCV002442943

NM_024426.6(WT1):c.825C>G (p.Cys275Trp)

SNV
Germline

Chr11:32428018

Conflicting classifications of pathogenicity

Frasier syndrome
Wilms tumor 1
11p partial monosomy syndrome
Drash syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA065676

rs_200222400

2 SubmittersRCV002000244 RCV004970695

NM_001379500.1(COL18A1):c.107-12513C>T

SNV
Germline

Chr21:45455729

Conflicting classifications of pathogenicity

Condition: not provided
Knobloch syndrome 1

Criteria Provided
Conflicting Classifications

CA10065408

rs_375087150

2 SubmittersRCV002043714 RCV004729052

NM_024426.6(WT1):c.406C>A (p.Pro136Thr)

SNV
Germline

Chr11:32434955

Conflicting classifications of pathogenicity

Wilms tumor 1
11p partial monosomy syndrome
Drash syndrome
Frasier syndrome
Drash syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA064905

rs_748045691

3 SubmittersRCV001939994 RCV003471039 RCV004970492

NM_000251.3(MSH2):c.1061A>G (p.Asn354Ser)

SNV
Germline

Chr2:47416414

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346733251

rs_2104252754

3 SubmittersRCV001946483 RCV002290807 RCV002397967

NM_000251.3(MSH2):c.943-3T>C

SNV
Germline

Chr2:47416293

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA2573134983

rs_2104241966

2 SubmittersRCV001990089 RCV005247309

NM_001379500.1(COL18A1):c.2728G>A (p.Gly910Arg)

SNV
Germline

Chr21:45504416

Conflicting classifications of pathogenicity

Condition: not provided
Knobloch syndrome 1

Criteria Provided
Conflicting Classifications

CA10067440

rs_767090801

2 SubmittersRCV002004102 RCV002290834

NM_000377.3(WAS):c.373G>C (p.Gly125Arg)

SNV
Germline

ChrX:48685746

Likely pathogenic

Thrombocytopenia 1
Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia

Criteria Provided
Single Submitter

CA412867409

rs_2147263882

1 SubmittersRCV002004114

NM_024426.6(WT1):c.19C>A (p.Gln7Lys)

SNV
Germline

Chr11:32435342

Conflicting classifications of pathogenicity

Frasier syndrome
Wilms tumor 1
11p partial monosomy syndrome
Drash syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA379966561

rs_2133108011

2 SubmittersRCV002009830 RCV005301054

NM_000179.3(MSH6):c.2337T>A (p.Cys779Ter)

SNV
Germline

Chr2:47800320

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA346753406

rs_1553413707

3 SubmittersRCV001941846 RCV003453861 RCV003365601

NM_015272.5(RPGRIP1L):c.3221-2A>G

SNV
Germline

Chr16:53636514

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
COACH syndrome 3
Meckel syndrome, type 5
Joubert syndrome 7

Criteria Provided
Multiple Submitters
No Conflicts

CA8057326

rs_200448428

2 SubmittersRCV001994321 RCV005008350

NM_018344.6(SLC29A3):c.854C>T (p.Ser285Leu)

SNV
Germline

Chr10:71362034

Conflicting classifications of pathogenicity

H syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5543065

rs_773495153

2 SubmittersRCV001931182 RCV003167284

NM_024426.6(WT1):c.162C>A (p.Ser54Arg)

SNV
Germline

Chr11:32435199

Conflicting classifications of pathogenicity

Wilms tumor 1
11p partial monosomy syndrome
Drash syndrome
Frasier syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA379966253

rs_776954184

2 SubmittersRCV001931279 RCV005308602

NM_000179.3(MSH6):c.37A>T (p.Lys13Ter)

SNV
Germline

Chr2:47783270

Pathogenic

Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA346734527

rs_942019524

2 SubmittersRCV003453856 RCV002002526

NM_000179.3(MSH6):c.1095G>A (p.Trp365Ter)

SNV
Germline

Chr2:47799078

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA346741875

rs_1272484865

3 SubmittersRCV001941526 RCV003453857 RCV003170170

NM_000179.3(MSH6):c.3801+2T>G

SNV
Germline

Chr2:47806360

Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346761205

rs_1558392617

2 SubmittersRCV002032981 RCV002284495

NM_018344.6(SLC29A3):c.610+1G>A

SNV
Germline

Chr10:71351789

Likely pathogenic

H syndrome

Criteria Provided
Single Submitter

CA377110030

rs_1166563034

1 SubmittersRCV002005556

NM_001378615.1(CC2D2A):c.121C>T (p.Gln41Ter)

SNV
Germline

Chr4:15478804

Pathogenic/Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome 9
COACH syndrome 2
Meckel syndrome, type 6
Retinitis pigmentosa 93

Criteria Provided
Multiple Submitters
No Conflicts

CA356407240

rs_2108970120

2 SubmittersRCV001946878 RCV005025525

NM_018344.6(SLC29A3):c.625G>A (p.Gly209Arg)

SNV
Germline

Chr10:71356095

Conflicting classifications of pathogenicity

H syndrome

Criteria Provided
Conflicting Classifications

CA5543001

rs_779712924

2 SubmittersRCV001945018

NM_000179.3(MSH6):c.260+2T>C

SNV
Germline

Chr2:47783495

Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346735209

rs_1553408469

2 SubmittersRCV001991495 RCV003453944

NM_000179.3(MSH6):c.962C>G (p.Ser321Ter)

SNV
Germline

Chr2:47798945

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346740911

rs_1472853525

3 SubmittersRCV001970084 RCV002370609 RCV003453868

NM_000251.3(MSH2):c.1618A>G (p.Ser540Gly)

SNV
Germline

Chr2:47466765

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346727931

rs_1268933712

3 SubmittersRCV001911997 RCV002397820 RCV003464197

NM_001378615.1(CC2D2A):c.2625G>C (p.Ser875=)

SNV
Germline

Chr4:15555210

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Joubert syndrome
Meckel syndrome, type 6
Joubert syndrome 9
COACH syndrome 2
Retinitis pigmentosa 93

Criteria Provided
Conflicting Classifications

CA438389068

rs_765873247

2 SubmittersRCV002051357 RCV005023290

NM_024426.6(WT1):c.176A>G (p.Gln59Arg)

SNV
Germline

Chr11:32435185

Conflicting classifications of pathogenicity

Frasier syndrome
Wilms tumor 1
11p partial monosomy syndrome
Drash syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA379966225

rs_2133106426

2 SubmittersRCV001902527 RCV005513132

NM_024426.6(WT1):c.1240C>T (p.Gln414Ter)

SNV
Germline

Chr11:32396281

Pathogenic

Drash syndrome
11p partial monosomy syndrome
Wilms tumor 1
Frasier syndrome

Criteria Provided
Single Submitter

CA379959818

rs_2132939500

1 SubmittersRCV001956051

NM_000179.3(MSH6):c.3247G>T (p.Glu1083Ter)

SNV
Germline

Chr2:47803494

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346758113

rs_763844573

3 SubmittersRCV001949390 RCV002324407 RCV003453879

NM_000179.3(MSH6):c.2758A>T (p.Lys920Ter)

SNV
Germline

Chr2:47800741

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA346755434

rs_2104422674

3 SubmittersRCV001972767 RCV003453880 RCV005370078

NM_000535.7(PMS2):c.325G>T (p.Glu109Ter)

SNV
Germline

Chr7:6003718

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366744579

rs_63749862

3 SubmittersRCV002039555 RCV002324232 RCV003451982

NM_000251.3(MSH2):c.199A>C (p.Met67Leu)

SNV
Germline

Chr2:47403390

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346729045

rs_768824654

3 SubmittersRCV001925187 RCV004010822 RCV004042547

NM_000535.7(PMS2):c.3G>T (p.Met1Ile)

SNV
Germline

Chr7:6009017

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366745249

rs_1554309086

2 SubmittersRCV001950104 RCV003452184

NM_000535.7(PMS2):c.2341C>T (p.Gln781Ter)

SNV
Germline

Chr7:5977692

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366735922

rs_587780054

4 SubmittersRCV001950116 RCV002442892 RCV003452185

NM_015272.5(RPGRIP1L):c.2451C>A (p.Tyr817Ter)

SNV
Germline

Chr16:53645857

Pathogenic/Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
COACH syndrome 3
Meckel syndrome, type 5
Joubert syndrome 7
RPGRIP1L-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA395914594

rs_145807002

3 SubmittersRCV001972569 RCV005016953 RCV004728993

NM_003172.4(SURF1):c.74G>A (p.Trp25Ter)

SNV
Germline

Chr9:133356301

Conflicting classifications of pathogenicity

Leigh syndrome
Condition: not provided
Mitochondrial complex IV deficiency, nuclear type 1

Criteria Provided
Conflicting Classifications

CA375695075

rs_1187982748

4 SubmittersRCV001951384 RCV002275298 RCV004785417

NM_024426.6(WT1):c.733C>T (p.Pro245Ser)

SNV
Germline

Chr11:32428548

Conflicting classifications of pathogenicity

Drash syndrome
Wilms tumor 1
11p partial monosomy syndrome
Frasier syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA379963382

rs_2133075412

2 SubmittersRCV002033597 RCV005301065

NM_015272.5(RPGRIP1L):c.2684-1G>A

SNV
Germline

Chr16:53641476

Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome 7
Meckel syndrome, type 5
COACH syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA395913269

rs_2151060257

2 SubmittersRCV002033536 RCV005017020

NM_000251.3(MSH2):c.1981A>T (p.Lys661Ter)

SNV
Germline

Chr2:47475246

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346728871

rs_1553368707

3 SubmittersRCV002047131 RCV002422898 RCV003451983

NM_000535.7(PMS2):c.4G>T (p.Glu2Ter)

SNV
Germline

Chr7:6009016

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA366745246

rs_1554309080

3 SubmittersRCV001958693 RCV003453883 RCV002334976

NM_015272.5(RPGRIP1L):c.3220+1G>A

SNV
Germline

Chr16:53637694

Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome 7
COACH syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA281369136

rs_969617857

2 SubmittersRCV002003648 RCV005361897

NM_022552.5(DNMT3A):c.2678G>A (p.Trp893Ter)

SNV
Germline

Chr2:25234340

Pathogenic

Tatton-Brown-Rahman overgrowth syndrome

Criteria Provided
Single Submitter

CA1555476

rs_750515748

1 SubmittersRCV002030720

NM_015272.5(RPGRIP1L):c.2958+1G>T

SNV
Germline

Chr16:53641032

Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome 7
Meckel syndrome, type 5
COACH syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA395926904

rs_2151056579

2 SubmittersRCV002018582 RCV002498050

NM_000377.3(WAS):c.1388C>T (p.Ser463Leu)

SNV
Germline

ChrX:48689369

Conflicting classifications of pathogenicity

X-linked severe congenital neutropenia
Thrombocytopenia 1
Wiskott-Aldrich syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10404086

rs_782636781

3 SubmittersRCV001890157 RCV002552265

NM_000535.7(PMS2):c.1239A>G (p.Lys413=)

SNV
Germline

Chr7:5987526

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Condition: not provided
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA453748343

rs_1244752544

5 SubmittersRCV001906739 RCV002370498 RCV004010840 RCV004598160 RCV005421056

NM_003172.4(SURF1):c.169G>A (p.Glu57Lys)

SNV
Germline

Chr9:133354895

Conflicting classifications of pathogenicity

Leigh syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA200833523

rs_782410389

2 SubmittersRCV001960044 RCV004042082

NM_001379500.1(COL18A1):c.1459C>T (p.Arg487Ter)

SNV
Germline

Chr21:45480706

Pathogenic

Condition: not provided
Knobloch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10066354

rs_768055690

2 SubmittersRCV001922016 RCV005409066

NM_000377.3(WAS):c.803G>A (p.Arg268Gln)

SNV
Germline

ChrX:48688325

Conflicting classifications of pathogenicity

X-linked severe congenital neutropenia
Thrombocytopenia 1
Wiskott-Aldrich syndrome
not specified

Criteria Provided
Conflicting Classifications

CA10403992

rs_376560886

3 SubmittersRCV001965751 RCV005432873

NM_000251.3(MSH2):c.646-2A>C

SNV
Germline

Chr2:47412412

Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346731597

rs_587779169

3 SubmittersRCV002001414 RCV002361357 RCV003453930

NM_006941.4(SOX10):c.481C>T (p.Arg161Cys)

SNV
Germline

Chr22:37978083

Pathogenic/Likely pathogenic

Condition: not provided
Deafness with anatomical inner ear anomalies
Waardenburg syndrome type 2E
Waardenburg syndrome type 4C
PCWH syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA411497985

rs_2145768544

3 SubmittersRCV001909314 RCV003155439 RCV003328487

NM_014159.7(SETD2):c.4375C>T (p.Arg1459Ter)

SNV
Germline

Chr3:47120261

Pathogenic

Luscan-Lumish syndrome

Criteria Provided
Single Submitter

CA352517540

rs_2107739635

1 SubmittersRCV001984731

NM_024426.6(WT1):c.1016+1G>A

SNV
Germline

Chr11:32416489

Likely pathogenic

Wilms tumor 1
11p partial monosomy syndrome
Drash syndrome
Frasier syndrome

Criteria Provided
Single Submitter

CA379961375

rs_2133032244

1 SubmittersRCV002043484

NM_000179.3(MSH6):c.2111C>G (p.Ala704Gly)

SNV
Germline

Chr2:47800094

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA068474

rs_370237509

4 SubmittersRCV001892435 RCV002422964 RCV004808143

NM_015272.5(RPGRIP1L):c.2067A>G (p.Glu689=)

SNV
Germline

Chr16:53652620

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
COACH syndrome 3
Meckel syndrome, type 5
Joubert syndrome 7

Criteria Provided
Conflicting Classifications

CA281343913

rs_890062959

2 SubmittersRCV001948838 RCV005016897

NM_000377.3(WAS):c.382T>C (p.Phe128Leu)

SNV
Germline

ChrX:48685755

Pathogenic

Thrombocytopenia 1
Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia

Criteria Provided
Single Submitter

CA412867468

rs_2147263906

1 SubmittersRCV001928082

NM_024426.6(WT1):c.1016+2T>G

SNV
Germline

Chr11:32416488

Likely pathogenic

Drash syndrome
Wilms tumor 1
11p partial monosomy syndrome
Frasier syndrome

Criteria Provided
Single Submitter

CA379961370

rs_1852674417

1 SubmittersRCV001983497

NM_000179.3(MSH6):c.824G>C (p.Ser275Thr)

SNV
Germline

Chr2:47798807

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA073476

rs_774586054

3 SubmittersRCV002027023 RCV002425429 RCV004011154

NM_003172.4(SURF1):c.538G>C (p.Gly180Arg)

SNV
Germline

Chr9:133352744

Likely pathogenic

Leigh syndrome

Criteria Provided
Single Submitter

CA375694063

rs_1444801979

1 SubmittersRCV002027283

NM_000251.3(MSH2):c.2054T>G (p.Ile685Arg)

SNV
Germline

Chr2:47476415

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346729151

rs_1667303602

3 SubmittersRCV001983983 RCV002423208 RCV003453939

NM_000377.3(WAS):c.1339-2A>G

SNV
Germline

ChrX:48689318

Pathogenic/Likely pathogenic

Thrombocytopenia 1
Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA412873768

rs_2147267240

2 SubmittersRCV002012548 RCV003312034

NM_000377.3(WAS):c.778-1G>A

SNV
Germline

ChrX:48688299

Likely pathogenic

Wiskott-Aldrich syndrome

Criteria Provided
Single Submitter

CA412872144

rs_2147265861

1 SubmittersRCV002052149

NM_015272.5(RPGRIP1L):c.231-15T>G

SNV
Germline

Chr16:53692379

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Joubert syndrome
Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3

Criteria Provided
Conflicting Classifications

CA8058165

rs_762320051

2 SubmittersRCV002140993 RCV005017154

NM_000249.4(MLH1):c.2128A>G (p.Asn710Asp)

SNV
Germline

Chr3:37050510

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Conflicting Classifications

CA352068955

rs_1559595840

3 SubmittersRCV002168468 RCV004005416 RCV003464405

NM_024426.6(WT1):c.1017-11T>C

SNV
Germline

Chr11:32400055

Conflicting classifications of pathogenicity

Drash syndrome
Frasier syndrome
Wilms tumor 1
11p partial monosomy syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1962340583

rs_1564975924

2 SubmittersRCV002130925 RCV002258387

NM_001378615.1(CC2D2A):c.439-13T>G

SNV
Germline

Chr4:15510126

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome 9
Retinitis pigmentosa 93
COACH syndrome 2
Meckel syndrome, type 6

Criteria Provided
Conflicting Classifications

CA549889137

rs_1305181844

2 SubmittersRCV002122281 RCV005025704

NM_000251.3(MSH2):c.192C>A (p.Ile64=)

SNV
Germline

Chr2:47403383

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA426119503

rs_1395172053

5 SubmittersRCV002083858 RCV002256912 RCV002307837 RCV005247450

NM_024426.6(WT1):c.1448-13A>T

SNV
Germline

Chr11:32389192

Conflicting classifications of pathogenicity

Drash syndrome
Frasier syndrome
Wilms tumor 1
11p partial monosomy syndrome
6 conditions

Criteria Provided
Conflicting Classifications

CA2573146208

rs_768449767

2 SubmittersRCV002216958 RCV005042720

NM_000377.3(WAS):c.593C>T (p.Ala198Val)

SNV
Germline

ChrX:48686814

Conflicting classifications of pathogenicity

Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia
Thrombocytopenia 1
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA10403959

rs_200261212

4 SubmittersRCV002122483 RCV004681440 RCV005239229

NM_024426.6(WT1):c.66G>T (p.Thr22=)

SNV
Germline

Chr11:32435295

Conflicting classifications of pathogenicity

Wilms tumor 1
Drash syndrome
Frasier syndrome
11p partial monosomy syndrome
Hereditary cancer-predisposing syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA473773392

rs_1214646426

3 SubmittersRCV002076838 RCV002258362 RCV005288711

NM_024426.6(WT1):c.837C>T (p.Thr279=)

SNV
Germline

Chr11:32428006

Conflicting classifications of pathogenicity

Drash syndrome
Frasier syndrome
Wilms tumor 1
11p partial monosomy syndrome
Wilms tumor 1
Hereditary cancer-predisposing syndrome
6 conditions
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA473569645

rs_747613465

5 SubmittersRCV002149783 RCV004005406 RCV002256922 RCV005042733 RCV004965778

NM_017446.4(MRPL39):c.921+5G>A

SNV
Germline

Chr21:25592807

Pathogenic/Likely pathogenic

Leigh syndrome
Combined oxidative phosphorylation deficiency 59

No Assertion Criteria Provided

CA9985833

rs_375392547

2 SubmittersRCV002286587 RCV003445147

NM_017446.4(MRPL39):c.589-924G>A

SNV
Germline

Chr21:25598338

Pathogenic

Leigh syndrome
Combined oxidative phosphorylation deficiency 59
Mitochondrial disease

Criteria Provided
Single Submitter

CA637178735

rs_1209423257

3 SubmittersRCV002286589 RCV003445149 RCV004785532

NM_003172.4(SURF1):c.22C>T (p.Gln8Ter)

SNV
Germline

Chr9:133356432

Likely pathogenic

Leigh syndrome
SURF1-related disorder

Criteria Provided
Single Submitter

CA375695180

rs_1836590782

2 SubmittersRCV002222921 RCV004758881

NM_024120.5(NDUFAF5):c.519+2T>G

SNV
Germline

Chr20:13798502

Likely pathogenic

Leigh syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA408270262

rs_2147534220

2 SubmittersRCV002223037 RCV003660912

NM_022552.5(DNMT3A):c.1978T>C (p.Tyr660His)

SNV
Germline

Chr2:25241666

Likely pathogenic

Autism spectrum disorder
Tatton-Brown-Rahman overgrowth syndrome
Condition: not provided
Heyn-Sproul-Jackson syndrome
Acute myeloid leukemia
Tatton-Brown-Rahman overgrowth syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA346071360

rs_1674056899

3 SubmittersRCV002226414 RCV003238890 RCV005025733

NM_003172.4(SURF1):c.833+1G>C

SNV
Germline

Chr9:133352060

Pathogenic/Likely pathogenic

Leigh syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA375693424

rs_782609482

2 SubmittersRCV002240096

NM_000377.3(WAS):c.128G>A (p.Cys43Tyr)

SNV
Germline

ChrX:48683981

Likely pathogenic

Wiskott-Aldrich syndrome

No Assertion Criteria Provided

CA412865923

rs_2147262523

1 SubmittersRCV002245338

NM_000377.3(WAS):c.16A>G (p.Met6Val)

SNV
Germline

ChrX:48683869

Conflicting classifications of pathogenicity

not specified
Thrombocytopenia 1
Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia

Criteria Provided
Conflicting Classifications

CA10403829

rs_782730988

2 SubmittersRCV002248938 RCV003774705

NM_003482.4(KMT2D):c.4427C>G (p.Ser1476Cys)

SNV
Germline

Chr12:49046416

Conflicting classifications of pathogenicity

Kabuki syndrome 1
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA384646181

rs_1227169455

2 SubmittersRCV002250084 RCV004555897

NM_000251.3(MSH2):c.1511-1G>T

SNV
Germline

Chr2:47466657

Pathogenic/Likely pathogenic

Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA46684847

rs_267607964

2 SubmittersRCV002250121 RCV002391376

NM_000251.3(MSH2):c.2287G>C (p.Ala763Pro)

SNV
Germline

Chr2:47478348

Pathogenic/Likely pathogenic

Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346729832

rs_1318630651

2 SubmittersRCV002250122

NM_000535.7(PMS2):c.2444C>A (p.Ser815Ter)

SNV
Germline

Chr7:5977589

Pathogenic/Likely pathogenic

Condition: not provided
Lynch syndrome 4
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA366735532

rs_587779338

3 SubmittersRCV002254083 RCV003454051 RCV003759086

NM_006218.4(PIK3CA):c.3061T>C (p.Tyr1021His)

SNV
Germline/somatic

Chr3:179234218

Pathogenic/Likely pathogenic

PIK3CA related overgrowth syndrome
Cowden syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA355285420

rs_2108429509

4 SubmittersRCV003157111 RCV005095870

NM_000251.3(MSH2):c.564G>C (p.Glu188Asp)

SNV
Germline

Chr2:47410291

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346730927

rs_1553350883

3 SubmittersRCV002257137 RCV004005557

NM_018344.6(SLC29A3):c.400C>T (p.Arg134Cys)

SNV
Germline

Chr10:71351578

Pathogenic/Likely pathogenic

H syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA377109338

rs_1430557607

2 SubmittersRCV002260484

NM_002495.4(NDUFS4):c.350+1G>A

SNV
Germline/somatic

Chr5:53646406

Pathogenic/Likely pathogenic

Condition: not provided
Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA359719915

rs_1260453815

4 SubmittersRCV002261480 RCV002307852 RCV003464420

NM_000051.4(ATM):c.201T>G (p.Tyr67Ter)

SNV
Germline

Chr11:108229193

Likely pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

CA382521248

rs_1555055083

1 SubmittersRCV002267183

NM_002577.4(PAK2):c.1303G>A (p.Glu435Lys)

SNV
Germline

Chr3:196820520

Pathogenic

Knobloch syndrome

No Assertion Criteria Provided

CA355643381

rs_2108773003

1 SubmittersRCV002267712

NM_000179.3(MSH6):c.1813A>G (p.Thr605Ala)

SNV
Germline

Chr2:47799796

Conflicting classifications of pathogenicity

not specified
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA068168

rs_780167298

3 SubmittersRCV002269192 RCV004808241 RCV003759091

NM_022552.5(DNMT3A):c.1243C>T (p.Gln415Ter)

SNV
Germline

Chr2:25246656

Pathogenic

Tatton-Brown-Rahman overgrowth syndrome

Criteria Provided
Single Submitter

CA1556098

rs_754223052

1 SubmittersRCV002273282

NM_006218.4(PIK3CA):c.344G>T (p.Arg115Leu)

SNV
Germline/somatic

Chr3:179199169

Conflicting classifications of pathogenicity

Condition: not provided
Cowden syndrome
PIK3CA related overgrowth syndrome

Criteria Provided
Conflicting Classifications

CA88556623

rs_200018596

3 SubmittersRCV002280087 RCV003096320 RCV003458242

NM_022552.5(DNMT3A):c.2311C>G (p.Arg771Gly)

SNV
Germline

Chr2:25240313

Likely pathogenic

Tatton-Brown-Rahman overgrowth syndrome

Criteria Provided
Single Submitter

CA346069644

rs_779626155

1 SubmittersRCV002289228

NM_000179.3(MSH6):c.2909G>A (p.Trp970Ter)

SNV
Germline

Chr2:47800892

Pathogenic/Likely pathogenic

Colorectal cancer
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346756148

rs_2104430094

3 SubmittersRCV002290230 RCV003454080

NM_014159.7(SETD2):c.7021C>T (p.Pro2341Ser)

SNV
Germline

Chr3:47046564

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Luscan-Lumish syndrome

Criteria Provided
Conflicting Classifications

CA352515618

rs_2039539616

3 SubmittersRCV002300993 RCV004526924 RCV005096098

NM_000251.3(MSH2):c.1636A>G (p.Lys546Glu)

SNV
Germline

Chr2:47466783

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346727971

rs_2528756764

2 SubmittersRCV002303610 RCV003454094

NM_000251.3(MSH2):c.309T>A (p.Tyr103Ter)

SNV
Germline

Chr2:47408498

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346729643

rs_1237013776

2 SubmittersRCV002325929 RCV003454099

NM_000179.3(MSH6):c.1129A>T (p.Lys377Ter)

SNV
Germline

Chr2:47799112

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA346742078

rs_786202609

3 SubmittersRCV002325978 RCV003316863 RCV005096149

NM_000179.3(MSH6):c.3556+2T>G

SNV
Germline

Chr2:47805029

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Lynch syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA346760284

rs_1669882321

4 SubmittersRCV002339752 RCV003454120 RCV004017924 RCV004697213

NM_000179.3(MSH6):c.3557-1G>A

SNV
Germline

Chr2:47805617

Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA346760396

rs_1114167723

3 SubmittersRCV002454896 RCV003454121 RCV003594198

NM_000535.7(PMS2):c.1151T>A (p.Leu384Ter)

SNV
Germline

Chr7:5987614

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366742694

rs_1554298087

2 SubmittersRCV002349017 RCV003464455

NM_000179.3(MSH6):c.3198T>G (p.Tyr1066Ter)

SNV
Germline

Chr2:47803445

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA346757862

rs_199643502

3 SubmittersRCV002443338 RCV003454102 RCV003759103

NM_000179.3(MSH6):c.3173-1G>T

SNV
Germline

Chr2:47803419

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346757810

rs_397515875

2 SubmittersRCV002322663 RCV005601891

NM_000179.3(MSH6):c.3294C>A (p.Cys1098Ter)

SNV
Germline

Chr2:47803541

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA346758458

rs_766341781

3 SubmittersRCV002454637 RCV003454110 RCV003759104

NM_000251.3(MSH2):c.363T>A (p.Tyr121Ter)

SNV
Germline

Chr2:47408552

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346730150

rs_63750458

2 SubmittersRCV002346604 RCV003454128

NM_000179.3(MSH6):c.3640G>T (p.Glu1214Ter)

SNV
Germline

Chr2:47805701

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Endometrial carcinoma
Mismatch repair cancer syndrome 3
Endometrial carcinoma
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346760623

rs_1114167744

5 SubmittersRCV002452437 RCV003234799 RCV004572257 RCV005397386

NM_000179.3(MSH6):c.3646+2T>G

SNV
Germline

Chr2:47805709

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346760642

rs_1553332776

3 SubmittersRCV002346632 RCV003454129

NM_000251.3(MSH2):c.379A>G (p.Asn127Asp)

SNV
Germline

Chr2:47410106

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346730350

rs_2104017602

2 SubmittersRCV002363940 RCV005601896

NM_000179.3(MSH6):c.3801+1G>A

SNV
Germline

Chr2:47806359

Likely pathogenic

Lynch syndrome 5
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA346761201

rs_876660943

2 SubmittersRCV003454137 RCV002363966

NM_000179.3(MSH6):c.433A>T (p.Lys145Ter)

SNV
Germline

Chr2:47791099

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346737160

rs_2530439801

2 SubmittersRCV002332176 RCV003454151

NM_000535.7(PMS2):c.433C>T (p.Gln145Ter)

SNV
Germline

Chr7:6002557

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA366744358

rs_786204133

2 SubmittersRCV004005657 RCV002332183

NM_000179.3(MSH6):c.3581T>A (p.Leu1194Ter)

SNV
Germline

Chr2:47805642

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346760513

rs_2530822515

2 SubmittersRCV002460281 RCV003454122

NM_000179.3(MSH6):c.3592G>C (p.Ala1198Pro)

SNV
Germline

Chr2:47805653

Likely pathogenic

Hereditary cancer-predisposing syndrome
Mismatch repair cancer syndrome 3
Endometrial carcinoma
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346760537

rs_1669962346

2 SubmittersRCV002339837 RCV005025796

NM_000251.3(MSH2):c.1012G>T (p.Gly338Ter)

SNV
Germline

Chr2:47416365

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346733146

rs_63751004

2 SubmittersRCV002351051 RCV003454134

NM_000179.3(MSH6):c.3931G>T (p.Glu1311Ter)

SNV
Germline

Chr2:47806581

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346761481

rs_749522534

3 SubmittersRCV002373227 RCV003454145

NM_000179.3(MSH6):c.630A>G (p.Val210=)

SNV
Germline

Chr2:47798613

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA425995746

rs_1553412038

2 SubmittersRCV002368824 RCV004005722

NM_000179.3(MSH6):c.461C>A (p.Ser154Ter)

SNV
Germline

Chr2:47795897

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346738561

rs_1553411391

2 SubmittersRCV002330372 RCV003454155

NM_000535.7(PMS2):c.537+2T>C

SNV
Germline

Chr7:6002451

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA366744143

rs_2128815420

3 SubmittersRCV002347064 RCV003594220 RCV005424866

NM_000535.7(PMS2):c.538G>T (p.Glu180Ter)

SNV
Germline

Chr7:5999275

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366744137

rs_876660198

2 SubmittersRCV002347185 RCV003464469

NM_000179.3(MSH6):c.1191T>A (p.Tyr397Ter)

SNV
Germline

Chr2:47799174

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346743354

rs_786201269

2 SubmittersRCV002335808 RCV003454161

NM_000535.7(PMS2):c.556C>T (p.Gln186Ter)

SNV
Germline

Chr7:5999257

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA366744097

rs_1233470165

3 SubmittersRCV002352042 RCV004591917 RCV005096812

NM_000535.7(PMS2):c.1204C>T (p.Gln402Ter)

SNV
Germline

Chr7:5987561

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA366742571

rs_587782789

4 SubmittersRCV002344708 RCV003454169 RCV005096813 RCV004017926

NM_000179.3(MSH6):c.585T>G (p.Val195=)

SNV
Germline

Chr2:47796021

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA425993102

rs_2104238150

2 SubmittersRCV004005707 RCV002353406

NM_000249.4(MLH1):c.589-3C>T

SNV
Germline

Chr3:37012008

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA2580069381

rs_748145045

2 SubmittersRCV002353594 RCV004808282

NM_000251.3(MSH2):c.495T>A (p.Tyr165Ter)

SNV
Germline

Chr2:47410222

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346730651

rs_63749949

3 SubmittersRCV002342793 RCV003102664 RCV005601898

NM_000179.3(MSH6):c.1234A>T (p.Lys412Ter)

SNV
Germline

Chr2:47799217

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346743682

rs_1669310607

2 SubmittersRCV002378173 RCV003454186

NM_000251.3(MSH2):c.793-1G>C

SNV
Germline

Chr2:47414268

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA346732734

rs_863225397

3 SubmittersRCV002416795 RCV003454202 RCV003099794

NM_000251.3(MSH2):c.793-1G>T

SNV
Germline

Chr2:47414268

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346732735

rs_863225397

3 SubmittersRCV002416796 RCV003103457 RCV003454203

NM_000251.3(MSH2):c.793-2A>T

SNV
Germline

Chr2:47414267

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Lynch syndrome 1
Muir-Torré syndrome
Mismatch repair cancer syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA346732733

rs_267607933

3 SubmittersRCV002416800 RCV003454204 RCV005356110

NM_000535.7(PMS2):c.1231G>T (p.Glu411Ter)

SNV
Germline

Chr7:5987534

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA366742517

rs_1159969834

2 SubmittersRCV002362089 RCV004017927

NM_000179.3(MSH6):c.1239G>A (p.Trp413Ter)

SNV
Germline

Chr2:47799222

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346743726

rs_1114167736

2 SubmittersRCV002370890 RCV003454191

NM_000535.7(PMS2):c.821C>G (p.Ser274Ter)

SNV
Germline

Chr7:5995616

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366743548

rs_2536155330

2 SubmittersRCV002412509 RCV003454212

NM_000179.3(MSH6):c.829G>T (p.Glu277Ter)

SNV
Germline

Chr2:47798812

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346740460

rs_2104300003

2 SubmittersRCV002430318 RCV003454214

NM_000251.3(MSH2):c.95C>T (p.Thr32Ile)

SNV
Germline

Chr2:47403286

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346728743

rs_552361923

3 SubmittersRCV002385287 RCV003094840 RCV003464502

NM_000535.7(PMS2):c.706-1G>C

SNV
Germline

Chr7:5997424

Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366743800

rs_1202370194

2 SubmittersRCV002365050 RCV004793795

NM_000535.7(PMS2):c.706-1G>T

SNV
Germline

Chr7:5997424

Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366743799

rs_1202370194

5 SubmittersRCV002365051 RCV003491098 RCV003594236 RCV004017928 RCV004785625

NM_000251.3(MSH2):c.1279A>T (p.Lys427Ter)

SNV
Germline

Chr2:47445550

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA346724487

rs_2103752001

3 SubmittersRCV002374237 RCV003454228 RCV003594249

NM_000251.3(MSH2):c.952G>T (p.Glu318Ter)

SNV
Germline

Chr2:47416305

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346733048

rs_2104242839

2 SubmittersRCV002374249 RCV002467459

NM_000251.3(MSH2):c.731T>A (p.Leu244Ter)

SNV
Germline

Chr2:47412499

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346732197

rs_1553351657

2 SubmittersRCV002380104 RCV003316866

NM_000535.7(PMS2):c.765C>G (p.Tyr255Ter)

SNV
Germline

Chr7:5997364

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366743679

rs_573125799

2 SubmittersRCV002396422 RCV003454198

NM_000535.7(PMS2):c.803+2T>G

SNV
Germline

Chr7:5997324

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366743594

rs_2128786265

2 SubmittersRCV002419292 RCV003454209

NM_000535.7(PMS2):c.804-1G>C

SNV
Germline

Chr7:5995634

Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366743588

rs_1562664845

2 SubmittersRCV002419304 RCV003464490

NM_000535.7(PMS2):c.804-1G>T

SNV
Germline

Chr7:5995634

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA366743587

rs_1562664845

3 SubmittersRCV002412438 RCV003454210 RCV003594241

NM_000251.3(MSH2):c.1276G>T (p.Gly426Ter)

SNV
Germline

Chr2:47429941

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346734316

rs_879254234

3 SubmittersRCV002371717 RCV003100152 RCV003454226

NM_000251.3(MSH2):c.1277-5T>C

SNV
Germline

Chr2:47445543

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA2580066626

rs_2528396616

2 SubmittersRCV002373865 RCV005248679

NM_000251.3(MSH2):c.942+1G>C

SNV
Germline

Chr2:47414419

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346733026

rs_587779193

2 SubmittersRCV002373986 RCV003454227

NM_000251.3(MSH2):c.974C>T (p.Ser325Phe)

SNV
Germline

Chr2:47416327

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA041916

rs_765886157

2 SubmittersRCV002387094 RCV004007293

NM_000251.3(MSH2):c.1357A>G (p.Met453Val)

SNV
Germline

Chr2:47445628

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA346724744

rs_1558493602

3 SubmittersRCV002383379 RCV004572408 RCV003759669

NM_000251.3(MSH2):c.1433T>G (p.Leu478Arg)

SNV
Germline

Chr2:47463077

Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colon cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA346726867

rs_2104087118

3 SubmittersRCV002392126 RCV003454250 RCV004700748

NM_000251.3(MSH2):c.1510+1G>T

SNV
Germline

Chr2:47463155

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA346727219

rs_1114167852

3 SubmittersRCV002392192 RCV003454253 RCV003759680

NM_000251.3(MSH2):c.1510+2T>A

SNV
Germline

Chr2:47463156

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346727221

rs_1060502023

2 SubmittersRCV002392193 RCV003454254

NM_000179.3(MSH6):c.1582G>T (p.Glu528Ter)

SNV
Germline

Chr2:47799565

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346746858

rs_2530617697

2 SubmittersRCV002398266 RCV005621193

NM_000535.7(PMS2):c.1588C>T (p.Gln530Ter)

SNV
Germline

Chr7:5987177

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA044524

rs_751261543

3 SubmittersRCV002398363 RCV003454257

NM_000535.7(PMS2):c.1673C>G (p.Thr558Ser)

SNV
Germline

Chr7:5987092

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA366741259

rs_114037612

3 SubmittersRCV002405905 RCV003493947 RCV004007348

NM_000535.7(PMS2):c.1675G>T (p.Gly559Ter)

SNV
Germline

Chr7:5987090

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA366741253

rs_751153838

6 SubmittersRCV002414507 RCV003454270 RCV004808315 RCV005097672

NM_000535.7(PMS2):c.988+2T>C

SNV
Germline

Chr7:5991971

Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA366743050

rs_2128754913

3 SubmittersRCV002387394 RCV004007294

NM_000535.7(PMS2):c.993C>A (p.Cys331Ter)

SNV
Germline

Chr7:5989951

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Lynch syndrome 4
Mismatch repair cancer syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366743034

rs_186577215

4 SubmittersRCV002382880 RCV003454235 RCV005042820

NM_000251.3(MSH2):c.1029C>G (p.Asn343Lys)

SNV
Germline

Chr2:47416382

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA346733184

rs_1060501995

5 SubmittersRCV002387717 RCV003095000 RCV004572406 RCV004779324

NM_000251.3(MSH2):c.155T>C (p.Leu52Pro)

SNV
Germline

Chr2:47403346

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA029520

rs_780840040

3 SubmittersRCV002405387 RCV004007332 RCV003759682

NM_000179.3(MSH6):c.1564C>T (p.Gln522Ter)

SNV
Germline

Chr2:47799547

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346746744

rs_878853708

2 SubmittersRCV002405490 RCV003454255

NM_000251.3(MSH2):c.1807G>T (p.Asp603Tyr)

SNV
Germline

Chr2:47475072

Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA46700132

rs_63750657

2 SubmittersRCV002410096 RCV003316870

NM_000179.3(MSH6):c.1810G>T (p.Glu604Ter)

SNV
Germline

Chr2:47799793

Pathogenic

Hereditary cancer-predisposing syndrome
Mismatch repair cancer syndrome 3
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA346749382

rs_1669375976

4 SubmittersRCV002410175 RCV005356121 RCV003454289 RCV003759698

NM_000251.3(MSH2):c.1386+2T>G

SNV
Germline

Chr2:47445659

Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346724858

rs_1675076969

2 SubmittersRCV002396521 RCV003454247

NM_000179.3(MSH6):c.1468G>T (p.Glu490Ter)

SNV
Germline

Chr2:47799451

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346745872

rs_1558661782

2 SubmittersRCV002396876 RCV003336703

NM_000249.4(MLH1):c.1039-1G>T

SNV
Germline

Chr3:37025636

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA352052021

rs_267607819

4 SubmittersRCV002396935 RCV002467460 RCV004017932

NM_000179.3(MSH6):c.1472T>C (p.Met491Thr)

SNV
Germline

Chr2:47799455

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA067724

rs_759643679

3 SubmittersRCV002396961 RCV005097538 RCV004007323

NM_000535.7(PMS2):c.1552G>T (p.Glu518Ter)

SNV
Germline

Chr7:5987213

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366741604

rs_376142390

3 SubmittersRCV002403400 RCV003464523

NM_000251.3(MSH2):c.1555T>C (p.Phe519Leu)

SNV
Germline

Chr2:47466702

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346727792

rs_1371291280

3 SubmittersRCV002403450 RCV003096927 RCV004808310

NM_000251.3(MSH2):c.1796T>G (p.Leu599Ter)

SNV
Germline

Chr2:47475061

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346728317

rs_747504492

2 SubmittersRCV002407804 RCV003454286

NM_000179.3(MSH6):c.1294T>C (p.Phe432Leu)

SNV
Germline

Chr2:47799277

Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346744219

rs_2104334088

2 SubmittersRCV002380619 RCV005424894

NM_000251.3(MSH2):c.1363G>T (p.Glu455Ter)

SNV
Germline

Chr2:47445634

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346724766

rs_1675074360

3 SubmittersRCV002383551 RCV003095036 RCV003454242

NM_000251.3(MSH2):c.1369A>C (p.Thr457Pro)

SNV
Germline

Chr2:47445640

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346724785

rs_1445965781

3 SubmittersRCV002383643 RCV003095042 RCV003454245

NM_000179.3(MSH6):c.1605C>G (p.Tyr535Ter)

SNV
Germline

Chr2:47799588

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346746982

rs_2104354873

2 SubmittersRCV002398771 RCV003454260

NM_000535.7(PMS2):c.167T>C (p.Leu56Pro)

SNV
Germline

Chr7:6004055

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA366744929

rs_2128830784

2 SubmittersRCV002406016 RCV005424920

NM_000179.3(MSH6):c.1777C>T (p.Gln593Ter)

SNV
Germline

Chr2:47799760

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346749210

rs_751179784

4 SubmittersRCV002404010 RCV005055459 RCV005097750 RCV003454284

NM_000179.3(MSH6):c.1852C>T (p.Gln618Ter)

SNV
Germline

Chr2:47799835

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Endometrial carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA346749739

rs_1411268654

3 SubmittersRCV002413042 RCV003454291 RCV004572444

NM_000179.3(MSH6):c.1865T>C (p.Ile622Thr)

SNV
Germline

Chr2:47799848

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Mismatch repair cancer syndrome 3
Endometrial carcinoma
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA346749851

rs_2104372440

3 SubmittersRCV002414994 RCV003759702 RCV005397415

NM_000251.3(MSH2):c.1829A>C (p.His610Pro)

SNV
Germline

Chr2:47475094

Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA346728368

rs_1667236175

3 SubmittersRCV002410486 RCV003482411 RCV004596549

NM_000251.3(MSH2):c.1972G>T (p.Glu658Ter)

SNV
Germline

Chr2:47475237

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346728836

rs_1558518517

2 SubmittersRCV002423522 RCV003454311

NM_000251.3(MSH2):c.2060T>G (p.Leu687Arg)

SNV
Germline

Chr2:47476421

Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346729164

rs_587779133

3 SubmittersRCV002421975 RCV003121024 RCV003454321

NM_000251.3(MSH2):c.2068C>A (p.Gln690Lys)

SNV
Germline

Chr2:47476429

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA346729177

rs_587779134

3 SubmittersRCV002422071 RCV003454322 RCV005097919

NM_000251.3(MSH2):c.2162G>A (p.Gly721Glu)

SNV
Germline

Chr2:47476523

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346729348

rs_2104377051

4 SubmittersRCV002417908 RCV003121033 RCV004999752 RCV004007401

NM_000535.7(PMS2):c.2174+1G>T

SNV
Germline

Chr7:5982823

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 4
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA046863

rs_267608172

4 SubmittersRCV002432777 RCV002481086 RCV003454329 RCV003759713

NM_000535.7(PMS2):c.2175-1G>A

SNV
Germline

Chr7:5978697

Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366736997

rs_1562605623

2 SubmittersRCV002432799 RCV003454330

NM_000535.7(PMS2):c.2175-2A>G

SNV
Germline

Chr7:5978698

Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366737003

rs_2128684295

3 SubmittersRCV002432800 RCV003327568 RCV003454331

NM_000251.3(MSH2):c.2285T>A (p.Leu762Ter)

SNV
Germline

Chr2:47478346

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346729827

rs_1558521698

2 SubmittersRCV002446153 RCV003455460

NM_000535.7(PMS2):c.237C>T (p.Asn79=)

SNV
Germline

Chr7:6003985

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA366744773

rs_2536512447

4 SubmittersRCV002457868 RCV003775215 RCV004999754 RCV005424940

NM_000179.3(MSH6):c.2393T>C (p.Leu798Pro)

SNV
Germline

Chr2:47800376

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA346753867

rs_2104404366

3 SubmittersRCV002459593 RCV003759731 RCV005356128

NM_000251.3(MSH2):c.2399T>C (p.Leu800Pro)

SNV
Germline

Chr2:47478460

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346730184

rs_2104407685

4 SubmittersRCV002450225 RCV003101788 RCV004007426 RCV003455467

NM_000251.3(MSH2):c.239T>C (p.Leu80Pro)

SNV
Germline

Chr2:47408428

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346729504

rs_2103976941

2 SubmittersRCV002459642 RCV003455468

NM_000535.7(PMS2):c.251-1G>A

SNV
Germline

Chr7:6003793

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366744735

rs_764171734

2 SubmittersRCV002434936 RCV005421377

NM_000179.3(MSH6):c.2626G>T (p.Glu876Ter)

SNV
Germline

Chr2:47800609

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Endometrial carcinoma
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346755051

rs_2104415820

4 SubmittersRCV002437249 RCV003465762 RCV003102044 RCV005248792

NM_000535.7(PMS2):c.1895T>G (p.Leu632Ter)

SNV
Germline

Chr7:5986870

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366739379

rs_2128721689

2 SubmittersRCV002408099 RCV003454299

NM_000251.3(MSH2):c.1939G>A (p.Glu647Lys)

SNV
Germline

Chr2:47475204

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346728725

rs_63750078

2 SubmittersRCV002413143 RCV004572452

NM_000251.3(MSH2):c.193A>T (p.Lys65Ter)

SNV
Germline

Chr2:47403384

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
MSH2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA346729031

rs_1465016316

4 SubmittersRCV002413152 RCV003454305 RCV004545838

NM_000251.3(MSH2):c.1948T>C (p.Phe650Leu)

SNV
Germline

Chr2:47475213

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA46700548

rs_868745991

4 SubmittersRCV002413291 RCV003320891 RCV004007380 RCV003774574

NM_000179.3(MSH6):c.194C>A (p.Ser65Ter)

SNV
Germline

Chr2:47783427

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346735030

rs_41294984

3 SubmittersRCV002421497 RCV003097376 RCV003454307

NM_000535.7(PMS2):c.2247T>G (p.Asn749Lys)

SNV
Germline

Chr7:5978624

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA366736579

rs_200824831

2 SubmittersRCV002428420 RCV003454336

NM_002354.3(EPCAM):c.224G>A (p.Gly75Asp)

SNV
Germline

Chr2:47373847

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Congenital diarrhea 5 with tufting enteropathy
Lynch syndrome 8
Lynch syndrome 8

Criteria Provided
Conflicting Classifications

CA1648929

rs_749805135

3 SubmittersRCV002428449 RCV004796732 RCV005601910

NM_000179.3(MSH6):c.260+2T>G

SNV
Germline

Chr2:47783495

Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA346735207

rs_1553408469

3 SubmittersRCV002426247 RCV003455484 RCV004017936

NM_000251.3(MSH2):c.2006-1G>A

SNV
Germline

Chr2:47476366

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346729075

rs_267607988

2 SubmittersRCV002417256 RCV003454314

NM_000535.7(PMS2):c.2007-1G>C

SNV
Germline

Chr7:5982992

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366738203

rs_267608170

2 SubmittersRCV002417268 RCV003454315

NM_000251.3(MSH2):c.2023A>T (p.Lys675Ter)

SNV
Germline

Chr2:47476384

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346729102

rs_1060501990

2 SubmittersRCV002419632 RCV003454317

NM_000251.3(MSH2):c.1075A>G (p.Arg359Gly)

SNV
Germline

Chr2:47416428

Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346733279

rs_587779070

2 SubmittersRCV002419669 RCV003454318

NM_000251.3(MSH2):c.2027C>A (p.Ser676Ter)

SNV
Germline

Chr2:47476388

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346729110

rs_1057520735

3 SubmittersRCV002419695 RCV003454319

NM_000535.7(PMS2):c.2029G>T (p.Glu677Ter)

SNV
Germline

Chr7:5982969

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA366738147

rs_2128704530

3 SubmittersRCV002419744 RCV002469477 RCV004017934

NM_000251.3(MSH2):c.202G>T (p.Gly68Trp)

SNV
Germline

Chr2:47403393

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346729053

rs_2103882055

2 SubmittersRCV002419772 RCV004808330

NM_000251.3(MSH2):c.211+1G>A

SNV
Germline

Chr2:47403403

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346729069

rs_1114167883

3 SubmittersRCV002417472 RCV003454326

NM_000251.3(MSH2):c.211+2T>G

SNV
Germline

Chr2:47403404

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346729071

rs_1060501993

2 SubmittersRCV002417473 RCV003454327

NM_000535.7(PMS2):c.232G>T (p.Glu78Ter)

SNV
Germline

Chr7:6003990

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366744787

rs_1785414812

2 SubmittersRCV002457623 RCV003455463

NM_000251.3(MSH2):c.2458+1G>C

SNV
Germline

Chr2:47478520

Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346730323

rs_267608010

3 SubmittersRCV002430714 RCV003493955 RCV003455472

NM_000251.3(MSH2):c.2459-2A>C

SNV
Germline

Chr2:47480694

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA46707548

rs_267608011

2 SubmittersRCV002430718 RCV003455473

NM_000251.3(MSH2):c.1072G>T (p.Glu358Ter)

SNV
Germline

Chr2:47416425

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1
Muir-Torré syndrome
Mismatch repair cancer syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA346733274

rs_1208014123

3 SubmittersRCV002423831 RCV003320892 RCV005032266

NM_000249.4(MLH1):c.2103+2T>C

SNV
Germline

Chr3:37049019

Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA352068501

rs_2148512428

3 SubmittersRCV002424260 RCV004007397

NM_000251.3(MSH2):c.2307C>A (p.Tyr769Ter)

SNV
Germline

Chr2:47478368

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346729870

rs_1573574086

2 SubmittersRCV002446388 RCV003455461

NM_000251.3(MSH2):c.230G>T (p.Ser77Ile)

SNV
Germline

Chr2:47408419

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346729485

rs_1203185481

2 SubmittersRCV002446428 RCV004007417

NM_000535.7(PMS2):c.2535T>G (p.His845Gln)

SNV
Germline

Chr7:5973453

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA366734845

rs_876660464

2 SubmittersRCV002455749 RCV003455480

NM_000179.3(MSH6):c.1102G>T (p.Glu368Ter)

SNV
Germline

Chr2:47799085

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346741919

rs_1572721686

2 SubmittersRCV002455805 RCV003455481

NM_000251.3(MSH2):c.2548G>T (p.Glu850Ter)

SNV
Germline

Chr2:47480785

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346730861

rs_1171704794

2 SubmittersRCV002455815 RCV003455482

NM_000251.3(MSH2):c.2554G>T (p.Glu852Ter)

SNV
Germline

Chr2:47480791

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346730890

rs_587779966

2 SubmittersRCV002455832 RCV003455483

NM_000179.3(MSH6):c.2757A>G (p.Glu919=)

SNV
Germline

Chr2:47800740

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA426121637

rs_866493167

3 SubmittersRCV002439427 RCV004999763 RCV005421391

NM_000251.3(MSH2):c.294T>G (p.Tyr98Ter)

SNV
Germline

Chr2:47408483

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346729614

rs_763872353

3 SubmittersRCV002441865 RCV003455505

NM_000179.3(MSH6):c.290G>A (p.Trp97Ter)

SNV
Germline

Chr2:47790956

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA346736638

rs_752680756

3 SubmittersRCV002439818 RCV003455501 RCV005098335

NM_000179.3(MSH6):c.3040A>T (p.Lys1014Ter)

SNV
Germline

Chr2:47801023

Pathogenic

Lynch syndrome 5
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA346756482

rs_2104437393

2 SubmittersRCV003455514 RCV002444006

NM_000535.7(PMS2):c.304G>T (p.Glu102Ter)

SNV
Germline

Chr7:6003739

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA366744619

rs_2128826930

2 SubmittersRCV002444102 RCV004017937

NM_000251.3(MSH2):c.1127T>A (p.Leu376Ter)

SNV
Germline

Chr2:47429792

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346733620

rs_762385137

2 SubmittersRCV002444294 RCV005621211

NM_000179.3(MSH6):c.2977G>T (p.Glu993Ter)

SNV
Germline

Chr2:47800960

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346756350

rs_1558667523

2 SubmittersRCV002442154 RCV004763419

NM_014159.7(SETD2):c.79G>C (p.Glu27Gln)

SNV
Germline

Chr3:47126656

Conflicting classifications of pathogenicity

Condition: not provided
Luscan-Lumish syndrome
Rabin-Pappas syndrome
Intellectual developmental disorder, autosomal dominant 70

Criteria Provided
Conflicting Classifications

CA352540023

rs_2545662505

2 SubmittersRCV002462416 RCV004725289

NM_022552.5(DNMT3A):c.2186G>A (p.Arg729Gln)

SNV
Germline

Chr2:25240438

Likely pathogenic

Tatton-Brown-Rahman overgrowth syndrome

Criteria Provided
Single Submitter

CA1555717

rs_757211277

1 SubmittersRCV002463468

NM_000249.4(MLH1):c.879C>G (p.Tyr293Ter)

SNV
Germline

Chr3:37017594

Likely pathogenic

Lynch syndrome 1
Hereditary nonpolyposis colorectal carcinoma

Criteria Provided
Single Submitter

CA352046579

rs_1209098685

1 SubmittersRCV002463850 RCV002508981

NM_006218.4(PIK3CA):c.1346C>T (p.Pro449Leu)

SNV
Germline/somatic

Chr3:179210280

Pathogenic/Likely pathogenic

Megalencephaly-capillary malformation-polymicrogyria syndrome
PIK3CA related overgrowth syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA355261914

rs_1278986760

2 SubmittersRCV002468764 RCV005251326

NM_153704.6(TMEM67):c.1847C>A (p.Ala616Asp)

SNV
Germline

Chr8:93795974

Likely pathogenic

COACH syndrome 1

Criteria Provided
Single Submitter

CA371693112

rs_757204749

1 SubmittersRCV002468952

NM_024120.5(NDUFAF5):c.519+2T>C

SNV
Germline

Chr20:13798502

Likely pathogenic

Leigh syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA408270261

rs_2147534220

2 SubmittersRCV002470127 RCV003708691

NM_014159.7(SETD2):c.746C>T (p.Ser249Phe)

SNV
Germline

Chr3:47123890

Conflicting classifications of pathogenicity

Luscan-Lumish syndrome

Criteria Provided
Conflicting Classifications

CA352534921

rs_1162661952

2 SubmittersRCV002471452

NM_007103.4(NDUFV1):c.736G>A (p.Glu246Lys)

SNV
Germline

Chr11:67611030

Conflicting classifications of pathogenicity

Condition: not provided
Mitochondrial complex I deficiency, nuclear type 4
Leigh syndrome

Criteria Provided
Conflicting Classifications

CA224180719

rs_375897089

6 SubmittersRCV002474097 RCV003340498 RCV004587355

NM_000377.3(WAS):c.383T>C (p.Phe128Ser)

SNV
Germline

ChrX:48685756

Pathogenic/Likely pathogenic

Condition: not provided
X-linked severe congenital neutropenia
Thrombocytopenia 1
Wiskott-Aldrich syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA412867479

rs_2519280746

2 SubmittersRCV002508888 RCV003775557

NM_003172.4(SURF1):c.589-1G>C

SNV
Germline

Chr9:133352609

Pathogenic

Leigh syndrome

Criteria Provided
Single Submitter

CA375693947

rs_863224227

1 SubmittersRCV003058239

NM_018344.6(SLC29A3):c.1+2T>G

SNV
Germline

Chr10:71319312

Likely pathogenic

H syndrome

Criteria Provided
Single Submitter

CA377128556

rs_1845790373

1 SubmittersRCV003062269

NM_024426.6(WT1):c.1372T>C (p.Cys458Arg)

SNV
Germline

Chr11:32392047

Pathogenic

Drash syndrome
Frasier syndrome
Wilms tumor 1
11p partial monosomy syndrome

Criteria Provided
Single Submitter

CA379958962

rs_2132915155

1 SubmittersRCV003062358

NM_000377.3(WAS):c.58C>T (p.Gln20Ter)

SNV
Germline

ChrX:48683911

Pathogenic

Thrombocytopenia 1
Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia

Criteria Provided
Single Submitter

CA412865428

rs_797044477

1 SubmittersRCV003064718

NM_000377.3(WAS):c.264C>A (p.Tyr88Ter)

SNV
Germline

ChrX:48684414

Pathogenic

Thrombocytopenia 1
Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia

Criteria Provided
Single Submitter

CA412866647

rs_150520117

1 SubmittersRCV003041444

NM_000377.3(WAS):c.302T>C (p.Leu101Pro)

SNV
Germline

ChrX:48685575

Pathogenic

Thrombocytopenia 1
Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia

Criteria Provided
Single Submitter

CA412866968

rs_2519280132

1 SubmittersRCV003041445

NM_000377.3(WAS):c.319T>C (p.Tyr107His)

SNV
Germline

ChrX:48685592

Pathogenic

Thrombocytopenia 1
Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia

Criteria Provided
Single Submitter

CA412867060

rs_2519280195

1 SubmittersRCV003041446

NM_000377.3(WAS):c.401C>T (p.Ala134Val)

SNV
Germline

ChrX:48685774

Pathogenic

Thrombocytopenia 1
Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia

Criteria Provided
Single Submitter

CA412867707

rs_2519280832

1 SubmittersRCV003064719

NM_000251.3(MSH2):c.126C>A (p.Phe42Leu)

SNV
Germline

Chr2:47403317

Conflicting classifications of pathogenicity

Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA027356

rs_730881766

3 SubmittersRCV004790356 RCV003083929 RCV004942967

NM_015272.5(RPGRIP1L):c.2683+2T>C

SNV
Germline

Chr16:53645623

Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome
Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA395914064

rs_2544100125

2 SubmittersRCV003072457 RCV005010973

NM_003172.4(SURF1):c.821A>G (p.Tyr274Cys)

SNV
Germline

Chr9:133352073

Pathogenic

Leigh syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA200832031

rs_781967825

2 SubmittersRCV002585428

NM_001378615.1(CC2D2A):c.3924C>T (p.Asn1308=)

SNV
Germline

Chr4:15580120

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
COACH syndrome 2
Meckel syndrome, type 6
Joubert syndrome 9
Retinitis pigmentosa 93

Criteria Provided
Conflicting Classifications

CA438390588

rs_762297266

2 SubmittersRCV003086559 RCV005034686

NM_015272.5(RPGRIP1L):c.3432+1G>A

SNV
Germline

Chr16:53622218

Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome
Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA395923929

rs_2150974573

2 SubmittersRCV003092388 RCV005010988

NM_000540.3(RYR1):c.2449C>T (p.Arg817Ter)

SNV
Germline

Chr19:38460463

Pathogenic/Likely pathogenic

RYR1-related disorder
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
Central core myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA063249

rs_150633775

2 SubmittersRCV003082827 RCV005021563

NM_024426.6(WT1):c.261C>A (p.Ala87=)

SNV
Germline

Chr11:32435100

Conflicting classifications of pathogenicity

Drash syndrome
Frasier syndrome
Wilms tumor 1
11p partial monosomy syndrome
Wilms tumor 1
Inborn genetic diseases
WT1-related disorder

Criteria Provided
Conflicting Classifications

CA473774009

rs_1298313010

4 SubmittersRCV002595334 RCV004804562 RCV005301255 RCV004550417

NM_024426.6(WT1):c.392C>T (p.Pro131Leu)

SNV
Germline

Chr11:32434969

Conflicting classifications of pathogenicity

Wilms tumor 1
11p partial monosomy syndrome
Drash syndrome
Frasier syndrome
Nephrotic syndrome, type 4

Criteria Provided
Conflicting Classifications

CA379965790

rs_1443423967

2 SubmittersRCV002592136 RCV004577571

NM_015272.5(RPGRIP1L):c.541C>T (p.Gln181Ter)

SNV
Germline

Chr16:53687954

Pathogenic/Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA395924569

rs_1259684278

2 SubmittersRCV002616136 RCV005021616

NM_022552.5(DNMT3A):c.2245C>T (p.Arg749Cys)

SNV
Germline/somatic

Chr2:25240379

Pathogenic

Tatton-Brown-Rahman overgrowth syndrome
Melanoma

Criteria Provided
Single Submitter

CA1555688

rs_754613602

2 SubmittersRCV002651442 RCV003222461

NM_022552.5(DNMT3A):c.337G>A (p.Gly113Arg)

SNV
Germline

Chr2:25282552

Conflicting classifications of pathogenicity

Tatton-Brown-Rahman overgrowth syndrome
DNMT3A-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1556490

rs_758151481

4 SubmittersRCV002624801 RCV003973718 RCV004721123

NM_001378615.1(CC2D2A):c.2581G>A (p.Asp861Asn)

SNV
Germline

Chr4:15555166

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
COACH syndrome 2
Meckel syndrome, type 6
Joubert syndrome 9
Retinitis pigmentosa 93
not specified

Criteria Provided
Conflicting Classifications

CA356420697

rs_1367275342

3 SubmittersRCV002651820 RCV005028330 RCV004526968

NM_000251.3(MSH2):c.1757C>A (p.Ser586Ter)

SNV
Germline

Chr2:47471060

Pathogenic

Lynch syndrome 1
Lynch syndrome 1
Muir-Torré syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA346728235

rs_1114167854

3 SubmittersRCV003455763 RCV003330111 RCV003112120

NM_015272.5(RPGRIP1L):c.3682C>T (p.Gln1228Ter)

SNV
Germline

Chr16:53610986

Pathogenic/Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 5
COACH syndrome 3
Joubert syndrome 7

Criteria Provided
Multiple Submitters
No Conflicts

CA395922257

rs_1964000214

2 SubmittersRCV002576155 RCV005019233

NM_015272.5(RPGRIP1L):c.2875-5C>G

SNV
Germline

Chr16:53641121

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 5
COACH syndrome 3
Joubert syndrome 7

Criteria Provided
Conflicting Classifications

CA8057428

rs_758927533

2 SubmittersRCV002572136 RCV005008612

NM_001378615.1(CC2D2A):c.3535G>T (p.Glu1179Ter)

SNV
Germline

Chr4:15570437

Pathogenic/Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome
COACH syndrome 2
Retinitis pigmentosa 93
Meckel syndrome, type 6
Joubert syndrome 9

Criteria Provided
Multiple Submitters
No Conflicts

CA2864199

rs_767783281

2 SubmittersRCV002577667 RCV005032313

NM_001379500.1(COL18A1):c.2577+1G>A

SNV
Germline

Chr21:45496569

Pathogenic/Likely pathogenic

Condition: not provided
Knobloch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10067185

rs_541908170

2 SubmittersRCV002614018 RCV003403873

NM_000251.3(MSH2):c.1661+2T>G

SNV
Germline

Chr2:47466810

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA346728024

rs_1553366680

3 SubmittersRCV002618628 RCV003455554 RCV005375119

NM_000251.3(MSH2):c.2599G>T (p.Glu867Ter)

SNV
Germline

Chr2:47480836

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Lynch syndrome 1
Muir-Torré syndrome
Mismatch repair cancer syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA346731076

rs_2104440647

3 SubmittersRCV002635267 RCV003455555 RCV005370257

NM_003172.4(SURF1):c.769G>A (p.Gly257Arg)

SNV
Germline

Chr9:133352125

Pathogenic/Likely pathogenic

Leigh syndrome
Mitochondrial complex IV deficiency, nuclear type 1
Charcot-Marie-Tooth disease type 4K

Criteria Provided
Multiple Submitters
No Conflicts

CA375693551

rs_2490613891

2 SubmittersRCV002650257 RCV005042938

NM_024426.6(WT1):c.394G>T (p.Ala132Ser)

SNV
Germline

Chr11:32434967

Conflicting classifications of pathogenicity

Drash syndrome
Frasier syndrome
Wilms tumor 1
11p partial monosomy syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA379965788

rs_773831663

2 SubmittersRCV002695933 RCV005308817

NM_015272.5(RPGRIP1L):c.882G>T (p.Glu294Asp)

SNV
Germline

Chr16:53675017

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3

Criteria Provided
Conflicting Classifications

CA395923076

rs_2544513749

2 SubmittersRCV002730165 RCV005019354

NM_024426.6(WT1):c.1141C>T (p.Pro381Ser)

SNV
Germline

Chr11:32396380

Conflicting classifications of pathogenicity

Drash syndrome
Frasier syndrome
Wilms tumor 1
11p partial monosomy syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA064291

rs_754938612

2 SubmittersRCV002790929 RCV004966122

NM_000251.3(MSH2):c.514A>T (p.Lys172Ter)

SNV
Germline

Chr2:47410241

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346730730

rs_2465708237

2 SubmittersRCV002796574 RCV003455577

NM_000179.3(MSH6):c.628-2A>C

SNV
Germline

Chr2:47798609

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346739194

rs_1114167725

2 SubmittersRCV002815831 RCV003455585

NM_000179.3(MSH6):c.1784T>G (p.Leu595Ter)

SNV
Germline

Chr2:47799767

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346749254

rs_1553413170

3 SubmittersRCV002815913 RCV003465840 RCV003455586

NM_000377.3(WAS):c.964G>T (p.Gly322Ter)

SNV
Germline

ChrX:48688692

Pathogenic

Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia
Thrombocytopenia 1

Criteria Provided
Single Submitter

CA412872767

rs_2519286526

1 SubmittersRCV002829716

NM_022552.5(DNMT3A):c.1143G>A (p.Gly381=)

SNV
Germline

Chr2:25246756

Conflicting classifications of pathogenicity

Tatton-Brown-Rahman overgrowth syndrome
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1556123

rs_567230691

3 SubmittersRCV002856439 RCV005333357 RCV003491155

NM_022552.5(DNMT3A):c.629G>A (p.Trp210Ter)

SNV
Germline

Chr2:25274951

Pathogenic

Tatton-Brown-Rahman overgrowth syndrome

Criteria Provided
Single Submitter

CA346082861

rs_2149365370

1 SubmittersRCV002898735

NM_000251.3(MSH2):c.1553A>T (p.Gln518Leu)

SNV
Germline

Chr2:47466700

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA029503

rs_763323368

3 SubmittersRCV002872239 RCV003465856 RCV005445710

NM_024426.6(WT1):c.1077C>G (p.Tyr359Ter)

SNV
Germline

Chr11:32399984

Pathogenic

Frasier syndrome
Wilms tumor 1
11p partial monosomy syndrome
Drash syndrome

Criteria Provided
Single Submitter

CA379960359

rs_2132957763

1 SubmittersRCV002876400

NM_000377.3(WAS):c.383T>G (p.Phe128Cys)

SNV
Germline

ChrX:48685756

Likely pathogenic

X-linked severe congenital neutropenia
Thrombocytopenia 1
Wiskott-Aldrich syndrome

Criteria Provided
Single Submitter

CA412867482

rs_2519280746

1 SubmittersRCV002871544

NM_000251.3(MSH2):c.2635-6T>C

SNV
Germline

Chr2:47482773

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA2580067351

rs_2104458978

2 SubmittersRCV002858457 RCV005421440

NM_000179.3(MSH6):c.457+6A>T

SNV
Germline

Chr2:47791129

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA2580066912

rs_2104113258

2 SubmittersRCV002890012 RCV005425003

NM_024426.6(WT1):c.1299T>A (p.Cys433Ter)

SNV
Germline

Chr11:32392721

Pathogenic

Frasier syndrome
Wilms tumor 1
11p partial monosomy syndrome
Drash syndrome

Criteria Provided
Single Submitter

CA379959333

rs_2132920775

1 SubmittersRCV002885213

NM_024426.6(WT1):c.453G>A (p.Trp151Ter)

SNV
Germline

Chr11:32434908

Pathogenic

Drash syndrome
Frasier syndrome
Wilms tumor 1
11p partial monosomy syndrome

Criteria Provided
Single Submitter

CA379965045

rs_1267712523

1 SubmittersRCV002899411

NM_000377.3(WAS):c.765G>C (p.Gln255His)

SNV
Germline

ChrX:48688084

Conflicting classifications of pathogenicity

Thrombocytopenia 1
Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10403980

rs_782631956

2 SubmittersRCV002933443 RCV002952500

NM_000377.3(WAS):c.1001G>A (p.Gly334Asp)

SNV
Germline

ChrX:48688729

Conflicting classifications of pathogenicity

Thrombocytopenia 1
Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia

Criteria Provided
Conflicting Classifications

CA10404029

rs_782420124

2 SubmittersRCV002926919

NM_000179.3(MSH6):c.3752C>A (p.Ser1251Ter)

SNV
Germline

Chr2:47806309

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346761080

rs_1558392317

2 SubmittersRCV002952788 RCV003455614

NM_015272.5(RPGRIP1L):c.883-20A>G

SNV
Germline

Chr16:53673036

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 5
COACH syndrome 3
Joubert syndrome 7

Criteria Provided
Conflicting Classifications

CA8057984

rs_781088450

2 SubmittersRCV002958733 RCV005010817

NM_001378615.1(CC2D2A):c.1161C>T (p.Tyr387=)

SNV
Germline

Chr4:15527458

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Joubert syndrome
Retinitis pigmentosa 93
COACH syndrome 2
Meckel syndrome, type 6
Joubert syndrome 9

Criteria Provided
Conflicting Classifications

CA438382572

rs_1717568150

2 SubmittersRCV002974839 RCV005028066

NM_000535.7(PMS2):c.2446-16T>C

SNV
Germline

Chr7:5973558

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA2578823598

rs_2535207021

2 SubmittersRCV002985376 RCV005425016

NM_024426.6(WT1):c.674T>C (p.Val225Ala)

SNV
Germline

Chr11:32428607

Conflicting classifications of pathogenicity

Drash syndrome
Frasier syndrome
Wilms tumor 1
11p partial monosomy syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA065442

rs_576902446

2 SubmittersRCV002998692 RCV004963335

NM_003172.4(SURF1):c.751+1G>A

SNV
Germline

Chr9:133352445

Pathogenic

Leigh syndrome

Criteria Provided
Single Submitter

CA200832313

rs_782405164

1 SubmittersRCV002979667

NM_000179.3(MSH6):c.3802-2A>G

SNV
Germline

Chr2:47806450

Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346761207

rs_2104550873

3 SubmittersRCV003006245 RCV003585329 RCV003455659

NM_000377.3(WAS):c.735-2A>T

SNV
Germline

ChrX:48688052

Pathogenic

Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia
Thrombocytopenia 1

Criteria Provided
Single Submitter

CA412872030

rs_1602178800

1 SubmittersRCV003013605

NM_024426.6(WT1):c.913C>T (p.Gln305Ter)

SNV
Germline

Chr11:32417629

Pathogenic

Drash syndrome
Frasier syndrome
Wilms tumor 1
11p partial monosomy syndrome

Criteria Provided
Single Submitter

CA379962168

rs_2133037431

1 SubmittersRCV003025851

NM_022552.5(DNMT3A):c.853G>T (p.Glu285Ter)

SNV
Germline

Chr2:25248039

Pathogenic

Tatton-Brown-Rahman overgrowth syndrome

Criteria Provided
Single Submitter

CA1556283

rs_201882909

1 SubmittersRCV003031398

NM_001378615.1(CC2D2A):c.2625+9C>G

SNV
Germline

Chr4:15555219

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Joubert syndrome
Retinitis pigmentosa 93
Joubert syndrome 9
COACH syndrome 2
Meckel syndrome, type 6

Criteria Provided
Conflicting Classifications

CA549892424

rs_1167453314

2 SubmittersRCV003054350 RCV005028127

NM_000535.7(PMS2):c.164-10A>G

SNV
Germline

Chr7:6004068

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Mismatch repair cancer syndrome 4
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA2580077197

rs_2128830974

3 SubmittersRCV004661545 RCV005045173 RCV003055217

NM_000535.7(PMS2):c.27A>G (p.Thr9=)

SNV
Germline

Chr7:6006028

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA453650382

rs_1060504842

2 SubmittersRCV003043350 RCV004808403

NM_000535.7(PMS2):c.903+5T>G

SNV
Germline

Chr7:5995529

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA840185026

rs_1419635604

3 SubmittersRCV003035350 RCV003294394 RCV005425036

NM_000377.3(WAS):c.361-1G>C

SNV
Germline

ChrX:48685733

Pathogenic

X-linked severe congenital neutropenia
Thrombocytopenia 1
Wiskott-Aldrich syndrome

Criteria Provided
Single Submitter

CA412867329

rs_2519280651

1 SubmittersRCV003051659

NM_024426.6(WT1):c.514C>T (p.Gln172Ter)

SNV
Germline

Chr11:32434847

Pathogenic

Drash syndrome
Frasier syndrome
Wilms tumor 1
11p partial monosomy syndrome

Criteria Provided
Single Submitter

CA379964814

rs_2494478145

1 SubmittersRCV003048353

NM_001376571.1(MADD):c.2996C>T (p.Pro999Leu)

SNV
Germline

Chr11:47290046

Conflicting classifications of pathogenicity

Inborn genetic diseases
Condition: not provided
Deeah syndrome

Criteria Provided
Conflicting Classifications

CA5974633

rs_371396751

3 SubmittersRCV002960828 RCV003128888 RCV004527451

NM_015378.4(VPS13D):c.12662+1059C>G

SNV
Germline

Chr1:12461455

Likely pathogenic

Leigh syndrome

Criteria Provided
Single Submitter

CA2580060573

rs_2521974385

1 SubmittersRCV003110166

NM_000179.3(MSH6):c.3861T>A (p.Tyr1287Ter)

SNV
Unknown

Chr2:47806511

Pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

CA346761331

rs_1060504739

1 SubmittersRCV003140368

NM_022552.5(DNMT3A):c.1627G>A (p.Gly543Ser)

SNV
Germline

Chr2:25244580

Likely pathogenic

Tatton-Brown-Rahman overgrowth syndrome

Criteria Provided
Single Submitter

CA346072143

rs_752222356

1 SubmittersRCV003140539

NM_001379500.1(COL18A1):c.2032-1G>A

SNV
Germline

Chr21:45490835

Likely pathogenic

Condition: not provided
Knobloch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA410496845

rs_2036311953

2 SubmittersRCV003778699 RCV003142507

NM_000535.7(PMS2):c.214G>T (p.Gly72Ter)

SNV
Germline

Chr7:6004008

Pathogenic/Likely pathogenic

Condition: not provided
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366744833

rs_2128829880

2 SubmittersRCV003131239 RCV003455765

NM_000377.3(WAS):c.1166G>A (p.Gly389Asp)

SNV
Germline

ChrX:48688894

Conflicting classifications of pathogenicity

Condition: not provided
Thrombocytopenia 1
Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia

Criteria Provided
Conflicting Classifications

CA412873418

rs_868970795

3 SubmittersRCV003139309 RCV003778819

NM_018344.6(SLC29A3):c.2-4A>G

SNV
Unknown

Chr10:71322752

Likely pathogenic

H syndrome

Criteria Provided
Single Submitter

CA1918660832

rs_1845876806

1 SubmittersRCV003148063

NM_006941.4(SOX10):c.671C>A (p.Ser224Ter)

SNV
Unknown

Chr22:37977893

Pathogenic

PCWH syndrome

Criteria Provided
Single Submitter

CA411497104

rs_940482154

1 SubmittersRCV003148260

NC_012920.1(MT-ND5):m.12923G>A

SNV
Germline

ChrMT:12923

Likely pathogenic

Leigh syndrome
MELAS syndrome
Leber optic atrophy

Criteria Provided
Single Submitter

CA414815506

rs_1603223971

1 SubmittersRCV003150916 RCV003150917 RCV003150918

NM_000540.3(RYR1):c.6500T>G (p.Ile2167Ser)

SNV
Unknown

Chr19:38494577

Likely pathogenic

King Denborough syndrome

Criteria Provided
Single Submitter

CA405664331

rs_2514276377

1 SubmittersRCV003152992

NM_000377.3(WAS):c.671A>G (p.Asp224Gly)

SNV
Unknown

ChrX:48686892

Likely pathogenic

Wiskott-Aldrich syndrome

Criteria Provided
Single Submitter

CA412870771

rs_2519283290

1 SubmittersRCV003152995

NM_022552.5(DNMT3A):c.2479-1G>A

SNV
Unknown

Chr2:25235826

Likely pathogenic

Tatton-Brown-Rahman overgrowth syndrome

Criteria Provided
Single Submitter

CA1555549

rs_775933506

1 SubmittersRCV003153226

NM_003172.4(SURF1):c.817C>T (p.Gln273Ter)

SNV
Germline

Chr9:133352077

Pathogenic

Leigh syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA200832039

rs_782076866

2 SubmittersRCV003155662

NM_000534.5(PMS1):c.1427A>G (p.Asp476Gly)

SNV
Germline

Chr2:189854699

Conflicting classifications of pathogenicity

Ovarian cancer
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA2026662

rs_571235425

2 SubmittersRCV003154670 RCV004577035

NM_000249.4(MLH1):c.2104-4C>G

SNV
Germline

Chr3:37050482

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA2580069520

rs_2148521639

4 SubmittersRCV003172124 RCV003779549 RCV004009642

NM_000251.3(MSH2):c.2091T>G (p.Cys697Trp)

SNV
Germline

Chr2:47476452

Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346729216

rs_63750872

2 SubmittersRCV003182930 RCV003455778

NM_000251.3(MSH2):c.1208A>G (p.Asp403Gly)

SNV
Germline

Chr2:47429873

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA346733996

rs_1344783415

4 SubmittersRCV003182953 RCV003459800 RCV003759798

NM_000179.3(MSH6):c.3277G>T (p.Gly1093Ter)

SNV
Germline

Chr2:47803524

Pathogenic

Lynch syndrome 5
Hereditary cancer-predisposing syndrome
Mismatch repair cancer syndrome 3
Endometrial carcinoma
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346758294

rs_876659302

3 SubmittersRCV003455776 RCV003182626 RCV005399278

NM_014159.7(SETD2):c.2395G>A (p.Asp799Asn)

SNV
Germline

Chr3:47122241

Conflicting classifications of pathogenicity

Inborn genetic diseases
Luscan-Lumish syndrome

Criteria Provided
Conflicting Classifications

CA2363540

rs_367547253

2 SubmittersRCV003220971 RCV005101347

NM_000377.3(WAS):c.104T>C (p.Leu35Pro)

SNV
Germline

ChrX:48683957

Likely pathogenic

Wiskott-Aldrich syndrome

Criteria Provided
Single Submitter

CA412865777

rs_2519277671

1 SubmittersRCV003219202

NM_002495.4(NDUFS4):c.350+1G>T

SNV
Germline

Chr5:53646406

Pathogenic

Leigh syndrome

Criteria Provided
Single Submitter

CA359719917

rs_1260453815

1 SubmittersRCV004594688

NM_017547.4(FOXRED1):c.265C>T (p.Arg89Ter)

SNV
Germline

Chr11:126271616

Likely pathogenic

Leigh syndrome

Criteria Provided
Single Submitter

CA6354012

rs_758408106

1 SubmittersRCV003226822

NM_022552.5(DNMT3A):c.2597+1G>A

SNV
Germline

Chr2:25235706

Pathogenic

Tatton-Brown-Rahman overgrowth syndrome

No Assertion Criteria Provided

CA1555528

rs_764855628

1 SubmittersRCV003227565

NM_022552.5(DNMT3A):c.1481G>C (p.Cys494Ser)

SNV
Germline

Chr2:25245326

Pathogenic

Tatton-Brown-Rahman overgrowth syndrome

Criteria Provided
Single Submitter

CA346072483

rs_1240736156

1 SubmittersRCV003227566

NM_024426.6(WT1):c.114C>G (p.Val38=)

SNV
Germline

Chr11:32435247

Conflicting classifications of pathogenicity

Condition: not provided
11p partial monosomy syndrome
Wilms tumor 1
Drash syndrome
Frasier syndrome

Criteria Provided
Conflicting Classifications

CA473773290

rs_2494488708

2 SubmittersRCV003229364 RCV003779830

NM_000179.3(MSH6):c.2308G>T (p.Gly770Cys)

SNV
Germline

Chr2:47800291

Likely pathogenic

Lynch syndrome 1

No Assertion Criteria Provided

CA346753105

rs_1669447063

1 SubmittersRCV003229514

NM_006218.4(PIK3CA):c.2702G>T (p.Cys901Phe)

SNV
Germline

Chr3:179230039

Likely pathogenic

PIK3CA related overgrowth syndrome

Criteria Provided
Single Submitter

CA355279443

rs_2108424082

1 SubmittersRCV003233340

NM_024426.6(WT1):c.1498C>T (p.Arg500Trp)

SNV
Germline

Chr11:32389129

Likely pathogenic

WT1-related disorder
6 conditions
11p partial monosomy syndrome
Wilms tumor 1
Drash syndrome
Frasier syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA379957656

rs_2132898935

3 SubmittersRCV003233448 RCV005047480 RCV005227950

NM_000179.3(MSH6):c.236C>A (p.Ser79Ter)

SNV
Germline

Chr2:47783469

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346735108

rs_1428717797

2 SubmittersRCV003278512 RCV003455790

NM_000535.7(PMS2):c.538-2A>T

SNV
Unknown

Chr7:5999277

Likely pathogenic

Lynch syndrome 4

Criteria Provided
Single Submitter

CA366744140

rs_758304323

1 SubmittersRCV003316952

NM_000179.3(MSH6):c.457+1G>A

SNV
Germline

Chr2:47791124

Likely pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

CA346737214

rs_2104112957

2 SubmittersRCV003455799

NM_022552.5(DNMT3A):c.1258A>T (p.Lys420Ter)

SNV
Unknown

Chr2:25246641

Pathogenic

Tatton-Brown-Rahman overgrowth syndrome

No Assertion Criteria Provided

CA346073005

rs_1674811011

1 SubmittersRCV003320002

NM_022552.5(DNMT3A):c.1279G>T (p.Glu427Ter)

SNV
Germline

Chr2:25246620

Pathogenic

Tatton-Brown-Rahman overgrowth syndrome

No Assertion Criteria Provided

CA346072959

rs_1558669897

1 SubmittersRCV003320345

NM_000179.3(MSH6):c.2982C>A (p.Tyr994Ter)

SNV
Germline

Chr2:47800965

Pathogenic/Likely pathogenic

Lynch syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA346756361

rs_367758473

2 SubmittersRCV005055464 RCV003320950

NM_000251.3(MSH2):c.2101G>T (p.Glu701Ter)

SNV
Germline

Chr2:47476462

Pathogenic

Lynch syndrome

Criteria Provided
Single Submitter

CA346729235

rs_776820509

1 SubmittersRCV003322653

NM_000251.3(MSH2):c.93C>T (p.Thr31=)

SNV
Germline

Chr2:47403284

Conflicting classifications of pathogenicity

Condition: not provided
Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA426119392

rs_941967928

4 SubmittersRCV003325653 RCV004009739 RCV004943016 RCV005249498

NM_022552.5(DNMT3A):c.2177G>T (p.Gly726Val)

SNV
Germline

Chr2:25240447

Pathogenic

Tatton-Brown-Rahman overgrowth syndrome

Criteria Provided
Single Submitter

CA346070411

rs_1432383727

1 SubmittersRCV003330172

NM_014159.7(SETD2):c.1771C>T (p.Gln591Ter)

SNV
Unknown

Chr3:47122865

Pathogenic

Luscan-Lumish syndrome

Criteria Provided
Single Submitter

CA352529223

rs_2106689406

1 SubmittersRCV003333597

NM_000179.3(MSH6):c.2788A>T (p.Lys930Ter)

SNV
Unknown

Chr2:47800771

Pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

CA346755521

rs_878853719

1 SubmittersRCV003337110

NM_000535.7(PMS2):c.989-1G>C

SNV
Unknown

Chr7:5989956

Likely pathogenic

Lynch syndrome 4

Criteria Provided
Single Submitter

CA366743045

rs_587780064

1 SubmittersRCV003335669

NM_000535.7(PMS2):c.1144+2T>G

SNV
Germline

Chr7:5989798

Pathogenic/Likely pathogenic

Lynch syndrome 4
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA366742713

rs_267608158

3 SubmittersRCV003335738 RCV003594652 RCV004654200

NM_000179.3(MSH6):c.3438+1G>T

SNV
Unknown

Chr2:47803686

Likely pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

CA346758975

rs_267608096

1 SubmittersRCV003335752

NM_000179.3(MSH6):c.1407T>G (p.Tyr469Ter)

SNV
Unknown

Chr2:47799390

Pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

CA346745240

rs_587781408

1 SubmittersRCV003335762

NM_000179.3(MSH6):c.3446T>A (p.Leu1149Ter)

SNV
Germline

Chr2:47804917

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA070960

rs_768792513

2 SubmittersRCV003360822 RCV003455807

NM_000251.3(MSH2):c.496G>C (p.Val166Leu)

SNV
Germline

Chr2:47410223

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346730655

rs_1672668358

2 SubmittersRCV003350722 RCV003459848

NM_000251.3(MSH2):c.897T>A (p.Tyr299Ter)

SNV
Germline

Chr2:47414373

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346732935

rs_879254104

3 SubmittersRCV003350730 RCV003594656 RCV003455811

NM_000251.3(MSH2):c.272A>C (p.Asp91Ala)

SNV
Germline

Chr2:47408461

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346729575

rs_876660914

4 SubmittersRCV003350732 RCV005104041 RCV003459849

NM_001376571.1(MADD):c.2851A>G (p.Ser951Gly)

SNV
Germline

Chr11:47289901

Conflicting classifications of pathogenicity

Inborn genetic diseases
Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia
Deeah syndrome

Criteria Provided
Conflicting Classifications

CA5974601

rs_780548837

2 SubmittersRCV003345430 RCV004723282

NM_000377.3(WAS):c.632G>A (p.Arg211Gln)

SNV
Germline

ChrX:48686853

Conflicting classifications of pathogenicity

WAS-related disorder
X-linked severe congenital neutropenia
Thrombocytopenia 1
Wiskott-Aldrich syndrome

Criteria Provided
Conflicting Classifications

CA10403962

rs_782584950

2 SubmittersRCV003412234 RCV003778205

NM_000377.3(WAS):c.38G>A (p.Arg13Gln)

SNV
Germline

ChrX:48683891

Conflicting classifications of pathogenicity

Condition: not provided
Thrombocytopenia 1
Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia

Criteria Provided
Conflicting Classifications

CA412865286

rs_1440423616

2 SubmittersRCV003438236 RCV003778454

NM_000179.3(MSH6):c.3173-6T>C

SNV
Germline

Chr2:47803414

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA2496051764

rs_1669729119

3 SubmittersRCV003443758 RCV003778468 RCV005422318

NM_024426.6(WT1):c.384G>A (p.Ala128=)

SNV
Germline

Chr11:32434977

Conflicting classifications of pathogenicity

Condition: not provided
Wilms tumor 1
Frasier syndrome
11p partial monosomy syndrome
Drash syndrome

Criteria Provided
Conflicting Classifications

CA473773718

rs_2133104077

2 SubmittersRCV003442272 RCV003778478

NM_024426.6(WT1):c.769C>T (p.Gln257Ter)

SNV
Germline

Chr11:32428512

Pathogenic

Drash syndrome

Criteria Provided
Single Submitter

CA379963286

rs_2494431103

1 SubmittersRCV003447756

NM_000179.3(MSH6):c.3577G>T (p.Glu1193Ter)

SNV
Germline

Chr2:47805638

Pathogenic/Likely pathogenic

Endometrial carcinoma
Lynch syndrome 5
Mismatch repair cancer syndrome 3
Lynch syndrome 5
Hereditary cancer-predisposing syndrome
Endometrial carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA346760505

rs_63751328

4 SubmittersRCV005399406 RCV003450237 RCV004364745 RCV003459867

NM_000535.7(PMS2):c.841G>T (p.Gly281Ter)

SNV
Germline

Chr7:5995596

Pathogenic/Likely pathogenic

Lynch syndrome 4
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA366743510

rs_1784309424

3 SubmittersRCV003471707 RCV003594695

NM_000535.7(PMS2):c.573C>A (p.Tyr191Ter)

SNV
Unknown

Chr7:5999240

Pathogenic/Likely pathogenic

Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366744063

rs_761134229

2 SubmittersRCV003452423

NM_000179.3(MSH6):c.3826G>T (p.Glu1276Ter)

SNV
Germline

Chr2:47806476

Pathogenic/Likely pathogenic

Lynch syndrome 5
Endometrial carcinoma
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA346761263

rs_2104552999

3 SubmittersRCV003450284 RCV003466082 RCV003759854

NM_000179.3(MSH6):c.1627A>T (p.Lys543Ter)

SNV
Germline

Chr2:47799610

Pathogenic/Likely pathogenic

Endometrial carcinoma
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346747112

rs_1572723712

3 SubmittersRCV003459872 RCV004654224 RCV003450428

NM_004958.4(MTOR):c.5662T>C (p.Phe1888Leu)

SNV
Somatic

Chr1:11129790

Likely pathogenic

Overgrowth syndrome
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA338397663

rs_2100423871

2 SubmittersRCV003458280 RCV004799686

NM_000251.3(MSH2):c.1510+1G>C

SNV
Germline

Chr2:47463155

Pathogenic/Likely pathogenic

Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA346727217

rs_1114167852

2 SubmittersRCV003455914 RCV005100120

NM_000251.3(MSH2):c.2210+2T>A

SNV
Germline

Chr2:47476573

Likely pathogenic

Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA346729442

rs_2104379659

2 SubmittersRCV003455918 RCV004364737

NM_000251.3(MSH2):c.2459-1G>T

SNV
Unknown

Chr2:47480695

Likely pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

CA346730511

rs_1060501991

1 SubmittersRCV003455919

NM_000251.3(MSH2):c.366+1G>C

SNV
Unknown

Chr2:47408556

Likely pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

CA346730170

rs_267607924

1 SubmittersRCV003455921

NM_000251.3(MSH2):c.1811C>A (p.Ala604Asp)

SNV
Unknown

Chr2:47475076

Likely pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

CA346728341

rs_2104338716

1 SubmittersRCV003455922

NM_000251.3(MSH2):c.1714G>T (p.Glu572Ter)

SNV
Unknown

Chr2:47471017

Pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

CA346728149

rs_2104277427

1 SubmittersRCV003455926

NM_000251.3(MSH2):c.2254A>T (p.Arg752Ter)

SNV
Unknown

Chr2:47478315

Pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

CA346729771

rs_2528979840

1 SubmittersRCV003455935

NM_000251.3(MSH2):c.778G>T (p.Glu260Ter)

SNV
Unknown

Chr2:47412546

Pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

CA346732461

rs_1672830765

1 SubmittersRCV003455942

NM_000251.3(MSH2):c.679A>T (p.Arg227Ter)

SNV
Unknown

Chr2:47412447

Pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

CA346731838

rs_756809051

1 SubmittersRCV003455947

NM_000251.3(MSH2):c.2096C>A (p.Ser699Ter)

SNV
Germline

Chr2:47476457

Pathogenic

Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA346729228

rs_587779136

2 SubmittersRCV003455950 RCV003594671

NM_000251.3(MSH2):c.607G>T (p.Gly203Ter)

SNV
Germline

Chr2:47410334

Pathogenic

Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA346731084

rs_587779973

2 SubmittersRCV003455958 RCV003594673

NM_000251.3(MSH2):c.1076+2T>A

SNV
Unknown

Chr2:47416431

Pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

CA346733281

rs_2104254486

1 SubmittersRCV003455961

NM_000251.3(MSH2):c.1076+2T>G

SNV
Unknown

Chr2:47416431

Pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

CA346733283

rs_2104254486

1 SubmittersRCV003455973

NM_000251.3(MSH2):c.2047G>C (p.Gly683Arg)

SNV
Unknown

Chr2:47476408

Pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

CA346729142

rs_267607995

1 SubmittersRCV003455975

NM_000251.3(MSH2):c.803C>G (p.Ser268Ter)

SNV
Unknown

Chr2:47414279

Pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

CA346732756

rs_563410947

1 SubmittersRCV003455981

NM_000251.3(MSH2):c.1115T>A (p.Leu372Ter)

SNV
Unknown

Chr2:47429780

Pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

CA346733597

rs_1573484336

1 SubmittersRCV003450102

NM_000251.3(MSH2):c.32T>A (p.Leu11Ter)

SNV
Unknown

Chr2:47403223

Pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

CA346728494

rs_2103868483

1 SubmittersRCV003450107

NM_000251.3(MSH2):c.295A>T (p.Arg99Ter)

SNV
Unknown

Chr2:47408484

Pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

CA346729616

rs_63750230

1 SubmittersRCV003450137

NM_000251.3(MSH2):c.792+1G>T

SNV
Unknown

Chr2:47412561

Pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

CA346732539

rs_267607934

1 SubmittersRCV003450149

NM_000251.3(MSH2):c.2257G>T (p.Gly753Ter)

SNV
Unknown

Chr2:47478318

Pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

CA346729778

rs_2104400787

1 SubmittersRCV003450153

NM_000251.3(MSH2):c.2271C>A (p.Tyr757Ter)

SNV
Unknown

Chr2:47478332

Pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

CA346729801

rs_56076152

1 SubmittersRCV003450156

NM_000251.3(MSH2):c.773T>A (p.Leu258Ter)

SNV
Unknown

Chr2:47412541

Pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

CA346732434

rs_2104110271

1 SubmittersRCV003450166

NM_000251.3(MSH2):c.1676T>G (p.Leu559Ter)

SNV
Unknown

Chr2:47470979

Pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

CA346728060

rs_1667073440

1 SubmittersRCV003450175

NM_000251.3(MSH2):c.1127T>G (p.Leu376Ter)

SNV
Germline

Chr2:47429792

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346733619

rs_762385137

2 SubmittersRCV004364739 RCV003450180

NM_000251.3(MSH2):c.839T>G (p.Leu280Ter)

SNV
Unknown

Chr2:47414315

Pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

CA346732818

rs_1573451339

1 SubmittersRCV003450185

NM_000251.3(MSH2):c.1018A>T (p.Arg340Ter)

SNV
Unknown

Chr2:47416371

Pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

CA346733156

rs_1553353205

1 SubmittersRCV003450191

NM_000179.3(MSH6):c.3438+1G>C

SNV
Unknown

Chr2:47803686

Likely pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

CA346758974

rs_267608096

1 SubmittersRCV003450214

NM_000179.3(MSH6):c.261-2A>T

SNV
Unknown

Chr2:47790925

Likely pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

CA346736411

rs_2104098003

1 SubmittersRCV003450217

NM_000179.3(MSH6):c.3408T>G (p.Asn1136Lys)

SNV
Unknown

Chr2:47803655

Likely pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

CA346758895

rs_2104485089

1 SubmittersRCV003450218

NM_000179.3(MSH6):c.458-2A>C

SNV
Unknown

Chr2:47795892

Likely pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

CA346738550

rs_2104227716

1 SubmittersRCV003450220

NM_000179.3(MSH6):c.457+2T>G

SNV
Unknown

Chr2:47791125

Likely pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

CA346737225

rs_267608036

1 SubmittersRCV003450226

NM_000179.3(MSH6):c.2773G>T (p.Gly925Ter)

SNV
Germline

Chr2:47800756

Pathogenic

Lynch syndrome 5
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA346755465

rs_2104423405

3 SubmittersRCV003450231 RCV004999938 RCV004943035

NM_000179.3(MSH6):c.472G>T (p.Glu158Ter)

SNV
Unknown

Chr2:47795908

Pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

CA346738584

rs_2104228754

1 SubmittersRCV003450239

NM_000179.3(MSH6):c.2326C>T (p.Gln776Ter)

SNV
Unknown

Chr2:47800309

Pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

CA346753294

rs_2104400928

1 SubmittersRCV003450252

NM_000179.3(MSH6):c.3894T>A (p.Tyr1298Ter)

SNV
Unknown

Chr2:47806544

Pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

CA346761405

rs_1348836250

1 SubmittersRCV003450254

NM_000179.3(MSH6):c.3760G>T (p.Glu1254Ter)

SNV
Germline

Chr2:47806317

Pathogenic

Lynch syndrome 5
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA346761101

rs_1558392392

2 SubmittersRCV003450261 RCV004697297

NM_000179.3(MSH6):c.2811T>A (p.Tyr937Ter)

SNV
Unknown

Chr2:47800794

Pathogenic/Likely pathogenic

Lynch syndrome 5
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA346755626

rs_1572728785

2 SubmittersRCV003450271 RCV004999939

NM_000179.3(MSH6):c.194C>G (p.Ser65Ter)

SNV
Unknown

Chr2:47783427

Pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

CA346735031

rs_41294984

1 SubmittersRCV003450274

NM_000179.3(MSH6):c.3433A>T (p.Arg1145Ter)

SNV
Unknown

Chr2:47803680

Pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

CA346758962

rs_2104486660

1 SubmittersRCV003450276

NM_000179.3(MSH6):c.841G>T (p.Gly281Ter)

SNV
Unknown

Chr2:47798824

Pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

CA346740513

rs_1229666565

1 SubmittersRCV003450286

NM_000179.3(MSH6):c.443T>G (p.Leu148Ter)

SNV
Unknown

Chr2:47791109

Pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

CA346737184

rs_2530440256

1 SubmittersRCV003450287

NM_000179.3(MSH6):c.2440A>T (p.Lys814Ter)

SNV
Unknown

Chr2:47800423

Pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

CA346754049

rs_1064793190

1 SubmittersRCV003450297

NM_000179.3(MSH6):c.1677C>A (p.Cys559Ter)

SNV
Unknown

Chr2:47799660

Pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

CA346747449

rs_63749893

1 SubmittersRCV003450298

NM_000179.3(MSH6):c.676G>T (p.Glu226Ter)

SNV
Unknown

Chr2:47798659

Pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

CA346739866

rs_2104290522

1 SubmittersRCV003450301

NM_000179.3(MSH6):c.373A>T (p.Lys125Ter)

SNV
Germline

Chr2:47791039

Pathogenic

Lynch syndrome 5
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA346737032

rs_372352774

2 SubmittersRCV003450304 RCV005439129

NM_000179.3(MSH6):c.1609A>T (p.Lys537Ter)

SNV
Germline

Chr2:47799592

Pathogenic

Lynch syndrome 5
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA346747008

rs_753276270

2 SubmittersRCV003450308 RCV005439130

NM_000179.3(MSH6):c.2767A>T (p.Lys923Ter)

SNV
Germline

Chr2:47800750

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346755452

rs_1558666660

2 SubmittersRCV004364748 RCV003450324

NM_000179.3(MSH6):c.1510A>T (p.Lys504Ter)

SNV
Germline

Chr2:47799493

Pathogenic

Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA346746286

rs_1553412902

2 SubmittersRCV003450341 RCV005251363

NM_000179.3(MSH6):c.3731T>A (p.Leu1244Ter)

SNV
Unknown

Chr2:47806288

Pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

CA346761035

rs_1558392241

1 SubmittersRCV003450344

NM_000179.3(MSH6):c.685G>T (p.Glu229Ter)

SNV
Unknown

Chr2:47798668

Pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

CA346739903

rs_876660694

1 SubmittersRCV003450362

NM_000179.3(MSH6):c.2608A>T (p.Lys870Ter)

SNV
Unknown

Chr2:47800591

Pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

CA346754967

rs_1310418564

1 SubmittersRCV003450388

NM_000179.3(MSH6):c.1597G>T (p.Glu533Ter)

SNV
Unknown

Chr2:47799580

Pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

CA346746936

rs_1553412979

1 SubmittersRCV003450425

NM_000179.3(MSH6):c.2036T>A (p.Leu679Ter)

SNV
Unknown

Chr2:47800019

Pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

CA346750733

rs_781668793

1 SubmittersRCV003450427

NM_000179.3(MSH6):c.2074A>T (p.Lys692Ter)

SNV
Unknown

Chr2:47800057

Pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

CA346750804

rs_752532578

1 SubmittersRCV003450432

NM_000179.3(MSH6):c.3554C>A (p.Ser1185Ter)

SNV
Unknown

Chr2:47805025

Pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

CA346760276

rs_1572739043

1 SubmittersRCV003450433

NM_000535.7(PMS2):c.1694T>A (p.Leu565Ter)

SNV
Unknown

Chr7:5987071

Pathogenic

Lynch syndrome 4

Criteria Provided
Single Submitter

CA366741168

rs_1783008091

1 SubmittersRCV003450507

NM_000179.3(MSH6):c.4001G>T (p.Arg1334Leu)

SNV
Unknown

Chr2:47806651

Likely pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

CA346761610

rs_267608122

1 SubmittersRCV003450515

NM_000535.7(PMS2):c.903G>C (p.Lys301Asn)

SNV
Unknown

Chr7:5995534

Likely pathogenic

Lynch syndrome 4

Criteria Provided
Single Submitter

CA366743397

rs_267608153

1 SubmittersRCV003450525

NM_000179.3(MSH6):c.1141G>T (p.Glu381Ter)

SNV
Unknown

Chr2:47799124

Pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

CA346742150

rs_142111387

1 SubmittersRCV003450538

NM_000251.3(MSH2):c.1387-2A>T

SNV
Germline

Chr2:47463029

Likely pathogenic

Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA346726643

rs_1573547594

2 SubmittersRCV003452227 RCV003759863

NM_000535.7(PMS2):c.221G>A (p.Gly74Glu)

SNV
Germline

Chr7:6004001

Conflicting classifications of pathogenicity

Condition: not provided
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA366744817

rs_876661272

3 SubmittersRCV004596585 RCV003452384

NM_000535.7(PMS2):c.2039G>A (p.Gly680Asp)

SNV
Germline

Chr7:5982959

Likely pathogenic

Lynch syndrome 4
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA366738129

rs_2128704364

2 SubmittersRCV003452385 RCV005467963

NM_000535.7(PMS2):c.2528G>C (p.Cys843Ser)

SNV
Unknown

Chr7:5973460

Likely pathogenic

Lynch syndrome 4

Criteria Provided
Single Submitter

CA366734860

rs_267608174

1 SubmittersRCV003452388

NM_000535.7(PMS2):c.164-1G>T

SNV
Unknown

Chr7:6004059

Likely pathogenic

Lynch syndrome 4

Criteria Provided
Single Submitter

CA366744936

rs_763308607

1 SubmittersRCV003452389

NM_000535.7(PMS2):c.2501T>C (p.Met834Thr)

SNV
Unknown

Chr7:5973487

Likely pathogenic

Lynch syndrome 4

Criteria Provided
Single Submitter

CA366734924

rs_2128658183

1 SubmittersRCV003452390

NM_000535.7(PMS2):c.251-1G>C

SNV
Germline

Chr7:6003793

Pathogenic/Likely pathogenic

Lynch syndrome 4
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA048613

rs_764171734

3 SubmittersRCV003452392 RCV004654228 RCV003759864

NM_000535.7(PMS2):c.804-11A>G

SNV
Germline

Chr7:5995644

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA2695198421

rs_2128776611

2 SubmittersRCV003585403 RCV003452393

NM_000535.7(PMS2):c.622C>T (p.Gln208Ter)

SNV
Germline

Chr7:5999191

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366743967

rs_1784808623

2 SubmittersRCV003594681 RCV003452400

NM_000535.7(PMS2):c.1217T>G (p.Leu406Ter)

SNV
Germline

Chr7:5987548

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366742546

rs_759692592

2 SubmittersRCV003585404 RCV003452406

NM_000535.7(PMS2):c.2335G>T (p.Gly779Ter)

SNV
Unknown

Chr7:5977698

Pathogenic

Lynch syndrome 4

Criteria Provided
Single Submitter

CA366735943

rs_587780053

1 SubmittersRCV003452409

NM_000535.7(PMS2):c.909C>A (p.Cys303Ter)

SNV
Unknown

Chr7:5992052

Pathogenic

Lynch syndrome 4

Criteria Provided
Single Submitter

CA366743215

rs_1199497563

1 SubmittersRCV003452416

NM_000535.7(PMS2):c.584C>A (p.Ser195Ter)

SNV
Germline

Chr7:5999229

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366744038

rs_2128801488

2 SubmittersRCV003778513 RCV003452419

NM_000535.7(PMS2):c.1545C>A (p.Cys515Ter)

SNV
Unknown

Chr7:5987220

Pathogenic

Lynch syndrome 4

Criteria Provided
Single Submitter

CA366741621

rs_1057520347

1 SubmittersRCV003452430

NM_000535.7(PMS2):c.1417G>T (p.Glu473Ter)

SNV
Unknown

Chr7:5987348

Pathogenic

Lynch syndrome 4

Criteria Provided
Single Submitter

CA366742056

rs_786203427

1 SubmittersRCV003452432

NM_000535.7(PMS2):c.447C>G (p.Tyr149Ter)

SNV
Unknown

Chr7:6002543

Pathogenic

Lynch syndrome 4

Criteria Provided
Single Submitter

CA366744328

rs_1224505288

1 SubmittersRCV003452433

NM_000535.7(PMS2):c.757G>T (p.Glu253Ter)

SNV
Unknown

Chr7:5997372

Pathogenic

Lynch syndrome 4

Criteria Provided
Single Submitter

CA366743698

rs_2536223812

1 SubmittersRCV003452441

NM_000535.7(PMS2):c.20C>A (p.Ser7Ter)

SNV
Unknown

Chr7:6009000

Pathogenic

Lynch syndrome 4

Criteria Provided
Single Submitter

CA366745222

rs_587780048

1 SubmittersRCV003452444

NM_000535.7(PMS2):c.298C>T (p.Gln100Ter)

SNV
Germline

Chr7:6003745

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366744631

rs_1554304696

2 SubmittersRCV005399407 RCV003452453

NM_000249.4(MLH1):c.1043T>A (p.Leu348Ter)

SNV
Germline

Chr3:37025641

Pathogenic

Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA352052029

rs_755401753

4 SubmittersRCV003452643 RCV005100143 RCV004943049 RCV005439132

NM_000251.3(MSH2):c.989T>G (p.Leu330Arg)

SNV
Unknown

Chr2:47416342

Likely pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

CA346733105

rs_63750630

1 SubmittersRCV003454364

NM_000251.3(MSH2):c.2087C>G (p.Pro696Arg)

SNV
Unknown

Chr2:47476448

Likely pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

CA346729211

rs_267607994

1 SubmittersRCV003454366

NM_000251.3(MSH2):c.2194A>C (p.Thr732Pro)

SNV
Unknown

Chr2:47476555

Likely pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

CA346729410

rs_1667315990

1 SubmittersRCV003454367

NM_000251.3(MSH2):c.2246A>G (p.Glu749Gly)

SNV
Unknown

Chr2:47478307

Likely pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

CA346729754

rs_2528979410

1 SubmittersRCV003454368

NM_000251.3(MSH2):c.2005+2T>A

SNV
Unknown

Chr2:47475272

Likely pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

CA346728974

rs_267607987

1 SubmittersRCV003454371

NM_000251.3(MSH2):c.809T>G (p.Leu270Arg)

SNV
Unknown

Chr2:47414285

Likely pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

CA346732764

rs_1573451078

1 SubmittersRCV003454372

NM_024426.6(WT1):c.1384C>T (p.Gln462Ter)

SNV
Germline

Chr11:32392035

Likely pathogenic

Frasier syndrome
Nephrotic syndrome, type 4
Meacham syndrome
Drash syndrome
Nephrotic syndrome, type 4

Criteria Provided
Multiple Submitters
No Conflicts

CA379958911

rs_2132914929

2 SubmittersRCV003985900 RCV004577623

NM_000251.3(MSH2):c.120C>T (p.Gly40=)

SNV
Unknown

Chr2:47403311

Conflicting classifications of pathogenicity

Condition: not provided
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA426119424

rs_2103875094

2 SubmittersRCV003477299 RCV005249516

NM_024426.6(WT1):c.1244T>A (p.Met415Lys)

SNV
Germline

Chr11:32396277

Conflicting classifications of pathogenicity

Male infertility with azoospermia or oligozoospermia due to single gene mutation
Inborn genetic diseases
Frasier syndrome
Wilms tumor 1
11p partial monosomy syndrome
Drash syndrome

Criteria Provided
Conflicting Classifications

CA379959808

rs_1590338659

3 SubmittersRCV003991634 RCV004963680 RCV005216131

NM_181523.3(PIK3R1):c.1718T>C (p.Leu573Pro)

SNV
Somatic

Chr5:68295297

Pathogenic

Overgrowth syndrome

No Assertion Criteria Provided

CA359883102

rs_761402403

1 SubmittersRCV003493323

NM_003172.4(SURF1):c.3G>A (p.Met1Ile)

SNV
Germline

Chr9:133356451

Pathogenic

Leigh syndrome

Criteria Provided
Single Submitter

CA375695219

rs_1442463591

1 SubmittersRCV003510923

NM_000179.3(MSH6):c.1633A>T (p.Lys545Ter)

SNV
Germline

Chr2:47799616

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346747170

rs_1064793403

2 SubmittersRCV003595058 RCV004368999

NM_022552.5(DNMT3A):c.1667+1G>A

SNV
Germline

Chr2:25244539

Likely pathogenic

Tatton-Brown-Rahman overgrowth syndrome

Criteria Provided
Single Submitter

CA1555916

rs_776844136

1 SubmittersRCV003584060

NM_003172.4(SURF1):c.321C>A (p.Ala107=)

SNV
Germline

Chr9:133354661

Conflicting classifications of pathogenicity

Leigh syndrome
not specified

Criteria Provided
Conflicting Classifications

CA860710214

rs_141425824

2 SubmittersRCV003511398 RCV005240816

NM_003172.4(SURF1):c.808G>T (p.Glu270Ter)

SNV
Germline

Chr9:133352086

Pathogenic

Leigh syndrome

Criteria Provided
Single Submitter

CA375693477

rs_781924765

1 SubmittersRCV003511461

NM_003172.4(SURF1):c.752-3C>G

SNV
Germline

Chr9:133352145

Likely pathogenic

Leigh syndrome

Criteria Provided
Single Submitter

CA2695211584

rs_2490614044

1 SubmittersRCV003511462

NM_003172.4(SURF1):c.640C>T (p.Gln214Ter)

SNV
Germline

Chr9:133352557

Pathogenic

Leigh syndrome

Criteria Provided
Single Submitter

CA375693835

rs_2119081117

1 SubmittersRCV003511463

NM_000540.3(RYR1):c.14678G>T (p.Arg4893Leu)

SNV
Germline

Chr19:38584974

Likely pathogenic

Malignant hyperthermia, susceptibility to, 1
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
King Denborough syndrome
RYR1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA405690254

rs_118192151

2 SubmittersRCV005030121 RCV003591149

NM_000535.7(PMS2):c.603T>C (p.Ser201=)

SNV
Germline

Chr7:5999210

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA453647132

rs_2128801080

3 SubmittersRCV003593783 RCV004369409 RCV005425163

NM_022552.5(DNMT3A):c.457C>T (p.Gln153Ter)

SNV
Germline

Chr2:25275535

Pathogenic

Tatton-Brown-Rahman overgrowth syndrome

Criteria Provided
Single Submitter

CA346083274

rs_2465786402

1 SubmittersRCV003584278

NM_000179.3(MSH6):c.14G>C (p.Ser5Thr)

SNV
Germline

Chr2:47783247

Conflicting classifications of pathogenicity

Endometrial carcinoma
Mismatch repair cancer syndrome 3
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA067765

rs_532585602

2 SubmittersRCV005392646 RCV003593807

NM_000251.3(MSH2):c.2211-10T>C

SNV
Germline

Chr2:47478262

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA2697548047

rs_267608006

3 SubmittersRCV003584471 RCV003759891 RCV005249567

NM_000535.7(PMS2):c.*2C>G

SNV
Germline

Chr7:5973397

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA049053

rs_764124442

2 SubmittersRCV003585722 RCV005422363

NM_018344.6(SLC29A3):c.777C>A (p.Tyr259Ter)

SNV
Germline

Chr10:71361957

Pathogenic

H syndrome

Criteria Provided
Single Submitter

CA209387686

rs_1015206890

1 SubmittersRCV003646058

NM_022552.5(DNMT3A):c.2259G>A (p.Trp753Ter)

SNV
Germline

Chr2:25240365

Pathogenic

Tatton-Brown-Rahman overgrowth syndrome

Criteria Provided
Single Submitter

CA346069907

rs_770785915

1 SubmittersRCV003746731

NM_000249.4(MLH1):c.2104-13A>T

SNV
Germline

Chr3:37050473

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA2702493472

rs_2148521475

3 SubmittersRCV003759966 RCV005249573 RCV004011650

NM_003172.4(SURF1):c.361A>T (p.Lys121Ter)

SNV
Germline

Chr9:133353903

Pathogenic

Leigh syndrome

Criteria Provided
Single Submitter

CA375694441

rs_2490620007

1 SubmittersRCV003620051

NM_000535.7(PMS2):c.270T>C (p.Ser90=)

SNV
Germline

Chr7:6003773

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA453647997

rs_876660414

3 SubmittersRCV003760128 RCV005468008 RCV005422378

NM_001375834.1(WIPF1):c.587C>G (p.Ser196Ter)

SNV
Germline

Chr2:174572218

Pathogenic

Wiskott-Aldrich syndrome 2

Criteria Provided
Single Submitter

CA349342727

rs_2468475708

1 SubmittersRCV003643830

NM_001379500.1(COL18A1):c.798+1G>T

SNV
Germline

Chr21:45475536

Likely pathogenic

Condition: not provided
Hereditary glaucoma, primary closed-angle
Knobloch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10065901

rs_753984170

2 SubmittersRCV003678276 RCV005392659

NM_000251.3(MSH2):c.1347G>A (p.Lys449=)

SNV
Germline

Chr2:47445618

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA425955549

rs_587781331

3 SubmittersRCV005445916 RCV003758379 RCV005249601

NM_000179.3(MSH6):c.940A>C (p.Ser314Arg)

SNV
Germline

Chr2:47798923

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA346740775

rs_1553412366

3 SubmittersRCV004636800 RCV003758465 RCV005422396

NM_000179.3(MSH6):c.1744T>C (p.Phe582Leu)

SNV
Germline

Chr2:47799727

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA346748887

rs_2104364872

2 SubmittersRCV003758429 RCV005422394

NM_003172.4(SURF1):c.240+1G>A

SNV
Germline

Chr9:133354823

Pathogenic

Leigh syndrome

Criteria Provided
Single Submitter

CA375694712

rs_781948238

1 SubmittersRCV003621292

NM_003172.4(SURF1):c.588+1G>C

SNV
Germline

Chr9:133352693

Pathogenic

Leigh syndrome

Criteria Provided
Single Submitter

CA375693955

rs_1219762677

1 SubmittersRCV003621468

NM_003172.4(SURF1):c.42G>A (p.Ala14=)

SNV
Germline

Chr9:133356412

Conflicting classifications of pathogenicity

Leigh syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA860712583

rs_1456292063

2 SubmittersRCV003621407 RCV004780621

NM_003172.4(SURF1):c.54+1G>A

SNV
Germline

Chr9:133356399

Likely pathogenic

Leigh syndrome

Criteria Provided
Single Submitter

CA375695123

rs_1588693774

1 SubmittersRCV003619208

NM_003172.4(SURF1):c.1A>T (p.Met1Leu)

SNV
Germline

Chr9:133356453

Pathogenic

Leigh syndrome

Criteria Provided
Single Submitter

CA375695225

rs_1836592105

1 SubmittersRCV003620271

NM_022552.5(DNMT3A):c.1523T>C (p.Leu508Pro)

SNV
Germline

Chr2:25245284

Likely pathogenic

Tatton-Brown-Rahman overgrowth syndrome

Criteria Provided
Single Submitter

CA43704269

rs_1056677010

1 SubmittersRCV003747530

NM_000535.7(PMS2):c.538-14T>C

SNV
Germline

Chr7:5999289

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA2713826134

rs_2128802538

2 SubmittersRCV003760587 RCV005422418

NM_000251.3(MSH2):c.2760T>C (p.Asn920=)

SNV
Germline

Chr2:47482904

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA425971843

rs_2104462361

3 SubmittersRCV003760568 RCV005422416 RCV005000021

NM_000540.3(RYR1):c.11608+1G>A

SNV
Germline

Chr19:38536768

Likely pathogenic

RYR1-related disorder
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA405657664

rs_1354044963

2 SubmittersRCV003757143 RCV005014940

NM_002577.4(PAK2):c.1273G>A (p.Asp425Asn)

SNV
Germline

Chr3:196820490

Likely pathogenic

Knobloch syndrome 2

Criteria Provided
Single Submitter

CA355643282

rs_2474001104

1 SubmittersRCV003764498

NM_024426.6(WT1):c.513C>T (p.Gly171=)

SNV
Germline

Chr11:32434848

Conflicting classifications of pathogenicity

Wilms tumor 1
11p partial monosomy syndrome
Frasier syndrome
Drash syndrome
Inborn genetic diseases
6 conditions

Criteria Provided
Conflicting Classifications

CA473571566

rs_536728682

3 SubmittersRCV003785843 RCV005311063 RCV005040501

NM_000377.3(WAS):c.399G>T (p.Glu133Asp)

SNV
Germline

ChrX:48685772

Pathogenic

Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia
Thrombocytopenia 1

Criteria Provided
Single Submitter

CA412867667

rs_2519280825

1 SubmittersRCV003783760

NM_000377.3(WAS):c.687G>T (p.Gly229=)

SNV
Germline

ChrX:48686908

Pathogenic

Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia
Thrombocytopenia 1

Criteria Provided
Single Submitter

CA516023304

rs_2147264930

1 SubmittersRCV003783764

NM_000377.3(WAS):c.1318C>T (p.Gln440Ter)

SNV
Germline

ChrX:48689046

Pathogenic

Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia
Thrombocytopenia 1

Criteria Provided
Single Submitter

CA412873713

rs_1243089358

1 SubmittersRCV003783767

NM_000377.3(WAS):c.734+1G>C

SNV
Germline

ChrX:48686956

Pathogenic

Thrombocytopenia 1
Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia

Criteria Provided
Single Submitter

CA412871158

rs_2519283517

1 SubmittersRCV003797908

NM_024426.6(WT1):c.1373G>A (p.Cys458Tyr)

SNV
Germline

Chr11:32392046

Pathogenic

Wilms tumor 1
11p partial monosomy syndrome
Frasier syndrome
Drash syndrome

Criteria Provided
Single Submitter

CA379958955

rs_2132915129

1 SubmittersRCV003783568

NM_024426.6(WT1):c.368C>A (p.Ser123Ter)

SNV
Germline

Chr11:32434993

Pathogenic

Wilms tumor 1
11p partial monosomy syndrome
Frasier syndrome
Drash syndrome

Criteria Provided
Single Submitter

CA379965837

rs_2133104248

1 SubmittersRCV003783571

NM_024426.6(WT1):c.363C>A (p.Tyr121Ter)

SNV
Germline

Chr11:32434998

Pathogenic

Wilms tumor 1
11p partial monosomy syndrome
Frasier syndrome
Drash syndrome

Criteria Provided
Single Submitter

CA379965848

rs_977632626

1 SubmittersRCV003783572

NM_015272.5(RPGRIP1L):c.2959-8A>G

SNV
Germline

Chr16:53638419

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Joubert syndrome
Meckel syndrome, type 5
COACH syndrome 3
Joubert syndrome 7

Criteria Provided
Conflicting Classifications

CA2633237284

rs_2544002792

2 SubmittersRCV003789512 RCV005013185

NM_001378615.1(CC2D2A):c.1359+1G>C

SNV
Germline

Chr4:15527657

Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome
Meckel syndrome, type 6
COACH syndrome 2
Joubert syndrome 9
Retinitis pigmentosa 93

Criteria Provided
Multiple Submitters
No Conflicts

CA356410569

rs_1717586613

2 SubmittersRCV003779435 RCV005030262

NM_001378615.1(CC2D2A):c.463C>T (p.Gln155Ter)

SNV
Germline

Chr4:15510163

Pathogenic/Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 6
COACH syndrome 2
Joubert syndrome 9
Retinitis pigmentosa 93

Criteria Provided
Multiple Submitters
No Conflicts

CA356408524

rs_2474909050

2 SubmittersRCV003780839 RCV005038508

NM_015272.5(RPGRIP1L):c.2304+14G>C

SNV
Germline

Chr16:53648950

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Joubert syndrome
Meckel syndrome, type 5
COACH syndrome 3
Joubert syndrome 7

Criteria Provided
Conflicting Classifications

CA8057583

rs_574635809

2 SubmittersRCV003789038 RCV005014958

NM_015272.5(RPGRIP1L):c.3835+13G>A

SNV
Germline

Chr16:53605468

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Joubert syndrome
Meckel syndrome, type 5
COACH syndrome 3
Joubert syndrome 7

Criteria Provided
Conflicting Classifications

CA395920796

rs_776026998

2 SubmittersRCV003792956 RCV005013188

NM_000377.3(WAS):c.524C>T (p.Pro175Leu)

SNV
Germline

ChrX:48686099

Conflicting classifications of pathogenicity

X-linked severe congenital neutropenia
Thrombocytopenia 1
Wiskott-Aldrich syndrome

Criteria Provided
Conflicting Classifications

CA10403941

rs_149932808

2 SubmittersRCV003787973

NM_024426.6(WT1):c.640C>T (p.Gln214Ter)

SNV
Germline

Chr11:32434721

Pathogenic

Wilms tumor 1
11p partial monosomy syndrome
Frasier syndrome
Drash syndrome

Criteria Provided
Single Submitter

CA379964449

rs_2133101249

1 SubmittersRCV003790865

NM_000377.3(WAS):c.706G>A (p.Ala236Thr)

SNV
Germline

ChrX:48686927

Conflicting classifications of pathogenicity

Thrombocytopenia 1
Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia

Criteria Provided
Conflicting Classifications

CA10403968

rs_782415042

2 SubmittersRCV003793561

NM_001378615.1(CC2D2A):c.2923-1G>A

SNV
Germline

Chr4:15560530

Pathogenic/Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome 9
COACH syndrome 2
Meckel syndrome, type 6
Retinitis pigmentosa 93

Criteria Provided
Multiple Submitters
No Conflicts

CA356413310

rs_2475051413

2 SubmittersRCV003800059 RCV004796847

NM_015272.5(RPGRIP1L):c.776+1G>C

SNV
Germline

Chr16:53686432

Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome
Meckel syndrome, type 5
COACH syndrome 3
Joubert syndrome 7

Criteria Provided
Multiple Submitters
No Conflicts

CA395923724

rs_771226563

2 SubmittersRCV003798673 RCV005014972

NM_015272.5(RPGRIP1L):c.2428C>T (p.Gln810Ter)

SNV
Germline

Chr16:53645880

Pathogenic/Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA395914645

rs_2544106771

2 SubmittersRCV003797513 RCV005014974

NM_024426.6(WT1):c.1448-13A>G

SNV
Germline

Chr11:32389192

Conflicting classifications of pathogenicity

Wilms tumor 1
11p partial monosomy syndrome
Frasier syndrome
Drash syndrome
Wilms tumor 1

Criteria Provided
Conflicting Classifications

CA219471773

rs_768449767

2 SubmittersRCV003800578 RCV004006058

NM_000377.3(WAS):c.638G>A (p.Arg213His)

SNV
Germline

ChrX:48686859

Conflicting classifications of pathogenicity

Thrombocytopenia 1
Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10403963

rs_782224455

2 SubmittersRCV003809117 RCV004676291

NM_015272.5(RPGRIP1L):c.3430C>T (p.Gln1144Ter)

SNV
Germline

Chr16:53622221

Pathogenic/Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA395923935

rs_1050777749

2 SubmittersRCV003809291 RCV005013198

NM_000377.3(WAS):c.463+1G>A

SNV
Germline

ChrX:48685837

Likely pathogenic

Thrombocytopenia 1
Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia

Criteria Provided
Single Submitter

CA412868350

rs_2519281091

1 SubmittersRCV003801681

NM_024426.6(WT1):c.965+2T>C

SNV
Germline

Chr11:32417575

Likely pathogenic

Wilms tumor 1
11p partial monosomy syndrome
Drash syndrome
Frasier syndrome

Criteria Provided
Single Submitter

CA379961976

rs_2133036598

1 SubmittersRCV003813279

NM_000377.3(WAS):c.82C>T (p.Gln28Ter)

SNV
Germline

ChrX:48683935

Pathogenic

Thrombocytopenia 1
Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia

Criteria Provided
Single Submitter

CA412865612

rs_2519277606

1 SubmittersRCV003807543

NM_000251.3(MSH2):c.1577C>G (p.Thr526Ser)

SNV
Germline

Chr2:47466724

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346727836

rs_1204369578

4 SubmittersRCV003815000 RCV004006088 RCV004573343 RCV004943244

NM_000540.3(RYR1):c.12095-2A>G

SNV
Germline

Chr19:38548231

Likely pathogenic

RYR1-related disorder
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA405665017

rs_2514599811

2 SubmittersRCV003849843 RCV005015040

NM_000540.3(RYR1):c.7927-1G>T

SNV
Germline

Chr19:38504219

Likely pathogenic

RYR1-related disorder
King Denborough syndrome
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA405675342

rs_2514351010

2 SubmittersRCV003874299 RCV005030352

NM_003172.4(SURF1):c.1A>G (p.Met1Val)

SNV
Germline

Chr9:133356453

Pathogenic

Leigh syndrome

Criteria Provided
Single Submitter

CA375695224

rs_1836592105

1 SubmittersRCV003877555

NM_018344.6(SLC29A3):c.2T>A (p.Met1Lys)

SNV
Germline

Chr10:71322756

Likely pathogenic

H syndrome

No Assertion Criteria Provided

1 SubmittersRCV004698435

NM_001379500.1(COL18A1):c.3083C>A (p.Ser1028Ter)

SNV
Unknown

Chr21:45505427

Likely pathogenic

Knobloch syndrome 1

Criteria Provided
Single Submitter

CA410499796

rs_2517795259

1 SubmittersRCV003883229

NM_000540.3(RYR1):c.14804G>A (p.Gly4935Asp)

SNV
Germline

Chr19:38585938

Pathogenic

King Denborough syndrome
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Single Submitter

CA405692125

rs_979090493

1 SubmittersRCV003883301

NM_015272.5(RPGRIP1L):c.674T>G (p.Leu225Ter)

SNV
Germline

Chr16:53686535

Likely pathogenic

RPGRIP1L-related disorder
Joubert syndrome 7
COACH syndrome 3
Meckel syndrome, type 5

Criteria Provided
Single Submitter

CA395924257

rs_746227955

2 SubmittersRCV004531844 RCV005015087

NM_000377.3(WAS):c.1453+1G>A

SNV
Germline

ChrX:48689435

Pathogenic

WAS-related disorder
Thrombocytopenia 1
Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia

Criteria Provided
Single Submitter

CA412874028

rs_2519289166

2 SubmittersRCV003932228 RCV005220798

NM_022552.5(DNMT3A):c.1627G>C (p.Gly543Arg)

SNV
Germline

Chr2:25244580

Pathogenic

Tatton-Brown-Rahman overgrowth syndrome

Criteria Provided
Single Submitter

CA346072142

rs_752222356

1 SubmittersRCV003985952

NM_022552.5(DNMT3A):c.1684T>G (p.Cys562Gly)

SNV
Germline

Chr2:25244322

Pathogenic

Tatton-Brown-Rahman overgrowth syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004723557

NM_022552.5(DNMT3A):c.1925G>T (p.Gly642Val)

SNV
Germline

Chr2:25243909

Likely pathogenic

Tatton-Brown-Rahman overgrowth syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004723558

NM_022552.5(DNMT3A):c.1267G>T (p.Glu423Ter)

SNV
Germline

Chr2:25246632

Likely pathogenic

Tatton-Brown-Rahman overgrowth syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004723559

NM_022552.5(DNMT3A):c.1430-1G>C

SNV
Germline

Chr2:25246065

Likely pathogenic

Tatton-Brown-Rahman overgrowth syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004723560

NM_014159.7(SETD2):c.5123G>C (p.Arg1708Pro)

SNV
Germline

Chr3:47097974

Likely pathogenic

Luscan-Lumish syndrome

Criteria Provided
Single Submitter

CA352511856

rs_2107674146

1 SubmittersRCV003990322

NM_000251.3(MSH2):c.211G>A (p.Gly71Arg)

SNV
Germline

Chr2:47403402

Likely pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

CA346729065

rs_587782659

1 SubmittersRCV003990424

NM_001376571.1(MADD):c.63-2A>G

SNV
Germline

Chr11:47274561

Likely pathogenic

Deeah syndrome

Criteria Provided
Single Submitter

CA380318559

rs_2541472333

1 SubmittersRCV003990529

NM_001376571.1(MADD):c.1967A>G (p.Asn656Ser)

SNV
Germline

Chr11:47284375

Likely pathogenic

Deeah syndrome

Criteria Provided
Single Submitter

CA380335133

rs_2543164636

1 SubmittersRCV003990548

NM_022552.5(DNMT3A):c.2598-1G>C

SNV
Germline

Chr2:25234421

Likely pathogenic

Tatton-Brown-Rahman overgrowth syndrome

Criteria Provided
Single Submitter

CA1555503

rs_766506181

1 SubmittersRCV003990738

NM_000251.3(MSH2):c.258A>T (p.Glu86Asp)

SNV
Germline

Chr2:47408447

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346729547

rs_1573436461

2 SubmittersRCV004014528 RCV004636885

NM_000179.3(MSH6):c.3646G>T (p.Gly1216Ter)

SNV
Germline

Chr2:47805707

Pathogenic/Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA346760637

rs_1114167690

2 SubmittersRCV004015081 RCV005403394

NM_000251.3(MSH2):c.1864C>T (p.Pro622Ser)

SNV
Germline

Chr2:47475129

Conflicting classifications of pathogenicity

Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346728463

rs_63750280

2 SubmittersRCV004012423 RCV004819255

NM_000535.7(PMS2):c.1238A>G (p.Lys413Arg)

SNV
Germline

Chr7:5987527

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA366742503

rs_1445088475

2 SubmittersRCV004017043 RCV004943294

NM_000179.3(MSH6):c.1942A>G (p.Ser648Gly)

SNV
Germline

Chr2:47799925

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA46709970

rs_965228819

2 SubmittersRCV005103309 RCV004015304

NM_000249.4(MLH1):c.885-1G>T

SNV
Germline

Chr3:37020309

Likely pathogenic

Lynch syndrome

Criteria Provided
Single Submitter

CA352048330

rs_1553647894

1 SubmittersRCV004018076

NM_000535.7(PMS2):c.338C>A (p.Ser113Ter)

SNV
Germline

Chr7:6003705

Pathogenic

Lynch syndrome

Criteria Provided
Single Submitter

CA366744552

rs_1785365441

1 SubmittersRCV004018331

NM_000535.7(PMS2):c.164-2A>C

SNV
Germline

Chr7:6004060

Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366744938

rs_587779324

2 SubmittersRCV004943302 RCV004440117

NM_022552.5(DNMT3A):c.2105A>G (p.Asp702Gly)

SNV
Germline

Chr2:25240708

Likely pathogenic

Tatton-Brown-Rahman overgrowth syndrome

Criteria Provided
Single Submitter

CA346070751

rs_1400330086

1 SubmittersRCV004515751

NM_000179.3(MSH6):c.992C>G (p.Ser331Ter)

SNV
Germline

Chr2:47798975

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346741118

rs_1669281225

2 SubmittersRCV004520747 RCV005422481

NM_000535.7(PMS2):c.1929G>C (p.Gln643His)

SNV
Germline

Chr7:5986836

Conflicting classifications of pathogenicity

Lynch syndrome 4
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA366739206

rs_786203379

2 SubmittersRCV005426338 RCV004518708

NM_014159.7(SETD2):c.2848C>T (p.Arg950Cys)

SNV
Germline

Chr3:47121788

Conflicting classifications of pathogenicity

Condition: not provided
Luscan-Lumish syndrome

Criteria Provided
Conflicting Classifications

rs_372092336

2 SubmittersRCV004575370 RCV005100909

NM_000179.3(MSH6):c.1531A>G (p.Arg511Gly)

SNV
Germline

Chr2:47799514

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Endometrial carcinoma
Lynch syndrome 5
Mismatch repair cancer syndrome 3

Criteria Provided
Conflicting Classifications

rs_773303940

3 SubmittersRCV005100912 RCV004576256 RCV004796871

NM_000251.3(MSH2):c.46G>T (p.Glu16Ter)

SNV
Germline

Chr2:47403237

Conflicting classifications of pathogenicity

Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

rs_2465579125

2 SubmittersRCV004589204 RCV005102036

NM_022552.5(DNMT3A):c.1669T>C (p.Cys557Arg)

SNV
Germline

Chr2:25244337

Likely pathogenic

Tatton-Brown-Rahman overgrowth syndrome

Criteria Provided
Single Submitter

rs_760791871

1 SubmittersRCV004595165

NC_012920.1(MT-ND1):m.3457G>A

SNV
Germline

ChrMT:3457

Pathogenic

Leigh syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005000561

NM_022552.5(DNMT3A):c.2409-2A>T

SNV
Germline

Chr2:25237007

Pathogenic

Tatton-Brown-Rahman overgrowth syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004596031

NM_000540.3(RYR1):c.13913G>T (p.Gly4638Val)

SNV
Germline

Chr19:38572185

Likely pathogenic

King Denborough syndrome

No Assertion Criteria Provided

1 SubmittersRCV004767619

NM_006218.4(PIK3CA):c.115G>A (p.Glu39Lys)

SNV
Somatic

Chr3:179198940

Likely pathogenic

Neoplasm
PIK3CA related overgrowth syndrome

Criteria Provided
Single Submitter

2 SubmittersRCV004666649 RCV005251386

NM_000179.3(MSH6):c.261-2A>C

SNV
Germline

Chr2:47790925

Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004654498 RCV004787149

NM_000251.3(MSH2):c.1386+4T>A

SNV
Germline

Chr2:47445661

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004654417 RCV005249711

NM_003172.4(SURF1):c.530T>G (p.Val177Gly)

SNV
Germline

Chr9:133352752

Likely pathogenic

Leigh syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004690690

NM_078470.6(COX15):c.597G>A (p.Trp199Ter)

SNV
Germline

Chr10:99724109

Pathogenic/Likely pathogenic

Leigh syndrome
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004699825 RCV005023647

NM_001376571.1(MADD):c.2591C>A (p.Ser864Ter)

SNV
Germline

Chr11:47286472

Likely pathogenic

MADD-related disorder
Deeah syndrome

Criteria Provided
Single Submitter

2 SubmittersRCV004736714 RCV004784217

NM_000179.3(MSH6):c.3647-2A>G

SNV
Germline

Chr2:47806202

Likely pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

1 SubmittersRCV004759490

NM_002577.4(PAK2):c.836A>C (p.Gln279Pro)

SNV
Germline

Chr3:196812752

Likely pathogenic

Knobloch syndrome 2

Criteria Provided
Single Submitter

1 SubmittersRCV004765108

NM_024120.5(NDUFAF5):c.425A>C (p.Glu142Ala)

SNV
Germline

Chr20:13794887

Likely pathogenic

Leigh syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004783321

NM_000251.3(MSH2):c.589A>T (p.Lys197Ter)

SNV
Unknown

Chr2:47410316

Pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV004788961

NM_000377.3(WAS):c.629C>G (p.Ser210Ter)

SNV
Germline

ChrX:48686850

Pathogenic

Thrombocytopenia 1
X-linked severe congenital neutropenia
Wiskott-Aldrich syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004797539

NM_000540.3(RYR1):c.13667T>C (p.Leu4556Pro)

SNV
Germline

Chr19:38570614

Likely pathogenic

Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1
Central core myopathy
King Denborough syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004795613

NM_022552.5(DNMT3A):c.2408+2T>C

SNV
Germline

Chr2:25239128

Likely pathogenic

Tatton-Brown-Rahman overgrowth syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004798996

NM_000179.3(MSH6):c.1624C>G (p.Leu542Val)

SNV
Germline

Chr2:47799607

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004806826 RCV005363368

NM_000179.3(MSH6):c.3025A>G (p.Lys1009Glu)

SNV
Germline

Chr2:47801008

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004806833 RCV005105206

NM_000535.7(PMS2):c.1077G>A (p.Leu359=)

SNV
Germline

Chr7:5989867

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Condition: not provided

Criteria Provided
Conflicting Classifications

3 SubmittersRCV004946246 RCV005426379 RCV005000594

NM_015272.5(RPGRIP1L):c.3701+1G>A

SNV
Germline

Chr16:53610966

Likely pathogenic

Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3

Criteria Provided
Single Submitter

1 SubmittersRCV005009823

NM_015272.5(RPGRIP1L):c.3217G>T (p.Glu1073Ter)

SNV
Germline

Chr16:53637698

Likely pathogenic

Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3

Criteria Provided
Single Submitter

1 SubmittersRCV005009830

NM_015272.5(RPGRIP1L):c.2896C>T (p.Gln966Ter)

SNV
Germline

Chr16:53641095

Likely pathogenic

Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3

Criteria Provided
Single Submitter

1 SubmittersRCV005009833

NM_015272.5(RPGRIP1L):c.2305-2A>G

SNV
Germline

Chr16:53646005

Likely pathogenic

Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3

Criteria Provided
Single Submitter

1 SubmittersRCV005009839

NM_015272.5(RPGRIP1L):c.2179G>A (p.Gly727Ser)

SNV
Germline

Chr16:53649089

Likely pathogenic

Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3

Criteria Provided
Single Submitter

1 SubmittersRCV005009840

NM_015272.5(RPGRIP1L):c.2152+1G>A

SNV
Germline

Chr16:53652534

Likely pathogenic

Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3
Joubert syndrome

Criteria Provided
Single Submitter

2 SubmittersRCV005009843 RCV005610761

NM_015272.5(RPGRIP1L):c.1405C>T (p.Gln469Ter)

SNV
Germline

Chr16:53657629

Likely pathogenic

Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3

Criteria Provided
Single Submitter

1 SubmittersRCV005009854

NM_015272.5(RPGRIP1L):c.1264C>T (p.Gln422Ter)

SNV
Germline

Chr16:53658858

Likely pathogenic

Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3

Criteria Provided
Single Submitter

1 SubmittersRCV005009856

NM_015272.5(RPGRIP1L):c.1229T>G (p.Leu410Ter)

SNV
Germline

Chr16:53664884

Likely pathogenic

Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3

Criteria Provided
Single Submitter

1 SubmittersRCV005015584

NM_015272.5(RPGRIP1L):c.882+1G>T

SNV
Germline

Chr16:53675016

Likely pathogenic

Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3

Criteria Provided
Single Submitter

1 SubmittersRCV005015588

NM_015272.5(RPGRIP1L):c.188T>G (p.Leu63Ter)

SNV
Germline

Chr16:53696193

Likely pathogenic

Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3

Criteria Provided
Single Submitter

1 SubmittersRCV005015603

NM_000540.3(RYR1):c.718C>T (p.Gln240Ter)

SNV
Germline

Chr19:38446558

Pathogenic

King Denborough syndrome
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia

Criteria Provided
Single Submitter

1 SubmittersRCV005022987

NM_000540.3(RYR1):c.3382-1G>A

SNV
Germline

Chr19:38468965

Likely pathogenic

King Denborough syndrome
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia

Criteria Provided
Single Submitter

1 SubmittersRCV005022989

NM_000540.3(RYR1):c.9625C>T (p.Gln3209Ter)

SNV
Germline

Chr19:38516157

Likely pathogenic

King Denborough syndrome
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia

Criteria Provided
Single Submitter

1 SubmittersRCV005022991

NM_000540.3(RYR1):c.10828G>T (p.Glu3610Ter)

SNV
Germline

Chr19:38528309

Likely pathogenic

King Denborough syndrome
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia

Criteria Provided
Single Submitter

1 SubmittersRCV005022992

NM_001378615.1(CC2D2A):c.2339-1G>A

SNV
Germline

Chr4:15553157

Likely pathogenic

COACH syndrome 2
Meckel syndrome, type 6
Joubert syndrome 9
Retinitis pigmentosa 93

Criteria Provided
Single Submitter

1 SubmittersRCV005027280

NM_001378615.1(CC2D2A):c.2686G>T (p.Glu896Ter)

SNV
Germline

Chr4:15557364

Likely pathogenic

COACH syndrome 2
Retinitis pigmentosa 93
Meckel syndrome, type 6
Joubert syndrome 9

Criteria Provided
Single Submitter

1 SubmittersRCV005039003

NM_001378615.1(CC2D2A):c.3784G>T (p.Glu1262Ter)

SNV
Germline

Chr4:15579980

Likely pathogenic

COACH syndrome 2
Retinitis pigmentosa 93
Meckel syndrome, type 6
Joubert syndrome 9

Criteria Provided
Single Submitter

1 SubmittersRCV005039012

NM_001378615.1(CC2D2A):c.4315-1G>T

SNV
Germline

Chr4:15596084

Likely pathogenic

COACH syndrome 2
Meckel syndrome, type 6
Joubert syndrome 9
Retinitis pigmentosa 93

Criteria Provided
Single Submitter

1 SubmittersRCV005039028

NM_001378615.1(CC2D2A):c.979C>T (p.Gln327Ter)

SNV
Germline

Chr4:15515966

Likely pathogenic

COACH syndrome 2
Retinitis pigmentosa 93
Meckel syndrome, type 6
Joubert syndrome 9

Criteria Provided
Single Submitter

1 SubmittersRCV005037496

NM_001378615.1(CC2D2A):c.1359+1G>A

SNV
Germline

Chr4:15527657

Likely pathogenic

COACH syndrome 2
Meckel syndrome, type 6
Joubert syndrome 9
Retinitis pigmentosa 93

Criteria Provided
Single Submitter

1 SubmittersRCV005027212

NM_001378615.1(CC2D2A):c.1363C>T (p.Gln455Ter)

SNV
Germline

Chr4:15528623

Likely pathogenic

COACH syndrome 2
Retinitis pigmentosa 93
Meckel syndrome, type 6
Joubert syndrome 9

Criteria Provided
Single Submitter

1 SubmittersRCV005027213

NM_001378615.1(CC2D2A):c.1705C>T (p.Gln569Ter)

SNV
Germline

Chr4:15537017

Likely pathogenic

COACH syndrome 2
Retinitis pigmentosa 93
Meckel syndrome, type 6
Joubert syndrome 9

Criteria Provided
Single Submitter

1 SubmittersRCV005027220

NM_001378615.1(CC2D2A):c.1938G>A (p.Trp646Ter)

SNV
Germline

Chr4:15538072

Likely pathogenic

COACH syndrome 2
Retinitis pigmentosa 93
Meckel syndrome, type 6
Joubert syndrome 9

Criteria Provided
Single Submitter

1 SubmittersRCV005027226

NM_000377.3(WAS):c.691A>T (p.Lys231Ter)

SNV
Germline

ChrX:48686912

Pathogenic

Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia
Thrombocytopenia 1

Criteria Provided
Single Submitter

1 SubmittersRCV005041824

NM_000377.3(WAS):c.913C>T (p.Gln305Ter)

SNV
Germline

ChrX:48688435

Pathogenic

Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia
Thrombocytopenia 1

Criteria Provided
Single Submitter

1 SubmittersRCV005041825

NM_000179.3(MSH6):c.411C>T (p.Ser137=)

SNV
Unknown

Chr2:47791077

Conflicting classifications of pathogenicity

Condition: not provided
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004997795 RCV005426403

NM_022552.5(DNMT3A):c.742C>T (p.Gln248Ter)

SNV
Germline

Chr2:25248150

Pathogenic

Tatton-Brown-Rahman overgrowth syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005065422

NM_022552.5(DNMT3A):c.1227G>A (p.Trp409Ter)

SNV
Germline

Chr2:25246672

Pathogenic

Tatton-Brown-Rahman overgrowth syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005066576

NM_018344.6(SLC29A3):c.1+1G>C

SNV
Germline

Chr10:71319311

Likely pathogenic

H syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005118062

NM_014159.7(SETD2):c.6148C>T (p.Gln2050Ter)

SNV
Germline

Chr3:47062308

Pathogenic

Luscan-Lumish syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005136226

NM_022552.5(DNMT3A):c.2384G>A (p.Trp795Ter)

SNV
Germline

Chr2:25239154

Pathogenic

Tatton-Brown-Rahman overgrowth syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005149035

NM_001375834.1(WIPF1):c.373C>T (p.Arg125Ter)

SNV
Germline

Chr2:174572432

Pathogenic

Wiskott-Aldrich syndrome 2

Criteria Provided
Single Submitter

1 SubmittersRCV005173343

NM_018344.6(SLC29A3):c.301-2A>G

SNV
Germline

Chr10:71344207

Likely pathogenic

H syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005177936

NM_014159.7(SETD2):c.7006A>G (p.Ile2336Val)

SNV
Germline

Chr3:47046579

Conflicting classifications of pathogenicity

Luscan-Lumish syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005169728 RCV005485744

NM_003172.4(SURF1):c.55-2A>G

SNV
Germline

Chr9:133356322

Likely pathogenic

Leigh syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005170511

NM_022552.5(DNMT3A):c.2093G>A (p.Trp698Ter)

SNV
Germline

Chr2:25240720

Pathogenic

Tatton-Brown-Rahman overgrowth syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005166516

NM_022552.5(DNMT3A):c.2172C>T (p.Tyr724=)

SNV
Germline

Chr2:25240641

Conflicting classifications of pathogenicity

Tatton-Brown-Rahman overgrowth syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005180208 RCV005326037

NM_022552.5(DNMT3A):c.1066C>T (p.Gln356Ter)

SNV
Germline

Chr2:25247107

Pathogenic

Tatton-Brown-Rahman overgrowth syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005189269

NM_003172.4(SURF1):c.837T>G (p.Tyr279Ter)

SNV
Germline

Chr9:133351979

Pathogenic

Leigh syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005199465

NM_000377.3(WAS):c.454C>T (p.Gln152Ter)

SNV
Germline

ChrX:48685827

Pathogenic

Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia
Thrombocytopenia 1

Criteria Provided
Single Submitter

1 SubmittersRCV005211168

NM_000377.3(WAS):c.931+1G>C

SNV
Germline

ChrX:48688454

Pathogenic

Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia
Thrombocytopenia 1

Criteria Provided
Single Submitter

1 SubmittersRCV005211169

NM_024426.6(WT1):c.888-2A>G

SNV
Germline

Chr11:32417656

Likely pathogenic

Wilms tumor 1
11p partial monosomy syndrome
Frasier syndrome
Drash syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005217935

NM_000377.3(WAS):c.1390G>T (p.Glu464Ter)

SNV
Germline

ChrX:48689371

Pathogenic

Thrombocytopenia 1
Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia

Criteria Provided
Single Submitter

1 SubmittersRCV005223690

NM_000377.3(WAS):c.506-1G>C

SNV
Germline

ChrX:48686080

Likely pathogenic

Thrombocytopenia 1
Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia

Criteria Provided
Single Submitter

1 SubmittersRCV005215184

NM_000377.3(WAS):c.209G>T (p.Gly70Val)

SNV
Germline

ChrX:48684359

Likely pathogenic

Thrombocytopenia 1
Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia

Criteria Provided
Single Submitter

1 SubmittersRCV005213164

NM_024426.6(WT1):c.1324C>A (p.Gln442Lys)

SNV
Germline

Chr11:32392696

Pathogenic

Wilms tumor 1
Frasier syndrome
Drash syndrome
11p partial monosomy syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005221241

NM_000377.3(WAS):c.931+1G>A

SNV
Germline

ChrX:48688454

Pathogenic

Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia
Thrombocytopenia 1

Criteria Provided
Single Submitter

1 SubmittersRCV005233163

NM_000179.3(MSH6):c.3438+2T>A

SNV
Unknown

Chr2:47803687

Likely pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

1 SubmittersRCV005246213

NM_000179.3(MSH6):c.796A>T (p.Lys266Ter)

SNV
Unknown

Chr2:47798779

Pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

1 SubmittersRCV005247775

NM_006218.4(PIK3CA):c.1037T>G (p.Val346Gly)

SNV
Somatic

Chr3:179203767

Likely pathogenic

PIK3CA related overgrowth syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005251517

NM_001376571.1(MADD):c.4821G>A (p.Val1607=)

SNV
Germline

Chr11:47328677

Likely pathogenic

Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia
Deeah syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005362093

NM_000179.3(MSH6):c.2560A>T (p.Lys854Ter)

SNV
Germline

Chr2:47800543

Pathogenic

Lynch syndrome 5
Endometrial carcinoma

Criteria Provided
Single Submitter

1 SubmittersRCV005362188

NM_000179.3(MSH6):c.3559G>T (p.Glu1187Ter)

SNV
Germline

Chr2:47805620

Pathogenic

Lynch syndrome 5
Endometrial carcinoma

Criteria Provided
Single Submitter

1 SubmittersRCV005362194

NM_000535.7(PMS2):c.1421C>T (p.Ala474Val)

SNV
Germline

Chr7:5987344

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005393023 RCV005356662

NM_153704.6(TMEM67):c.2242-2A>T

SNV
Germline

Chr8:93803602

Likely pathogenic

COACH syndrome 1
RHYNS syndrome
Joubert syndrome 6
Nephronophthisis 11

Criteria Provided
Single Submitter

1 SubmittersRCV005367852

NM_000377.3(WAS):c.331A>C (p.Thr111Pro)

SNV
Germline

ChrX:48685604

Likely pathogenic

Wiskott-Aldrich syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005408119

NM_000377.3(WAS):c.343C>T (p.His115Tyr)

SNV
Germline

ChrX:48685616

Likely pathogenic

Wiskott-Aldrich syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005408145

NM_022552.5(DNMT3A):c.1988C>A (p.Ser663Ter)

SNV
Germline

Chr2:25241656

Likely pathogenic

Tatton-Brown-Rahman overgrowth syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005411211

NM_000179.3(MSH6):c.2900T>A (p.Ile967Lys)

SNV
Unknown

Chr2:47800883

Likely pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

1 SubmittersRCV005427692

NM_024426.6(WT1):c.1282T>C (p.Cys428Arg)

SNV
Germline

Chr11:32392738

Pathogenic

Drash syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005432218

NM_022552.5(DNMT3A):c.980G>A (p.Trp327Ter)

SNV
Germline

Chr2:25247625

Pathogenic

Tatton-Brown-Rahman overgrowth syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005603981

NM_000179.3(MSH6):c.3086T>A (p.Leu1029Ter)

SNV
Unknown

Chr2:47801069

Pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

1 SubmittersRCV005621735

NM_006941.4(SOX10):c.1114C>T (p.Gln372Ter)

SNV
Germline

Chr22:37973782

Pathogenic

PCWH syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005625052