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 1 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	4 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	4 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.3364C>T (p.Pro1122Ser)	SNV Germline	Chr4:15567752	Conflicting classifications of pathogenicity	Joubert syndrome 9 Condition: not provided COACH syndrome 1 Meckel-Gruber syndrome Familial aplasia of the vermis	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 CC2D2A-related disorder Familial aplasia of the vermis Meckel-Gruber syndrome	Criteria Provided Multiple Submitters No Conflicts	CA114471	rs_118204052	7 SubmittersRCV000000780 RCV000445290 RCV001269034 RCV003234885 RCV004532267 RCV003764503
NM_001378615.1(CC2D2A):c.3145C>T (p.Arg1049Ter)	SNV Germline	Chr4:15563485	Pathogenic	COACH syndrome 2 Joubert syndrome 9/15, digenic Familial aplasia of the vermis Meckel-Gruber syndrome Condition: not provided See cases Retinitis pigmentosa 93 COACH syndrome 2 Joubert syndrome 9 Meckel syndrome, type 6	Criteria Provided Multiple Submitters No Conflicts	CA129544	rs_386833750	6 SubmittersRCV000000783 RCV000023922 RCV000199602 RCV000578695 RCV002251848 RCV002476904
NM_001378615.1(CC2D2A):c.3347C>T (p.Thr1116Met)	SNV Germline	Chr4:15567735	Conflicting classifications of pathogenicity	COACH syndrome 2 Joubert syndrome 9 Condition: not provided Familial aplasia of the vermis Meckel-Gruber syndrome	Criteria Provided Conflicting Classifications	CA210343	rs_267606709	5 SubmittersRCV000000784 RCV000201781 RCV000729670 RCV001383566
NM_015141.4(GPD1L):c.370A>G (p.Ile124Val)	SNV Germline	Chr3:32140231	Conflicting classifications of pathogenicity	Brugada syndrome 2 Long QT syndrome Primary familial hypertrophic cardiomyopathy Condition: not provided SUDDEN INFANT DEATH SYNDROME Cardiovascular phenotype not specified Hypertrophic cardiomyopathy Brugada syndrome GPD1L-related disorder	Criteria Provided Conflicting Classifications	CA213881	rs_72552293	18 SubmittersRCV000000824 RCV000157243 RCV000203752 RCV000029945 RCV000620285 RCV000170920 RCV000852958 RCV001081825 RCV003952333
NM_015272.5(RPGRIP1L):c.1843A>C (p.Thr615Pro)	SNV Germline	Chr16:53652844	Pathogenic	Joubert syndrome 7 Condition: not provided Familial aplasia of the vermis Meckel-Gruber syndrome Familial aplasia of the vermis Joubert syndrome and related disorders RPGRIP1L-related disorder Joubert syndrome 7 COACH syndrome 3 Meckel syndrome, type 5	Criteria Provided Multiple Submitters No Conflicts	CA251689	rs_121918198	8 SubmittersRCV000001124 RCV000393725 RCV000689745 RCV001271279 RCV003155007 RCV004528062 RCV002482812
NM_015272.5(RPGRIP1L):c.2614C>T (p.Gln872Ter)	SNV Germline	Chr16:53645694	Conflicting classifications of pathogenicity	Meckel syndrome, type 5 Joubert syndrome 7 COACH syndrome 1 Meckel syndrome, type 5 RPGRIP1L-related disorder Condition: not provided Familial aplasia of the vermis Meckel-Gruber syndrome Familial aplasia of the vermis Meckel-Gruber syndrome	Criteria Provided Conflicting Classifications	CA130771	rs_121918203	8 SubmittersRCV000033207 RCV000762961 RCV000779628 RCV000790748 RCV001059320 RCV001831501 RCV004017218
NM_015272.5(RPGRIP1L):c.2050C>T (p.Gln684Ter)	SNV Germline	Chr16:53652637	Pathogenic/Likely pathogenic	Joubert syndrome 7 Meckel-Gruber syndrome Familial aplasia of the vermis Condition: not provided Meckel syndrome, type 5 Joubert syndrome 7 COACH syndrome 1 Familial aplasia of the vermis Abnormality of prenatal development or birth	Criteria Provided Multiple Submitters No Conflicts	CA251696	rs_121918204	10 SubmittersRCV000001131 RCV000824619 RCV001781157 RCV000762962 RCV001271277 RCV001813927
NM_015272.5(RPGRIP1L):c.2413C>T (p.Arg805Ter)	SNV Germline	Chr16:53645895	Pathogenic	COACH syndrome 3 Joubert syndrome 7 Condition: not provided Familial aplasia of the vermis Meckel-Gruber syndrome Familial aplasia of the vermis Joubert syndrome 7 COACH syndrome 3 Meckel syndrome, type 5	Criteria Provided Multiple Submitters No Conflicts	CA210648	rs_145665129	6 SubmittersRCV000001134 RCV000201645 RCV000733537 RCV001382825 RCV001831502 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	Joubert syndrome 6 COACH syndrome 1 Familial aplasia of the vermis Meckel-Gruber syndrome	Criteria Provided Multiple Submitters No Conflicts	CA210653	rs_137853107	3 SubmittersRCV000001436 RCV000001437 RCV001851544
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 syndrome, type 3 Nephronophthisis 11 Familial aplasia of the vermis Meckel-Gruber syndrome COACH syndrome 1 not specified TMEM67-related disorder	Criteria Provided Conflicting Classifications	CA114968	rs_111619594	14 SubmittersRCV000001444 RCV000234830 RCV000725926 RCV001158404 RCV001198570 RCV001158405 RCV001158406 RCV001085857 RCV001333012 RCV003488318 RCV004528064
NM_153704.6(TMEM67):c.2498T>C (p.Ile833Thr)	SNV Germline	Chr8:93808898	Pathogenic/Likely pathogenic	COACH syndrome 1 Joubert syndrome 6 Familial aplasia of the vermis Meckel-Gruber syndrome Condition: not provided 6 conditions TMEM67-related disorder Meckel syndrome, type 3 Joubert syndrome and related disorders	Criteria Provided Multiple Submitters No Conflicts	CA210657	rs_267607119	11 SubmittersRCV000001445 RCV000001446 RCV000821785 RCV001310635 RCV001536092 RCV003315221 RCV000995902 RCV001804708
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 Familial aplasia of the vermis Meckel-Gruber 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	COACH syndrome 1 Joubert syndrome 6 Condition: not provided Familial aplasia of the vermis Meckel-Gruber syndrome	Criteria Provided Multiple Submitters No Conflicts	CA210661	rs_267607115	7 SubmittersRCV000001449 RCV000201677 RCV001781164 RCV001851546
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 Renal cyst Oligohydramnios Familial aplasia of the vermis Familial aplasia of the vermis Meckel-Gruber syndrome Condition: not provided Inborn genetic diseases 14 conditions Bardet-Biedl syndrome 14 Nephronophthisis 11 Joubert syndrome 6 COACH syndrome 1 Meckel syndrome, type 3 RHYNS syndrome	Criteria Provided Multiple Submitters No Conflicts	CA114977	rs_201893408	14 SubmittersRCV000001452 RCV000001451 RCV000234823 RCV000283682 RCV000415055 RCV000534533 RCV000479077 RCV000623857 RCV000627004 RCV000763610 RCV001197497
NM_174889.5(NDUFAF2):c.139C>T (p.Arg47Ter)	SNV Germline	Chr5:61073136	Pathogenic/Likely pathogenic	Mitochondrial complex 1 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 Hereditary cancer-predisposing syndrome Condition: not provided Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Carcinoma of colon Lynch syndrome 1 Mismatch repair cancer syndrome 1 Muir-Torré syndrome Gastric cancer	Reviewed By Expert Panel	CA017519	rs_63751108	25 SubmittersRCV000001825 RCV000162489 RCV000202291 RCV000030238 RCV000524334 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 Condition: not provided Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 1	Reviewed By Expert Panel	CA019344	rs_63750047	8 SubmittersRCV000001828 RCV000076290 RCV000428558 RCV000491732 RCV000809096 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 Lynch syndrome 1 Mismatch repair cancer syndrome 1 Muir-Torré syndrome Hereditary nonpolyposis colorectal neoplasms Carcinoma of colon	Reviewed By Expert Panel	CA019533	rs_63750875	21 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 11p partial monosomy syndrome Frasier syndrome Drash syndrome Condition: not provided Wilms tumor 1 Steroid-resistant nephrotic syndrome Nephrotic range proteinuria Kidney disorder 8 conditions	Criteria Provided Multiple Submitters No Conflicts	CA016324	rs_121907900	13 SubmittersRCV000003656 RCV000003657 RCV000003658 RCV000467701 RCV000484426 RCV001290016 RCV001003819 RCV002293973 RCV002482821
NM_024426.6(WT1):c.1316G>A (p.Arg439His)	SNV Germline	Chr11:32392704	Pathogenic	Drash syndrome Condition: not provided Wilms tumor 1 8 conditions Nephrotic syndrome, type 4 Wilms tumor 1 Frasier syndrome Drash syndrome Nephrotic syndrome, type 4 11p partial monosomy syndrome Wilms tumor 1 Frasier syndrome Drash syndrome	Criteria Provided Multiple Submitters No Conflicts	CA016285	rs_121907901	9 SubmittersRCV000003659 RCV000484493 RCV003147274 RCV002496247 RCV001250546 RCV002243617 RCV001851622
NM_024426.6(WT1):c.1406A>G (p.Asp469Gly)	SNV Germline	Chr11:32392013	Likely pathogenic	Drash syndrome Drash syndrome 11p partial monosomy syndrome Wilms tumor 1 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 8 conditions WT1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA016607	rs_587776576	17 SubmittersRCV000003665 RCV000030876 RCV000208283 RCV000589623 RCV000705142 RCV001290018 RCV001288155 RCV002482822 RCV004547457
NM_024426.6(WT1):c.1387C>T (p.Arg463Ter)	SNV Germline	Chr11:32392032	Pathogenic	Wilms tumor 1 Frasier syndrome Drash syndrome 11p partial monosomy syndrome Wilms tumor 1 Frasier syndrome Condition: not provided Focal segmental glomerulosclerosis 8 conditions	Criteria Provided Multiple Submitters No Conflicts	CA016309	rs_121907909	6 SubmittersRCV000003666 RCV000030877 RCV000471023 RCV000521800 RCV002293974 RCV002504738
NM_024426.6(WT1):c.1348C>T (p.His450Tyr)	SNV Germline	Chr11:32392672	Pathogenic/Likely pathogenic	Drash syndrome Nephrotic syndrome, type 4 Drash syndrome 11p partial monosomy syndrome Wilms tumor 1 Frasier syndrome	Criteria Provided Multiple Submitters No Conflicts	CA016298	rs_28942089	3 SubmittersRCV000003667 RCV000003668 RCV002512715
NM_024426.6(WT1):c.1297T>G (p.Cys433Gly)	SNV Germline	Chr11:32392723	Likely pathogenic	Drash syndrome Drash syndrome 11p partial monosomy syndrome Wilms tumor 1 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 Drash syndrome 11p partial monosomy syndrome Wilms tumor 1 Frasier syndrome 8 conditions Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA016273	rs_121907906	5 SubmittersRCV000003670 RCV000003671 RCV000685465 RCV000762840 RCV001565696
NM_024426.6(WT1):c.1338C>G (p.His446Gln)	SNV Germline	Chr11:32392682	Pathogenic	Drash syndrome	No Assertion Criteria Provided	CA016292	rs_121907907	1 SubmittersRCV000003672
NM_024426.6(WT1):c.1447+4C>T	SNV Germline	Chr11:32391968	Pathogenic/Likely pathogenic	Nephrotic syndrome, type 4 Frasier syndrome Familial idiopathic steroid-resistant nephrotic syndrome Condition: not provided Drash syndrome Wilms tumor 1 11p partial monosomy syndrome Frasier syndrome Wilms tumor 1 Nephrotic range proteinuria WT1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA016600	rs_587776577	14 SubmittersRCV000003675 RCV000003674 RCV000157584 RCV000489749 RCV001216104 RCV001290017 RCV001003818 RCV004547458
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 Leigh syndrome GRACILE syndrome Pili torti-deafness syndrome Pili torti-deafness syndrome	Criteria Provided Multiple Submitters No Conflicts	CA118015	rs_121908576	18 SubmittersRCV000006544 RCV000195481 RCV000260660 RCV000576565 RCV000763069 RCV003472989
NM_001079866.2(BCS1L):c.548G>A (p.Arg183His)	SNV Germline	Chr2:218661846	Pathogenic	Pili torti-deafness syndrome Leigh syndrome GRACILE syndrome Mitochondrial complex III deficiency nuclear type 1 GRACILE syndrome Pili torti-deafness syndrome Mitochondrial complex III deficiency nuclear type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA118021	rs_121908577	7 SubmittersRCV000006545 RCV000779835 RCV001835622 RCV002243624 RCV002476937 RCV002512833
NM_002495.4(NDUFS4):c.316C>T (p.Arg106Ter)	SNV Germline	Chr5:53646371	Pathogenic	Mitochondrial complex I deficiency Mitochondrial complex I deficiency, nuclear type 1 Condition: not provided Leigh syndrome	Criteria Provided Multiple Submitters No Conflicts	CA118548	rs_104893898	8 SubmittersRCV000578296 RCV000735424 RCV002298437 RCV002307359
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	No Assertion Criteria Provided	CA118762	rs_74315518	1 SubmittersRCV000007823
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 1 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 1 deficiency, nuclear type 3 Condition: not provided Leigh syndrome	Criteria Provided Multiple Submitters No Conflicts	CA118993	rs_104894705	10 SubmittersRCV000008120 RCV000197296 RCV003155020
NM_024407.5(NDUFS7):c.17-1167C>G	SNV Germline	Chr19:1386644	Likely pathogenic	Mitochondrial complex 1 deficiency, nuclear type 3 Leigh syndrome	Criteria Provided Single Submitter		rs_1568985256	2 SubmittersRCV000008122 RCV002265550
NM_004168.4(SDHA):c.1660C>T (p.Arg554Trp)	SNV Germline	Chr5:251100	Conflicting classifications of pathogenicity	Mitochondrial complex II deficiency, nuclear type 1 Paragangliomas 5 Mitochondrial complex II deficiency, nuclear type 1 Leigh syndrome Hereditary cancer-predisposing syndrome Condition: not provided Diffuse midline glioma, H3 K27-altered Dilated cardiomyopathy 1GG	Criteria Provided Conflicting Classifications	CA119879	rs_9809219	8 SubmittersRCV000009281 RCV000456631 RCV000790927 RCV000573113 RCV001818148 RCV003315222 RCV003473060
NM_000535.7(PMS2):c.400C>T (p.Arg134Ter)	SNV Germline	Chr7:6002590	Pathogenic	Lynch syndrome Mismatch repair cancer syndrome 4 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Condition: not provided Lynch syndrome 4 Mismatch repair cancer syndrome 1 Lynch syndrome 1 Gastric cancer	Reviewed By Expert Panel	CA012083	rs_63750871	19 SubmittersRCV000076872 RCV000009815 RCV000115695 RCV000524474 RCV000212842 RCV000576870 RCV001196700 RCV001310204 RCV003162222
NM_000535.7(PMS2):c.2404C>T (p.Arg802Ter)	SNV Germline	Chr7:5977629	Pathogenic	Mismatch repair cancer syndrome 1 Hereditary cancer-predisposing syndrome Lynch syndrome Condition: not provided Lynch syndrome 4 Hereditary nonpolyposis colorectal neoplasms Mismatch repair cancer syndrome 4 Hereditary nonpolyposis colon cancer Rhabdomyosarcoma PMS2-related disorder	Reviewed By Expert Panel	CA011441	rs_63751466	15 SubmittersRCV000009818 RCV000129304 RCV000076858 RCV000413126 RCV000409056 RCV000524467 RCV001267876 RCV002265552 RCV001257544 RCV003415681
NM_000535.7(PMS2):c.1882C>T (p.Arg628Ter)	SNV Germline	Chr7:5986883	Pathogenic	Lynch syndrome 4 Lynch syndrome Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Hereditary nonpolyposis colon cancer	Reviewed By Expert Panel	CA010399	rs_63750451	16 SubmittersRCV000009823 RCV000076834 RCV000218575 RCV000220439 RCV000524451 RCV001193819
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile)	SNV Germline	Chr7:6005918	Likely pathogenic	Mismatch repair cancer syndrome 1 Lynch syndrome 4 Lynch syndrome Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Pituitary carcinoma Mismatch repair cancer syndrome 4 Breast and/or ovarian cancer Endometrial carcinoma Mismatch repair cancer syndrome 4 Lynch syndrome 4 Lynch syndrome 1 PMS2-related cancer disorders Dilated cardiomyopathy 1G Hypertrophic cardiomyopathy 9 PMS2-related disorder	Reviewed By Expert Panel	CA009597	rs_121434629	43 SubmittersRCV000009826 RCV000056324 RCV000076807 RCV000115657 RCV000200994 RCV000524432 RCV000722017 RCV001267878 RCV001797999 RCV001353458 RCV002476951 RCV001804723 RCV003335023 RCV004555831 RCV003390667
NM_000335.5(SCN5A):c.3305C>A (p.Ser1102Tyr)	SNV Germline	Chr3:38579416	Conflicting classifications of pathogenicity	SUDDEN INFANT DEATH SYNDROME Long QT syndrome 3, acquired, susceptibility to not specified Condition: not provided Brugada syndrome Congenital long QT syndrome Dilated cardiomyopathy 1E Progressive familial heart block, type 1A Cardiovascular phenotype Ventricular fibrillation, paroxysmal familial, type 1 Sick sinus syndrome 1 Long QT syndrome 3 Cardiac arrhythmia Brugada syndrome 1 8 conditions Primary dilated cardiomyopathy Cardiomyopathy	Criteria Provided Conflicting Classifications	CA017028	rs_7626962	21 SubmittersRCV000009993 RCV000009992 RCV000041615 RCV000058563 RCV000204216 RCV000363449 RCV000274325 RCV000304064 RCV000621429 RCV000368908 RCV000396768 RCV000755696 RCV001841239 RCV001094834 RCV002504776 RCV003125829 RCV003149567
NC_012920.1(MT-ND1):m.1624C>T	SNV Germline	ChrMT:1624	Pathogenic/Likely pathogenic	Leigh syndrome Juvenile myopathy, encephalopathy, lactic acidosis AND stroke LEIGH SYNDROME, MITOCHONDRIAL	Criteria Provided Multiple Submitters No Conflicts	CA120537	rs_199476144	4 SubmittersRCV000010158 RCV000850667 RCV004554592
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 Juvenile myopathy, encephalopathy, lactic acidosis AND stroke MT-TK-related mitochondrial disorder MT-TK-related disorder	Reviewed By Expert Panel	CA254836	rs_118192098	13 SubmittersRCV000010193 RCV000010192 RCV000010194 RCV000224965 RCV000495310 RCV000850950 RCV001729345 RCV003492290
NC_012920.1(MT-TK):m.8363G>A	SNV Germline	ChrMT:8363	Likely pathogenic	Cardiomyopathy and Deafness MERRF syndrome Leigh syndrome Juvenile myopathy, encephalopathy, lactic acidosis AND stroke Mitochondrial disease	Reviewed By Expert Panel	CA120555	rs_118192100	5 SubmittersRCV000010197 RCV000192053 RCV000144004 RCV000850961 RCV003162232
NC_012920.1(MT-TL1):m.3243A>G	SNV Germline/somatic	ChrMT:3243	Pathogenic/Likely pathogenic	Age related macular degeneration 2 Mitochondrial complex IV deficiency, nuclear type 1 Muscle stiffness, painful Cyclical vomiting syndrome Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 3-methylglutaconic aciduria type 1 MERRF/MELAS overlap syndrome Diabetes-deafness syndrome maternally transmitted Leigh syndrome Condition: not provided Mitochondrial disease Sensorineural hearing loss disorder Glucose intolerance Short stature Stroke disorder Juvenile myopathy, encephalopathy, lactic acidosis AND stroke MERRF syndrome Charcot-Marie-Tooth disease, axonal, mitochondrial form, 1 not specified See cases Juvenile myopathy, encephalopathy, lactic acidosis AND stroke Leigh Syndrome (mtDNA mutation) Hypertrophic cardiomyopathy Diabetes-deafness syndrome maternally transmitted Auditory neuropathy spectrum disorder Cerebral palsy LEIGH SYNDROME, MITOCHONDRIAL	Criteria Provided Multiple Submitters No Conflicts	CA120560	rs_199474657	29 SubmittersRCV000010209 RCV000010211 RCV000010208 RCV000010210 RCV000010206 RCV000022901 RCV000022902 RCV000032997 RCV000143997 RCV000224855 RCV000495738 RCV000626561 RCV000763623 RCV002250458 RCV002285005 RCV002287327 RCV003325938 RCV003984803 RCV001794441 RCV004554593
NC_012920.1(MT-ATP6):m.8993T>C	SNV Germline	ChrMT:8993	Pathogenic	Leigh syndrome Ataxia and polyneuropathy, adult-onset Mitochondrial complex 5 (ATP synthase) deficiency, mitochondrial type 1 NARP syndrome Mitochondrial disease Condition: not provided Leber optic atrophy	Reviewed By Expert Panel	CA120596	rs_199476133	9 SubmittersRCV000010275 RCV000010276 RCV000754647 RCV000854390 RCV000495030 RCV001268873 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 Maternally-inherited spastic paraplegia Mitochondrial disease LEIGH SYNDROME, MITOCHONDRIAL	Reviewed By Expert Panel	CA120597	rs_199476135	11 SubmittersRCV000010278 RCV000010279 RCV000754652 RCV001027501 RCV001542707 RCV002251425 RCV002260585 RCV004554599
NC_012920.1(MT-ATP6):m.9185T>C	SNV Germline	ChrMT:9185	Pathogenic	Leigh syndrome Charcot-Marie-Tooth disease Mitochondrial disease Condition: not provided Mitochondrial complex 5 (ATP synthase) deficiency, mitochondrial type 1 Charcot-Marie-Tooth disease, type IA Leber optic atrophy Mitochondrial DNA-Associated Leigh Syndrome and NARP	Reviewed By Expert Panel	CA340928	rs_199476138	12 SubmittersRCV000010282 RCV000240612 RCV000495689 RCV001267926 RCV000754648 RCV003224857 RCV001542709 RCV002267606
NC_012920.1(MT-ATP6):m.9176T>G	SNV Germline	ChrMT:9176	Likely pathogenic	Leigh syndrome Leber optic atrophy Mitochondrial complex 5 (ATP synthase) deficiency, mitochondrial type 1 Mitochondrial disease Condition: not provided	Reviewed By Expert Panel	CA340929	rs_199476135	6 SubmittersRCV000010285 RCV001542708 RCV000754649 RCV002221473 RCV001543462
NC_012920.1(MT-CO3):m.9804G>A	SNV Germline	ChrMT:9804	Conflicting classifications of pathogenicity	Leber optic atrophy Condition: not provided Leigh syndrome See cases not specified	Criteria Provided Conflicting Classifications	CA340930	rs_200613617	7 SubmittersRCV000010287 RCV000756352 RCV000854582 RCV001196020 RCV004017233
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	Pathogenic	Mitochondrial encephalomyopathy Leigh syndrome	Criteria Provided Single Submitter	CA120618	rs_207459999	2 SubmittersRCV000010318 RCV000855252
NC_012920.1(MT-ND6):m.14484T>C	SNV Germline	ChrMT:14484	Pathogenic	Leber optic atrophy Leigh syndrome Condition: not provided Mitochondrial disease	Reviewed By Expert Panel	CA340932	rs_199476104	11 SubmittersRCV000010325 RCV000144018 RCV000223709 RCV003162238
NC_012920.1(MT-ND6):m.14459G>A	SNV Germline	ChrMT:14459	Pathogenic	Leber optic atrophy Leber optic atrophy and dystonia Leigh syndrome due to mitochondrial complex I deficiency Leigh syndrome Mitochondrial disease	Reviewed By Expert Panel	CA120625	rs_199476105	7 SubmittersRCV000010327 RCV000010326 RCV000010328 RCV000144019 RCV001796715
NC_012920.1(MT-ND6):m.14453G>A	SNV Germline	ChrMT:14453	Likely pathogenic	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 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 due to mitochondrial complex I deficiency Leigh syndrome Leber optic atrophy Mitochondrial disease	Reviewed By Expert Panel	CA120627	rs_199476109	5 SubmittersRCV000010334 RCV000010333 RCV000144020 RCV002247307 RCV003162239
NC_012920.1(MT-ND5):m.12706T>C	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
m.13045A>C	SNV Germline	ChrMT:13045	Pathogenic	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke Leber optic atrophy Leigh syndrome due to mitochondrial complex I deficiency	No Assertion Criteria Provided	CA120629	rs_267606895	1 SubmittersRCV000010340 RCV000010341 RCV000010342
m.13084A>T	SNV Germline	ChrMT:13084	Pathogenic	Leigh syndrome due to mitochondrial complex I deficiency Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	No Assertion Criteria Provided	CA120631	rs_267606896	2 SubmittersRCV000010343 RCV000010344
NC_012920.1(MT-ND5):m.13513G>A	SNV Germline	ChrMT:13513	Pathogenic	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke Leigh syndrome due to mitochondrial complex I deficiency Leigh syndrome Condition: not provided Mitochondrial disease	Reviewed By Expert Panel	CA120632	rs_267606897	10 SubmittersRCV000010345 RCV000010346 RCV000144016 RCV000224472 RCV000494941
NC_012920.1(MT-ND5):m.13042G>A	SNV Germline	ChrMT:13042	Likely pathogenic	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 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 Leigh syndrome Leber optic atrophy Mitochondrial disease	Reviewed By Expert Panel	CA120636	rs_28384199	4 SubmittersRCV000010357 RCV000144013 RCV000854746 RCV002260594
NC_012920.1(MT-ND3):m.10191T>C	SNV Germline	ChrMT:10191	Pathogenic	Mitochondrial complex 1 deficiency, mitochondrial type 1 Leigh syndrome Mitochondrial complex I deficiency Mitochondrial disease	Reviewed By Expert Panel	CA120637	rs_267606890	5 SubmittersRCV000010358 RCV000144010 RCV001542636 RCV002291212
NC_012920.1(MT-ND3):m.10158T>C	SNV Germline	ChrMT:10158	Pathogenic	Mitochondrial complex 1 deficiency, mitochondrial type 1 Leigh syndrome Condition: not provided Mitochondrial disease	Reviewed By Expert Panel	CA120639	rs_199476117	6 SubmittersRCV000010360 RCV000144009 RCV000224598 RCV001796716
NC_012920.1(MT-ND3):m.10197G>A	SNV Germline	ChrMT:10197	Pathogenic	Mitochondrial complex 1 deficiency, mitochondrial type 1 Leber optic atrophy and dystonia Leigh syndrome Condition: not provided See cases Mitochondrial DNA-Associated Leigh Syndrome and NARP not specified Mitochondrial disease	Reviewed By Expert Panel	CA120640	rs_267606891	9 SubmittersRCV000010362 RCV000010363 RCV000144011 RCV000507278 RCV004017234 RCV002247309 RCV002285008 RCV002291213
NC_012920.1(MT-ND2):m.4681T>C	SNV Germline	ChrMT:4681	Pathogenic	Leigh syndrome due to mitochondrial complex I deficiency Leigh syndrome	No Assertion Criteria Provided	CA120644	rs_267606889	2 SubmittersRCV000010369 RCV000144022
NC_012920.1(MT-ND1):m.3460G>A	SNV Germline	ChrMT:3460	Pathogenic	Leber optic atrophy Leigh syndrome MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 3 Condition: not provided Mitochondrial disease	Reviewed By Expert Panel	CA120646	rs_199476118	8 SubmittersRCV000010370 RCV000143998 RCV000735416 RCV000757484 RCV003319165
NC_012920.1(MT-ND1):m.3394T>C	SNV Germline	ChrMT:3394	Conflicting classifications of pathogenicity	Leber optic atrophy Condition: not provided Leigh syndrome	Criteria Provided Conflicting Classifications	CA340944	rs_41460449	3 SubmittersRCV000010375 RCV000507319 RCV000853650
NC_012920.1(MT-ND1):m.3946G>A	SNV Germline	ChrMT:3946	Pathogenic/Likely pathogenic	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke Leigh syndrome Leber optic atrophy	Criteria Provided Multiple Submitters No Conflicts	CA254862	rs_199476123	6 SubmittersRCV000010387 RCV000853718 RCV001542704
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 Thrombocytopenia 1 X-linked severe congenital neutropenia Wiskott-Aldrich syndrome	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 Wiskott-Aldrich syndrome Condition: not provided Thrombocytopenia 1 X-linked severe congenital neutropenia Wiskott-Aldrich syndrome	Criteria Provided Multiple Submitters No Conflicts	CA255723	rs_132630269	5 SubmittersRCV000011865 RCV002243636 RCV001563489 RCV003764557
NM_000377.3(WAS):c.100C>T (p.Arg34Ter)	SNV Germline	ChrX:48683953	Pathogenic	Wiskott-Aldrich syndrome Wiskott-Aldrich syndrome Thrombocytopenia 1 X-linked severe congenital neutropenia	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 X-linked severe congenital neutropenia Wiskott-Aldrich syndrome Thrombocytopenia 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA255728	rs_132630273	7 SubmittersRCV000011872 RCV000851684 RCV001037597 RCV001172206
NM_000377.3(WAS):c.809T>C (p.Leu270Pro)	SNV Germline	ChrX:48688331	Pathogenic/Likely pathogenic	X-linked severe congenital neutropenia Thrombocytopenia 1 X-linked severe congenital neutropenia Wiskott-Aldrich syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA280988	rs_132630274	3 SubmittersRCV000011874 RCV001851800 RCV001291553
NM_000377.3(WAS):c.560-1G>A	SNV Germline	ChrX:48686780	Pathogenic	Wiskott-Aldrich syndrome	No Assertion Criteria Provided		rs_1602178087	1 SubmittersRCV000011880
NM_000377.3(WAS):c.559+2T>G	SNV Germline	ChrX:48686136	Pathogenic	Wiskott-Aldrich syndrome	No Assertion Criteria Provided		rs_1602177733	1 SubmittersRCV000011881
NM_000363.5(TNNI3):c.575G>A (p.Arg192His)	SNV Germline	Chr19:55151892	Pathogenic	Cardiomyopathy, familial restrictive, 1 Primary familial hypertrophic cardiomyopathy Condition: not provided Restrictive cardiomyopathy Hypertrophic cardiomyopathy Cardiovascular phenotype Hypertrophic cardiomyopathy Restrictive cardiomyopathy Dilated cardiomyopathy 2A SUDDEN INFANT DEATH SYNDROME	Criteria Provided Multiple Submitters No Conflicts	CA021957	rs_104894729	10 SubmittersRCV000013237 RCV000157534 RCV000159242 RCV000154212 RCV000619328 RCV000629012 RCV000852483 RCV003388566 RCV003147282
NM_000363.5(TNNI3):c.433C>T (p.Arg145Trp)	SNV Germline	Chr19:55154146	Pathogenic	Cardiomyopathy, familial restrictive, 1 Condition: not provided Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy Restrictive cardiomyopathy SUDDEN INFANT DEATH SYNDROME Cardiomyopathy TNNI3-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA021667	rs_104894724	18 SubmittersRCV000013239 RCV000159222 RCV000498333 RCV001254730 RCV001787387 RCV001170617 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	Criteria Provided Multiple Submitters No Conflicts	CA122692	rs_121918657	5 SubmittersRCV000013599 RCV000589222 RCV000599426 RCV003314553
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	Malignant hyperthermia, susceptibility to, 1 Condition: not provided RYR1-related disorder Inborn genetic diseases Malignant hyperthermia of anesthesia enflurane response - Toxicity succinylcholine response - Toxicity halothane response - Toxicity isoflurane response - Toxicity methoxyflurane response - Toxicity sevoflurane response - Toxicity desflurane 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	Reviewed By Expert Panel	CA024311	rs_118192172	27 SubmittersRCV000013830 RCV000119586 RCV000538121 RCV000624176 RCV000608635 RCV001787389 RCV001787394 RCV001787390 RCV001787391 RCV001787392 RCV001787393 RCV001787388 RCV002496349
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 desflurane response - Toxicity enflurane response - Toxicity halothane response - Toxicity isoflurane response - Toxicity methoxyflurane response - Toxicity succinylcholine 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	Reviewed By Expert Panel	CA024784	rs_28933397	11 SubmittersRCV000013838 RCV000119711 RCV000614410 RCV000796565 RCV001787731 RCV001787726 RCV001787727 RCV001787728 RCV001787729 RCV001787730 RCV001787732 RCV002490361
NM_000540.3(RYR1):c.6617C>T (p.Thr2206Met)	SNV Germline	Chr19:38496283	Pathogenic	Malignant hyperthermia, susceptibility to, 1 Condition: not provided Ptosis Absence of the sacrum History of neonatal hypotonia Malignant hyperthermia of anesthesia RYR1-related disorder King Denborough syndrome Malignant hyperthermia, susceptibility to	Reviewed By Expert Panel	CA024622	rs_118192177	20 SubmittersRCV000013846 RCV000119662 RCV000162149 RCV000606881 RCV000655558 RCV001729348 RCV004556715
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 King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Central core myopathy Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA024392	rs_118192173	15 SubmittersRCV000013860 RCV000119608 RCV000655512 RCV001199051 RCV002496350 RCV003447473 RCV003996093
NM_000540.3(RYR1):c.7268T>A (p.Met2423Lys)	SNV Germline	Chr19:38499961	Conflicting classifications of pathogenicity	Congenital multicore myopathy with external ophthalmoplegia Lower limb amyotrophy EMG abnormality Clubfoot RYR1-related disorder Condition: not provided Congenital myopathy with fiber type disproportion Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Congenital myopathy with fiber type disproportion King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 1 Neuromuscular disease	Criteria Provided Conflicting Classifications	CA024732	rs_118192174	10 SubmittersRCV000013861 RCV000415169 RCV001851835 RCV000119694 RCV001197410 RCV002504782 RCV003996094 RCV004017243
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg)	SNV Germline/somatic	Chr3:179234297	Pathogenic	Breast adenocarcinoma OVARIAN CANCER, EPITHELIAL, SOMATIC Carcinoma of colon Hepatocellular carcinoma Non-small cell lung carcinoma Seborrheic keratosis CLOVES syndrome Neoplasm of ovary PIK3CA related overgrowth syndrome Malignant melanoma of skin Ovarian serous cystadenocarcinoma Neoplasm of uterine cervix Pancreatic adenocarcinoma Brainstem glioma Squamous cell lung carcinoma Medulloblastoma Lung adenocarcinoma Neoplasm of the large intestine Transitional cell carcinoma of the bladder Uterine carcinosarcoma Adrenal cortex carcinoma Malignant neoplasm of body of uterus Glioblastoma Neoplasm of brain Papillary renal cell carcinoma type 1 Carcinoma of esophagus Breast neoplasm Neoplasm Squamous cell carcinoma of the head and neck Gastric adenocarcinoma Prostate adenocarcinoma Rosette-forming glioneuronal tumor MACRODACTYLY, SOMATIC Condition: not provided Lip and oral cavity carcinoma Abnormal cardiovascular system morphology Congenital macrodactylia Megalencephaly-capillary malformation-polymicrogyria syndrome Segmental undergrowth associated with mainly venous malformation with capillary component Segmental undergrowth associated with lymphatic malformation CEREBRAL CAVERNOUS MALFORMATIONS 4, SOMATIC CLAPO syndrome Cerebrofacial Vascular Metameric Syndrome (CVMS) Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes Breast carcinoma Gastric cancer Klippel-Trenaunay-like-Syndrome Rare venous malformation Rare combined vascular malformation	Reviewed By Expert Panel	CA123326	rs_121913279	27 SubmittersRCV000014622 RCV000014623 RCV000014624 RCV000014626 RCV000014627 RCV000014628 RCV000024621 RCV000154516 RCV000201231 RCV000419938 RCV000432506 RCV000442164 RCV000420562 RCV000426498 RCV000426614 RCV000421855 RCV000422442 RCV000437153 RCV000428372 RCV000425956 RCV000431232 RCV000430589 RCV000442731 RCV000432543 RCV000433127 RCV000437782 RCV000436234 RCV000438435 RCV000437287 RCV000443546 RCV000442736 RCV000487449 RCV000709691 RCV001092442 RCV001255686 RCV001327968 RCV001526648 RCV001807727 RCV001705589 RCV001705590 RCV001728091 RCV001729349 RCV001730472 RCV001836707 RCV003128082 RCV002508124 RCV003325939 RCV004527290 RCV004527291
NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu)	SNV Germline/somatic	Chr3:179234297	Pathogenic	Breast adenocarcinoma CLOVES syndrome PIK3CA related overgrowth syndrome Pancreatic adenocarcinoma Transitional cell carcinoma of the bladder Uterine carcinosarcoma Neoplasm of the large intestine Neoplasm of uterine cervix Breast neoplasm Gastric adenocarcinoma Medulloblastoma Prostate adenocarcinoma Squamous cell lung carcinoma Papillary renal cell carcinoma type 1 Neoplasm of ovary Malignant melanoma of skin Brainstem glioma Malignant neoplasm of body of uterus Neoplasm of brain Ovarian serous cystadenocarcinoma Lung adenocarcinoma Squamous cell carcinoma of the head and neck Hepatocellular carcinoma Carcinoma of esophagus Non-small cell lung carcinoma Adrenal cortex carcinoma Glioblastoma CLAPO syndrome Stroke disorder Macrodactyly of toe Cowden syndrome 1 Hemihypertrophy Megalencephaly-capillary malformation-polymicrogyria syndrome Colorectal cancer CEREBRAL CAVERNOUS MALFORMATIONS 4, SOMATIC Condition: not provided Cavernous lymphangioma	Criteria Provided Multiple Submitters No Conflicts	CA123328	rs_121913279	12 SubmittersRCV000014629 RCV000032905 RCV000201235 RCV000417557 RCV000429614 RCV000433765 RCV000438270 RCV000439524 RCV000440269 RCV000443341 RCV000418190 RCV000418315 RCV000423706 RCV000425496 RCV000422323 RCV000424813 RCV000442340 RCV000434874 RCV000443510 RCV000435425 RCV000435543 RCV000423048 RCV000427278 RCV000427664 RCV000428229 RCV000428866 RCV000434398 RCV000709692 RCV000626894 RCV000987367 RCV001526597 RCV001253236 RCV001807728 RCV001728092 RCV002254265 RCV004527292
NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys)	SNV Germline/somatic	Chr3:179218303	Pathogenic/Likely pathogenic	Breast adenocarcinoma OVARIAN CANCER, EPITHELIAL, SOMATIC Carcinoma of colon Seborrheic keratosis Non-small cell lung carcinoma Megalencephaly-capillary malformation-polymicrogyria syndrome Sarcoma Squamous cell carcinoma of the head and neck Papillary renal cell carcinoma type 1 Neoplasm of ovary Ovarian serous cystadenocarcinoma Small cell lung carcinoma Glioblastoma Gastric adenocarcinoma Uterine carcinosarcoma Squamous cell lung carcinoma Prostate adenocarcinoma Pancreatic adenocarcinoma Carcinoma of esophagus Transitional cell carcinoma of the bladder Nasopharyngeal neoplasm Hepatocellular carcinoma Malignant neoplasm of body of uterus Neoplasm of uterine cervix Gallbladder carcinoma Neoplasm of the large intestine Breast neoplasm Malignant melanoma of skin Papillary renal cell carcinoma, sporadic Brainstem glioma Lung adenocarcinoma Neoplasm of brain Condition: not provided CLOVES syndrome PIK3CA related overgrowth syndrome Segmental undergrowth associated with lymphatic malformation Gallbladder cancer Abnormal cardiovascular system morphology Eccrine Angiomatous Hamartoma Cerebrofacial Vascular Metameric Syndrome (CVMS) HEMIFACIAL MYOHYPERPLASIA, SOMATIC Gastric cancer Angioosteohypertrophic syndrome Rare venous malformation Rare combined vascular malformation	Criteria Provided Multiple Submitters No Conflicts	CA123334	rs_104886003	19 SubmittersRCV000014631 RCV000014632 RCV000014633 RCV000014636 RCV000038671 RCV000055930 RCV000119356 RCV000421583 RCV000421958 RCV000422210 RCV000426520 RCV000433976 RCV000438445 RCV000440694 RCV000441866 RCV000418058 RCV000417835 RCV000420851 RCV000423327 RCV000427202 RCV000428639 RCV000437876 RCV000425490 RCV000429391 RCV000438060 RCV000438587 RCV000431416 RCV000432636 RCV000433152 RCV000441949 RCV000440053 RCV000442569 RCV001092440 RCV001262721 RCV001290591 RCV001705591 RCV001374447 RCV001327963 RCV001786329 RCV001730473 RCV003764575 RCV002508125 RCV004527293 RCV004527294 RCV004527295
NM_006218.4(PIK3CA):c.1634A>G (p.Glu545Gly)	SNV Somatic	Chr3:179218304	Pathogenic	Epidermal nevus Carcinoma of colon Lung adenocarcinoma Transitional cell carcinoma of the bladder Carcinoma of esophagus Papillary renal cell carcinoma type 1 Breast neoplasm Gastric adenocarcinoma Squamous cell lung carcinoma Glioblastoma Pancreatic adenocarcinoma Papillary renal cell carcinoma, sporadic Melanoma Nasopharyngeal neoplasm Prostate adenocarcinoma Malignant neoplasm of body of uterus Squamous cell carcinoma of the head and neck Neoplasm of the large intestine Small cell lung carcinoma Neoplasm of uterine cervix Malignant melanoma of skin Gallbladder carcinoma Neoplasm of brain Ovarian serous cystadenocarcinoma Hepatocellular carcinoma Brainstem glioma Uterine carcinosarcoma PIK3CA related overgrowth syndrome	Criteria Provided Single Submitter	CA123336	rs_121913274	3 SubmittersRCV000014638 RCV000014637 RCV000418099 RCV000418752 RCV000419402 RCV000423395 RCV000427900 RCV000427099 RCV000429420 RCV000429663 RCV000434718 RCV000434929 RCV000433665 RCV000422071 RCV000435973 RCV000439693 RCV000424828 RCV000438613 RCV000440826 RCV000443425 RCV000439270 RCV000418146 RCV000418281 RCV000442411 RCV000424637 RCV000429485 RCV000433644 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 Malignant tumor of prostate PIK3CA related overgrowth syndrome Prostate adenocarcinoma Malignant melanoma of skin Neoplasm of ovary Squamous cell carcinoma of the head and neck Gastric adenocarcinoma Neoplasm of the large intestine Transitional cell carcinoma of the bladder Neoplasm of brain Malignant neoplasm of body of uterus Glioblastoma Uterine carcinosarcoma Medulloblastoma Breast neoplasm Neoplasm of uterine cervix Lung carcinoma Condition: not provided Segmental undergrowth associated with mainly venous malformation with capillary component	Criteria Provided Conflicting Classifications	CA123338	rs_121913286	8 SubmittersRCV000014640 RCV000014639 RCV000205164 RCV000201230 RCV000425454 RCV000430641 RCV000436582 RCV000442123 RCV000442141 RCV000424106 RCV000426539 RCV000431780 RCV000431921 RCV000419967 RCV000436763 RCV000421680 RCV000441825 RCV000443162 RCV000430236 RCV001762046 RCV001705592
NM_007103.4(NDUFV1):c.1268C>T (p.Thr423Met)	SNV Germline	Chr11:67612225	Pathogenic/Likely pathogenic	Mitochondrial complex I deficiency Condition: not provided Mitochondrial complex I deficiency, nuclear type 1 Mitochondrial complex 1 deficiency, nuclear type 4 Leigh syndrome	Criteria Provided Multiple Submitters No Conflicts	CA123735	rs_121913659	11 SubmittersRCV000015100 RCV000200093 RCV000763271 RCV000735412 RCV002468969
NM_007103.4(NDUFV1):c.175C>T (p.Arg59Ter)	SNV Germline	Chr11:67608571	Pathogenic	Mitochondrial complex 1 deficiency, nuclear type 4 Condition: not provided Leigh syndrome	Criteria Provided Multiple Submitters No Conflicts	CA082750	rs_768050261	6 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 1 deficiency, nuclear type 4 Condition: not provided Leigh syndrome	Criteria Provided Multiple Submitters No Conflicts	CA123737	rs_121913660	5 SubmittersRCV000015102 RCV001331688 RCV001851864 RCV003155025
NM_007103.4(NDUFV1):c.640G>A (p.Glu214Lys)	SNV Germline	Chr11:67610510	Pathogenic	Mitochondrial complex 1 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 Epilepsy, childhood absence, susceptibility to, 5 Epilepsy, childhood absence, susceptibility to, 1 SUDDEN INFANT DEATH SYNDROME Developmental and epileptic encephalopathy, 43	Criteria Provided Conflicting Classifications	CA126256	rs_121913125	5 SubmittersRCV000017574 RCV000703382 RCV001787803 RCV003133118
NM_000249.4(MLH1):c.131C>T (p.Ser44Phe)	SNV Germline	Chr3:36996633	Pathogenic	Colorectal cancer, hereditary nonpolyposis, type 2 Lynch syndrome Condition: not provided Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA004973	rs_63751109	4 SubmittersRCV000018608 RCV000075169 RCV001269530 RCV002381257
NM_000249.4(MLH1):c.986A>C (p.His329Pro)	SNV Germline	Chr3:37020411	Pathogenic	Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Lynch syndrome	Reviewed By Expert Panel	CA013465	rs_63750710	4 SubmittersRCV000215121 RCV000018614 RCV000075954
NM_000249.4(MLH1):c.676C>T (p.Arg226Ter)	SNV Germline/somatic	Chr3:37012098	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Lynch syndrome 1 Lynch-like syndrome Mismatch repair cancer syndrome 1 Condition: not provided Breast and/or ovarian cancer Hereditary nonpolyposis colorectal neoplasms Muir-Torré syndrome	Reviewed By Expert Panel	CA011496	rs_63751615	23 SubmittersRCV000075801 RCV000115485 RCV000018616 RCV001093685 RCV001249951 RCV001267883 RCV000202205 RCV003149572 RCV000524311 RCV003137535
NM_000249.4(MLH1):c.199G>T (p.Gly67Trp)	SNV Germline	Chr3:36996701	Pathogenic	Lynch syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Mismatch repair cancer syndrome 1 Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA008112	rs_63750206	4 SubmittersRCV000075475 RCV000018618 RCV001267885 RCV002415421
NM_000249.4(MLH1):c.350C>T (p.Thr117Met)	SNV Germline/somatic	Chr3:37004444	Pathogenic	Colorectal cancer, hereditary nonpolyposis, type 2 Lynch syndrome Lynch syndrome 1 Condition: not provided Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Lynch-like syndrome Endometrial carcinoma Colon cancer Inherited MMR deficiency (Lynch syndrome)	Reviewed By Expert Panel	CA009872	rs_63750781	27 SubmittersRCV000018626 RCV000075666 RCV000144599 RCV000160518 RCV000524293 RCV000570680 RCV001249927 RCV001353627 RCV003229801 RCV004584176
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	Colorectal cancer, hereditary nonpolyposis, type 2 Lynch syndrome Colon cancer Hereditary nonpolyposis colorectal neoplasms Condition: not provided Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA012452	rs_63750691	7 SubmittersRCV000018631 RCV000075875 RCV000677880 RCV000704907 RCV001723579 RCV002408469
NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr)	SNV Germline	Chr3:37048955	Pathogenic	not specified Colorectal cancer, hereditary nonpolyposis, type 2 Condition: not provided Hereditary cancer-predisposing syndrome Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary nonpolyposis colon cancer Muir-Torré syndrome Muir-Torré syndrome Mismatch repair cancer syndrome 1 Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA008304	rs_63750217	24 SubmittersRCV000202172 RCV000018632 RCV000519240 RCV000213700 RCV000075495 RCV000524270 RCV001328323 RCV002288511 RCV000763105
NM_000249.4(MLH1):c.200G>A (p.Gly67Glu)	SNV Germline	Chr3:36996702	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA008188	rs_63749939	8 SubmittersRCV000075482 RCV000132445 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		rs_1467976097	3 SubmittersRCV000018652 RCV001851919
NM_001379500.1(COL18A1):c.3013+3A>C	SNV Germline	Chr21:45505281	Pathogenic	Knobloch syndrome	No Assertion Criteria Provided		rs_770631950	1 SubmittersRCV000018656
NM_000249.4(MLH1):c.793C>T (p.Arg265Cys)	SNV Germline	Chr3:37017508	Pathogenic	Colorectal cancer, hereditary nonpolyposis, type 2 Lynch syndrome Condition: not provided Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Carcinoma of colon Lynch syndrome 1	Reviewed By Expert Panel	CA012394	rs_63751194	22 SubmittersRCV000022502 RCV000075872 RCV000034802 RCV000220712 RCV000524317 RCV000677879 RCV001093673
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	Reviewed By Expert Panel	CA007237	rs_63750693	6 SubmittersRCV000022505 RCV000075389 RCV001804746 RCV001851995 RCV002408475
NM_000377.3(WAS):c.881T>C (p.Ile294Thr)	SNV Germline	ChrX:48688403	Pathogenic/Likely pathogenic	X-linked severe congenital neutropenia Thrombocytopenia 1 Wiskott-Aldrich syndrome X-linked severe congenital neutropenia Condition: not provided WAS-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA281104	rs_387906717	8 SubmittersRCV000022859 RCV001058962 RCV001268500 RCV003407355
NM_001375834.1(WIPF1):c.1301C>G (p.Ser434Ter)	SNV Germline	Chr2:174567902	Pathogenic	Wiskott-Aldrich syndrome 2	No Assertion Criteria Provided		rs_1574785867	1 SubmittersRCV000023193
NM_018344.6(SLC29A3):c.1088G>A (p.Arg363Gln)	SNV Germline	Chr10:71362268	Pathogenic	H syndrome	Criteria Provided Single Submitter	CA129561	rs_387907066	2 SubmittersRCV000023938
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 Neoplasm of ovary Non-small cell lung carcinoma Condition: not provided Small cell lung carcinoma Neoplasm of the large intestine Squamous cell lung carcinoma Transitional cell carcinoma of the bladder Lung adenocarcinoma Breast neoplasm Carcinoma of esophagus Malignant neoplasm of body of uterus Gastric adenocarcinoma Prostate adenocarcinoma Neoplasm of brain Glioblastoma Squamous cell carcinoma of the head and neck Neoplasm of uterine cervix Papillary renal cell carcinoma, sporadic Hepatocellular carcinoma 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 Cowden syndrome PIK3CA-related overgrowth PIK3CA-related disorder PIK3CA related overgrowth syndrome HEMIFACIAL MYOHYPERPLASIA, SOMATIC Rare venous malformation	Reviewed By Expert Panel	CA333572	rs_121913273	17 SubmittersRCV000024622 RCV000151649 RCV000154513 RCV000416776 RCV000431000 RCV000431872 RCV000436932 RCV000438815 RCV000441707 RCV000442348 RCV000419905 RCV000420078 RCV000419440 RCV000426691 RCV000421639 RCV000433007 RCV000425548 RCV000430763 RCV000435811 RCV000445059 RCV000709693 RCV001255687 RCV001728093 RCV001327962 RCV001730477 RCV001836714 RCV002513230 RCV003987334 RCV004532404 RCV003458190 RCV003764635 RCV004527296
NM_006218.4(PIK3CA):c.1258T>C (p.Cys420Arg)	SNV Germline/somatic	Chr3:179210192	Pathogenic	CLOVES syndrome PIK3CA related overgrowth syndrome Neoplasm of ovary Squamous cell lung carcinoma Prostate adenocarcinoma Adenoid cystic carcinoma Gastric adenocarcinoma Malignant neoplasm of body of uterus Breast neoplasm Neoplasm of the large intestine CLAPO syndrome Abnormal cardiovascular system morphology Capillary malformation Segmental undergrowth associated with lymphatic malformation Condition: not provided Rare combined vascular malformation Cowden syndrome	Criteria Provided Multiple Submitters No Conflicts	CA180900	rs_121913272	15 SubmittersRCV000024623 RCV000201232 RCV000154512 RCV000444813 RCV000423306 RCV000427443 RCV000434659 RCV000444019 RCV000433143 RCV000439612 RCV000709694 RCV001327960 RCV001526612 RCV001705599 RCV002054475 RCV004527297 RCV003588566
NM_000249.4(MLH1):c.1381A>T (p.Lys461Ter)	SNV Germline/somatic	Chr3:37025979	Pathogenic	Lynch syndrome Condition: not provided Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Colorectal cancer, hereditary nonpolyposis, type 2 Mismatch repair cancer syndrome 1 Muir-Torré syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 1 Lynch-like syndrome	Reviewed By Expert Panel	CA005183	rs_63750540	17 SubmittersRCV000030213 RCV000202201 RCV000132422 RCV000659871 RCV000763102 RCV000524235 RCV001804748 RCV001249929
NM_000249.4(MLH1):c.1896+17T>C	SNV Germline	Chr3:37047700	Conflicting classifications of pathogenicity	Lynch syndrome not specified Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Breast and/or ovarian cancer	Criteria Provided Conflicting Classifications	CA007393	rs_193922368	5 SubmittersRCV000030217 RCV000441911 RCV000581070 RCV002054504 RCV003149580
NM_000249.4(MLH1):c.1937A>G (p.Tyr646Cys)	SNV Germline	Chr3:37048557	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Condition: not provided Colorectal cancer, hereditary nonpolyposis, type 2 Lynch syndrome 1 not specified Lynch syndrome	Criteria Provided Conflicting Classifications	CA007678	rs_35045067	14 SubmittersRCV000131964 RCV000524258 RCV000587551 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	Criteria Provided Conflicting Classifications	CA009110	rs_148317871	13 SubmittersRCV000030221 RCV000160545 RCV000411992 RCV000524281 RCV000573289 RCV000767194
NM_000249.4(MLH1):c.298C>T (p.Arg100Ter)	SNV Germline/somatic	Chr3:37001045	Pathogenic	Lynch syndrome Condition: not provided Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Lynch-like syndrome	Reviewed By Expert Panel	CA009575	rs_63751221	18 SubmittersRCV000030223 RCV000220956 RCV000576742 RCV000524287 RCV000569466 RCV001250008
NM_000249.4(MLH1):c.454-1G>A	SNV Germline	Chr3:37008813	Pathogenic	Colorectal cancer, hereditary nonpolyposis, type 2 Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Condition: not provided Lynch syndrome 1	Reviewed By Expert Panel	CA010570	rs_193922370	7 SubmittersRCV000018611 RCV000030226 RCV001067834 RCV001725119 RCV001804749
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 Lynch syndrome 1	Reviewed By Expert Panel	CA016912	rs_63750245	7 SubmittersRCV000030234 RCV000759091 RCV001009753 RCV001224622 RCV003450651
NM_000251.3(MSH2):c.2038C>T (p.Arg680Ter)	SNV Germline/somatic	Chr2:47476399	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Condition: not provided Lynch syndrome 1 Lynch-like syndrome Hereditary nonpolyposis colorectal neoplasms Malignant tumor of ascending colon Lynch syndrome 4	Reviewed By Expert Panel	CA019872	rs_63749932	20 SubmittersRCV000030248 RCV000115515 RCV000202174 RCV000576755 RCV001250040 RCV000524372 RCV000677886 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	Criteria Provided Conflicting Classifications	CA021148	rs_193922374	6 SubmittersRCV000030254 RCV000212584 RCV000115531 RCV001079015
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 Breast carcinoma Hereditary nonpolyposis colon cancer	Reviewed By Expert Panel	CA022585	rs_193922376	30 SubmittersRCV000001844 RCV000030256 RCV000115549 RCV000201997 RCV000524424 RCV001249912 RCV001353565 RCV001579303 RCV001731319
NM_000179.3(MSH6):c.975A>G (p.Gln325=)	SNV Germline	Chr2:47798958	Conflicting classifications of pathogenicity	Lynch syndrome not specified Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA016697	rs_193922345	5 SubmittersRCV000030278 RCV000423476 RCV000805479 RCV002256010
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 Thrombocytopenia 1 Wiskott-Aldrich syndrome X-linked severe congenital neutropenia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA342897	rs_193922415	4 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 Thrombocytopenia 1 Wiskott-Aldrich syndrome 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 Cowden syndrome 5 Abnormal cardiovascular system morphology Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes PIK3CA related overgrowth syndrome Cowden syndrome Angioosteohypertrophic syndrome Abnormal cerebral morphology	Reviewed By Expert Panel	CA130467	rs_587776932	15 SubmittersRCV000032907 RCV000414672 RCV001594376 RCV001327966 RCV001836717 RCV003233078 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 PIK3CA-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA130469	rs_397514565	7 SubmittersRCV000032908 RCV000201233 RCV000806643 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 Gastric adenocarcinoma Lung adenocarcinoma Ovarian serous cystadenocarcinoma Neoplasm of the large intestine Adrenal cortex carcinoma Malignant neoplasm of body of uterus Squamous cell lung carcinoma Malignant melanoma of skin Brainstem glioma Squamous cell carcinoma of the head and neck Pancreatic adenocarcinoma Hepatocellular carcinoma Malignant tumor of floor of mouth Glioblastoma Transitional cell carcinoma of the bladder Cowden syndrome Medulloblastoma Prostate adenocarcinoma Neoplasm of brain Carcinoma of esophagus Uterine carcinosarcoma Neoplasm of uterine cervix Breast neoplasm Papillary renal cell carcinoma type 1 13 conditions Condition: not provided Segmental undergrowth associated with mainly venous malformation with capillary component CLOVES syndrome PIK3CA related overgrowth syndrome HEMIFACIAL MYOHYPERPLASIA, SOMATIC	Criteria Provided Multiple Submitters No Conflicts	CA130471	rs_121913281	13 SubmittersRCV000032909 RCV000038675 RCV000425119 RCV000432323 RCV000436090 RCV000441963 RCV000444680 RCV000423369 RCV000425540 RCV000425809 RCV000435399 RCV000440398 RCV000441716 RCV000418438 RCV000420550 RCV000428005 RCV000435124 RCV000698423 RCV000417782 RCV000422744 RCV000424877 RCV000430750 RCV000432906 RCV000433635 RCV000441028 RCV000442782 RCV000763508 RCV001092441 RCV001705625 RCV002226661 RCV003233079 RCV003882732
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 Intellectual disability PIK3R2-related disorder	Reviewed By Expert Panel	CA130573	rs_587776934	26 SubmittersRCV000033029 RCV000190661 RCV000416575 RCV000366413 RCV001836718 RCV001849288 RCV001526656 RCV003914893
NM_139242.4(MTFMT):c.626C>T (p.Ser209Leu)	SNV Germline	Chr15:65021533	Pathogenic	Combined oxidative phosphorylation defect type 15 Leigh syndrome 6 conditions Condition: not provided Mitochondrial complex 1 deficiency, nuclear type 27 Inborn genetic diseases See cases Combined oxidative phosphorylation defect type 15 Mitochondrial complex 1 deficiency, nuclear type 27	Criteria Provided Multiple Submitters No Conflicts	CA130599	rs_201431517	17 SubmittersRCV000033047 RCV000190888 RCV000415235 RCV000320667 RCV000735417 RCV002513312 RCV002251943 RCV002477042
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 Hereditary cancer-predisposing syndrome not specified Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms MSH6-related disorder	Criteria Provided Conflicting Classifications	CA009344	rs_3136334	13 SubmittersRCV000034494 RCV000074692 RCV000128867 RCV000121577 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	Criteria Provided Conflicting Classifications	CA010704	rs_149945495	15 SubmittersRCV000034496 RCV000115393 RCV000235185 RCV000410628 RCV001080247 RCV003492327
NM_000251.3(MSH2):c.1748A>G (p.Asn583Ser)	SNV Germline	Chr2:47471051	Conflicting classifications of pathogenicity	Condition: not provided Lynch syndrome Hereditary cancer-predisposing syndrome Colorectal cancer, non-polyposis Lynch syndrome 1 Mismatch repair cancer syndrome 1 Muir-Torré syndrome Hereditary nonpolyposis colorectal neoplasms not specified Malignant tumor of breast Breast and/or ovarian cancer	Criteria Provided Conflicting Classifications	CA019161	rs_201118107	16 SubmittersRCV000034553 RCV000076263 RCV000115510 RCV000148636 RCV000765667 RCV001079601 RCV002265576 RCV001354468 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 Lynch syndrome Colorectal cancer, non-polyposis not specified Lynch syndrome 1 Lynch syndrome 1 Mismatch repair cancer syndrome 1 Muir-Torré syndrome Hereditary nonpolyposis colorectal neoplasms Breast and/or ovarian cancer	Criteria Provided Conflicting Classifications	CA019304	rs_41295288	23 SubmittersRCV000034554 RCV000115511 RCV000076286 RCV000148641 RCV000200985 RCV000659882 RCV000765668 RCV001081309 RCV003149607
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 nonpolyposis colorectal neoplasms Lynch syndrome 1 Hereditary nonpolyposis colon cancer Hereditary breast ovarian cancer syndrome Malignant tumor of breast MSH2-related disorder	Criteria Provided Conflicting Classifications	CA020577	rs_202145681	14 SubmittersRCV000034556 RCV000121564 RCV000129519 RCV001080801 RCV001093691 RCV001787035 RCV001030484 RCV001356651 RCV004534720
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	25 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 Hereditary cancer-predisposing syndrome Lynch syndrome Lynch syndrome 4 Mismatch repair cancer syndrome 1 Lynch syndrome 4 not specified Hereditary nonpolyposis colorectal neoplasms Hereditary cancer Breast and/or ovarian cancer	Criteria Provided Conflicting Classifications	CA010907	rs_201671325	26 SubmittersRCV000034624 RCV000115676 RCV000199450 RCV000515268 RCV000411225 RCV000417397 RCV001081398 RCV003492332 RCV001798066
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 Mismatch repair cancer syndrome 1 Lynch syndrome 4 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 4 Breast and/or ovarian cancer PMS2-related disorder	Criteria Provided Conflicting Classifications	CA012293	rs_201343342	18 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 Lynch syndrome 4 Hereditary nonpolyposis colorectal neoplasms Breast and/or ovarian cancer Lynch syndrome	Criteria Provided Conflicting Classifications	CA012331	rs_375289386	16 SubmittersRCV000034631 RCV000132453 RCV000221255 RCV000662753 RCV001080249 RCV001798067 RCV003996173
NM_000535.7(PMS2):c.708G>T (p.Leu236Phe)	SNV Germline	Chr7:5997421	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 4 not specified	Criteria Provided Conflicting Classifications	CA012634	rs_201395630	10 SubmittersRCV000034634 RCV000165656 RCV000231924 RCV000412437 RCV001290448
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 Hereditary nonpolyposis colorectal neoplasms Breast and/or ovarian cancer PMS2-related disorder	Criteria Provided Conflicting Classifications	CA013092	rs_146176004	19 SubmittersRCV000034637 RCV000115707 RCV000121855 RCV000123093 RCV000786854 RCV001082141 RCV003492334 RCV003891470
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	18 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 Wilms tumor 1 Frasier syndrome Drash syndrome 11p partial monosomy syndrome WT1-related disorder Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA016364	rs_142059681	7 SubmittersRCV000034780 RCV000122312 RCV000709139 RCV001081983 RCV004549406 RCV002255123
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_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	9 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 Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Hereditary nonpolyposis colon cancer Mismatch repair cancer syndrome 3 Lynch syndrome 5 Endometrial carcinoma Endometrial carcinoma Breast and/or ovarian cancer MSH6-related disorder	Reviewed By Expert Panel	CA015060	rs_267608094	25 SubmittersRCV000035325 RCV000131743 RCV000202305 RCV000410467 RCV000524203 RCV001824584 RCV002490471 RCV003460548 RCV003492340 RCV004528168
NM_000256.3(MYBPC3):c.821+1G>A	SNV Germline/somatic	Chr11:47347856	Pathogenic	Condition: not provided Hypertrophic cardiomyopathy Cardiovascular phenotype Primary familial hypertrophic cardiomyopathy Cardiomyopathy SUDDEN INFANT DEATH SYNDROME Primary dilated cardiomyopathy Left ventricular noncompaction 10 Hypertrophic cardiomyopathy 4 MYBPC3-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA015883	rs_397516073	24 SubmittersRCV000158313 RCV000168401 RCV000249601 RCV000845451 RCV001176299 RCV001787823 RCV001375643 RCV002288533 RCV001807754 RCV004549435
NM_006218.4(PIK3CA):c.1252G>A (p.Glu418Lys)	SNV Germline/somatic	Chr3:179210186	Conflicting classifications of pathogenicity	not specified CLOVES syndrome PIK3CA related overgrowth syndrome PIK3CA-related disorder	Criteria Provided Conflicting Classifications	CA136365	rs_397517199	4 SubmittersRCV000038669 RCV001256198 RCV003458192 RCV004534818
NM_006218.4(PIK3CA):c.1637A>G (p.Gln546Arg)	SNV Somatic	Chr3:179218307	Pathogenic	Neoplasm of ovary Neoplasm of uterine cervix Uterine carcinosarcoma Breast neoplasm Medulloblastoma Neoplasm of the large intestine Gastric adenocarcinoma Malignant melanoma of skin Neoplasm of brain Malignant neoplasm of body of uterus Transitional cell carcinoma of the bladder Prostate adenocarcinoma Squamous cell carcinoma of the head and neck Glioblastoma Abnormal cardiovascular system morphology Condition: not provided PIK3CA related overgrowth syndrome	Criteria Provided Multiple Submitters No Conflicts	CA136371	rs_397517201	6 SubmittersRCV000038672 RCV000417964 RCV000427826 RCV000439651 RCV000442332 RCV000422863 RCV000435640 RCV000440779 RCV000443308 RCV000423116 RCV000424486 RCV000434246 RCV000434598 RCV000433168 RCV001327965 RCV002254273 RCV003458193
NM_006218.4(PIK3CA):c.3073A>G (p.Thr1025Ala)	SNV Germline/somatic	Chr3:179234230	Pathogenic/Likely pathogenic	Non-small cell lung carcinoma CLOVES syndrome Condition: not provided PIK3CA related overgrowth syndrome	Criteria Provided Multiple Submitters No Conflicts	CA136374	rs_397517202	5 SubmittersRCV000038673 RCV001526503 RCV002254274 RCV003458194
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	Conflicting classifications of pathogenicity	Condition: not provided RYR1-related disorder Inborn genetic diseases King Denborough syndrome Central core myopathy Malignant hyperthermia, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion Central core myopathy King Denborough syndrome	Criteria Provided Conflicting Classifications	CA023836	rs_193922837	14 SubmittersRCV000119410 RCV000535801 RCV000624604 RCV001249074 RCV001775081 RCV003997313 RCV002477304
NM_000540.3(RYR1):c.7354C>T (p.Arg2452Trp)	SNV Germline	Chr19:38500636	Likely pathogenic; drug response	Central core myopathy Condition: not provided methoxyflurane response - Toxicity sevoflurane response - Toxicity succinylcholine response - Toxicity King Denborough syndrome desflurane response - Toxicity halothane response - Toxicity Malignant hyperthermia, susceptibility to, 1 RYR1-related disorder enflurane response - Toxicity isoflurane response - Toxicity RYR1-related myopathy	Reviewed By Expert Panel	CA024770	rs_118192124	13 SubmittersRCV000056226 RCV000119706 RCV001787851 RCV001787852 RCV001787853 RCV001729374 RCV001787847 RCV001787849 RCV002281899 RCV000527240 RCV001787848 RCV001787850 RCV002221195
NM_000540.3(RYR1):c.7522C>T (p.Arg2508Cys)	SNV Germline	Chr19:38500898	Likely pathogenic	Central core myopathy Condition: not provided RYR1-related disorder Inborn genetic diseases Congenital myopathy with fiber type disproportion Abnormality of the musculature King Denborough syndrome Malignant hyperthermia, susceptibility to, 1	Reviewed By Expert Panel	CA024819	rs_118192178	12 SubmittersRCV000056228 RCV000119718 RCV000552166 RCV000624571 RCV001198416 RCV001814037 RCV001731347 RCV002281900
NM_000540.3(RYR1):c.14473C>T (p.Arg4825Cys)	SNV Germline	Chr19:38580090	Conflicting classifications of pathogenicity	Central core myopathy Condition: not provided RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 Lynch syndrome 5	Criteria Provided Conflicting Classifications	CA024150	rs_118192180	5 SubmittersRCV000056232 RCV000119518 RCV001854163 RCV003996488 RCV004555852
NM_000540.3(RYR1):c.14677C>T (p.Arg4893Trp)	SNV Germline	Chr19:38584973	Conflicting classifications of pathogenicity	Central core myopathy Condition: not provided RYR1-related disorder Central core myopathy Congenital myopathy with fiber type disproportion King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA024220	rs_118192150	8 SubmittersRCV000056236 RCV000119545 RCV001046476 RCV002496742 RCV003996489
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	12 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	4 SubmittersRCV000057559 RCV000462343 RCV000505766
NM_000218.3(KCNQ1):c.820A>G (p.Ile274Val)	SNV Germline	Chr11:2572885	Conflicting classifications of pathogenicity	Congenital long QT syndrome SUDDEN INFANT DEATH SYNDROME Condition: not provided Long QT syndrome 1 Jervell and Lange-Nielsen syndrome 1 Short QT syndrome type 2 not specified Long QT syndrome Atrial fibrillation, familial, 3 Cardiac arrhythmia Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA008353	rs_199472728	9 SubmittersRCV000057771 RCV000148546 RCV000182121 RCV001102797 RCV001108026 RCV001108024 RCV000219577 RCV001080930 RCV001108025 RCV001841690 RCV002426616
NM_000238.4(KCNH2):c.2684C>T (p.Thr895Met)	SNV Germline	Chr7:150948452	Conflicting classifications of pathogenicity	SUDDEN INFANT DEATH SYNDROME Long QT syndrome Long QT syndrome 2 Long QT syndrome 1 Condition: not provided Cardiovascular phenotype Cardiac arrhythmia	Criteria Provided Conflicting Classifications	CA007147	rs_199473434	10 SubmittersRCV000058151 RCV000699702 RCV000988000 RCV001256913 RCV001588890 RCV004019008 RCV001841715
NM_000238.4(KCNH2):c.2860C>T (p.Arg954Cys)	SNV Germline	Chr7:150947711	Conflicting classifications of pathogenicity	SUDDEN INFANT DEATH SYNDROME Condition: not provided Cardiovascular phenotype Long QT syndrome Cardiac arrhythmia	Criteria Provided Conflicting Classifications	CA007528	rs_141401803	7 SubmittersRCV000058171 RCV000181898 RCV000588938 RCV000685653 RCV001841728
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.4892G>A (p.Arg1631His)	SNV Germline	Chr3:38551477	Conflicting classifications of pathogenicity	Conduction system disorder Condition: not provided Long QT syndrome 3 Brugada syndrome 1 Sick sinus syndrome 1 SUDDEN INFANT DEATH SYNDROME Cardiovascular phenotype Brugada syndrome Brugada syndrome 1 Cardiac arrhythmia	Criteria Provided Conflicting Classifications	CA018735	rs_199473286	11 SubmittersRCV000058723 RCV000519341 RCV001258072 RCV001530198 RCV001787861 RCV002336214 RCV003996546 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	Criteria Provided Multiple Submitters No Conflicts	CA019062	rs_199473631	4 SubmittersRCV000058760 RCV000183112 RCV001787862
NM_001190274.2(FBXO11):c.*1173A>T	SNV Germline	Chr2:47806945	Conflicting classifications of pathogenicity	not specified Lynch syndrome 5 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Hereditary cancer	Criteria Provided Conflicting Classifications	CA016549	rs_2020906	8 SubmittersRCV000202135 RCV000986755 RCV002256038 RCV002274909 RCV002514327 RCV003492396
NM_000179.3(MSH6):c.-8C>T	SNV Germline	Chr2:47783226	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Lynch syndrome 5 Endometrial carcinoma Lynch syndrome Condition: not provided MSH6-related disorder	Criteria Provided Conflicting Classifications	CA016627	rs_565211544	15 SubmittersRCV000131026 RCV000212613 RCV000412463 RCV001354724 RCV003997060 RCV000587581 RCV004537271
NM_000179.3(MSH6):c.1082G>A (p.Arg361His)	SNV Germline/somatic	Chr2:47799065	Conflicting classifications of pathogenicity	Lynch syndrome Lynch syndrome 5 Condition: not provided Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Endometrial carcinoma	Criteria Provided Conflicting Classifications	CA007978	rs_63750440	10 SubmittersRCV000074629 RCV000409637 RCV000487116 RCV000567227 RCV000701439 RCV003466931
NM_000179.3(MSH6):c.1109T>C (p.Leu370Ser)	SNV Germline	Chr2:47799092	Pathogenic/Likely pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome not specified Hereditary nonpolyposis colorectal neoplasms Condition: not provided Hereditary nonpolyposis colon cancer Gastric cancer Lynch syndrome 5	Criteria Provided Multiple Submitters No Conflicts	CA008059	rs_587779204	13 SubmittersRCV000074633 RCV000162441 RCV000202023 RCV000524101 RCV000518839 RCV001201190 RCV003162468 RCV003450922
NM_000179.3(MSH6):c.1133G>A (p.Arg378Lys)	SNV Germline	Chr2:47799116	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome not specified Carcinoma of colon Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Endometrial carcinoma	Criteria Provided Conflicting Classifications	CA008097	rs_587779205	8 SubmittersRCV000479933 RCV000569385 RCV001290538 RCV001358106 RCV003997062 RCV000629837 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	10 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 MSH6-related disorder Breast and/or ovarian cancer	Criteria Provided Conflicting Classifications	CA008371	rs_34014629	14 SubmittersRCV000131942 RCV000410444 RCV000422207 RCV000524105 RCV001354476 RCV001719808 RCV004542739 RCV003149716
NM_000179.3(MSH6):c.1273A>G (p.Ile425Val)	SNV Germline	Chr2:47799256	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Endometrial carcinoma Lynch syndrome	Criteria Provided Conflicting Classifications	CA008413	rs_63749971	5 SubmittersRCV000570856 RCV001063935 RCV003466932 RCV003997064
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 Hereditary nonpolyposis colorectal neoplasms Condition: not provided Lynch syndrome 5 Endometrial carcinoma	Criteria Provided Multiple Submitters No Conflicts	CA008468	rs_63751405	6 SubmittersRCV000128873 RCV000791437 RCV000214282 RCV002288560 RCV003460660
NM_000179.3(MSH6):c.1325T>C (p.Ile442Thr)	SNV Germline	Chr2:47799308	Conflicting classifications of pathogenicity	Condition: not provided Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Lynch syndrome	Criteria Provided Conflicting Classifications	CA008493	rs_587779210	6 SubmittersRCV000213558 RCV000627712 RCV000568557 RCV003997065
NM_000179.3(MSH6):c.1346T>C (p.Leu449Pro)	SNV Germline	Chr2:47799329	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 5 Lynch syndrome 1 Condition: not provided Endometrial carcinoma	Reviewed By Expert Panel	CA008516	rs_63750741	11 SubmittersRCV000074651 RCV000491070 RCV000627730 RCV000576688 RCV001804803 RCV003137604 RCV003466933
NM_000179.3(MSH6):c.1402C>T (p.Arg468Cys)	SNV Germline/somatic	Chr2:47799385	Conflicting classifications of pathogenicity	Lynch syndrome not specified Hereditary nonpolyposis colorectal neoplasms Condition: not provided Hereditary cancer-predisposing syndrome Mismatch repair cancer syndrome 1 Lynch syndrome 5 Lynch syndrome 5 MSH6-related disorder Endometrial carcinoma	Criteria Provided Conflicting Classifications	CA008576	rs_369456858	13 SubmittersRCV000074653 RCV000222213 RCV000524109 RCV000587141 RCV000166488 RCV001535649 RCV003450925 RCV004528269 RCV004566916
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	Reviewed By Expert Panel	CA008614	rs_63750909	17 SubmittersRCV000074656 RCV000215386 RCV000410127 RCV000491001 RCV000524108 RCV001355905 RCV003128135
NM_000179.3(MSH6):c.1474A>G (p.Met492Val)	SNV Germline	Chr2:47799457	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Hereditary nonpolyposis colorectal neoplasms Condition: not provided Carcinoma of colon Lynch syndrome	Criteria Provided Conflicting Classifications	CA008673	rs_61754783	12 SubmittersRCV000115374 RCV000212649 RCV000524111 RCV000587662 RCV001353728 RCV003997066
NM_000179.3(MSH6):c.1477G>T (p.Glu493Ter)	SNV Germline	Chr2:47799460	Pathogenic	Lynch syndrome	Reviewed By Expert Panel	CA008679	rs_267608046	1 SubmittersRCV000074658
NM_000179.3(MSH6):c.1483C>T (p.Arg495Ter)	SNV Germline/somatic	Chr2:47799466	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Lynch-like syndrome Carcinoma of colon Lynch syndrome 5 Endometrial carcinoma	Reviewed By Expert Panel	CA008701	rs_587779212	23 SubmittersRCV000074659 RCV000131420 RCV000202276 RCV000524112 RCV001249984 RCV001353858 RCV003334381 RCV003460662
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	Criteria Provided Conflicting Classifications	CA008795	rs_63751009	10 SubmittersRCV000219119 RCV000214996 RCV000556355 RCV000662803 RCV001194395 RCV003460663
NM_000179.3(MSH6):c.1572C>G (p.Tyr524Ter)	SNV Germline	Chr2:47799555	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary nonpolyposis colon cancer Condition: not provided Lynch syndrome 5	Reviewed By Expert Panel	CA008805	rs_587779215	7 SubmittersRCV000074665 RCV000491949 RCV000798747 RCV002469003 RCV002266921 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 not specified Hereditary nonpolyposis colorectal neoplasms MSH6-related disorder	Criteria Provided Conflicting Classifications	CA009071	rs_63749973	10 SubmittersRCV000131251 RCV000411714 RCV000212651 RCV001328467 RCV001080487 RCV004542740
NM_000179.3(MSH6):c.1729C>T (p.Arg577Cys)	SNV Germline	Chr2:47799712	Conflicting classifications of pathogenicity	Condition: not provided Lynch syndrome 5 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms not specified Hereditary nonpolyposis colon cancer Lynch syndrome Endometrial carcinoma	Criteria Provided Conflicting Classifications	CA009088	rs_542838372	13 SubmittersRCV000115381 RCV000409690 RCV000491847 RCV000524118 RCV003235029 RCV003993789 RCV003997068 RCV003466935
NM_000179.3(MSH6):c.1739C>T (p.Ser580Leu)	SNV Germline	Chr2:47799722	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms not specified Endometrial carcinoma Mismatch repair cancer syndrome 3 Endometrial carcinoma Lynch syndrome 5 Lynch syndrome 5	Criteria Provided Conflicting Classifications	CA009108	rs_41295270	12 SubmittersRCV000131189 RCV000485534 RCV000524119 RCV001818236 RCV003466936 RCV002498356 RCV004019093
NM_000179.3(MSH6):c.1754T>C (p.Leu585Pro)	SNV Germline/somatic	Chr2:47799737	Conflicting classifications of pathogenicity	Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colon cancer Condition: not provided Endometrial carcinoma Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 5 MSH6-related disorder	Criteria Provided Conflicting Classifications	CA009121	rs_587779220	11 SubmittersRCV000074683 RCV000491054 RCV001290557 RCV000219463 RCV003128136 RCV000791380 RCV003450930 RCV004537273
NM_000179.3(MSH6):c.1835C>A (p.Ser612Ter)	SNV Germline	Chr2:47799818	Pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Lynch syndrome 5	Reviewed By Expert Panel	CA009299	rs_63750564	4 SubmittersRCV000074690 RCV003593866 RCV002408572 RCV003450933
NM_000179.3(MSH6):c.1857A>C (p.Glu619Asp)	SNV Germline	Chr2:47799840	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Endometrial carcinoma Lynch syndrome	Criteria Provided Conflicting Classifications	CA009330	rs_63751121	7 SubmittersRCV000221704 RCV000132230 RCV000524122 RCV003460665 RCV003997069
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 Condition: not provided Hereditary nonpolyposis colorectal neoplasms MSH6-related disorder Carcinoma of colon	Criteria Provided Conflicting Classifications	CA009475	rs_34938432	14 SubmittersRCV000074697 RCV000166227 RCV000219792 RCV000409155 RCV001703971 RCV000524127 RCV004537274 RCV001355116
NM_000179.3(MSH6):c.2006T>C (p.Ile669Thr)	SNV Germline	Chr2:47799989	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Condition: not provided Hereditary nonpolyposis colorectal neoplasms Endometrial carcinoma Lynch syndrome	Criteria Provided Conflicting Classifications	CA009545	rs_555209664	10 SubmittersRCV000130794 RCV000507463 RCV000679222 RCV001083193 RCV003460666 RCV003997070
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 Endometrial carcinoma Hereditary nonpolyposis colon cancer not specified	Reviewed By Expert Panel	CA009620	rs_587779227	15 SubmittersRCV000074709 RCV000128865 RCV000212657 RCV000524130 RCV000576301 RCV001353773 RCV001526863 RCV000583928
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	Reviewed By Expert Panel	CA009627	rs_267608068	10 SubmittersRCV000074710 RCV000530716 RCV000162397 RCV000201965 RCV001353419 RCV002222379 RCV003450938
NM_000179.3(MSH6):c.2080T>C (p.Cys694Arg)	SNV Germline	Chr2:47800063	Conflicting classifications of pathogenicity	Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Lynch syndrome 5	Criteria Provided Conflicting Classifications	CA009656	rs_587779228	3 SubmittersRCV000822642 RCV001186406 RCV003450940
NM_000179.3(MSH6):c.2092C>G (p.Gln698Glu)	SNV Germline	Chr2:47800075	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms not specified Endometrial carcinoma	Criteria Provided Conflicting Classifications	CA009674	rs_63750832	12 SubmittersRCV000480300 RCV000130187 RCV000662368 RCV000524131 RCV003320553 RCV003466939
NM_000179.3(MSH6):c.2105C>G (p.Ser702Ter)	SNV Germline	Chr2:47800088	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Endometrial carcinoma Lynch syndrome 5 Mismatch repair cancer syndrome 3 Lynch syndrome 5	Reviewed By Expert Panel	CA009686	rs_63751419	5 SubmittersRCV000074717 RCV001014449 RCV000629877 RCV002490669 RCV003450941
NM_000179.3(MSH6):c.2117T>C (p.Phe706Ser)	SNV Germline	Chr2:47800100	Likely pathogenic	Lynch syndrome Condition: not provided Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA009702	rs_587779231	7 SubmittersRCV000074718 RCV001530136 RCV003137606 RCV001854277 RCV003584540
NM_000179.3(MSH6):c.2127T>A (p.Tyr709Ter)	SNV Germline	Chr2:47800110	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Condition: not provided Endometrial carcinoma Lynch syndrome 5	Reviewed By Expert Panel	CA009710	rs_587779232	6 SubmittersRCV000074719 RCV000130308 RCV000690199 RCV003148645 RCV003460669 RCV003450942
NM_000179.3(MSH6):c.2177T>A (p.Phe726Tyr)	SNV Germline	Chr2:47800160	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 5 Condition: not provided Lynch syndrome Endometrial carcinoma	Criteria Provided Conflicting Classifications	CA009822	rs_574358605	12 SubmittersRCV000568729 RCV000524133 RCV000662512 RCV001582560 RCV003997072 RCV003466941
NM_000179.3(MSH6):c.2183A>C (p.Lys728Thr)	SNV Germline	Chr2:47800166	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Condition: not provided Lynch syndrome	Criteria Provided Conflicting Classifications	CA009828	rs_35552856	6 SubmittersRCV000221222 RCV000563245 RCV000688768 RCV000657127 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 cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary nonpolyposis colon cancer Endometrial carcinoma Lynch syndrome 5	Reviewed By Expert Panel	CA009856	rs_63751127	13 SubmittersRCV000074726 RCV000212661 RCV000132226 RCV000524134 RCV002281906 RCV003466942 RCV003450944
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 Condition: not provided Hereditary nonpolyposis colorectal neoplasms Carcinoma of colon Lynch syndrome 5 Endometrial carcinoma	Reviewed By Expert Panel	CA010016	rs_63750138	16 SubmittersRCV000074732 RCV000162422 RCV000218399 RCV000524139 RCV001353694 RCV002467437 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.2408A>G (p.Asp803Gly)	SNV Germline	Chr2:47800391	Conflicting classifications of pathogenicity	Colorectal cancer not specified Lynch syndrome 5 Condition: not provided Hereditary cancer-predisposing syndrome Malignant tumor of breast Hereditary nonpolyposis colorectal neoplasms Lynch syndrome Endometrial carcinoma	Criteria Provided Conflicting Classifications	CA010206	rs_63751450	15 SubmittersRCV000148651 RCV000212666 RCV000410826 RCV000586083 RCV000130124 RCV001356592 RCV000524143 RCV003997077 RCV003466944
NM_000179.3(MSH6):c.2503C>T (p.Gln835Ter)	SNV Germline	Chr2:47800486	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Hereditary nonpolyposis colon cancer Lynch syndrome 5	Reviewed By Expert Panel	CA010314	rs_63751321	6 SubmittersRCV000074750 RCV000218020 RCV000520652 RCV001223542 RCV001731360 RCV003450946
NM_000179.3(MSH6):c.2561A>T (p.Lys854Met)	SNV Germline	Chr2:47800544	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Colorectal cancer not specified Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Carcinoma of colon Breast and/or ovarian cancer Condition: not provided MSH6-related disorder Mismatch repair cancer syndrome 1 Lynch syndrome 5 Endometrial carcinoma Lynch syndrome 1	Criteria Provided Conflicting Classifications	CA010423	rs_34374438	19 SubmittersRCV000129191 RCV000148652 RCV000121574 RCV000986723 RCV001083699 RCV001353909 RCV003149719 RCV000585210 RCV004528270 RCV000764424 RCV001093694
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.2702G>A (p.Arg901His)	SNV Germline	Chr2:47800685	Conflicting classifications of pathogenicity	Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Condition: not provided Endometrial carcinoma Lynch syndrome	Criteria Provided Conflicting Classifications	CA010764	rs_63749889	6 SubmittersRCV000559913 RCV000570122 RCV001561918 RCV003460671 RCV003997081
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 Endometrial carcinoma Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 5 Hereditary nonpolyposis colon cancer Lynch syndrome 5 Endometrial carcinoma Mismatch repair cancer syndrome 3 Gastric cancer Carcinoma of colon Breast carcinoma	Reviewed By Expert Panel	CA010815	rs_63751017	27 SubmittersRCV000074777 RCV000148645 RCV000129807 RCV000202017 RCV000524149 RCV000411710 RCV002271398 RCV002477210 RCV003162471 RCV001353531 RCV001554337
NM_000179.3(MSH6):c.2764C>T (p.Arg922Ter)	SNV Germline	Chr2:47800747	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Lynch syndrome 5 Condition: not provided Hereditary nonpolyposis colon cancer Gastric cancer Endometrial carcinoma Hereditary nonpolyposis colorectal neoplasms Carcinoma of colon	Reviewed By Expert Panel	CA010831	rs_587779246	15 SubmittersRCV000074779 RCV000491845 RCV001262897 RCV002267828 RCV002281907 RCV003162472 RCV003460672 RCV001056241 RCV001357595
NM_000179.3(MSH6):c.2815C>T (p.Gln939Ter)	SNV Germline	Chr2:47800798	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Lynch syndrome 5	Reviewed By Expert Panel	CA010943	rs_63750140	3 SubmittersRCV000074783 RCV000491935 RCV003450950
NM_000179.3(MSH6):c.2906A>C (p.Tyr969Ser)	SNV Germline	Chr2:47800889	Conflicting classifications of pathogenicity	Hereditary nonpolyposis colorectal neoplasms Condition: not provided Lynch syndrome 5 Endometrial carcinoma MSH6-related disorder Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA011072	rs_63749919	5 SubmittersRCV000552775 RCV003477462 RCV003398659 RCV004528271 RCV002433573
NM_000179.3(MSH6):c.2931C>G (p.Tyr977Ter)	SNV Germline	Chr2:47800914	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Condition: not provided Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 5 Endometrial carcinoma	Reviewed By Expert Panel	CA011115	rs_63750111	10 SubmittersRCV000074788 RCV000491868 RCV001008655 RCV001804805 RCV002514330 RCV003450952 RCV004566920
NM_000179.3(MSH6):c.2983G>T (p.Glu995Ter)	SNV Germline	Chr2:47800966	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 1 Lynch syndrome 5	Reviewed By Expert Panel	CA011274	rs_63750258	7 SubmittersRCV000074793 RCV000491673 RCV001269505 RCV001062414 RCV001804806 RCV003450954
NM_000179.3(MSH6):c.3013C>T (p.Arg1005Ter)	SNV Germline	Chr2:47800996	Pathogenic	Lynch syndrome Condition: not provided Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Hereditary nonpolyposis colon cancer Endometrial carcinoma	Reviewed By Expert Panel	CA011340	rs_63750563	21 SubmittersRCV000074795 RCV000202164 RCV000491215 RCV000624966 RCV000808924 RCV001263506 RCV003460674
NM_000179.3(MSH6):c.3020G>A (p.Trp1007Ter)	SNV Germline	Chr2:47801003	Pathogenic	Mismatch repair cancer syndrome 3 Lynch syndrome Lynch syndrome 5 Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA011367	rs_587779252	3 SubmittersRCV000009493 RCV000074796 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 Lynch syndrome 5	Reviewed By Expert Panel	CA011483	rs_267608059	6 SubmittersRCV000074801 RCV000491450 RCV000687014 RCV003450956
NM_000179.3(MSH6):c.3103C>T (p.Arg1035Ter)	SNV Germline	Chr2:47801086	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Hereditary nonpolyposis colon cancer Endometrial carcinoma Lynch syndrome 5 Endometrial carcinoma Mismatch repair cancer syndrome 3 Gastric cancer Lynch syndrome 5	Reviewed By Expert Panel	CA011558	rs_63749999	23 SubmittersRCV000074803 RCV000223452 RCV000484829 RCV000524153 RCV001194362 RCV001355855 RCV002477211 RCV003162473 RCV003450957
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 Endometrial carcinoma Lynch syndrome 5 Endometrial carcinoma not specified	Criteria Provided Conflicting Classifications	CA011694	rs_587779254	9 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 Hereditary nonpolyposis colon cancer Condition: not provided Lynch syndrome 5 Endometrial carcinoma	Reviewed By Expert Panel	CA011722	rs_587779255	8 SubmittersRCV000074809 RCV000565688 RCV000627710 RCV001194394 RCV003114239 RCV003450959 RCV003460678
NM_000179.3(MSH6):c.3202C>T (p.Arg1068Ter)	SNV Germline/somatic	Chr2:47803449	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Lynch syndrome 1 Condition: not provided Lynch syndrome 5 Mismatch repair cancer syndrome 1 Endometrial carcinoma Lynch syndrome 5 Endometrial carcinoma Carcinoma of colon Hereditary nonpolyposis colorectal neoplasms Gastric cancer Lynch-like syndrome Hereditary nonpolyposis colon cancer	Reviewed By Expert Panel	CA011916	rs_63749843	31 SubmittersRCV000074817 RCV000160692 RCV000172816 RCV000201960 RCV000607176 RCV000763497 RCV001253564 RCV001353539 RCV000524156 RCV003162474 RCV001249973 RCV003389678
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 Endometrial carcinoma Lynch syndrome Inherited prostate cancer Gastric cancer	Reviewed By Expert Panel	CA012063	rs_63750617	28 SubmittersRCV000074823 RCV000162445 RCV000254700 RCV000524159 RCV000709742 RCV000780464 RCV001356266 RCV001564011 RCV003492400 RCV003466947 RCV003997086 RCV004584185 RCV003162475
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 Condition: not provided Carcinoma of colon MSH6-related disorder Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 1 Lynch syndrome 5	Criteria Provided Conflicting Classifications	CA012135	rs_191109849	17 SubmittersRCV000074824 RCV000115409 RCV000121583 RCV000656898 RCV001358430 RCV004528272 RCV001085899 RCV001093655 RCV002288561
NM_000179.3(MSH6):c.3259C>A (p.Pro1087Thr)	SNV Germline	Chr2:47803506	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Lynch syndrome 5 Ovarian cancer Hereditary nonpolyposis colorectal neoplasms MSH6-related disorder	Criteria Provided Conflicting Classifications	CA012215	rs_63750998	10 SubmittersRCV000212679 RCV000131160 RCV001137558 RCV003153343 RCV001083021 RCV004537277
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 Condition: not provided Mismatch repair cancer syndrome 1 Lynch syndrome 5 Endometrial carcinoma Hereditary nonpolyposis colorectal neoplasms Breast carcinoma Lynch syndrome 5 MSH6-related disorder	Criteria Provided Conflicting Classifications	CA012243	rs_63750998	18 SubmittersRCV000148653 RCV000131245 RCV000212678 RCV000514075 RCV000764429 RCV001079820 RCV001262368 RCV003325179 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	Criteria Provided Conflicting Classifications	CA012273	rs_63750753	11 SubmittersRCV000074829 RCV000160725 RCV000524164 RCV000586012 RCV000764430 RCV003149721
NM_000179.3(MSH6):c.3284G>A (p.Arg1095His)	SNV Germline	Chr2:47803531	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Condition: not provided Lynch syndrome	Criteria Provided Conflicting Classifications	CA012443	rs_63750253	10 SubmittersRCV000164048 RCV000433110 RCV000412287 RCV000524168 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 Condition: not provided Malignant tumor of breast Hereditary nonpolyposis colorectal neoplasms Endometrial carcinoma Lynch syndrome 5 MSH6-related disorder Mismatch repair cancer syndrome 1 Lynch syndrome 5 Endometrial carcinoma	Criteria Provided Conflicting Classifications	CA012473	rs_63750442	17 SubmittersRCV000074836 RCV000218926 RCV000223174 RCV000587747 RCV001358521 RCV000524169 RCV003460680 RCV004019095 RCV004542742 RCV000764431
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	Criteria Provided Conflicting Classifications	CA012724	rs_587779261	6 SubmittersRCV000524174 RCV000573399 RCV001800369 RCV003460682 RCV003997088
NM_000179.3(MSH6):c.3415G>A (p.Gly1139Ser)	SNV Germline	Chr2:47803662	Likely pathogenic	Lynch syndrome 5 Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_63751063	2 SubmittersRCV003454113 RCV002452190
NM_000179.3(MSH6):c.3425C>T (p.Thr1142Met)	SNV Germline	Chr2:47803672	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Hereditary nonpolyposis colorectal neoplasms Malignant tumor of breast Lynch syndrome 5 Endometrial carcinoma Lynch syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA012799	rs_267608089	14 SubmittersRCV000115415 RCV000212683 RCV000524175 RCV001357449 RCV002288562 RCV003460683 RCV003997089 RCV000656899
NM_000179.3(MSH6):c.3436C>T (p.Gln1146Ter)	SNV Germline	Chr2:47803683	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Condition: not provided Lynch syndrome 5	Reviewed By Expert Panel	CA012815	rs_63750356	5 SubmittersRCV000074849 RCV000561009 RCV000629768 RCV000657654 RCV003450966
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 Endometrial carcinoma Mismatch repair cancer syndrome 3 Lynch syndrome 5 Lynch syndrome 5 Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms Endometrial carcinoma Hereditary nonpolyposis colon cancer	Reviewed By Expert Panel	CA012908	rs_587779263	15 SubmittersRCV000074858 RCV000215652 RCV000491481 RCV002483121 RCV003450968 RCV002272051 RCV000629776 RCV003460684 RCV003483460
NM_000179.3(MSH6):c.3439-2A>G	SNV Germline	Chr2:47804908	Likely pathogenic	Lynch syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 5 Hereditary cancer-predisposing syndrome Endometrial carcinoma Carcinoma of colon Hereditary nonpolyposis colon cancer Breast and/or ovarian cancer	Reviewed By Expert Panel	CA012917	rs_267608098	18 SubmittersRCV000074859 RCV000202159 RCV000524176 RCV000576575 RCV000130487 RCV001292865 RCV001353640 RCV001526853 RCV001798254
NM_000179.3(MSH6):c.3469G>A (p.Gly1157Ser)	SNV Germline	Chr2:47804940	Likely pathogenic	Hereditary cancer-predisposing syndrome not specified Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 5 Lynch syndrome 4 Inherited MMR deficiency (Lynch syndrome) Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA012971	rs_587779264	7 SubmittersRCV000131534 RCV000202300 RCV002513797 RCV003450969 RCV004555853 RCV004584187 RCV002510780
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 Lynch syndrome 5 Endometrial carcinoma	Reviewed By Expert Panel	CA013109	rs_587779267	9 SubmittersRCV000074867 RCV000115417 RCV000491292 RCV000791426 RCV003450970 RCV003466948
NM_000179.3(MSH6):c.3513T>C (p.Asp1171=)	SNV Germline	Chr2:47804984	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms not specified Lynch syndrome MSH6-related disorder	Criteria Provided Conflicting Classifications	CA013188	rs_63749834	13 SubmittersRCV000163879 RCV000524179 RCV000662442 RCV001081095 RCV000433073 RCV003997091 RCV004542743
NM_000179.3(MSH6):c.3563G>A (p.Ser1188Asn)	SNV Germline	Chr2:47805624	Conflicting classifications of pathogenicity	Condition: not provided Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 5 Endometrial carcinoma Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA013469	rs_587779272	7 SubmittersRCV000478227 RCV000685790 RCV003450973 RCV004566921 RCV000582224
NM_000179.3(MSH6):c.3577G>A (p.Glu1193Lys)	SNV Germline	Chr2:47805638	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Hereditary nonpolyposis colon cancer Lynch syndrome 5 Endometrial carcinoma Lynch syndrome	Criteria Provided Multiple Submitters No Conflicts	CA013478	rs_63751328	8 SubmittersRCV000166108 RCV000679239 RCV001302789 RCV003230394 RCV003450974 RCV003460687 RCV003997093
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 Endometrial carcinoma Lynch syndrome 5 not specified Lynch syndrome	Criteria Provided Conflicting Classifications	CA013519	rs_587779273	9 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 Condition: not provided Lynch syndrome 5	Reviewed By Expert Panel	CA013645	rs_587779279	9 SubmittersRCV000074902 RCV000491917 RCV000791366 RCV001781398 RCV002467438
NM_000179.3(MSH6):c.3647-2A>C	SNV Germline	Chr2:47806202	Pathogenic	Lynch syndrome Condition: not provided Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 5	Reviewed By Expert Panel	CA013656	rs_267608111	7 SubmittersRCV000074903 RCV001531316 RCV002345375 RCV001854283 RCV003335091
NM_000179.3(MSH6):c.3656C>T (p.Thr1219Ile)	SNV Germline	Chr2:47806213	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 5	Criteria Provided Conflicting Classifications	CA013759	rs_63750949	3 SubmittersRCV000572978 RCV001222841 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	Condition: not provided Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Endometrial carcinoma	Criteria Provided Conflicting Classifications	CA013789	rs_587779282	9 SubmittersRCV000217680 RCV000574037 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 Hereditary nonpolyposis colorectal neoplasms Condition: not provided Lynch syndrome 5 Lynch syndrome MSH6-related disorder	Criteria Provided Conflicting Classifications	CA014214	rs_375459388	12 SubmittersRCV000160699 RCV000212689 RCV000524187 RCV000587284 RCV000408995 RCV003997096 RCV004537280
NM_000179.3(MSH6):c.3768T>G (p.Tyr1256Ter)	SNV Germline	Chr2:47806325	Pathogenic	Lynch syndrome Condition: not provided Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 5 Endometrial carcinoma Mismatch repair cancer syndrome 1 Lynch syndrome 5	Reviewed By Expert Panel	CA014232	rs_63751058	12 SubmittersRCV000074926 RCV000202271 RCV000491038 RCV000546623 RCV003450979 RCV003460691 RCV003483461
NM_000179.3(MSH6):c.3772C>T (p.Gln1258Ter)	SNV Germline	Chr2:47806329	Pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms	Reviewed By Expert Panel	CA014244	rs_63750554	2 SubmittersRCV000074927 RCV003593872
NM_000179.3(MSH6):c.3787C>T (p.Arg1263Cys)	SNV Germline	Chr2:47806344	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 5 not specified Endometrial carcinoma	Criteria Provided Conflicting Classifications	CA014275	rs_367912290	10 SubmittersRCV000164843 RCV000485038 RCV000559935 RCV000659897 RCV003235031 RCV003460692
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.3851C>T (p.Thr1284Met)	SNV Germline	Chr2:47806501	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Lynch syndrome 5 Condition: not provided Hereditary nonpolyposis colorectal neoplasms Carcinoma of colon Endometrial carcinoma Breast and/or ovarian cancer	Criteria Provided Conflicting Classifications	CA014580	rs_63750836	13 SubmittersRCV000131709 RCV000454725 RCV000662523 RCV000759868 RCV001082428 RCV001357732 RCV003448259 RCV003492403
NM_000179.3(MSH6):c.3961A>G (p.Arg1321Gly)	SNV Germline	Chr2:47806611	Conflicting classifications of pathogenicity	Lynch syndrome Colorectal cancer, early onset not specified Lynch syndrome 5 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Malignant tumor of breast Condition: not provided MSH6-related disorder	Criteria Provided Conflicting Classifications	CA014874	rs_41295278	20 SubmittersRCV000074958 RCV000148646 RCV000202255 RCV000410058 RCV000115425 RCV001082577 RCV001355442 RCV000590664 RCV004528273
NM_000179.3(MSH6):c.4001+2T>C	SNV Germline	Chr2:47806653	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Condition: not provided	Reviewed By Expert Panel	CA015138	rs_267608131	5 SubmittersRCV000074969 RCV000491060 RCV003450986 RCV000812440 RCV002267832
NM_000179.3(MSH6):c.4001G>A (p.Arg1334Gln)	SNV Germline	Chr2:47806651	Pathogenic	Lynch syndrome not specified Hereditary nonpolyposis colorectal neoplasms Condition: not provided Hereditary cancer-predisposing syndrome Lynch syndrome 5 Endometrial carcinoma	Reviewed By Expert Panel	CA015202	rs_267608122	16 SubmittersRCV000074974 RCV000202090 RCV000542786 RCV000160701 RCV000491705 RCV000576708 RCV001355904
NM_000179.3(MSH6):c.4002-10T>A	SNV Germline	Chr2:47806769	Conflicting classifications of pathogenicity	not specified Condition: not provided Hereditary nonpolyposis colorectal neoplasms Carcinoma of colon See cases Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Lynch syndrome 5 MSH6-related disorder	Criteria Provided Conflicting Classifications	CA015230	rs_545466048	18 SubmittersRCV000160702 RCV000590285 RCV001081736 RCV001357666 RCV002287361 RCV003149725 RCV000771079 RCV000986753 RCV004542745
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 Hereditary cancer-predisposing syndrome Lynch syndrome 5	Reviewed By Expert Panel	CA015627	rs_267608035	4 SubmittersRCV000075000 RCV001190339 RCV003450988
NM_000179.3(MSH6):c.467C>G (p.Ser156Ter)	SNV Germline	Chr2:47795903	Pathogenic	Lynch syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Lynch syndrome 5 Lynch syndrome 1 Carcinoma of colon Endometrial carcinoma	Reviewed By Expert Panel	CA015662	rs_63749873	18 SubmittersRCV000075003 RCV000201956 RCV000524207 RCV000490955 RCV000576312 RCV000172813 RCV001357340 RCV003466952
NM_000179.3(MSH6):c.599C>A (p.Ser200Ter)	SNV Germline	Chr2:47796035	Pathogenic	Lynch syndrome	Reviewed By Expert Panel	CA015935	rs_63751077	1 SubmittersRCV000075008
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	3 SubmittersRCV000075015 RCV001071476 RCV003162479
NM_000179.3(MSH6):c.642C>G (p.Tyr214Ter)	SNV Germline	Chr2:47798625	Pathogenic	Lynch syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Mismatch repair cancer syndrome 3 Endometrial carcinoma Lynch syndrome 5 Lynch syndrome 5	Reviewed By Expert Panel	CA016086	rs_1800937	9 SubmittersRCV000075016 RCV000485263 RCV000703480 RCV001025256 RCV002477214 RCV003450990
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 Condition: not provided Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Carcinoma of colon Abnormality of the ovary Breast and/or ovarian cancer Hereditary cancer	Criteria Provided Conflicting Classifications	CA016186	rs_41557217	23 SubmittersRCV000115440 RCV000121575 RCV000588752 RCV000659887 RCV001083709 RCV001353587 RCV001564013 RCV001798257 RCV003492405
NM_000179.3(MSH6):c.694C>T (p.Gln232Ter)	SNV Germline	Chr2:47798677	Pathogenic	Lynch syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Lynch syndrome 5 Endometrial carcinoma	Reviewed By Expert Panel	CA016261	rs_587779318	10 SubmittersRCV000075025 RCV000412800 RCV001383732 RCV002362703 RCV003450991 RCV003460700
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 nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Carcinoma of colon Lynch syndrome 1 Lynch syndrome 5 Endometrial carcinoma Condition: not provided	Reviewed By Expert Panel	CA016325	rs_63750019	16 SubmittersRCV000075028 RCV000704209 RCV000220361 RCV001358367 RCV001310159 RCV002288564 RCV003460701 RCV000657653
NM_000179.3(MSH6):c.730C>T (p.Gln244Ter)	SNV Germline	Chr2:47798713	Pathogenic	Lynch syndrome Lynch syndrome 5 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Condition: not provided	Reviewed By Expert Panel	CA016353	rs_267608066	6 SubmittersRCV000075029 RCV000984323 RCV002381377 RCV002513799 RCV003144122
NM_000179.3(MSH6):c.73G>T (p.Ala25Ser)	SNV Germline	Chr2:47783306	Conflicting classifications of pathogenicity	Lynch syndrome Hereditary cancer-predisposing syndrome not specified Condition: not provided Mismatch repair cancer syndrome 1 Lynch syndrome 5 Endometrial carcinoma Hereditary nonpolyposis colorectal neoplasms Hereditary breast ovarian cancer syndrome MSH6-related disorder	Criteria Provided Conflicting Classifications	CA016371	rs_267608026	14 SubmittersRCV000075031 RCV000115442 RCV000417385 RCV000524214 RCV000765674 RCV001082180 RCV003482130 RCV004528274
NM_000179.3(MSH6):c.742C>T (p.Arg248Ter)	SNV Germline	Chr2:47798725	Pathogenic	Lynch syndrome Condition: not provided Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary nonpolyposis colon cancer Lynch syndrome 5 Endometrial carcinoma	Reviewed By Expert Panel	CA016391	rs_63749980	15 SubmittersRCV000075032 RCV000486750 RCV000490932 RCV000524215 RCV001193103 RCV002288565 RCV003460702
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 nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Lynch syndrome	Criteria Provided Conflicting Classifications	CA016429	rs_587779321	5 SubmittersRCV000506023 RCV000803732 RCV001026537 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	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	CA016470	rs_587779322	8 SubmittersRCV000568144 RCV000684794 RCV000759873 RCV002267836 RCV002504983 RCV003997104
NM_000179.3(MSH6):c.814G>T (p.Glu272Ter)	SNV Germline	Chr2:47798797	Pathogenic	Lynch syndrome Lynch syndrome 5	Reviewed By Expert Panel	CA016485	rs_63750552	2 SubmittersRCV000075038 RCV003450994
NM_000179.3(MSH6):c.854G>T (p.Ser285Ile)	SNV Germline	Chr2:47798837	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Colorectal cancer Condition: not provided Hereditary nonpolyposis colorectal neoplasms not specified Lynch syndrome Endometrial carcinoma	Criteria Provided Conflicting Classifications	CA016543	rs_63750878	9 SubmittersRCV000160657 RCV000148648 RCV000212635 RCV000556949 RCV001174593 RCV003997105 RCV004566926
NM_000179.3(MSH6):c.884A>G (p.Lys295Arg)	SNV Germline	Chr2:47798867	Conflicting classifications of pathogenicity	Lynch syndrome Hereditary cancer-predisposing syndrome not specified Lynch syndrome 5 Condition: not provided Hereditary nonpolyposis colorectal neoplasms	Criteria Provided Conflicting Classifications	CA016588	rs_267608051	16 SubmittersRCV000075042 RCV000115445 RCV000212636 RCV000410872 RCV000512927 RCV000524217
NM_000179.3(MSH6):c.892C>T (p.Arg298Ter)	SNV Germline	Chr2:47798875	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 5 Endometrial carcinoma	Reviewed By Expert Panel	CA016604	rs_146816935	14 SubmittersRCV000075043 RCV000130865 RCV000149892 RCV000551832 RCV003450996 RCV003466953
NM_000249.4(MLH1):c.1013A>G (p.Asn338Ser)	SNV Germline	Chr3:37020438	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Colorectal cancer, non-polyposis not specified Hereditary nonpolyposis colorectal neoplasms Condition: not provided Malignant tumor of breast Hereditary breast ovarian cancer syndrome Lynch syndrome Mismatch repair cancer syndrome 1 Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Colorectal cancer, hereditary nonpolyposis, type 2	Criteria Provided Conflicting Classifications	CA004051	rs_63751467	18 SubmittersRCV000128912 RCV000148621 RCV000220791 RCV000524219 RCV000656860 RCV001356843 RCV003483462 RCV003997106 RCV000764485 RCV000987162
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 syndrome 1 Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Lynch-like syndrome	Reviewed By Expert Panel	CA004088	rs_267607816	5 SubmittersRCV000075082 RCV001093692 RCV002514334 RCV003450998 RCV001249908
NM_000249.4(MLH1):c.1038G>A (p.Gln346=)	SNV Germline	Chr3:37020463	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA004100	rs_63751715	10 SubmittersRCV000075085 RCV000214854 RCV000506818 RCV000629976 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 Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA004114	rs_267607819	10 SubmittersRCV000075088 RCV000153506 RCV001201713 RCV002390213 RCV003451000
NM_000249.4(MLH1):c.1039-2A>G	SNV Germline/somatic	Chr3:37025635	Likely pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 MLH1-related disorder Condition: not provided	Reviewed By Expert Panel	CA004118	rs_267607815	6 SubmittersRCV000075090 RCV002514335 RCV003137609 RCV003390766 RCV003441739
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	Lynch syndrome Condition: not provided Carcinoma of colon Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA004200	rs_63749906	5 SubmittersRCV000075100 RCV001269567 RCV001353714 RCV002399429 RCV003451002
NM_000249.4(MLH1):c.109G>A (p.Glu37Lys)	SNV Germline/somatic	Chr3:36993656	Pathogenic/Likely pathogenic	Lynch syndrome Carcinoma of colon Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colorectal neoplasms	Criteria Provided Multiple Submitters No Conflicts	CA004328	rs_63751012	4 SubmittersRCV000075110 RCV001357016 RCV003451004 RCV000693918
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	Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 1 Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA004399	rs_63750580	5 SubmittersRCV000075115 RCV000129232 RCV001034681 RCV001804811 RCV003451006
NM_000249.4(MLH1):c.113A>G (p.Asn38Ser)	SNV Germline	Chr3:36993660	Pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms	Reviewed By Expert Panel	CA004445	rs_587778888	2 SubmittersRCV000075118 RCV000688444
NM_000249.4(MLH1):c.114C>G (p.Asn38Lys)	SNV Germline	Chr3:36993661	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA004476	rs_267607706	5 SubmittersRCV000075121 RCV001176886 RCV001206557 RCV003451007
NM_000249.4(MLH1):c.1153C>T (p.Arg385Cys)	SNV Germline	Chr3:37025751	Conflicting classifications of pathogenicity	Lynch syndrome not specified Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast and/or ovarian cancer Hereditary cancer Mismatch repair cancer syndrome 1 Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Criteria Provided Conflicting Classifications	CA004503	rs_63750760	14 SubmittersRCV000075124 RCV000202088 RCV000524225 RCV000490290 RCV000656862 RCV001030628 RCV000217569 RCV003149731 RCV003492407 RCV000764489
NM_000249.4(MLH1):c.116+1G>A	SNV Germline	Chr3:36993664	Likely pathogenic	Lynch syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Condition: not provided Mismatch repair cancer syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms	Reviewed By Expert Panel	CA004527	rs_267607709	7 SubmittersRCV000075127 RCV000709737 RCV001284001 RCV001294059 RCV002354257 RCV002514337
NM_000249.4(MLH1):c.116+5G>C	SNV Germline	Chr3:36993668	Pathogenic	Lynch syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Carcinoma of colon Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA004556	rs_267607710	7 SubmittersRCV000075129 RCV000413453 RCV000694368 RCV000776333 RCV001358274 RCV003451008
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	Reviewed By Expert Panel	CA004606	rs_587778894	4 SubmittersRCV000075144 RCV001034673 RCV002288566
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 Condition: not provided Hereditary nonpolyposis colorectal neoplasms	Reviewed By Expert Panel	CA004758	rs_267607713	3 SubmittersRCV000075155 RCV000255808 RCV003593875
NM_000249.4(MLH1):c.1225C>T (p.Gln409Ter)	SNV Germline	Chr3:37025823	Pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA004765	rs_63751153	5 SubmittersRCV000075156 RCV000541219 RCV002362706 RCV003451013
NM_000249.4(MLH1):c.122A>G (p.Asp41Gly)	SNV Germline	Chr3:36996624	Pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA004780	rs_63751094	5 SubmittersRCV000675183 RCV001216631 RCV002362707 RCV003451014
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	Criteria Provided Conflicting Classifications	CA004884	rs_63750791	12 SubmittersRCV000218731 RCV000524230 RCV000662538 RCV001355583 RCV001818238 RCV003997107
NM_000249.4(MLH1):c.1276C>T (p.Gln426Ter)	SNV Germline	Chr3:37025874	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA004908	rs_63750316	8 SubmittersRCV000075164 RCV000571335 RCV000690382 RCV003129769
NM_000249.4(MLH1):c.1327A>C (p.Lys443Gln)	SNV Germline	Chr3:37025925	Conflicting classifications of pathogenicity	Lynch syndrome 1 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Lynch syndrome	Criteria Provided Conflicting Classifications	CA004995	rs_34213726	6 SubmittersRCV000144608 RCV000219360 RCV001703974 RCV000697163 RCV003997108
NM_000249.4(MLH1):c.1409+1G>A	SNV Germline	Chr3:37026008	Likely pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Condition: not provided Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA005246	rs_267607825	10 SubmittersRCV000075192 RCV000220831 RCV000524237 RCV000519388 RCV003451024
NM_000249.4(MLH1):c.1409+1G>C	SNV Germline	Chr3:37026008	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colon cancer Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA005254	rs_267607825	5 SubmittersRCV000075193 RCV002390216 RCV002281908 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 Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Criteria Provided Conflicting Classifications	CA005399	rs_147939838	8 SubmittersRCV000075209 RCV000679267 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 Condition: not provided Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Breast and/or ovarian cancer	Reviewed By Expert Panel	CA005419	rs_587778913	8 SubmittersRCV000075212 RCV000219426 RCV001214512 RCV002390218 RCV003451027 RCV001270940
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	Reviewed By Expert Panel	CA005432	rs_587778914	3 SubmittersRCV000075213 RCV001069994 RCV003451028
NM_000249.4(MLH1):c.1459C>T (p.Arg487Ter)	SNV Germline/somatic	Chr3:37028833	Pathogenic	Lynch syndrome Condition: not provided Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Mismatch repair cancer syndrome 1 Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Lynch syndrome 1 Lynch-like syndrome Carcinoma of colon Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA005475	rs_63749795	22 SubmittersRCV000075218 RCV000255034 RCV000128870 RCV000524240 RCV000763103 RCV001093677 RCV001249944 RCV001353584 RCV000662808
NM_000249.4(MLH1):c.1460G>A (p.Arg487Gln)	SNV Germline	Chr3:37028834	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Lynch syndrome Breast and/or ovarian cancer	Criteria Provided Conflicting Classifications	CA005483	rs_587778917	10 SubmittersRCV000218037 RCV000480533 RCV000630048 RCV001257464 RCV003997113 RCV003492408
NM_000249.4(MLH1):c.1462A>T (p.Lys488Ter)	SNV Germline	Chr3:37028836	Pathogenic	Lynch syndrome	Reviewed By Expert Panel	CA005491	rs_587778918	1 SubmittersRCV000075220
NM_000249.4(MLH1):c.146T>A (p.Val49Glu)	SNV Germline	Chr3:36996648	Pathogenic	Lynch syndrome	Reviewed By Expert Panel	CA005522	rs_63750098	1 SubmittersRCV000075223
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	Criteria Provided Conflicting Classifications	CA005528	rs_63751145	9 SubmittersRCV000075224 RCV000132236 RCV000212538 RCV000524241 RCV003478994 RCV003474657
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 not specified Lynch syndrome	Criteria Provided Conflicting Classifications	CA005534	rs_63750226	12 SubmittersRCV000221321 RCV000409591 RCV000483364 RCV000627722 RCV000764493 RCV002228178 RCV003997114
NM_000249.4(MLH1):c.1528C>T (p.Gln510Ter)	SNV Germline	Chr3:37028902	Pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA005676	rs_63749923	4 SubmittersRCV000075235 RCV000699744 RCV002390219 RCV003451030
NM_000249.4(MLH1):c.1534G>T (p.Glu512Ter)	SNV Germline	Chr3:37028908	Pathogenic	Lynch syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA005696	rs_63751472	5 SubmittersRCV000075236 RCV001786332 RCV001854291 RCV002399430 RCV003451031
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 Lynch syndrome 1 Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA005817	rs_267607832	4 SubmittersRCV000075246 RCV001804813 RCV002399432 RCV003315592
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 Carcinoma of colon Colorectal cancer, hereditary nonpolyposis, type 2 Condition: not provided Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA005884	rs_267607837	6 SubmittersRCV000075253 RCV001238289 RCV001358119 RCV003451032 RCV001267988 RCV002399433
NM_000249.4(MLH1):c.1559-1G>C	SNV Germline	Chr3:37040185	Likely pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Condition: not provided Muir-Torré syndrome Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA005891	rs_267607837	7 SubmittersRCV000075254 RCV000539690 RCV001091800 RCV003448260 RCV001012154 RCV003455989
NM_000249.4(MLH1):c.1559-1G>T	SNV Germline	Chr3:37040185	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	CA005896	rs_267607837	9 SubmittersRCV000075255 RCV000485205 RCV000799045 RCV001193241 RCV003451033 RCV002399434
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	Reviewed By Expert Panel	CA005902	rs_267607836	3 SubmittersRCV000075256 RCV000524243 RCV003451034
NM_000249.4(MLH1):c.1559-2A>G	SNV Germline	Chr3:37040184	Pathogenic	Lynch syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Condition: not provided Hereditary nonpolyposis colorectal neoplasms	Reviewed By Expert Panel	CA005907	rs_267607836	6 SubmittersRCV000075257 RCV000410283 RCV000520869 RCV001201368
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 Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome not specified Colorectal cancer, hereditary nonpolyposis, type 2	Criteria Provided Conflicting Classifications	CA005937	rs_63751630	14 SubmittersRCV000075265 RCV000483197 RCV000627718 RCV000566893 RCV001778702 RCV000662491
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 Condition: not provided Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA006033	rs_63751277	5 SubmittersRCV000075275 RCV001354465 RCV002513801 RCV003451039 RCV002390220
NM_000249.4(MLH1):c.1613G>A (p.Trp538Ter)	SNV Germline	Chr3:37040240	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA006106	rs_587778933	4 SubmittersRCV000075276 RCV000567360 RCV000545817 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.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 cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colorectal neoplasms	Reviewed By Expert Panel	CA006231	rs_63750193	4 SubmittersRCV000075292 RCV000570739 RCV003451045 RCV001212034
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 nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Condition: not provided Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA006307	rs_267607845	9 SubmittersRCV000075300 RCV000629693 RCV000214110 RCV001353428 RCV003451048
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	4 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 nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA006384	rs_63751393	4 SubmittersRCV000075312 RCV000703498 RCV001012704 RCV003451050
NM_000249.4(MLH1):c.1684C>T (p.Gln562Ter)	SNV Germline	Chr3:37042284	Pathogenic	Lynch syndrome Hereditary nonpolyposis colon cancer Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA006391	rs_63751460	6 SubmittersRCV000075313 RCV001192578 RCV001310198 RCV001240104 RCV003451051 RCV002408574
NM_000249.4(MLH1):c.1721T>C (p.Leu574Pro)	SNV Germline/somatic	Chr3:37042321	Likely pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA006493	rs_63751608	4 SubmittersRCV000075320 RCV000698457 RCV002408575
NM_000249.4(MLH1):c.1731+1G>A	SNV Germline/somatic	Chr3:37042332	Pathogenic	Lynch syndrome Condition: not provided Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Lynch-like syndrome	Reviewed By Expert Panel	CA006527	rs_267607853	9 SubmittersRCV000075322 RCV001579372 RCV003451053 RCV002514341 RCV000574302 RCV001250003
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 Condition: not provided Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA006570	rs_267607850	5 SubmittersRCV000075328 RCV001012888 RCV001201385 RCV002279946 RCV003451056
NM_000249.4(MLH1):c.1731G>A (p.Ser577=)	SNV Germline	Chr3:37042331	Pathogenic	Lynch syndrome Condition: not provided Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colon cancer Colon cancer Lynch syndrome 1 Mismatch repair cancer syndrome 1 Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colorectal neoplasms Breast and/or ovarian cancer	Reviewed By Expert Panel	CA006585	rs_63751657	18 SubmittersRCV000075331 RCV000202231 RCV000132025 RCV000662481 RCV001553748 RCV001580146 RCV001804815 RCV002483122 RCV000524246 RCV003492410
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	Lynch syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA006625	rs_267607852	5 SubmittersRCV000075335 RCV000506870 RCV001386351 RCV002399446 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 Hereditary nonpolyposis colorectal neoplasms Hereditary breast ovarian cancer syndrome not specified Lynch syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Criteria Provided Conflicting Classifications	CA006690	rs_63751713	7 SubmittersRCV000571505 RCV000627697 RCV001030630 RCV001193957 RCV003997117 RCV004019101
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	Lynch syndrome Condition: not provided Carcinoma of colon Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colon cancer Hereditary nonpolyposis colorectal neoplasms	Reviewed By Expert Panel	CA006929	rs_63750604	9 SubmittersRCV000075365 RCV000479277 RCV001354093 RCV000565193 RCV003451068 RCV003492411 RCV003153348
NM_000249.4(MLH1):c.1810A>T (p.Lys604Ter)	SNV Germline	Chr3:37047597	Pathogenic	Lynch syndrome Condition: not provided Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA006984	rs_63750386	4 SubmittersRCV000075370 RCV000985779 RCV002255277 RCV003451069
NM_000249.4(MLH1):c.184C>T (p.Gln62Ter)	SNV Germline	Chr3:36996686	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA007117	rs_63751428	9 SubmittersRCV000075379 RCV000217644 RCV000254916 RCV000694109 RCV003451072
NM_000249.4(MLH1):c.1852A>G (p.Lys618Glu)	SNV Germline	Chr3:37047639	Conflicting classifications of pathogenicity	Condition: not provided not specified Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Breast and/or ovarian cancer Lynch syndrome	Criteria Provided Conflicting Classifications	CA007156	rs_35001569	19 SubmittersRCV000114852 RCV000174992 RCV000663286 RCV000132423 RCV001083570 RCV003149734 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 cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA007222	rs_267607866	4 SubmittersRCV000075387 RCV000165622 RCV000548274 RCV003451073
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	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA007410	rs_267607867	4 SubmittersRCV000075404 RCV000541555 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 Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA007419	rs_267607867	7 SubmittersRCV000075405 RCV000479456 RCV000684807 RCV001013523 RCV002288568
NM_000249.4(MLH1):c.1896+2T>C	SNV Germline	Chr3:37047685	Likely pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Condition: not provided	Reviewed By Expert Panel	CA007427	rs_267607869	4 SubmittersRCV000075407 RCV001854293 RCV002408584 RCV003235032
NM_000249.4(MLH1):c.1896G>A (p.Glu632=)	SNV Germline	Chr3:37047683	Pathogenic	Lynch syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colon cancer	Reviewed By Expert Panel	CA007444	rs_63751632	14 SubmittersRCV000075409 RCV000498248 RCV000524256 RCV000605751 RCV001013527 RCV001193961
NM_000249.4(MLH1):c.1897-2A>G	SNV Germline	Chr3:37048515	Likely pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Condition: not provided Hereditary cancer-predisposing syndrome not specified Mismatch repair cancer syndrome 1 Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA007469	rs_267607871	12 SubmittersRCV000075411 RCV000524638 RCV000662785 RCV000487325 RCV000570210 RCV001844029 RCV000763104
NM_000249.4(MLH1):c.189C>A (p.Asp63Glu)	SNV Germline	Chr3:36996691	Pathogenic	Lynch syndrome	Reviewed By Expert Panel	CA007476	rs_587778955	1 SubmittersRCV000075413
NM_000249.4(MLH1):c.1918C>T (p.Pro640Ser)	SNV Germline	Chr3:37048538	Likely pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary nonpolyposis colon cancer Carcinoma of colon Condition: not provided Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA007602	rs_63749792	7 SubmittersRCV000075424 RCV000569430 RCV000791363 RCV001193959 RCV001354000 RCV002223786 RCV002291271
NM_000249.4(MLH1):c.1919C>T (p.Pro640Leu)	SNV Germline	Chr3:37048539	Likely pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Criteria Provided Multiple Submitters No Conflicts	CA007611	rs_267607875	4 SubmittersRCV000075425 RCV000821758 RCV002408588 RCV003451083
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 Condition: not provided Lynch syndrome 1 Aqueductal stenosis Choreoathetosis Global developmental delay Lynch syndrome Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Criteria Provided Conflicting Classifications	CA007619	rs_63750952	15 SubmittersRCV000075426 RCV000217492 RCV000513562 RCV000490571 RCV000584818 RCV000708912 RCV001262297 RCV002288569
NM_000249.4(MLH1):c.1943C>T (p.Pro648Leu)	SNV Germline	Chr3:37048563	Likely pathogenic	Lynch syndrome 1 Hereditary cancer-predisposing syndrome Mismatch repair cancer syndrome 1 Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Condition: not provided Lynch syndrome Hereditary nonpolyposis colorectal neoplasms	Reviewed By Expert Panel	CA007716	rs_63750610	8 SubmittersRCV000075433 RCV000221413 RCV000477957 RCV001269952 RCV003997119 RCV000812087
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 Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA007760	rs_63751202	4 SubmittersRCV000075437 RCV001203288 RCV002415523 RCV003451086
NM_000249.4(MLH1):c.1961C>T (p.Pro654Leu)	SNV Germline	Chr3:37048581	Pathogenic	Lynch syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Breast carcinoma	Reviewed By Expert Panel	CA007789	rs_63750726	9 SubmittersRCV000075439 RCV000215855 RCV001201909 RCV002415524 RCV002463635 RCV001554328
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 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Lynch syndrome	Criteria Provided Conflicting Classifications	CA007891	rs_63749900	10 SubmittersRCV000121365 RCV000568527 RCV000656865 RCV001081501 RCV003997120
NM_000249.4(MLH1):c.1976G>C (p.Arg659Pro)	SNV Germline	Chr3:37048596	Pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Condition: not provided Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA007900	rs_63749900	5 SubmittersRCV000075447 RCV001064800 RCV003237435 RCV003451088 RCV002415525
NM_000249.4(MLH1):c.1976G>T (p.Arg659Leu)	SNV Germline	Chr3:37048596	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA007908	rs_63749900	3 SubmittersRCV000075448 RCV000572238
NM_000249.4(MLH1):c.1984A>C (p.Thr662Pro)	SNV Germline	Chr3:37048604	Likely pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms not specified Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA007926	rs_587778964	6 SubmittersRCV000075450 RCV000524263 RCV000780422 RCV001013906 RCV003451089
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 Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA007969	rs_267607879	3 SubmittersRCV000075456 RCV001054272 RCV003451090
NM_000249.4(MLH1):c.1989+1G>T	SNV Germline	Chr3:37048610	Pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Condition: not provided	Reviewed By Expert Panel	CA007977	rs_267607879	7 SubmittersRCV000075457 RCV000794468 RCV001180388 RCV000679272
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	Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Condition: not provided Lynch syndrome 1	Reviewed By Expert Panel	CA008008	rs_63751662	5 SubmittersRCV000075461 RCV001525221 RCV000508038 RCV000680174
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	Reviewed By Expert Panel	CA008068	rs_267607883	4 SubmittersRCV000075469 RCV000202242 RCV000690743 RCV003466957
NM_000249.4(MLH1):c.1998G>A (p.Trp666Ter)	SNV Germline	Chr3:37048912	Pathogenic	Lynch syndrome Condition: not provided Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms	Reviewed By Expert Panel	CA008096	rs_63750639	4 SubmittersRCV000075473 RCV000627203 RCV002415529 RCV002514344
NM_000249.4(MLH1):c.199G>A (p.Gly67Arg)	SNV Germline/somatic	Chr3:36996701	Pathogenic	Lynch syndrome Condition: not provided Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Lynch-like syndrome Hereditary nonpolyposis colon cancer Lynch syndrome 1 Carcinoma of colon	Reviewed By Expert Panel	CA008104	rs_63750206	22 SubmittersRCV000075474 RCV000202032 RCV000128871 RCV000524266 RCV000662719 RCV001249945 RCV001290649 RCV001310195 RCV001353779
NM_000249.4(MLH1):c.1A>G (p.Met1Val)	SNV Germline	Chr3:36993548	Pathogenic	Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Condition: not provided	Reviewed By Expert Panel	CA008127	rs_587778967	4 SubmittersRCV000075477 RCV000629832 RCV002415530 RCV003477467
NM_000249.4(MLH1):c.2011G>T (p.Glu671Ter)	SNV Germline/somatic	Chr3:37048925	Pathogenic	Lynch syndrome Lynch-like syndrome Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA008195	rs_63750663	4 SubmittersRCV000075483 RCV001249947 RCV002415532 RCV003451094
NM_000249.4(MLH1):c.2027T>C (p.Leu676Pro)	SNV Germline	Chr3:37048941	Conflicting classifications of pathogenicity	Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA008222	rs_63750242	5 SubmittersRCV000075485 RCV000216198 RCV000695668 RCV000987189 RCV000985781
NM_000249.4(MLH1):c.2035G>T (p.Glu679Ter)	SNV Germline	Chr3:37048949	Pathogenic	Lynch syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Carcinoma of colon Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA008258	rs_587778971	6 SubmittersRCV000075489 RCV000507295 RCV000529563 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	7 SubmittersRCV000075490 RCV000215088 RCV000791351 RCV001353998 RCV003451096
NM_000249.4(MLH1):c.2038T>G (p.Cys680Gly)	SNV Germline	Chr3:37048952	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	CA008274	rs_63750809	13 SubmittersRCV000483931 RCV000411388 RCV000579550 RCV000684822 RCV002228179 RCV003997122
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 nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA008297	rs_63749867	8 SubmittersRCV000075494 RCV000541158 RCV000662499 RCV000567661 RCV001711130
NM_000249.4(MLH1):c.2048T>C (p.Phe683Ser)	SNV Germline	Chr3:37048962	Likely pathogenic	Lynch syndrome not specified Hereditary cancer-predisposing syndrome Carcinoma of colon Colorectal cancer, hereditary nonpolyposis, type 2 Condition: not provided Hereditary nonpolyposis colorectal neoplasms	Reviewed By Expert Panel	CA008321	rs_587778972	7 SubmittersRCV000075497 RCV000790627 RCV001014231 RCV001355274 RCV003451098 RCV000589365 RCV001209526
NM_000249.4(MLH1):c.2059C>T (p.Arg687Trp)	SNV Germline	Chr3:37048973	Pathogenic	Lynch syndrome Condition: not provided Mismatch repair cancer syndrome 1 Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Lynch syndrome 1 Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colorectal neoplasms MLH1-related disorder Carcinoma of colon	Reviewed By Expert Panel	CA008336	rs_63751275	22 SubmittersRCV000075499 RCV000481137 RCV000763106 RCV001093679 RCV000215428 RCV000411954 RCV000524272 RCV003915039 RCV001356525
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 not specified Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA008435	rs_267607722	6 SubmittersRCV000075508 RCV000507560 RCV001000153 RCV001014311 RCV001210840 RCV003455993
NM_000249.4(MLH1):c.208-1G>A	SNV Germline	Chr3:37000954	Pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA008505	rs_267607717	4 SubmittersRCV000075514 RCV000629825 RCV002415535 RCV003451100
NM_000249.4(MLH1):c.208-2A>G	SNV Germline	Chr3:37000953	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA008517	rs_267607716	3 SubmittersRCV000075516 RCV002415536 RCV003137610
NM_000249.4(MLH1):c.208-3C>G	SNV Germline/somatic	Chr3:37000952	Likely pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Condition: not provided Hereditary cancer-predisposing syndrome Mismatch repair cancer syndrome 1 Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA008526	rs_267607720	8 SubmittersRCV000075517 RCV000524274 RCV000160554 RCV000562969 RCV000763098 RCV003451102
NM_000249.4(MLH1):c.2084C>A (p.Ser695Ter)	SNV Germline	Chr3:37048998	Pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA008537	rs_63749995	6 SubmittersRCV000075523 RCV001059462 RCV002415537 RCV003455995
NM_000249.4(MLH1):c.2093C>G (p.Ser698Ter)	SNV Germline	Chr3:37049007	Pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA008574	rs_587778975	6 SubmittersRCV000075525 RCV000706709 RCV002415539 RCV003451103
NM_000249.4(MLH1):c.2101C>T (p.Gln701Ter)	SNV Germline	Chr3:37049015	Pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Condition: not provided	Reviewed By Expert Panel	CA008607	rs_63750114	7 SubmittersRCV000075528 RCV001854297 RCV002415540 RCV003451104 RCV003480053
NM_000249.4(MLH1):c.2103+1G>A	SNV Germline	Chr3:37049018	Pathogenic	Lynch syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA008626	rs_267607888	6 SubmittersRCV000075529 RCV000202158 RCV001380413 RCV002415541
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	Lynch syndrome Lynch syndrome 1 Hereditary nonpolyposis colon cancer Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Condition: not provided	Reviewed By Expert Panel	CA008661	rs_63750603	7 SubmittersRCV000075534 RCV001093697 RCV001549279 RCV002288570 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 Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA008714	rs_267607889	3 SubmittersRCV000075540 RCV002415543 RCV003451106
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	Lynch syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 1 Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA008833	rs_63750561	11 SubmittersRCV000075550 RCV000202047 RCV000686456 RCV001310200 RCV003451108 RCV000581002
NM_000249.4(MLH1):c.2136G>A (p.Trp712Ter)	SNV Germline/somatic	Chr3:37050518	Pathogenic	Lynch syndrome Lynch-like syndrome Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA008842	rs_63750499	4 SubmittersRCV000075551 RCV001249996 RCV002415546 RCV003451109
NM_000249.4(MLH1):c.2141G>A (p.Trp714Ter)	SNV Germline	Chr3:37050523	Pathogenic	Lynch syndrome Lynch syndrome 1 Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colorectal neoplasms Condition: not provided	Reviewed By Expert Panel	CA008850	rs_63751022	9 SubmittersRCV000075553 RCV000144606 RCV000165669 RCV003451110 RCV001044497 RCV002280100
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 Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Lynch syndrome	Criteria Provided Conflicting Classifications	CA008948	rs_587778985	7 SubmittersRCV000162502 RCV000627729 RCV002288571 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 MLH1-related disorder Mismatch repair cancer syndrome 1 Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Lynch syndrome	Criteria Provided Conflicting Classifications	CA008958	rs_587778986	13 SubmittersRCV000160544 RCV000212548 RCV000409675 RCV000524278 RCV000781540 RCV003390768 RCV002483123 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	not specified Hereditary nonpolyposis colorectal neoplasms Condition: not provided Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Lynch syndrome	Criteria Provided Conflicting Classifications	CA009001	rs_138584384	9 SubmittersRCV000485816 RCV000627721 RCV000767193 RCV001014672 RCV004566928 RCV003997126
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 Colorectal cancer, hereditary nonpolyposis, type 2 Mismatch repair cancer syndrome 1 Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colorectal neoplasms	Criteria Provided Conflicting Classifications	CA009007	rs_566928243	16 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	5 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 cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms MLH1-related disorder Lynch syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Criteria Provided Conflicting Classifications	CA009102	rs_267607885	8 SubmittersRCV000115474 RCV000563079 RCV000791373 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	Lynch syndrome Hereditary cancer-predisposing syndrome Condition: not provided Carcinoma of colon Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colorectal neoplasms	Reviewed By Expert Panel	CA009197	rs_267607894	11 SubmittersRCV000075583 RCV000216146 RCV000478074 RCV001355258 RCV001823108 RCV000627694
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 Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Condition: not provided	Reviewed By Expert Panel	CA009334	rs_63750437	11 SubmittersRCV000075598 RCV000562335 RCV000791362 RCV001262551 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 Hereditary cancer-predisposing syndrome not specified Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 1 Carcinoma of colon Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA009402	rs_587778998	12 SubmittersRCV000075602 RCV000166056 RCV000506252 RCV000542720 RCV000490565 RCV001353582 RCV002467439
NM_000249.4(MLH1):c.245C>T (p.Thr82Ile)	SNV Germline	Chr3:37000992	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colorectal neoplasms Hereditary nonpolyposis colon cancer Condition: not provided	Reviewed By Expert Panel	CA009423	rs_63750005	8 SubmittersRCV000075604 RCV000222555 RCV000659867 RCV000630024 RCV001778703 RCV003477470
NM_000249.4(MLH1):c.250A>G (p.Lys84Glu)	SNV Germline	Chr3:37000997	Likely pathogenic	Lynch syndrome Condition: not provided Carcinoma of colon Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA009442	rs_63750641	7 SubmittersRCV000075606 RCV001269582 RCV001353981 RCV001201354 RCV002433575 RCV003451121
NM_000249.4(MLH1):c.256C>T (p.Gln86Ter)	SNV Germline	Chr3:37001003	Pathogenic	Lynch syndrome Condition: not provided Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA009451	rs_63751421	6 SubmittersRCV000075607 RCV001529525 RCV002453384 RCV002513802 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.299G>C (p.Arg100Pro)	SNV Germline	Chr3:37001046	Pathogenic	Lynch syndrome 1 Condition: not provided Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colon cancer	Reviewed By Expert Panel	CA009587	rs_63750266	6 SubmittersRCV000075619 RCV001532480 RCV001854301 RCV002291272 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 cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Condition: not provided Hereditary nonpolyposis colorectal neoplasms	Reviewed By Expert Panel	CA009600	rs_111052004	5 SubmittersRCV000075621 RCV002433577 RCV002288572 RCV001800370 RCV003593883
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 Condition: not provided not specified Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA009611	rs_267607726	6 SubmittersRCV000075623 RCV000486320 RCV000502831 RCV001211883 RCV003162483 RCV003451125
NM_000249.4(MLH1):c.302G>A (p.Gly101Asp)	SNV Germline	Chr3:37001049	Likely pathogenic	Lynch syndrome 1 Condition: not provided Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA009617	rs_267607727	4 SubmittersRCV000075624 RCV000481030 RCV000568721 RCV003451126
NM_000249.4(MLH1):c.304G>A (p.Glu102Lys)	SNV Germline	Chr3:37001051	Likely pathogenic	Lynch syndrome 1 Hereditary cancer-predisposing syndrome not specified 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 RCV000216042 RCV000501856 RCV000493419 RCV000781538 RCV000807476 RCV001353830 RCV003451127
NM_000249.4(MLH1):c.306+1G>A	SNV Germline	Chr3:37001054	Pathogenic	Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Gastric cancer Condition: not provided Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA009647	rs_267607734	6 SubmittersRCV000075628 RCV000544543 RCV002444531 RCV003162484 RCV003237436 RCV003451128
NM_000249.4(MLH1):c.306+5G>A	SNV Germline	Chr3:37001058	Pathogenic	Colorectal cancer, hereditary nonpolyposis, type 2 Lynch syndrome Condition: not provided Mismatch repair cancer syndrome 1 Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 1	Reviewed By Expert Panel	CA009684	rs_267607735	9 SubmittersRCV000022504 RCV000075634 RCV000202186 RCV000763099 RCV001018363 RCV001045822 RCV001804820
NM_000249.4(MLH1):c.306G>C (p.Glu102Asp)	SNV Germline	Chr3:37001053	Pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA009696	rs_63751665	4 SubmittersRCV000075636 RCV001048439 RCV002444532 RCV003451130
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 Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colorectal neoplasms	Reviewed By Expert Panel	CA009742	rs_267607732	3 SubmittersRCV000075644 RCV003451132 RCV002514345
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	5 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 not specified Lynch syndrome Mismatch repair cancer syndrome 1 Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Criteria Provided Conflicting Classifications	CA009850	rs_63750465	10 SubmittersRCV000115481 RCV000235173 RCV000410226 RCV000524292 RCV000780414 RCV003997128 RCV000764481
NM_000249.4(MLH1):c.350C>G (p.Thr117Arg)	SNV Germline	Chr3:37004444	Likely pathogenic	Hereditary nonpolyposis colorectal neoplasms Condition: not provided Lynch syndrome 1 Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA009864	rs_63750781	7 SubmittersRCV000075665 RCV000202256 RCV000622257 RCV000569088
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	Condition: not provided Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Breast and/or ovarian cancer Lynch syndrome	Criteria Provided Conflicting Classifications	CA009965	rs_200076893	10 SubmittersRCV000217922 RCV000410157 RCV000524295 RCV000571582 RCV003149739 RCV003997129

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

SNV
Germline

Chr11:126275389

Pathogenic

Mitochondrial complex 1 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

4 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

4 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.3364C>T (p.Pro1122Ser)

SNV
Germline

Chr4:15567752

Conflicting classifications of pathogenicity

Joubert syndrome 9
Condition: not provided
COACH syndrome 1
Meckel-Gruber syndrome
Familial aplasia of the vermis

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
CC2D2A-related disorder
Familial aplasia of the vermis
Meckel-Gruber syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA114471

rs_118204052

7 SubmittersRCV000000780 RCV000445290 RCV001269034 RCV003234885 RCV004532267 RCV003764503

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

SNV
Germline

Chr4:15563485

Pathogenic

COACH syndrome 2
Joubert syndrome 9/15, digenic
Familial aplasia of the vermis
Meckel-Gruber syndrome
Condition: not provided
See cases
Retinitis pigmentosa 93
COACH syndrome 2
Joubert syndrome 9
Meckel syndrome, type 6

Criteria Provided
Multiple Submitters
No Conflicts

CA129544

rs_386833750

6 SubmittersRCV000000783 RCV000023922 RCV000199602 RCV000578695 RCV002251848 RCV002476904

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

SNV
Germline

Chr4:15567735

Conflicting classifications of pathogenicity

COACH syndrome 2
Joubert syndrome 9
Condition: not provided
Familial aplasia of the vermis
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

CA210343

rs_267606709

5 SubmittersRCV000000784 RCV000201781 RCV000729670 RCV001383566

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

SNV
Germline

Chr3:32140231

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA213881

rs_72552293

18 SubmittersRCV000000824 RCV000157243 RCV000203752 RCV000029945 RCV000620285 RCV000170920 RCV000852958 RCV001081825 RCV003952333

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

SNV
Germline

Chr16:53652844

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA251689

rs_121918198

8 SubmittersRCV000001124 RCV000393725 RCV000689745 RCV001271279 RCV003155007 RCV004528062 RCV002482812

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

SNV
Germline

Chr16:53645694

Conflicting classifications of pathogenicity

Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 1
Meckel syndrome, type 5
RPGRIP1L-related disorder
Condition: not provided
Familial aplasia of the vermis
Meckel-Gruber syndrome
Familial aplasia of the vermis
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

CA130771

rs_121918203

8 SubmittersRCV000033207 RCV000762961 RCV000779628 RCV000790748 RCV001059320 RCV001831501 RCV004017218

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

SNV
Germline

Chr16:53652637

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA251696

rs_121918204

10 SubmittersRCV000001131 RCV000824619 RCV001781157 RCV000762962 RCV001271277 RCV001813927

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

SNV
Germline

Chr16:53645895

Pathogenic

COACH syndrome 3
Joubert syndrome 7
Condition: not provided
Familial aplasia of the vermis
Meckel-Gruber syndrome
Familial aplasia of the vermis
Joubert syndrome 7
COACH syndrome 3
Meckel syndrome, type 5

Criteria Provided
Multiple Submitters
No Conflicts

CA210648

rs_145665129

6 SubmittersRCV000001134 RCV000201645 RCV000733537 RCV001382825 RCV001831502 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

Joubert syndrome 6
COACH syndrome 1
Familial aplasia of the vermis
Meckel-Gruber syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA210653

rs_137853107

3 SubmittersRCV000001436 RCV000001437 RCV001851544

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 syndrome, type 3
Nephronophthisis 11
Familial aplasia of the vermis
Meckel-Gruber syndrome
COACH syndrome 1
not specified
TMEM67-related disorder

Criteria Provided
Conflicting Classifications

CA114968

rs_111619594

14 SubmittersRCV000001444 RCV000234830 RCV000725926 RCV001158404 RCV001198570 RCV001158405 RCV001158406 RCV001085857 RCV001333012 RCV003488318 RCV004528064

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

SNV
Germline

Chr8:93808898

Pathogenic/Likely pathogenic

COACH syndrome 1
Joubert syndrome 6
Familial aplasia of the vermis
Meckel-Gruber syndrome
Condition: not provided
6 conditions
TMEM67-related disorder
Meckel syndrome, type 3
Joubert syndrome and related disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA210657

rs_267607119

11 SubmittersRCV000001445 RCV000001446 RCV000821785 RCV001310635 RCV001536092 RCV003315221 RCV000995902 RCV001804708

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
Familial aplasia of the vermis
Meckel-Gruber 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

COACH syndrome 1
Joubert syndrome 6
Condition: not provided
Familial aplasia of the vermis
Meckel-Gruber syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA210661

rs_267607115

7 SubmittersRCV000001449 RCV000201677 RCV001781164 RCV001851546

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
Renal cyst
Oligohydramnios
Familial aplasia of the vermis
Familial aplasia of the vermis
Meckel-Gruber syndrome
Condition: not provided
Inborn genetic diseases
14 conditions
Bardet-Biedl syndrome 14
Nephronophthisis 11
Joubert syndrome 6
COACH syndrome 1
Meckel syndrome, type 3
RHYNS syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA114977

rs_201893408

14 SubmittersRCV000001452 RCV000001451 RCV000234823 RCV000283682 RCV000415055 RCV000534533 RCV000479077 RCV000623857 RCV000627004 RCV000763610 RCV001197497

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

SNV
Germline

Chr5:61073136

Pathogenic/Likely pathogenic

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

Reviewed By Expert Panel

CA017519

rs_63751108

25 SubmittersRCV000001825 RCV000162489 RCV000202291 RCV000030238 RCV000524334 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
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Reviewed By Expert Panel

CA019344

rs_63750047

8 SubmittersRCV000001828 RCV000076290 RCV000428558 RCV000491732 RCV000809096 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
Lynch syndrome 1
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Hereditary nonpolyposis colorectal neoplasms
Carcinoma of colon

Reviewed By Expert Panel

CA019533

rs_63750875

21 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
11p partial monosomy syndrome
Frasier syndrome
Drash syndrome
Condition: not provided
Wilms tumor 1
Steroid-resistant nephrotic syndrome
Nephrotic range proteinuria
Kidney disorder
8 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA016324

rs_121907900

13 SubmittersRCV000003656 RCV000003657 RCV000003658 RCV000467701 RCV000484426 RCV001290016 RCV001003819 RCV002293973 RCV002482821

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

SNV
Germline

Chr11:32392704

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA016285

rs_121907901

9 SubmittersRCV000003659 RCV000484493 RCV003147274 RCV002496247 RCV001250546 RCV002243617 RCV001851622

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

SNV
Germline

Chr11:32392013

Likely pathogenic

Drash syndrome
Drash syndrome
11p partial monosomy syndrome
Wilms tumor 1
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
8 conditions
WT1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA016607

rs_587776576

17 SubmittersRCV000003665 RCV000030876 RCV000208283 RCV000589623 RCV000705142 RCV001290018 RCV001288155 RCV002482822 RCV004547457

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

SNV
Germline

Chr11:32392032

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA016309

rs_121907909

6 SubmittersRCV000003666 RCV000030877 RCV000471023 RCV000521800 RCV002293974 RCV002504738

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

SNV
Germline

Chr11:32392672

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA016298

rs_28942089

3 SubmittersRCV000003667 RCV000003668 RCV002512715

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

SNV
Germline

Chr11:32392723

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA016273

rs_121907906

5 SubmittersRCV000003670 RCV000003671 RCV000685465 RCV000762840 RCV001565696

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

SNV
Germline

Chr11:32392682

Pathogenic

Drash syndrome

No Assertion Criteria Provided

CA016292

rs_121907907

1 SubmittersRCV000003672

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

SNV
Germline

Chr11:32391968

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA016600

rs_587776577

14 SubmittersRCV000003675 RCV000003674 RCV000157584 RCV000489749 RCV001216104 RCV001290017 RCV001003818 RCV004547458

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
Leigh syndrome
GRACILE syndrome
Pili torti-deafness syndrome
Pili torti-deafness syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA118015

rs_121908576

18 SubmittersRCV000006544 RCV000195481 RCV000260660 RCV000576565 RCV000763069 RCV003472989

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

SNV
Germline

Chr2:218661846

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA118021

rs_121908577

7 SubmittersRCV000006545 RCV000779835 RCV001835622 RCV002243624 RCV002476937 RCV002512833

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

SNV
Germline

Chr5:53646371

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA118548

rs_104893898

8 SubmittersRCV000578296 RCV000735424 RCV002298437 RCV002307359

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

No Assertion Criteria Provided

CA118762

rs_74315518

1 SubmittersRCV000007823

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 1 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 1 deficiency, nuclear type 3
Condition: not provided
Leigh syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA118993

rs_104894705

10 SubmittersRCV000008120 RCV000197296 RCV003155020

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

SNV
Germline

Chr19:1386644

Likely pathogenic

Mitochondrial complex 1 deficiency, nuclear type 3
Leigh syndrome

Criteria Provided
Single Submitter

rs_1568985256

2 SubmittersRCV000008122 RCV002265550

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

SNV
Germline

Chr5:251100

Conflicting classifications of pathogenicity

Mitochondrial complex II deficiency, nuclear type 1
Paragangliomas 5
Mitochondrial complex II deficiency, nuclear type 1
Leigh syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Diffuse midline glioma, H3 K27-altered
Dilated cardiomyopathy 1GG

Criteria Provided
Conflicting Classifications

CA119879

rs_9809219

8 SubmittersRCV000009281 RCV000456631 RCV000790927 RCV000573113 RCV001818148 RCV003315222 RCV003473060

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

SNV
Germline

Chr7:6002590

Pathogenic

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

Reviewed By Expert Panel

CA012083

rs_63750871

19 SubmittersRCV000076872 RCV000009815 RCV000115695 RCV000524474 RCV000212842 RCV000576870 RCV001196700 RCV001310204 RCV003162222

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

SNV
Germline

Chr7:5977629

Pathogenic

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

Reviewed By Expert Panel

CA011441

rs_63751466

15 SubmittersRCV000009818 RCV000129304 RCV000076858 RCV000413126 RCV000409056 RCV000524467 RCV001267876 RCV002265552 RCV001257544 RCV003415681

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

SNV
Germline

Chr7:5986883

Pathogenic

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

Reviewed By Expert Panel

CA010399

rs_63750451

16 SubmittersRCV000009823 RCV000076834 RCV000218575 RCV000220439 RCV000524451 RCV001193819

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

SNV
Germline

Chr7:6005918

Likely pathogenic

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

Reviewed By Expert Panel

CA009597

rs_121434629

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

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

SNV
Germline

Chr3:38579416

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA017028

rs_7626962

21 SubmittersRCV000009993 RCV000009992 RCV000041615 RCV000058563 RCV000204216 RCV000363449 RCV000274325 RCV000304064 RCV000621429 RCV000368908 RCV000396768 RCV000755696 RCV001841239 RCV001094834 RCV002504776 RCV003125829 RCV003149567

NC_012920.1(MT-ND1):m.1624C>T

SNV
Germline

ChrMT:1624

Pathogenic/Likely pathogenic

Leigh syndrome
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
LEIGH SYNDROME, MITOCHONDRIAL

Criteria Provided
Multiple Submitters
No Conflicts

CA120537

rs_199476144

4 SubmittersRCV000010158 RCV000850667 RCV004554592

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
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
MT-TK-related mitochondrial disorder
MT-TK-related disorder

Reviewed By Expert Panel

CA254836

rs_118192098

13 SubmittersRCV000010193 RCV000010192 RCV000010194 RCV000224965 RCV000495310 RCV000850950 RCV001729345 RCV003492290

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

SNV
Germline

ChrMT:8363

Likely pathogenic

Cardiomyopathy and Deafness
MERRF syndrome
Leigh syndrome
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
Mitochondrial disease

Reviewed By Expert Panel

CA120555

rs_118192100

5 SubmittersRCV000010197 RCV000192053 RCV000144004 RCV000850961 RCV003162232

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

SNV
Germline/somatic

ChrMT:3243

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA120560

rs_199474657

29 SubmittersRCV000010209 RCV000010211 RCV000010208 RCV000010210 RCV000010206 RCV000022901 RCV000022902 RCV000032997 RCV000143997 RCV000224855 RCV000495738 RCV000626561 RCV000763623 RCV002250458 RCV002285005 RCV002287327 RCV003325938 RCV003984803 RCV001794441 RCV004554593

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

SNV
Germline

ChrMT:8993

Pathogenic

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

Reviewed By Expert Panel

CA120596

rs_199476133

9 SubmittersRCV000010275 RCV000010276 RCV000754647 RCV000854390 RCV000495030 RCV001268873 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
Maternally-inherited spastic paraplegia
Mitochondrial disease
LEIGH SYNDROME, MITOCHONDRIAL

Reviewed By Expert Panel

CA120597

rs_199476135

11 SubmittersRCV000010278 RCV000010279 RCV000754652 RCV001027501 RCV001542707 RCV002251425 RCV002260585 RCV004554599

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

SNV
Germline

ChrMT:9185

Pathogenic

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

Reviewed By Expert Panel

CA340928

rs_199476138

12 SubmittersRCV000010282 RCV000240612 RCV000495689 RCV001267926 RCV000754648 RCV003224857 RCV001542709 RCV002267606

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

SNV
Germline

ChrMT:9176

Likely pathogenic

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

Reviewed By Expert Panel

CA340929

rs_199476135

6 SubmittersRCV000010285 RCV001542708 RCV000754649 RCV002221473 RCV001543462

NC_012920.1(MT-CO3):m.9804G>A

SNV
Germline

ChrMT:9804

Conflicting classifications of pathogenicity

Leber optic atrophy
Condition: not provided
Leigh syndrome
See cases
not specified

Criteria Provided
Conflicting Classifications

CA340930

rs_200613617

7 SubmittersRCV000010287 RCV000756352 RCV000854582 RCV001196020 RCV004017233

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

Pathogenic

Mitochondrial encephalomyopathy
Leigh syndrome

Criteria Provided
Single Submitter

CA120618

rs_207459999

2 SubmittersRCV000010318 RCV000855252

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

SNV
Germline

ChrMT:14484

Pathogenic

Leber optic atrophy
Leigh syndrome
Condition: not provided
Mitochondrial disease

Reviewed By Expert Panel

CA340932

rs_199476104

11 SubmittersRCV000010325 RCV000144018 RCV000223709 RCV003162238

NC_012920.1(MT-ND6):m.14459G>A

SNV
Germline

ChrMT:14459

Pathogenic

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

Reviewed By Expert Panel

CA120625

rs_199476105

7 SubmittersRCV000010327 RCV000010326 RCV000010328 RCV000144019 RCV001796715

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

SNV
Germline

ChrMT:14453

Likely pathogenic

Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
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 due to mitochondrial complex I deficiency
Leigh syndrome
Leber optic atrophy
Mitochondrial disease

Reviewed By Expert Panel

CA120627

rs_199476109

5 SubmittersRCV000010334 RCV000010333 RCV000144020 RCV002247307 RCV003162239

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

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

m.13045A>C

SNV
Germline

ChrMT:13045

Pathogenic

Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
Leber optic atrophy
Leigh syndrome due to mitochondrial complex I deficiency

No Assertion Criteria Provided

CA120629

rs_267606895

1 SubmittersRCV000010340 RCV000010341 RCV000010342

m.13084A>T

SNV
Germline

ChrMT:13084

Pathogenic

Leigh syndrome due to mitochondrial complex I deficiency
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke

No Assertion Criteria Provided

CA120631

rs_267606896

2 SubmittersRCV000010343 RCV000010344

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

SNV
Germline

ChrMT:13513

Pathogenic

Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
Leigh syndrome due to mitochondrial complex I deficiency
Leigh syndrome
Condition: not provided
Mitochondrial disease

Reviewed By Expert Panel

CA120632

rs_267606897

10 SubmittersRCV000010345 RCV000010346 RCV000144016 RCV000224472 RCV000494941

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

SNV
Germline

ChrMT:13042

Likely pathogenic

Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
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
Leigh syndrome
Leber optic atrophy
Mitochondrial disease

Reviewed By Expert Panel

CA120636

rs_28384199

4 SubmittersRCV000010357 RCV000144013 RCV000854746 RCV002260594

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

SNV
Germline

ChrMT:10191

Pathogenic

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

Reviewed By Expert Panel

CA120637

rs_267606890

5 SubmittersRCV000010358 RCV000144010 RCV001542636 RCV002291212

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

SNV
Germline

ChrMT:10158

Pathogenic

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

Reviewed By Expert Panel

CA120639

rs_199476117

6 SubmittersRCV000010360 RCV000144009 RCV000224598 RCV001796716

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

SNV
Germline

ChrMT:10197

Pathogenic

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

Reviewed By Expert Panel

CA120640

rs_267606891

9 SubmittersRCV000010362 RCV000010363 RCV000144011 RCV000507278 RCV004017234 RCV002247309 RCV002285008 RCV002291213

NC_012920.1(MT-ND2):m.4681T>C

SNV
Germline

ChrMT:4681

Pathogenic

Leigh syndrome due to mitochondrial complex I deficiency
Leigh syndrome

No Assertion Criteria Provided

CA120644

rs_267606889

2 SubmittersRCV000010369 RCV000144022

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

SNV
Germline

ChrMT:3460

Pathogenic

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

Reviewed By Expert Panel

CA120646

rs_199476118

8 SubmittersRCV000010370 RCV000143998 RCV000735416 RCV000757484 RCV003319165

NC_012920.1(MT-ND1):m.3394T>C

SNV
Germline

ChrMT:3394

Conflicting classifications of pathogenicity

Leber optic atrophy
Condition: not provided
Leigh syndrome

Criteria Provided
Conflicting Classifications

CA340944

rs_41460449

3 SubmittersRCV000010375 RCV000507319 RCV000853650

NC_012920.1(MT-ND1):m.3946G>A

SNV
Germline

ChrMT:3946

Pathogenic/Likely pathogenic

Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
Leigh syndrome
Leber optic atrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA254862

rs_199476123

6 SubmittersRCV000010387 RCV000853718 RCV001542704

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA255723

rs_132630269

5 SubmittersRCV000011865 RCV002243636 RCV001563489 RCV003764557

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

SNV
Germline

ChrX:48683953

Pathogenic

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA255728

rs_132630273

7 SubmittersRCV000011872 RCV000851684 RCV001037597 RCV001172206

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

SNV
Germline

ChrX:48688331

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA280988

rs_132630274

3 SubmittersRCV000011874 RCV001851800 RCV001291553

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

SNV
Germline

ChrX:48686780

Pathogenic

Wiskott-Aldrich syndrome

No Assertion Criteria Provided

rs_1602178087

1 SubmittersRCV000011880

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

SNV
Germline

ChrX:48686136

Pathogenic

Wiskott-Aldrich syndrome

No Assertion Criteria Provided

rs_1602177733

1 SubmittersRCV000011881

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

SNV
Germline

Chr19:55151892

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA021957

rs_104894729

10 SubmittersRCV000013237 RCV000157534 RCV000159242 RCV000154212 RCV000619328 RCV000629012 RCV000852483 RCV003388566 RCV003147282

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

SNV
Germline

Chr19:55154146

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA021667

rs_104894724

18 SubmittersRCV000013239 RCV000159222 RCV000498333 RCV001254730 RCV001787387 RCV001170617 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

Criteria Provided
Multiple Submitters
No Conflicts

CA122692

rs_121918657

5 SubmittersRCV000013599 RCV000589222 RCV000599426 RCV003314553

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

Malignant hyperthermia, susceptibility to, 1
Condition: not provided
RYR1-related disorder
Inborn genetic diseases
Malignant hyperthermia of anesthesia
enflurane response - Toxicity
succinylcholine response - Toxicity
halothane response - Toxicity
isoflurane response - Toxicity
methoxyflurane response - Toxicity
sevoflurane response - Toxicity
desflurane 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

Reviewed By Expert Panel

CA024311

rs_118192172

27 SubmittersRCV000013830 RCV000119586 RCV000538121 RCV000624176 RCV000608635 RCV001787389 RCV001787394 RCV001787390 RCV001787391 RCV001787392 RCV001787393 RCV001787388 RCV002496349

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
desflurane response - Toxicity
enflurane response - Toxicity
halothane response - Toxicity
isoflurane response - Toxicity
methoxyflurane response - Toxicity
succinylcholine 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

Reviewed By Expert Panel

CA024784

rs_28933397

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

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

SNV
Germline

Chr19:38496283

Pathogenic

Malignant hyperthermia, susceptibility to, 1
Condition: not provided
Ptosis
Absence of the sacrum
History of neonatal hypotonia
Malignant hyperthermia of anesthesia
RYR1-related disorder
King Denborough syndrome
Malignant hyperthermia, susceptibility to

Reviewed By Expert Panel

CA024622

rs_118192177

20 SubmittersRCV000013846 RCV000119662 RCV000162149 RCV000606881 RCV000655558 RCV001729348 RCV004556715

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
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1
Congenital myopathy with fiber type disproportion
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
Central core myopathy
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA024392

rs_118192173

15 SubmittersRCV000013860 RCV000119608 RCV000655512 RCV001199051 RCV002496350 RCV003447473 RCV003996093

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

SNV
Germline

Chr19:38499961

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA024732

rs_118192174

10 SubmittersRCV000013861 RCV000415169 RCV001851835 RCV000119694 RCV001197410 RCV002504782 RCV003996094 RCV004017243

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

SNV
Germline/somatic

Chr3:179234297

Pathogenic

Breast adenocarcinoma
OVARIAN CANCER, EPITHELIAL, SOMATIC
Carcinoma of colon
Hepatocellular carcinoma
Non-small cell lung carcinoma
Seborrheic keratosis
CLOVES syndrome
Neoplasm of ovary
PIK3CA related overgrowth syndrome
Malignant melanoma of skin
Ovarian serous cystadenocarcinoma
Neoplasm of uterine cervix
Pancreatic adenocarcinoma
Brainstem glioma
Squamous cell lung carcinoma
Medulloblastoma
Lung adenocarcinoma
Neoplasm of the large intestine
Transitional cell carcinoma of the bladder
Uterine carcinosarcoma
Adrenal cortex carcinoma
Malignant neoplasm of body of uterus
Glioblastoma
Neoplasm of brain
Papillary renal cell carcinoma type 1
Carcinoma of esophagus
Breast neoplasm
Neoplasm
Squamous cell carcinoma of the head and neck
Gastric adenocarcinoma
Prostate adenocarcinoma
Rosette-forming glioneuronal tumor
MACRODACTYLY, SOMATIC
Condition: not provided
Lip and oral cavity carcinoma
Abnormal cardiovascular system morphology
Congenital macrodactylia
Megalencephaly-capillary malformation-polymicrogyria syndrome
Segmental undergrowth associated with mainly venous malformation with capillary component
Segmental undergrowth associated with lymphatic malformation
CEREBRAL CAVERNOUS MALFORMATIONS 4, SOMATIC
CLAPO syndrome
Cerebrofacial Vascular Metameric Syndrome (CVMS)
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
Breast carcinoma
Gastric cancer
Klippel-Trenaunay-like-Syndrome
Rare venous malformation
Rare combined vascular malformation

Reviewed By Expert Panel

CA123326

rs_121913279

27 SubmittersRCV000014622 RCV000014623 RCV000014624 RCV000014626 RCV000014627 RCV000014628 RCV000024621 RCV000154516 RCV000201231 RCV000419938 RCV000432506 RCV000442164 RCV000420562 RCV000426498 RCV000426614 RCV000421855 RCV000422442 RCV000437153 RCV000428372 RCV000425956 RCV000431232 RCV000430589 RCV000442731 RCV000432543 RCV000433127 RCV000437782 RCV000436234 RCV000438435 RCV000437287 RCV000443546 RCV000442736 RCV000487449 RCV000709691 RCV001092442 RCV001255686 RCV001327968 RCV001526648 RCV001807727 RCV001705589 RCV001705590 RCV001728091 RCV001729349 RCV001730472 RCV001836707 RCV003128082 RCV002508124 RCV003325939 RCV004527290 RCV004527291

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

SNV
Germline/somatic

Chr3:179234297

Pathogenic

Breast adenocarcinoma
CLOVES syndrome
PIK3CA related overgrowth syndrome
Pancreatic adenocarcinoma
Transitional cell carcinoma of the bladder
Uterine carcinosarcoma
Neoplasm of the large intestine
Neoplasm of uterine cervix
Breast neoplasm
Gastric adenocarcinoma
Medulloblastoma
Prostate adenocarcinoma
Squamous cell lung carcinoma
Papillary renal cell carcinoma type 1
Neoplasm of ovary
Malignant melanoma of skin
Brainstem glioma
Malignant neoplasm of body of uterus
Neoplasm of brain
Ovarian serous cystadenocarcinoma
Lung adenocarcinoma
Squamous cell carcinoma of the head and neck
Hepatocellular carcinoma
Carcinoma of esophagus
Non-small cell lung carcinoma
Adrenal cortex carcinoma
Glioblastoma
CLAPO syndrome
Stroke disorder
Macrodactyly of toe
Cowden syndrome 1
Hemihypertrophy
Megalencephaly-capillary malformation-polymicrogyria syndrome
Colorectal cancer
CEREBRAL CAVERNOUS MALFORMATIONS 4, SOMATIC
Condition: not provided
Cavernous lymphangioma

Criteria Provided
Multiple Submitters
No Conflicts

CA123328

rs_121913279

12 SubmittersRCV000014629 RCV000032905 RCV000201235 RCV000417557 RCV000429614 RCV000433765 RCV000438270 RCV000439524 RCV000440269 RCV000443341 RCV000418190 RCV000418315 RCV000423706 RCV000425496 RCV000422323 RCV000424813 RCV000442340 RCV000434874 RCV000443510 RCV000435425 RCV000435543 RCV000423048 RCV000427278 RCV000427664 RCV000428229 RCV000428866 RCV000434398 RCV000709692 RCV000626894 RCV000987367 RCV001526597 RCV001253236 RCV001807728 RCV001728092 RCV002254265 RCV004527292

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

SNV
Germline/somatic

Chr3:179218303

Pathogenic/Likely pathogenic

Breast adenocarcinoma
OVARIAN CANCER, EPITHELIAL, SOMATIC
Carcinoma of colon
Seborrheic keratosis
Non-small cell lung carcinoma
Megalencephaly-capillary malformation-polymicrogyria syndrome
Sarcoma
Squamous cell carcinoma of the head and neck
Papillary renal cell carcinoma type 1
Neoplasm of ovary
Ovarian serous cystadenocarcinoma
Small cell lung carcinoma
Glioblastoma
Gastric adenocarcinoma
Uterine carcinosarcoma
Squamous cell lung carcinoma
Prostate adenocarcinoma
Pancreatic adenocarcinoma
Carcinoma of esophagus
Transitional cell carcinoma of the bladder
Nasopharyngeal neoplasm
Hepatocellular carcinoma
Malignant neoplasm of body of uterus
Neoplasm of uterine cervix
Gallbladder carcinoma
Neoplasm of the large intestine
Breast neoplasm
Malignant melanoma of skin
Papillary renal cell carcinoma, sporadic
Brainstem glioma
Lung adenocarcinoma
Neoplasm of brain
Condition: not provided
CLOVES syndrome
PIK3CA related overgrowth syndrome
Segmental undergrowth associated with lymphatic malformation
Gallbladder cancer
Abnormal cardiovascular system morphology
Eccrine Angiomatous Hamartoma
Cerebrofacial Vascular Metameric Syndrome (CVMS)
HEMIFACIAL MYOHYPERPLASIA, SOMATIC
Gastric cancer
Angioosteohypertrophic syndrome
Rare venous malformation
Rare combined vascular malformation

Criteria Provided
Multiple Submitters
No Conflicts

CA123334

rs_104886003

19 SubmittersRCV000014631 RCV000014632 RCV000014633 RCV000014636 RCV000038671 RCV000055930 RCV000119356 RCV000421583 RCV000421958 RCV000422210 RCV000426520 RCV000433976 RCV000438445 RCV000440694 RCV000441866 RCV000418058 RCV000417835 RCV000420851 RCV000423327 RCV000427202 RCV000428639 RCV000437876 RCV000425490 RCV000429391 RCV000438060 RCV000438587 RCV000431416 RCV000432636 RCV000433152 RCV000441949 RCV000440053 RCV000442569 RCV001092440 RCV001262721 RCV001290591 RCV001705591 RCV001374447 RCV001327963 RCV001786329 RCV001730473 RCV003764575 RCV002508125 RCV004527293 RCV004527294 RCV004527295

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

SNV
Somatic

Chr3:179218304

Pathogenic

Epidermal nevus
Carcinoma of colon
Lung adenocarcinoma
Transitional cell carcinoma of the bladder
Carcinoma of esophagus
Papillary renal cell carcinoma type 1
Breast neoplasm
Gastric adenocarcinoma
Squamous cell lung carcinoma
Glioblastoma
Pancreatic adenocarcinoma
Papillary renal cell carcinoma, sporadic
Melanoma
Nasopharyngeal neoplasm
Prostate adenocarcinoma
Malignant neoplasm of body of uterus
Squamous cell carcinoma of the head and neck
Neoplasm of the large intestine
Small cell lung carcinoma
Neoplasm of uterine cervix
Malignant melanoma of skin
Gallbladder carcinoma
Neoplasm of brain
Ovarian serous cystadenocarcinoma
Hepatocellular carcinoma
Brainstem glioma
Uterine carcinosarcoma
PIK3CA related overgrowth syndrome

Criteria Provided
Single Submitter

CA123336

rs_121913274

3 SubmittersRCV000014638 RCV000014637 RCV000418099 RCV000418752 RCV000419402 RCV000423395 RCV000427900 RCV000427099 RCV000429420 RCV000429663 RCV000434718 RCV000434929 RCV000433665 RCV000422071 RCV000435973 RCV000439693 RCV000424828 RCV000438613 RCV000440826 RCV000443425 RCV000439270 RCV000418146 RCV000418281 RCV000442411 RCV000424637 RCV000429485 RCV000433644 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
Malignant tumor of prostate
PIK3CA related overgrowth syndrome
Prostate adenocarcinoma
Malignant melanoma of skin
Neoplasm of ovary
Squamous cell carcinoma of the head and neck
Gastric adenocarcinoma
Neoplasm of the large intestine
Transitional cell carcinoma of the bladder
Neoplasm of brain
Malignant neoplasm of body of uterus
Glioblastoma
Uterine carcinosarcoma
Medulloblastoma
Breast neoplasm
Neoplasm of uterine cervix
Lung carcinoma
Condition: not provided
Segmental undergrowth associated with mainly venous malformation with capillary component

Criteria Provided
Conflicting Classifications

CA123338

rs_121913286

8 SubmittersRCV000014640 RCV000014639 RCV000205164 RCV000201230 RCV000425454 RCV000430641 RCV000436582 RCV000442123 RCV000442141 RCV000424106 RCV000426539 RCV000431780 RCV000431921 RCV000419967 RCV000436763 RCV000421680 RCV000441825 RCV000443162 RCV000430236 RCV001762046 RCV001705592

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

SNV
Germline

Chr11:67612225

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA123735

rs_121913659

11 SubmittersRCV000015100 RCV000200093 RCV000763271 RCV000735412 RCV002468969

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

SNV
Germline

Chr11:67608571

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA082750

rs_768050261

6 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 1 deficiency, nuclear type 4
Condition: not provided
Leigh syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA123737

rs_121913660

5 SubmittersRCV000015102 RCV001331688 RCV001851864 RCV003155025

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

SNV
Germline

Chr11:67610510

Pathogenic

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

Criteria Provided
Conflicting Classifications

CA126256

rs_121913125

5 SubmittersRCV000017574 RCV000703382 RCV001787803 RCV003133118

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

SNV
Germline

Chr3:36996633

Pathogenic

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

Reviewed By Expert Panel

CA004973

rs_63751109

4 SubmittersRCV000018608 RCV000075169 RCV001269530 RCV002381257

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

SNV
Germline

Chr3:37020411

Pathogenic

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

Reviewed By Expert Panel

CA013465

rs_63750710

4 SubmittersRCV000215121 RCV000018614 RCV000075954

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

SNV
Germline/somatic

Chr3:37012098

Pathogenic

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

Reviewed By Expert Panel

CA011496

rs_63751615

23 SubmittersRCV000075801 RCV000115485 RCV000018616 RCV001093685 RCV001249951 RCV001267883 RCV000202205 RCV003149572 RCV000524311 RCV003137535

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

SNV
Germline

Chr3:36996701

Pathogenic

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

Reviewed By Expert Panel

CA008112

rs_63750206

4 SubmittersRCV000075475 RCV000018618 RCV001267885 RCV002415421

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

SNV
Germline/somatic

Chr3:37004444

Pathogenic

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

Reviewed By Expert Panel

CA009872

rs_63750781

27 SubmittersRCV000018626 RCV000075666 RCV000144599 RCV000160518 RCV000524293 RCV000570680 RCV001249927 RCV001353627 RCV003229801 RCV004584176

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

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

Reviewed By Expert Panel

CA012452

rs_63750691

7 SubmittersRCV000018631 RCV000075875 RCV000677880 RCV000704907 RCV001723579 RCV002408469

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

SNV
Germline

Chr3:37048955

Pathogenic

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

Reviewed By Expert Panel

CA008304

rs_63750217

24 SubmittersRCV000202172 RCV000018632 RCV000519240 RCV000213700 RCV000075495 RCV000524270 RCV001328323 RCV002288511 RCV000763105

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

SNV
Germline

Chr3:36996702

Pathogenic

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

Reviewed By Expert Panel

CA008188

rs_63749939

8 SubmittersRCV000075482 RCV000132445 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

rs_1467976097

3 SubmittersRCV000018652 RCV001851919

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

SNV
Germline

Chr21:45505281

Pathogenic

Knobloch syndrome

No Assertion Criteria Provided

rs_770631950

1 SubmittersRCV000018656

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

SNV
Germline

Chr3:37017508

Pathogenic

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

Reviewed By Expert Panel

CA012394

rs_63751194

22 SubmittersRCV000022502 RCV000075872 RCV000034802 RCV000220712 RCV000524317 RCV000677879 RCV001093673

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

Reviewed By Expert Panel

CA007237

rs_63750693

6 SubmittersRCV000022505 RCV000075389 RCV001804746 RCV001851995 RCV002408475

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

SNV
Germline

ChrX:48688403

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA281104

rs_387906717

8 SubmittersRCV000022859 RCV001058962 RCV001268500 RCV003407355

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

SNV
Germline

Chr2:174567902

Pathogenic

Wiskott-Aldrich syndrome 2

No Assertion Criteria Provided

rs_1574785867

1 SubmittersRCV000023193

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

SNV
Germline

Chr10:71362268

Pathogenic

H syndrome

Criteria Provided
Single Submitter

CA129561

rs_387907066

2 SubmittersRCV000023938

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
Neoplasm of ovary
Non-small cell lung carcinoma
Condition: not provided
Small cell lung carcinoma
Neoplasm of the large intestine
Squamous cell lung carcinoma
Transitional cell carcinoma of the bladder
Lung adenocarcinoma
Breast neoplasm
Carcinoma of esophagus
Malignant neoplasm of body of uterus
Gastric adenocarcinoma
Prostate adenocarcinoma
Neoplasm of brain
Glioblastoma
Squamous cell carcinoma of the head and neck
Neoplasm of uterine cervix
Papillary renal cell carcinoma, sporadic
Hepatocellular carcinoma
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
Cowden syndrome
PIK3CA-related overgrowth
PIK3CA-related disorder
PIK3CA related overgrowth syndrome
HEMIFACIAL MYOHYPERPLASIA, SOMATIC
Rare venous malformation

Reviewed By Expert Panel

CA333572

rs_121913273

17 SubmittersRCV000024622 RCV000151649 RCV000154513 RCV000416776 RCV000431000 RCV000431872 RCV000436932 RCV000438815 RCV000441707 RCV000442348 RCV000419905 RCV000420078 RCV000419440 RCV000426691 RCV000421639 RCV000433007 RCV000425548 RCV000430763 RCV000435811 RCV000445059 RCV000709693 RCV001255687 RCV001728093 RCV001327962 RCV001730477 RCV001836714 RCV002513230 RCV003987334 RCV004532404 RCV003458190 RCV003764635 RCV004527296

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

SNV
Germline/somatic

Chr3:179210192

Pathogenic

CLOVES syndrome
PIK3CA related overgrowth syndrome
Neoplasm of ovary
Squamous cell lung carcinoma
Prostate adenocarcinoma
Adenoid cystic carcinoma
Gastric adenocarcinoma
Malignant neoplasm of body of uterus
Breast neoplasm
Neoplasm of the large intestine
CLAPO syndrome
Abnormal cardiovascular system morphology
Capillary malformation
Segmental undergrowth associated with lymphatic malformation
Condition: not provided
Rare combined vascular malformation
Cowden syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA180900

rs_121913272

15 SubmittersRCV000024623 RCV000201232 RCV000154512 RCV000444813 RCV000423306 RCV000427443 RCV000434659 RCV000444019 RCV000433143 RCV000439612 RCV000709694 RCV001327960 RCV001526612 RCV001705599 RCV002054475 RCV004527297 RCV003588566

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

SNV
Germline/somatic

Chr3:37025979

Pathogenic

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

Reviewed By Expert Panel

CA005183

rs_63750540

17 SubmittersRCV000030213 RCV000202201 RCV000132422 RCV000659871 RCV000763102 RCV000524235 RCV001804748 RCV001249929

NM_000249.4(MLH1):c.1896+17T>C

SNV
Germline

Chr3:37047700

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA007393

rs_193922368

5 SubmittersRCV000030217 RCV000441911 RCV000581070 RCV002054504 RCV003149580

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

SNV
Germline

Chr3:37048557

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA007678

rs_35045067

14 SubmittersRCV000131964 RCV000524258 RCV000587551 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

Criteria Provided
Conflicting Classifications

CA009110

rs_148317871

13 SubmittersRCV000030221 RCV000160545 RCV000411992 RCV000524281 RCV000573289 RCV000767194

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

SNV
Germline/somatic

Chr3:37001045

Pathogenic

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

Reviewed By Expert Panel

CA009575

rs_63751221

18 SubmittersRCV000030223 RCV000220956 RCV000576742 RCV000524287 RCV000569466 RCV001250008

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

SNV
Germline

Chr3:37008813

Pathogenic

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

Reviewed By Expert Panel

CA010570

rs_193922370

7 SubmittersRCV000018611 RCV000030226 RCV001067834 RCV001725119 RCV001804749

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
Lynch syndrome 1

Reviewed By Expert Panel

CA016912

rs_63750245

7 SubmittersRCV000030234 RCV000759091 RCV001009753 RCV001224622 RCV003450651

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

SNV
Germline/somatic

Chr2:47476399

Pathogenic

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

Reviewed By Expert Panel

CA019872

rs_63749932

20 SubmittersRCV000030248 RCV000115515 RCV000202174 RCV000576755 RCV001250040 RCV000524372 RCV000677886 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

Criteria Provided
Conflicting Classifications

CA021148

rs_193922374

6 SubmittersRCV000030254 RCV000212584 RCV000115531 RCV001079015

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
Breast carcinoma
Hereditary nonpolyposis colon cancer

Reviewed By Expert Panel

CA022585

rs_193922376

30 SubmittersRCV000001844 RCV000030256 RCV000115549 RCV000201997 RCV000524424 RCV001249912 RCV001353565 RCV001579303 RCV001731319

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

SNV
Germline

Chr2:47798958

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA016697

rs_193922345

5 SubmittersRCV000030278 RCV000423476 RCV000805479 RCV002256010

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

Criteria Provided
Multiple Submitters
No Conflicts

CA342897

rs_193922415

4 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
Thrombocytopenia 1
Wiskott-Aldrich syndrome
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
Cowden syndrome 5
Abnormal cardiovascular system morphology
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
PIK3CA related overgrowth syndrome
Cowden syndrome
Angioosteohypertrophic syndrome
Abnormal cerebral morphology

Reviewed By Expert Panel

CA130467

rs_587776932

15 SubmittersRCV000032907 RCV000414672 RCV001594376 RCV001327966 RCV001836717 RCV003233078 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
PIK3CA-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA130469

rs_397514565

7 SubmittersRCV000032908 RCV000201233 RCV000806643 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
Gastric adenocarcinoma
Lung adenocarcinoma
Ovarian serous cystadenocarcinoma
Neoplasm of the large intestine
Adrenal cortex carcinoma
Malignant neoplasm of body of uterus
Squamous cell lung carcinoma
Malignant melanoma of skin
Brainstem glioma
Squamous cell carcinoma of the head and neck
Pancreatic adenocarcinoma
Hepatocellular carcinoma
Malignant tumor of floor of mouth
Glioblastoma
Transitional cell carcinoma of the bladder
Cowden syndrome
Medulloblastoma
Prostate adenocarcinoma
Neoplasm of brain
Carcinoma of esophagus
Uterine carcinosarcoma
Neoplasm of uterine cervix
Breast neoplasm
Papillary renal cell carcinoma type 1
13 conditions
Condition: not provided
Segmental undergrowth associated with mainly venous malformation with capillary component
CLOVES syndrome
PIK3CA related overgrowth syndrome
HEMIFACIAL MYOHYPERPLASIA, SOMATIC

Criteria Provided
Multiple Submitters
No Conflicts

CA130471

rs_121913281

13 SubmittersRCV000032909 RCV000038675 RCV000425119 RCV000432323 RCV000436090 RCV000441963 RCV000444680 RCV000423369 RCV000425540 RCV000425809 RCV000435399 RCV000440398 RCV000441716 RCV000418438 RCV000420550 RCV000428005 RCV000435124 RCV000698423 RCV000417782 RCV000422744 RCV000424877 RCV000430750 RCV000432906 RCV000433635 RCV000441028 RCV000442782 RCV000763508 RCV001092441 RCV001705625 RCV002226661 RCV003233079 RCV003882732

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
Intellectual disability
PIK3R2-related disorder

Reviewed By Expert Panel

CA130573

rs_587776934

26 SubmittersRCV000033029 RCV000190661 RCV000416575 RCV000366413 RCV001836718 RCV001849288 RCV001526656 RCV003914893

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

SNV
Germline

Chr15:65021533

Pathogenic

Combined oxidative phosphorylation defect type 15
Leigh syndrome
6 conditions
Condition: not provided
Mitochondrial complex 1 deficiency, nuclear type 27
Inborn genetic diseases
See cases
Combined oxidative phosphorylation defect type 15
Mitochondrial complex 1 deficiency, nuclear type 27

Criteria Provided
Multiple Submitters
No Conflicts

CA130599

rs_201431517

17 SubmittersRCV000033047 RCV000190888 RCV000415235 RCV000320667 RCV000735417 RCV002513312 RCV002251943 RCV002477042

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

Criteria Provided
Conflicting Classifications

CA009344

rs_3136334

13 SubmittersRCV000034494 RCV000074692 RCV000128867 RCV000121577 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

Criteria Provided
Conflicting Classifications

CA010704

rs_149945495

15 SubmittersRCV000034496 RCV000115393 RCV000235185 RCV000410628 RCV001080247 RCV003492327

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

SNV
Germline

Chr2:47471051

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA019161

rs_201118107

16 SubmittersRCV000034553 RCV000076263 RCV000115510 RCV000148636 RCV000765667 RCV001079601 RCV002265576 RCV001354468 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
Lynch syndrome
Colorectal cancer, non-polyposis
not specified
Lynch syndrome 1
Lynch syndrome 1
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Hereditary nonpolyposis colorectal neoplasms
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA019304

rs_41295288

23 SubmittersRCV000034554 RCV000115511 RCV000076286 RCV000148641 RCV000200985 RCV000659882 RCV000765668 RCV001081309 RCV003149607

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 nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary nonpolyposis colon cancer
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA020577

rs_202145681

14 SubmittersRCV000034556 RCV000121564 RCV000129519 RCV001080801 RCV001093691 RCV001787035 RCV001030484 RCV001356651 RCV004534720

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

25 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
Hereditary cancer-predisposing syndrome
Lynch syndrome
Lynch syndrome 4
Mismatch repair cancer syndrome 1
Lynch syndrome 4
not specified
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA010907

rs_201671325

26 SubmittersRCV000034624 RCV000115676 RCV000199450 RCV000515268 RCV000411225 RCV000417397 RCV001081398 RCV003492332 RCV001798066

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
Mismatch repair cancer syndrome 1
Lynch syndrome 4
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Breast and/or ovarian cancer
PMS2-related disorder

Criteria Provided
Conflicting Classifications

CA012293

rs_201343342

18 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
Lynch syndrome 4
Hereditary nonpolyposis colorectal neoplasms
Breast and/or ovarian cancer
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA012331

rs_375289386

16 SubmittersRCV000034631 RCV000132453 RCV000221255 RCV000662753 RCV001080249 RCV001798067 RCV003996173

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

SNV
Germline

Chr7:5997421

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA012634

rs_201395630

10 SubmittersRCV000034634 RCV000165656 RCV000231924 RCV000412437 RCV001290448

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
Hereditary nonpolyposis colorectal neoplasms
Breast and/or ovarian cancer
PMS2-related disorder

Criteria Provided
Conflicting Classifications

CA013092

rs_146176004

19 SubmittersRCV000034637 RCV000115707 RCV000121855 RCV000123093 RCV000786854 RCV001082141 RCV003492334 RCV003891470

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

18 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
Wilms tumor 1
Frasier syndrome
Drash syndrome
11p partial monosomy syndrome
WT1-related disorder
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA016364

rs_142059681

7 SubmittersRCV000034780 RCV000122312 RCV000709139 RCV001081983 RCV004549406 RCV002255123

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_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

9 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
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer
Mismatch repair cancer syndrome 3
Lynch syndrome 5
Endometrial carcinoma
Endometrial carcinoma
Breast and/or ovarian cancer
MSH6-related disorder

Reviewed By Expert Panel

CA015060

rs_267608094

25 SubmittersRCV000035325 RCV000131743 RCV000202305 RCV000410467 RCV000524203 RCV001824584 RCV002490471 RCV003460548 RCV003492340 RCV004528168

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

SNV
Germline/somatic

Chr11:47347856

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA015883

rs_397516073

24 SubmittersRCV000158313 RCV000168401 RCV000249601 RCV000845451 RCV001176299 RCV001787823 RCV001375643 RCV002288533 RCV001807754 RCV004549435

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

SNV
Germline/somatic

Chr3:179210186

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA136365

rs_397517199

4 SubmittersRCV000038669 RCV001256198 RCV003458192 RCV004534818

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

SNV
Somatic

Chr3:179218307

Pathogenic

Neoplasm of ovary
Neoplasm of uterine cervix
Uterine carcinosarcoma
Breast neoplasm
Medulloblastoma
Neoplasm of the large intestine
Gastric adenocarcinoma
Malignant melanoma of skin
Neoplasm of brain
Malignant neoplasm of body of uterus
Transitional cell carcinoma of the bladder
Prostate adenocarcinoma
Squamous cell carcinoma of the head and neck
Glioblastoma
Abnormal cardiovascular system morphology
Condition: not provided
PIK3CA related overgrowth syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA136371

rs_397517201

6 SubmittersRCV000038672 RCV000417964 RCV000427826 RCV000439651 RCV000442332 RCV000422863 RCV000435640 RCV000440779 RCV000443308 RCV000423116 RCV000424486 RCV000434246 RCV000434598 RCV000433168 RCV001327965 RCV002254273 RCV003458193

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

SNV
Germline/somatic

Chr3:179234230

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA136374

rs_397517202

5 SubmittersRCV000038673 RCV001526503 RCV002254274 RCV003458194

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

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA023836

rs_193922837

14 SubmittersRCV000119410 RCV000535801 RCV000624604 RCV001249074 RCV001775081 RCV003997313 RCV002477304

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

SNV
Germline

Chr19:38500636

Likely pathogenic; drug response

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

Reviewed By Expert Panel

CA024770

rs_118192124

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

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

SNV
Germline

Chr19:38500898

Likely pathogenic

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

Reviewed By Expert Panel

CA024819

rs_118192178

12 SubmittersRCV000056228 RCV000119718 RCV000552166 RCV000624571 RCV001198416 RCV001814037 RCV001731347 RCV002281900

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

SNV
Germline

Chr19:38580090

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA024150

rs_118192180

5 SubmittersRCV000056232 RCV000119518 RCV001854163 RCV003996488 RCV004555852

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

SNV
Germline

Chr19:38584973

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA024220

rs_118192150

8 SubmittersRCV000056236 RCV000119545 RCV001046476 RCV002496742 RCV003996489

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

12 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

4 SubmittersRCV000057559 RCV000462343 RCV000505766

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

SNV
Germline

Chr11:2572885

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA008353

rs_199472728

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

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

SNV
Germline

Chr7:150948452

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA007147

rs_199473434

10 SubmittersRCV000058151 RCV000699702 RCV000988000 RCV001256913 RCV001588890 RCV004019008 RCV001841715

NM_000238.4(KCNH2):c.2860C>T (p.Arg954Cys)

SNV
Germline

Chr7:150947711

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA007528

rs_141401803

7 SubmittersRCV000058171 RCV000181898 RCV000588938 RCV000685653 RCV001841728

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.4892G>A (p.Arg1631His)

SNV
Germline

Chr3:38551477

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA018735

rs_199473286

11 SubmittersRCV000058723 RCV000519341 RCV001258072 RCV001530198 RCV001787861 RCV002336214 RCV003996546 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

Criteria Provided
Multiple Submitters
No Conflicts

CA019062

rs_199473631

4 SubmittersRCV000058760 RCV000183112 RCV001787862

NM_001190274.2(FBXO11):c.*1173A>T

SNV
Germline

Chr2:47806945

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA016549

rs_2020906

8 SubmittersRCV000202135 RCV000986755 RCV002256038 RCV002274909 RCV002514327 RCV003492396

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

SNV
Germline

Chr2:47783226

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA016627

rs_565211544

15 SubmittersRCV000131026 RCV000212613 RCV000412463 RCV001354724 RCV003997060 RCV000587581 RCV004537271

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

SNV
Germline/somatic

Chr2:47799065

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA007978

rs_63750440

10 SubmittersRCV000074629 RCV000409637 RCV000487116 RCV000567227 RCV000701439 RCV003466931

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

SNV
Germline

Chr2:47799092

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA008059

rs_587779204

13 SubmittersRCV000074633 RCV000162441 RCV000202023 RCV000524101 RCV000518839 RCV001201190 RCV003162468 RCV003450922

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

SNV
Germline

Chr2:47799116

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA008097

rs_587779205

8 SubmittersRCV000479933 RCV000569385 RCV001290538 RCV001358106 RCV003997062 RCV000629837 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

10 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
MSH6-related disorder
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA008371

rs_34014629

14 SubmittersRCV000131942 RCV000410444 RCV000422207 RCV000524105 RCV001354476 RCV001719808 RCV004542739 RCV003149716

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

SNV
Germline

Chr2:47799256

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA008413

rs_63749971

5 SubmittersRCV000570856 RCV001063935 RCV003466932 RCV003997064

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

Criteria Provided
Multiple Submitters
No Conflicts

CA008468

rs_63751405

6 SubmittersRCV000128873 RCV000791437 RCV000214282 RCV002288560 RCV003460660

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

SNV
Germline

Chr2:47799308

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA008493

rs_587779210

6 SubmittersRCV000213558 RCV000627712 RCV000568557 RCV003997065

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

SNV
Germline

Chr2:47799329

Pathogenic

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

Reviewed By Expert Panel

CA008516

rs_63750741

11 SubmittersRCV000074651 RCV000491070 RCV000627730 RCV000576688 RCV001804803 RCV003137604 RCV003466933

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

SNV
Germline/somatic

Chr2:47799385

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA008576

rs_369456858

13 SubmittersRCV000074653 RCV000222213 RCV000524109 RCV000587141 RCV000166488 RCV001535649 RCV003450925 RCV004528269 RCV004566916

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

Reviewed By Expert Panel

CA008614

rs_63750909

17 SubmittersRCV000074656 RCV000215386 RCV000410127 RCV000491001 RCV000524108 RCV001355905 RCV003128135

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

SNV
Germline

Chr2:47799457

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA008673

rs_61754783

12 SubmittersRCV000115374 RCV000212649 RCV000524111 RCV000587662 RCV001353728 RCV003997066

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

SNV
Germline

Chr2:47799460

Pathogenic

Lynch syndrome

Reviewed By Expert Panel

CA008679

rs_267608046

1 SubmittersRCV000074658

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

SNV
Germline/somatic

Chr2:47799466

Pathogenic

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

Reviewed By Expert Panel

CA008701

rs_587779212

23 SubmittersRCV000074659 RCV000131420 RCV000202276 RCV000524112 RCV001249984 RCV001353858 RCV003334381 RCV003460662

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

Criteria Provided
Conflicting Classifications

CA008795

rs_63751009

10 SubmittersRCV000219119 RCV000214996 RCV000556355 RCV000662803 RCV001194395 RCV003460663

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

SNV
Germline

Chr2:47799555

Pathogenic

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

Reviewed By Expert Panel

CA008805

rs_587779215

7 SubmittersRCV000074665 RCV000491949 RCV000798747 RCV002469003 RCV002266921 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
not specified
Hereditary nonpolyposis colorectal neoplasms
MSH6-related disorder

Criteria Provided
Conflicting Classifications

CA009071

rs_63749973

10 SubmittersRCV000131251 RCV000411714 RCV000212651 RCV001328467 RCV001080487 RCV004542740

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

SNV
Germline

Chr2:47799712

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA009088

rs_542838372

13 SubmittersRCV000115381 RCV000409690 RCV000491847 RCV000524118 RCV003235029 RCV003993789 RCV003997068 RCV003466935

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

SNV
Germline

Chr2:47799722

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA009108

rs_41295270

12 SubmittersRCV000131189 RCV000485534 RCV000524119 RCV001818236 RCV003466936 RCV002498356 RCV004019093

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

SNV
Germline/somatic

Chr2:47799737

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA009121

rs_587779220

11 SubmittersRCV000074683 RCV000491054 RCV001290557 RCV000219463 RCV003128136 RCV000791380 RCV003450930 RCV004537273

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

SNV
Germline

Chr2:47799818

Pathogenic

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

Reviewed By Expert Panel

CA009299

rs_63750564

4 SubmittersRCV000074690 RCV003593866 RCV002408572 RCV003450933

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

SNV
Germline

Chr2:47799840

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA009330

rs_63751121

7 SubmittersRCV000221704 RCV000132230 RCV000524122 RCV003460665 RCV003997069

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
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
MSH6-related disorder
Carcinoma of colon

Criteria Provided
Conflicting Classifications

CA009475

rs_34938432

14 SubmittersRCV000074697 RCV000166227 RCV000219792 RCV000409155 RCV001703971 RCV000524127 RCV004537274 RCV001355116

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

SNV
Germline

Chr2:47799989

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA009545

rs_555209664

10 SubmittersRCV000130794 RCV000507463 RCV000679222 RCV001083193 RCV003460666 RCV003997070

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
Endometrial carcinoma
Hereditary nonpolyposis colon cancer
not specified

Reviewed By Expert Panel

CA009620

rs_587779227

15 SubmittersRCV000074709 RCV000128865 RCV000212657 RCV000524130 RCV000576301 RCV001353773 RCV001526863 RCV000583928

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

Reviewed By Expert Panel

CA009627

rs_267608068

10 SubmittersRCV000074710 RCV000530716 RCV000162397 RCV000201965 RCV001353419 RCV002222379 RCV003450938

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

SNV
Germline

Chr2:47800063

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA009656

rs_587779228

3 SubmittersRCV000822642 RCV001186406 RCV003450940

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

SNV
Germline

Chr2:47800075

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA009674

rs_63750832

12 SubmittersRCV000480300 RCV000130187 RCV000662368 RCV000524131 RCV003320553 RCV003466939

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

SNV
Germline

Chr2:47800088

Pathogenic

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

Reviewed By Expert Panel

CA009686

rs_63751419

5 SubmittersRCV000074717 RCV001014449 RCV000629877 RCV002490669 RCV003450941

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

SNV
Germline

Chr2:47800100

Likely pathogenic

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

Reviewed By Expert Panel

CA009702

rs_587779231

7 SubmittersRCV000074718 RCV001530136 RCV003137606 RCV001854277 RCV003584540

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

SNV
Germline

Chr2:47800110

Pathogenic

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

Reviewed By Expert Panel

CA009710

rs_587779232

6 SubmittersRCV000074719 RCV000130308 RCV000690199 RCV003148645 RCV003460669 RCV003450942

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

SNV
Germline

Chr2:47800160

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA009822

rs_574358605

12 SubmittersRCV000568729 RCV000524133 RCV000662512 RCV001582560 RCV003997072 RCV003466941

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

SNV
Germline

Chr2:47800166

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA009828

rs_35552856

6 SubmittersRCV000221222 RCV000563245 RCV000688768 RCV000657127 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 cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer
Endometrial carcinoma
Lynch syndrome 5

Reviewed By Expert Panel

CA009856

rs_63751127

13 SubmittersRCV000074726 RCV000212661 RCV000132226 RCV000524134 RCV002281906 RCV003466942 RCV003450944

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

Reviewed By Expert Panel

CA010016

rs_63750138

16 SubmittersRCV000074732 RCV000162422 RCV000218399 RCV000524139 RCV001353694 RCV002467437 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.2408A>G (p.Asp803Gly)

SNV
Germline

Chr2:47800391

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA010206

rs_63751450

15 SubmittersRCV000148651 RCV000212666 RCV000410826 RCV000586083 RCV000130124 RCV001356592 RCV000524143 RCV003997077 RCV003466944

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

SNV
Germline

Chr2:47800486

Pathogenic

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

Reviewed By Expert Panel

CA010314

rs_63751321

6 SubmittersRCV000074750 RCV000218020 RCV000520652 RCV001223542 RCV001731360 RCV003450946

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

SNV
Germline

Chr2:47800544

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA010423

rs_34374438

19 SubmittersRCV000129191 RCV000148652 RCV000121574 RCV000986723 RCV001083699 RCV001353909 RCV003149719 RCV000585210 RCV004528270 RCV000764424 RCV001093694

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.2702G>A (p.Arg901His)

SNV
Germline

Chr2:47800685

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA010764

rs_63749889

6 SubmittersRCV000559913 RCV000570122 RCV001561918 RCV003460671 RCV003997081

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

Reviewed By Expert Panel

CA010815

rs_63751017

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

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

SNV
Germline

Chr2:47800747

Pathogenic

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

Reviewed By Expert Panel

CA010831

rs_587779246

15 SubmittersRCV000074779 RCV000491845 RCV001262897 RCV002267828 RCV002281907 RCV003162472 RCV003460672 RCV001056241 RCV001357595

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

SNV
Germline

Chr2:47800798

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Reviewed By Expert Panel

CA010943

rs_63750140

3 SubmittersRCV000074783 RCV000491935 RCV003450950

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

SNV
Germline

Chr2:47800889

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA011072

rs_63749919

5 SubmittersRCV000552775 RCV003477462 RCV003398659 RCV004528271 RCV002433573

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

SNV
Germline

Chr2:47800914

Pathogenic

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

Reviewed By Expert Panel

CA011115

rs_63750111

10 SubmittersRCV000074788 RCV000491868 RCV001008655 RCV001804805 RCV002514330 RCV003450952 RCV004566920

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

SNV
Germline

Chr2:47800966

Pathogenic

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

Reviewed By Expert Panel

CA011274

rs_63750258

7 SubmittersRCV000074793 RCV000491673 RCV001269505 RCV001062414 RCV001804806 RCV003450954

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

SNV
Germline

Chr2:47800996

Pathogenic

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

Reviewed By Expert Panel

CA011340

rs_63750563

21 SubmittersRCV000074795 RCV000202164 RCV000491215 RCV000624966 RCV000808924 RCV001263506 RCV003460674

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

SNV
Germline

Chr2:47801003

Pathogenic

Mismatch repair cancer syndrome 3
Lynch syndrome
Lynch syndrome 5
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA011367

rs_587779252

3 SubmittersRCV000009493 RCV000074796 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
Lynch syndrome 5

Reviewed By Expert Panel

CA011483

rs_267608059

6 SubmittersRCV000074801 RCV000491450 RCV000687014 RCV003450956

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

SNV
Germline

Chr2:47801086

Pathogenic

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

Reviewed By Expert Panel

CA011558

rs_63749999

23 SubmittersRCV000074803 RCV000223452 RCV000484829 RCV000524153 RCV001194362 RCV001355855 RCV002477211 RCV003162473 RCV003450957

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
Endometrial carcinoma
Lynch syndrome 5
Endometrial carcinoma
not specified

Criteria Provided
Conflicting Classifications

CA011694

rs_587779254

9 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
Hereditary nonpolyposis colon cancer
Condition: not provided
Lynch syndrome 5
Endometrial carcinoma

Reviewed By Expert Panel

CA011722

rs_587779255

8 SubmittersRCV000074809 RCV000565688 RCV000627710 RCV001194394 RCV003114239 RCV003450959 RCV003460678

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

SNV
Germline/somatic

Chr2:47803449

Pathogenic

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

Reviewed By Expert Panel

CA011916

rs_63749843

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

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
Endometrial carcinoma
Lynch syndrome
Inherited prostate cancer
Gastric cancer

Reviewed By Expert Panel

CA012063

rs_63750617

28 SubmittersRCV000074823 RCV000162445 RCV000254700 RCV000524159 RCV000709742 RCV000780464 RCV001356266 RCV001564011 RCV003492400 RCV003466947 RCV003997086 RCV004584185 RCV003162475

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

Criteria Provided
Conflicting Classifications

CA012135

rs_191109849

17 SubmittersRCV000074824 RCV000115409 RCV000121583 RCV000656898 RCV001358430 RCV004528272 RCV001085899 RCV001093655 RCV002288561

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

SNV
Germline

Chr2:47803506

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA012215

rs_63750998

10 SubmittersRCV000212679 RCV000131160 RCV001137558 RCV003153343 RCV001083021 RCV004537277

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

Criteria Provided
Conflicting Classifications

CA012243

rs_63750998

18 SubmittersRCV000148653 RCV000131245 RCV000212678 RCV000514075 RCV000764429 RCV001079820 RCV001262368 RCV003325179 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

Criteria Provided
Conflicting Classifications

CA012273

rs_63750753

11 SubmittersRCV000074829 RCV000160725 RCV000524164 RCV000586012 RCV000764430 RCV003149721

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

SNV
Germline

Chr2:47803531

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA012443

rs_63750253

10 SubmittersRCV000164048 RCV000433110 RCV000412287 RCV000524168 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
Condition: not provided
Malignant tumor of breast
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Lynch syndrome 5
MSH6-related disorder
Mismatch repair cancer syndrome 1
Lynch syndrome 5
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA012473

rs_63750442

17 SubmittersRCV000074836 RCV000218926 RCV000223174 RCV000587747 RCV001358521 RCV000524169 RCV003460680 RCV004019095 RCV004542742 RCV000764431

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

Criteria Provided
Conflicting Classifications

CA012724

rs_587779261

6 SubmittersRCV000524174 RCV000573399 RCV001800369 RCV003460682 RCV003997088

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

SNV
Germline

Chr2:47803662

Likely pathogenic

Lynch syndrome 5
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_63751063

2 SubmittersRCV003454113 RCV002452190

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

SNV
Germline

Chr2:47803672

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA012799

rs_267608089

14 SubmittersRCV000115415 RCV000212683 RCV000524175 RCV001357449 RCV002288562 RCV003460683 RCV003997089 RCV000656899

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

SNV
Germline

Chr2:47803683

Pathogenic

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

Reviewed By Expert Panel

CA012815

rs_63750356

5 SubmittersRCV000074849 RCV000561009 RCV000629768 RCV000657654 RCV003450966

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
Endometrial carcinoma
Mismatch repair cancer syndrome 3
Lynch syndrome 5
Lynch syndrome 5
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Hereditary nonpolyposis colon cancer

Reviewed By Expert Panel

CA012908

rs_587779263

15 SubmittersRCV000074858 RCV000215652 RCV000491481 RCV002483121 RCV003450968 RCV002272051 RCV000629776 RCV003460684 RCV003483460

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

SNV
Germline

Chr2:47804908

Likely pathogenic

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

Reviewed By Expert Panel

CA012917

rs_267608098

18 SubmittersRCV000074859 RCV000202159 RCV000524176 RCV000576575 RCV000130487 RCV001292865 RCV001353640 RCV001526853 RCV001798254

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

SNV
Germline

Chr2:47804940

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA012971

rs_587779264

7 SubmittersRCV000131534 RCV000202300 RCV002513797 RCV003450969 RCV004555853 RCV004584187 RCV002510780

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
Lynch syndrome 5
Endometrial carcinoma

Reviewed By Expert Panel

CA013109

rs_587779267

9 SubmittersRCV000074867 RCV000115417 RCV000491292 RCV000791426 RCV003450970 RCV003466948

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

SNV
Germline

Chr2:47804984

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA013188

rs_63749834

13 SubmittersRCV000163879 RCV000524179 RCV000662442 RCV001081095 RCV000433073 RCV003997091 RCV004542743

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

SNV
Germline

Chr2:47805624

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA013469

rs_587779272

7 SubmittersRCV000478227 RCV000685790 RCV003450973 RCV004566921 RCV000582224

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

SNV
Germline

Chr2:47805638

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA013478

rs_63751328

8 SubmittersRCV000166108 RCV000679239 RCV001302789 RCV003230394 RCV003450974 RCV003460687 RCV003997093

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
Endometrial carcinoma
Lynch syndrome 5
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA013519

rs_587779273

9 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
Condition: not provided
Lynch syndrome 5

Reviewed By Expert Panel

CA013645

rs_587779279

9 SubmittersRCV000074902 RCV000491917 RCV000791366 RCV001781398 RCV002467438

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

SNV
Germline

Chr2:47806202

Pathogenic

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

Reviewed By Expert Panel

CA013656

rs_267608111

7 SubmittersRCV000074903 RCV001531316 RCV002345375 RCV001854283 RCV003335091

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

SNV
Germline

Chr2:47806213

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA013759

rs_63750949

3 SubmittersRCV000572978 RCV001222841 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

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

Criteria Provided
Conflicting Classifications

CA013789

rs_587779282

9 SubmittersRCV000217680 RCV000574037 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
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 5
Lynch syndrome
MSH6-related disorder

Criteria Provided
Conflicting Classifications

CA014214

rs_375459388

12 SubmittersRCV000160699 RCV000212689 RCV000524187 RCV000587284 RCV000408995 RCV003997096 RCV004537280

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

SNV
Germline

Chr2:47806325

Pathogenic

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

Reviewed By Expert Panel

CA014232

rs_63751058

12 SubmittersRCV000074926 RCV000202271 RCV000491038 RCV000546623 RCV003450979 RCV003460691 RCV003483461

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

SNV
Germline

Chr2:47806329

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA014244

rs_63750554

2 SubmittersRCV000074927 RCV003593872

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

SNV
Germline

Chr2:47806344

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA014275

rs_367912290

10 SubmittersRCV000164843 RCV000485038 RCV000559935 RCV000659897 RCV003235031 RCV003460692

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.3851C>T (p.Thr1284Met)

SNV
Germline

Chr2:47806501

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA014580

rs_63750836

13 SubmittersRCV000131709 RCV000454725 RCV000662523 RCV000759868 RCV001082428 RCV001357732 RCV003448259 RCV003492403

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

SNV
Germline

Chr2:47806611

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA014874

rs_41295278

20 SubmittersRCV000074958 RCV000148646 RCV000202255 RCV000410058 RCV000115425 RCV001082577 RCV001355442 RCV000590664 RCV004528273

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

SNV
Germline

Chr2:47806653

Pathogenic

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

Reviewed By Expert Panel

CA015138

rs_267608131

5 SubmittersRCV000074969 RCV000491060 RCV003450986 RCV000812440 RCV002267832

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

SNV
Germline

Chr2:47806651

Pathogenic

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

Reviewed By Expert Panel

CA015202

rs_267608122

16 SubmittersRCV000074974 RCV000202090 RCV000542786 RCV000160701 RCV000491705 RCV000576708 RCV001355904

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

SNV
Germline

Chr2:47806769

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA015230

rs_545466048

18 SubmittersRCV000160702 RCV000590285 RCV001081736 RCV001357666 RCV002287361 RCV003149725 RCV000771079 RCV000986753 RCV004542745

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
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Reviewed By Expert Panel

CA015627

rs_267608035

4 SubmittersRCV000075000 RCV001190339 RCV003450988

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

SNV
Germline

Chr2:47795903

Pathogenic

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

Reviewed By Expert Panel

CA015662

rs_63749873

18 SubmittersRCV000075003 RCV000201956 RCV000524207 RCV000490955 RCV000576312 RCV000172813 RCV001357340 RCV003466952

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

SNV
Germline

Chr2:47796035

Pathogenic

Lynch syndrome

Reviewed By Expert Panel

CA015935

rs_63751077

1 SubmittersRCV000075008

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

3 SubmittersRCV000075015 RCV001071476 RCV003162479

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

SNV
Germline

Chr2:47798625

Pathogenic

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

Reviewed By Expert Panel

CA016086

rs_1800937

9 SubmittersRCV000075016 RCV000485263 RCV000703480 RCV001025256 RCV002477214 RCV003450990

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

Criteria Provided
Conflicting Classifications

CA016186

rs_41557217

23 SubmittersRCV000115440 RCV000121575 RCV000588752 RCV000659887 RCV001083709 RCV001353587 RCV001564013 RCV001798257 RCV003492405

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

SNV
Germline

Chr2:47798677

Pathogenic

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

Reviewed By Expert Panel

CA016261

rs_587779318

10 SubmittersRCV000075025 RCV000412800 RCV001383732 RCV002362703 RCV003450991 RCV003460700

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

Reviewed By Expert Panel

CA016325

rs_63750019

16 SubmittersRCV000075028 RCV000704209 RCV000220361 RCV001358367 RCV001310159 RCV002288564 RCV003460701 RCV000657653

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

SNV
Germline

Chr2:47798713

Pathogenic

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

Reviewed By Expert Panel

CA016353

rs_267608066

6 SubmittersRCV000075029 RCV000984323 RCV002381377 RCV002513799 RCV003144122

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

SNV
Germline

Chr2:47783306

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA016371

rs_267608026

14 SubmittersRCV000075031 RCV000115442 RCV000417385 RCV000524214 RCV000765674 RCV001082180 RCV003482130 RCV004528274

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

SNV
Germline

Chr2:47798725

Pathogenic

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

Reviewed By Expert Panel

CA016391

rs_63749980

15 SubmittersRCV000075032 RCV000486750 RCV000490932 RCV000524215 RCV001193103 RCV002288565 RCV003460702

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 nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA016429

rs_587779321

5 SubmittersRCV000506023 RCV000803732 RCV001026537 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

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

CA016470

rs_587779322

8 SubmittersRCV000568144 RCV000684794 RCV000759873 RCV002267836 RCV002504983 RCV003997104

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

SNV
Germline

Chr2:47798797

Pathogenic

Lynch syndrome
Lynch syndrome 5

Reviewed By Expert Panel

CA016485

rs_63750552

2 SubmittersRCV000075038 RCV003450994

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

SNV
Germline

Chr2:47798837

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA016543

rs_63750878

9 SubmittersRCV000160657 RCV000148648 RCV000212635 RCV000556949 RCV001174593 RCV003997105 RCV004566926

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

SNV
Germline

Chr2:47798867

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA016588

rs_267608051

16 SubmittersRCV000075042 RCV000115445 RCV000212636 RCV000410872 RCV000512927 RCV000524217

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

SNV
Germline

Chr2:47798875

Pathogenic

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

Reviewed By Expert Panel

CA016604

rs_146816935

14 SubmittersRCV000075043 RCV000130865 RCV000149892 RCV000551832 RCV003450996 RCV003466953

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

SNV
Germline

Chr3:37020438

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA004051

rs_63751467

18 SubmittersRCV000128912 RCV000148621 RCV000220791 RCV000524219 RCV000656860 RCV001356843 RCV003483462 RCV003997106 RCV000764485 RCV000987162

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

Reviewed By Expert Panel

CA004088

rs_267607816

5 SubmittersRCV000075082 RCV001093692 RCV002514334 RCV003450998 RCV001249908

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

SNV
Germline

Chr3:37020463

Pathogenic

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

Reviewed By Expert Panel

CA004100

rs_63751715

10 SubmittersRCV000075085 RCV000214854 RCV000506818 RCV000629976 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
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA004114

rs_267607819

10 SubmittersRCV000075088 RCV000153506 RCV001201713 RCV002390213 RCV003451000

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

SNV
Germline/somatic

Chr3:37025635

Likely pathogenic

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

Reviewed By Expert Panel

CA004118

rs_267607815

6 SubmittersRCV000075090 RCV002514335 RCV003137609 RCV003390766 RCV003441739

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

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

Reviewed By Expert Panel

CA004200

rs_63749906

5 SubmittersRCV000075100 RCV001269567 RCV001353714 RCV002399429 RCV003451002

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

SNV
Germline/somatic

Chr3:36993656

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA004328

rs_63751012

4 SubmittersRCV000075110 RCV001357016 RCV003451004 RCV000693918

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

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

Reviewed By Expert Panel

CA004399

rs_63750580

5 SubmittersRCV000075115 RCV000129232 RCV001034681 RCV001804811 RCV003451006

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

SNV
Germline

Chr3:36993660

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA004445

rs_587778888

2 SubmittersRCV000075118 RCV000688444

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

SNV
Germline

Chr3:36993661

Pathogenic

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

Reviewed By Expert Panel

CA004476

rs_267607706

5 SubmittersRCV000075121 RCV001176886 RCV001206557 RCV003451007

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

SNV
Germline

Chr3:37025751

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA004503

rs_63750760

14 SubmittersRCV000075124 RCV000202088 RCV000524225 RCV000490290 RCV000656862 RCV001030628 RCV000217569 RCV003149731 RCV003492407 RCV000764489

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

SNV
Germline

Chr3:36993664

Likely pathogenic

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

Reviewed By Expert Panel

CA004527

rs_267607709

7 SubmittersRCV000075127 RCV000709737 RCV001284001 RCV001294059 RCV002354257 RCV002514337

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

SNV
Germline

Chr3:36993668

Pathogenic

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

Reviewed By Expert Panel

CA004556

rs_267607710

7 SubmittersRCV000075129 RCV000413453 RCV000694368 RCV000776333 RCV001358274 RCV003451008

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

Reviewed By Expert Panel

CA004606

rs_587778894

4 SubmittersRCV000075144 RCV001034673 RCV002288566

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
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA004758

rs_267607713

3 SubmittersRCV000075155 RCV000255808 RCV003593875

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

SNV
Germline

Chr3:37025823

Pathogenic

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

Reviewed By Expert Panel

CA004765

rs_63751153

5 SubmittersRCV000075156 RCV000541219 RCV002362706 RCV003451013

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

SNV
Germline

Chr3:36996624

Pathogenic

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

Reviewed By Expert Panel

CA004780

rs_63751094

5 SubmittersRCV000675183 RCV001216631 RCV002362707 RCV003451014

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

Criteria Provided
Conflicting Classifications

CA004884

rs_63750791

12 SubmittersRCV000218731 RCV000524230 RCV000662538 RCV001355583 RCV001818238 RCV003997107

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

SNV
Germline

Chr3:37025874

Pathogenic

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

Reviewed By Expert Panel

CA004908

rs_63750316

8 SubmittersRCV000075164 RCV000571335 RCV000690382 RCV003129769

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

SNV
Germline

Chr3:37025925

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA004995

rs_34213726

6 SubmittersRCV000144608 RCV000219360 RCV001703974 RCV000697163 RCV003997108

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

SNV
Germline

Chr3:37026008

Likely pathogenic

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

Reviewed By Expert Panel

CA005246

rs_267607825

10 SubmittersRCV000075192 RCV000220831 RCV000524237 RCV000519388 RCV003451024

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

SNV
Germline

Chr3:37026008

Pathogenic

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

Reviewed By Expert Panel

CA005254

rs_267607825

5 SubmittersRCV000075193 RCV002390216 RCV002281908 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
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Conflicting Classifications

CA005399

rs_147939838

8 SubmittersRCV000075209 RCV000679267 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
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Breast and/or ovarian cancer

Reviewed By Expert Panel

CA005419

rs_587778913

8 SubmittersRCV000075212 RCV000219426 RCV001214512 RCV002390218 RCV003451027 RCV001270940

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

Reviewed By Expert Panel

CA005432

rs_587778914

3 SubmittersRCV000075213 RCV001069994 RCV003451028

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

SNV
Germline/somatic

Chr3:37028833

Pathogenic

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

Reviewed By Expert Panel

CA005475

rs_63749795

22 SubmittersRCV000075218 RCV000255034 RCV000128870 RCV000524240 RCV000763103 RCV001093677 RCV001249944 RCV001353584 RCV000662808

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

SNV
Germline

Chr3:37028834

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA005483

rs_587778917

10 SubmittersRCV000218037 RCV000480533 RCV000630048 RCV001257464 RCV003997113 RCV003492408

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

SNV
Germline

Chr3:37028836

Pathogenic

Lynch syndrome

Reviewed By Expert Panel

CA005491

rs_587778918

1 SubmittersRCV000075220

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

SNV
Germline

Chr3:36996648

Pathogenic

Lynch syndrome

Reviewed By Expert Panel

CA005522

rs_63750098

1 SubmittersRCV000075223

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

Criteria Provided
Conflicting Classifications

CA005528

rs_63751145

9 SubmittersRCV000075224 RCV000132236 RCV000212538 RCV000524241 RCV003478994 RCV003474657

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
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA005534

rs_63750226

12 SubmittersRCV000221321 RCV000409591 RCV000483364 RCV000627722 RCV000764493 RCV002228178 RCV003997114

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

SNV
Germline

Chr3:37028902

Pathogenic

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

Reviewed By Expert Panel

CA005676

rs_63749923

4 SubmittersRCV000075235 RCV000699744 RCV002390219 RCV003451030

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

SNV
Germline

Chr3:37028908

Pathogenic

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

Reviewed By Expert Panel

CA005696

rs_63751472

5 SubmittersRCV000075236 RCV001786332 RCV001854291 RCV002399430 RCV003451031

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

Reviewed By Expert Panel

CA005817

rs_267607832

4 SubmittersRCV000075246 RCV001804813 RCV002399432 RCV003315592

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

Reviewed By Expert Panel

CA005884

rs_267607837

6 SubmittersRCV000075253 RCV001238289 RCV001358119 RCV003451032 RCV001267988 RCV002399433

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

SNV
Germline

Chr3:37040185

Likely pathogenic

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

Reviewed By Expert Panel

CA005891

rs_267607837

7 SubmittersRCV000075254 RCV000539690 RCV001091800 RCV003448260 RCV001012154 RCV003455989

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

SNV
Germline

Chr3:37040185

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

CA005896

rs_267607837

9 SubmittersRCV000075255 RCV000485205 RCV000799045 RCV001193241 RCV003451033 RCV002399434

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

Reviewed By Expert Panel

CA005902

rs_267607836

3 SubmittersRCV000075256 RCV000524243 RCV003451034

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

SNV
Germline

Chr3:37040184

Pathogenic

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

Reviewed By Expert Panel

CA005907

rs_267607836

6 SubmittersRCV000075257 RCV000410283 RCV000520869 RCV001201368

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

Criteria Provided
Conflicting Classifications

CA005937

rs_63751630

14 SubmittersRCV000075265 RCV000483197 RCV000627718 RCV000566893 RCV001778702 RCV000662491

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

Reviewed By Expert Panel

CA006033

rs_63751277

5 SubmittersRCV000075275 RCV001354465 RCV002513801 RCV003451039 RCV002390220

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

SNV
Germline

Chr3:37040240

Pathogenic

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

Reviewed By Expert Panel

CA006106

rs_587778933

4 SubmittersRCV000075276 RCV000567360 RCV000545817 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.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 cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA006231

rs_63750193

4 SubmittersRCV000075292 RCV000570739 RCV003451045 RCV001212034

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

Reviewed By Expert Panel

CA006307

rs_267607845

9 SubmittersRCV000075300 RCV000629693 RCV000214110 RCV001353428 RCV003451048

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

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

Reviewed By Expert Panel

CA006384

rs_63751393

4 SubmittersRCV000075312 RCV000703498 RCV001012704 RCV003451050

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

SNV
Germline

Chr3:37042284

Pathogenic

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

Reviewed By Expert Panel

CA006391

rs_63751460

6 SubmittersRCV000075313 RCV001192578 RCV001310198 RCV001240104 RCV003451051 RCV002408574

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

SNV
Germline/somatic

Chr3:37042321

Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA006493

rs_63751608

4 SubmittersRCV000075320 RCV000698457 RCV002408575

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

SNV
Germline/somatic

Chr3:37042332

Pathogenic

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

Reviewed By Expert Panel

CA006527

rs_267607853

9 SubmittersRCV000075322 RCV001579372 RCV003451053 RCV002514341 RCV000574302 RCV001250003

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
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA006570

rs_267607850

5 SubmittersRCV000075328 RCV001012888 RCV001201385 RCV002279946 RCV003451056

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

SNV
Germline

Chr3:37042331

Pathogenic

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

Reviewed By Expert Panel

CA006585

rs_63751657

18 SubmittersRCV000075331 RCV000202231 RCV000132025 RCV000662481 RCV001553748 RCV001580146 RCV001804815 RCV002483122 RCV000524246 RCV003492410

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

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

Reviewed By Expert Panel

CA006625

rs_267607852

5 SubmittersRCV000075335 RCV000506870 RCV001386351 RCV002399446 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
Hereditary nonpolyposis colorectal neoplasms
Hereditary breast ovarian cancer syndrome
not specified
Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Conflicting Classifications

CA006690

rs_63751713

7 SubmittersRCV000571505 RCV000627697 RCV001030630 RCV001193957 RCV003997117 RCV004019101

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

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

Reviewed By Expert Panel

CA006929

rs_63750604

9 SubmittersRCV000075365 RCV000479277 RCV001354093 RCV000565193 RCV003451068 RCV003492411 RCV003153348

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

SNV
Germline

Chr3:37047597

Pathogenic

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

Reviewed By Expert Panel

CA006984

rs_63750386

4 SubmittersRCV000075370 RCV000985779 RCV002255277 RCV003451069

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

SNV
Germline

Chr3:36996686

Pathogenic

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

Reviewed By Expert Panel

CA007117

rs_63751428

9 SubmittersRCV000075379 RCV000217644 RCV000254916 RCV000694109 RCV003451072

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

SNV
Germline

Chr3:37047639

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA007156

rs_35001569

19 SubmittersRCV000114852 RCV000174992 RCV000663286 RCV000132423 RCV001083570 RCV003149734 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 cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA007222

rs_267607866

4 SubmittersRCV000075387 RCV000165622 RCV000548274 RCV003451073

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

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

Reviewed By Expert Panel

CA007410

rs_267607867

4 SubmittersRCV000075404 RCV000541555 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
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA007419

rs_267607867

7 SubmittersRCV000075405 RCV000479456 RCV000684807 RCV001013523 RCV002288568

NM_000249.4(MLH1):c.1896+2T>C

SNV
Germline

Chr3:37047685

Likely pathogenic

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

Reviewed By Expert Panel

CA007427

rs_267607869

4 SubmittersRCV000075407 RCV001854293 RCV002408584 RCV003235032

NM_000249.4(MLH1):c.1896G>A (p.Glu632=)

SNV
Germline

Chr3:37047683

Pathogenic

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

Reviewed By Expert Panel

CA007444

rs_63751632

14 SubmittersRCV000075409 RCV000498248 RCV000524256 RCV000605751 RCV001013527 RCV001193961

NM_000249.4(MLH1):c.1897-2A>G

SNV
Germline

Chr3:37048515

Likely pathogenic

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

Reviewed By Expert Panel

CA007469

rs_267607871

12 SubmittersRCV000075411 RCV000524638 RCV000662785 RCV000487325 RCV000570210 RCV001844029 RCV000763104

NM_000249.4(MLH1):c.189C>A (p.Asp63Glu)

SNV
Germline

Chr3:36996691

Pathogenic

Lynch syndrome

Reviewed By Expert Panel

CA007476

rs_587778955

1 SubmittersRCV000075413

NM_000249.4(MLH1):c.1918C>T (p.Pro640Ser)

SNV
Germline

Chr3:37048538

Likely pathogenic

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

Reviewed By Expert Panel

CA007602

rs_63749792

7 SubmittersRCV000075424 RCV000569430 RCV000791363 RCV001193959 RCV001354000 RCV002223786 RCV002291271

NM_000249.4(MLH1):c.1919C>T (p.Pro640Leu)

SNV
Germline

Chr3:37048539

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA007611

rs_267607875

4 SubmittersRCV000075425 RCV000821758 RCV002408588 RCV003451083

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
Condition: not provided
Lynch syndrome 1
Aqueductal stenosis
Choreoathetosis
Global developmental delay
Lynch syndrome
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Conflicting Classifications

CA007619

rs_63750952

15 SubmittersRCV000075426 RCV000217492 RCV000513562 RCV000490571 RCV000584818 RCV000708912 RCV001262297 RCV002288569

NM_000249.4(MLH1):c.1943C>T (p.Pro648Leu)

SNV
Germline

Chr3:37048563

Likely pathogenic

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

Reviewed By Expert Panel

CA007716

rs_63750610

8 SubmittersRCV000075433 RCV000221413 RCV000477957 RCV001269952 RCV003997119 RCV000812087

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

Reviewed By Expert Panel

CA007760

rs_63751202

4 SubmittersRCV000075437 RCV001203288 RCV002415523 RCV003451086

NM_000249.4(MLH1):c.1961C>T (p.Pro654Leu)

SNV
Germline

Chr3:37048581

Pathogenic

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

Reviewed By Expert Panel

CA007789

rs_63750726

9 SubmittersRCV000075439 RCV000215855 RCV001201909 RCV002415524 RCV002463635 RCV001554328

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

Criteria Provided
Conflicting Classifications

CA007891

rs_63749900

10 SubmittersRCV000121365 RCV000568527 RCV000656865 RCV001081501 RCV003997120

NM_000249.4(MLH1):c.1976G>C (p.Arg659Pro)

SNV
Germline

Chr3:37048596

Pathogenic

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

Reviewed By Expert Panel

CA007900

rs_63749900

5 SubmittersRCV000075447 RCV001064800 RCV003237435 RCV003451088 RCV002415525

NM_000249.4(MLH1):c.1976G>T (p.Arg659Leu)

SNV
Germline

Chr3:37048596

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA007908

rs_63749900

3 SubmittersRCV000075448 RCV000572238

NM_000249.4(MLH1):c.1984A>C (p.Thr662Pro)

SNV
Germline

Chr3:37048604

Likely pathogenic

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

Reviewed By Expert Panel

CA007926

rs_587778964

6 SubmittersRCV000075450 RCV000524263 RCV000780422 RCV001013906 RCV003451089

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
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA007969

rs_267607879

3 SubmittersRCV000075456 RCV001054272 RCV003451090

NM_000249.4(MLH1):c.1989+1G>T

SNV
Germline

Chr3:37048610

Pathogenic

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

Reviewed By Expert Panel

CA007977

rs_267607879

7 SubmittersRCV000075457 RCV000794468 RCV001180388 RCV000679272

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

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

Reviewed By Expert Panel

CA008008

rs_63751662

5 SubmittersRCV000075461 RCV001525221 RCV000508038 RCV000680174

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

Reviewed By Expert Panel

CA008068

rs_267607883

4 SubmittersRCV000075469 RCV000202242 RCV000690743 RCV003466957

NM_000249.4(MLH1):c.1998G>A (p.Trp666Ter)

SNV
Germline

Chr3:37048912

Pathogenic

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

Reviewed By Expert Panel

CA008096

rs_63750639

4 SubmittersRCV000075473 RCV000627203 RCV002415529 RCV002514344

NM_000249.4(MLH1):c.199G>A (p.Gly67Arg)

SNV
Germline/somatic

Chr3:36996701

Pathogenic

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

Reviewed By Expert Panel

CA008104

rs_63750206

22 SubmittersRCV000075474 RCV000202032 RCV000128871 RCV000524266 RCV000662719 RCV001249945 RCV001290649 RCV001310195 RCV001353779

NM_000249.4(MLH1):c.1A>G (p.Met1Val)

SNV
Germline

Chr3:36993548

Pathogenic

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

Reviewed By Expert Panel

CA008127

rs_587778967

4 SubmittersRCV000075477 RCV000629832 RCV002415530 RCV003477467

NM_000249.4(MLH1):c.2011G>T (p.Glu671Ter)

SNV
Germline/somatic

Chr3:37048925

Pathogenic

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

Reviewed By Expert Panel

CA008195

rs_63750663

4 SubmittersRCV000075483 RCV001249947 RCV002415532 RCV003451094

NM_000249.4(MLH1):c.2027T>C (p.Leu676Pro)

SNV
Germline

Chr3:37048941

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA008222

rs_63750242

5 SubmittersRCV000075485 RCV000216198 RCV000695668 RCV000987189 RCV000985781

NM_000249.4(MLH1):c.2035G>T (p.Glu679Ter)

SNV
Germline

Chr3:37048949

Pathogenic

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

Reviewed By Expert Panel

CA008258

rs_587778971

6 SubmittersRCV000075489 RCV000507295 RCV000529563 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

7 SubmittersRCV000075490 RCV000215088 RCV000791351 RCV001353998 RCV003451096

NM_000249.4(MLH1):c.2038T>G (p.Cys680Gly)

SNV
Germline

Chr3:37048952

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

CA008274

rs_63750809

13 SubmittersRCV000483931 RCV000411388 RCV000579550 RCV000684822 RCV002228179 RCV003997122

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

Criteria Provided
Conflicting Classifications

CA008297

rs_63749867

8 SubmittersRCV000075494 RCV000541158 RCV000662499 RCV000567661 RCV001711130

NM_000249.4(MLH1):c.2048T>C (p.Phe683Ser)

SNV
Germline

Chr3:37048962

Likely pathogenic

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

Reviewed By Expert Panel

CA008321

rs_587778972

7 SubmittersRCV000075497 RCV000790627 RCV001014231 RCV001355274 RCV003451098 RCV000589365 RCV001209526

NM_000249.4(MLH1):c.2059C>T (p.Arg687Trp)

SNV
Germline

Chr3:37048973

Pathogenic

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

Reviewed By Expert Panel

CA008336

rs_63751275

22 SubmittersRCV000075499 RCV000481137 RCV000763106 RCV001093679 RCV000215428 RCV000411954 RCV000524272 RCV003915039 RCV001356525

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

Reviewed By Expert Panel

CA008435

rs_267607722

6 SubmittersRCV000075508 RCV000507560 RCV001000153 RCV001014311 RCV001210840 RCV003455993

NM_000249.4(MLH1):c.208-1G>A

SNV
Germline

Chr3:37000954

Pathogenic

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

Reviewed By Expert Panel

CA008505

rs_267607717

4 SubmittersRCV000075514 RCV000629825 RCV002415535 RCV003451100

NM_000249.4(MLH1):c.208-2A>G

SNV
Germline

Chr3:37000953

Pathogenic

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

Reviewed By Expert Panel

CA008517

rs_267607716

3 SubmittersRCV000075516 RCV002415536 RCV003137610

NM_000249.4(MLH1):c.208-3C>G

SNV
Germline/somatic

Chr3:37000952

Likely pathogenic

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

Reviewed By Expert Panel

CA008526

rs_267607720

8 SubmittersRCV000075517 RCV000524274 RCV000160554 RCV000562969 RCV000763098 RCV003451102

NM_000249.4(MLH1):c.2084C>A (p.Ser695Ter)

SNV
Germline

Chr3:37048998

Pathogenic

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

Reviewed By Expert Panel

CA008537

rs_63749995

6 SubmittersRCV000075523 RCV001059462 RCV002415537 RCV003455995

NM_000249.4(MLH1):c.2093C>G (p.Ser698Ter)

SNV
Germline

Chr3:37049007

Pathogenic

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

Reviewed By Expert Panel

CA008574

rs_587778975

6 SubmittersRCV000075525 RCV000706709 RCV002415539 RCV003451103

NM_000249.4(MLH1):c.2101C>T (p.Gln701Ter)

SNV
Germline

Chr3:37049015

Pathogenic

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

Reviewed By Expert Panel

CA008607

rs_63750114

7 SubmittersRCV000075528 RCV001854297 RCV002415540 RCV003451104 RCV003480053

NM_000249.4(MLH1):c.2103+1G>A

SNV
Germline

Chr3:37049018

Pathogenic

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

Reviewed By Expert Panel

CA008626

rs_267607888

6 SubmittersRCV000075529 RCV000202158 RCV001380413 RCV002415541

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

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

Reviewed By Expert Panel

CA008661

rs_63750603

7 SubmittersRCV000075534 RCV001093697 RCV001549279 RCV002288570 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
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA008714

rs_267607889

3 SubmittersRCV000075540 RCV002415543 RCV003451106

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

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

Reviewed By Expert Panel

CA008833

rs_63750561

11 SubmittersRCV000075550 RCV000202047 RCV000686456 RCV001310200 RCV003451108 RCV000581002

NM_000249.4(MLH1):c.2136G>A (p.Trp712Ter)

SNV
Germline/somatic

Chr3:37050518

Pathogenic

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

Reviewed By Expert Panel

CA008842

rs_63750499

4 SubmittersRCV000075551 RCV001249996 RCV002415546 RCV003451109

NM_000249.4(MLH1):c.2141G>A (p.Trp714Ter)

SNV
Germline

Chr3:37050523

Pathogenic

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

Reviewed By Expert Panel

CA008850

rs_63751022

9 SubmittersRCV000075553 RCV000144606 RCV000165669 RCV003451110 RCV001044497 RCV002280100

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

Criteria Provided
Conflicting Classifications

CA008948

rs_587778985

7 SubmittersRCV000162502 RCV000627729 RCV002288571 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
MLH1-related disorder
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA008958

rs_587778986

13 SubmittersRCV000160544 RCV000212548 RCV000409675 RCV000524278 RCV000781540 RCV003390768 RCV002483123 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

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

Criteria Provided
Conflicting Classifications

CA009001

rs_138584384

9 SubmittersRCV000485816 RCV000627721 RCV000767193 RCV001014672 RCV004566928 RCV003997126

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
Colorectal cancer, hereditary nonpolyposis, type 2
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA009007

rs_566928243

16 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

5 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 cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
MLH1-related disorder
Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Conflicting Classifications

CA009102

rs_267607885

8 SubmittersRCV000115474 RCV000563079 RCV000791373 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

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

Reviewed By Expert Panel

CA009197

rs_267607894

11 SubmittersRCV000075583 RCV000216146 RCV000478074 RCV001355258 RCV001823108 RCV000627694

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

Reviewed By Expert Panel

CA009334

rs_63750437

11 SubmittersRCV000075598 RCV000562335 RCV000791362 RCV001262551 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
Hereditary cancer-predisposing syndrome
not specified
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Carcinoma of colon
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA009402

rs_587778998

12 SubmittersRCV000075602 RCV000166056 RCV000506252 RCV000542720 RCV000490565 RCV001353582 RCV002467439

NM_000249.4(MLH1):c.245C>T (p.Thr82Ile)

SNV
Germline

Chr3:37000992

Pathogenic

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

Reviewed By Expert Panel

CA009423

rs_63750005

8 SubmittersRCV000075604 RCV000222555 RCV000659867 RCV000630024 RCV001778703 RCV003477470

NM_000249.4(MLH1):c.250A>G (p.Lys84Glu)

SNV
Germline

Chr3:37000997

Likely pathogenic

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

Reviewed By Expert Panel

CA009442

rs_63750641

7 SubmittersRCV000075606 RCV001269582 RCV001353981 RCV001201354 RCV002433575 RCV003451121

NM_000249.4(MLH1):c.256C>T (p.Gln86Ter)

SNV
Germline

Chr3:37001003

Pathogenic

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

Reviewed By Expert Panel

CA009451

rs_63751421

6 SubmittersRCV000075607 RCV001529525 RCV002453384 RCV002513802 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.299G>C (p.Arg100Pro)

SNV
Germline

Chr3:37001046

Pathogenic

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

Reviewed By Expert Panel

CA009587

rs_63750266

6 SubmittersRCV000075619 RCV001532480 RCV001854301 RCV002291272 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 cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA009600

rs_111052004

5 SubmittersRCV000075621 RCV002433577 RCV002288572 RCV001800370 RCV003593883

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

Reviewed By Expert Panel

CA009611

rs_267607726

6 SubmittersRCV000075623 RCV000486320 RCV000502831 RCV001211883 RCV003162483 RCV003451125

NM_000249.4(MLH1):c.302G>A (p.Gly101Asp)

SNV
Germline

Chr3:37001049

Likely pathogenic

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

Reviewed By Expert Panel

CA009617

rs_267607727

4 SubmittersRCV000075624 RCV000481030 RCV000568721 RCV003451126

NM_000249.4(MLH1):c.304G>A (p.Glu102Lys)

SNV
Germline

Chr3:37001051

Likely pathogenic

Lynch syndrome 1
Hereditary cancer-predisposing syndrome
not specified
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 RCV000216042 RCV000501856 RCV000493419 RCV000781538 RCV000807476 RCV001353830 RCV003451127

NM_000249.4(MLH1):c.306+1G>A

SNV
Germline

Chr3:37001054

Pathogenic

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

Reviewed By Expert Panel

CA009647

rs_267607734

6 SubmittersRCV000075628 RCV000544543 RCV002444531 RCV003162484 RCV003237436 RCV003451128

NM_000249.4(MLH1):c.306+5G>A

SNV
Germline

Chr3:37001058

Pathogenic

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

Reviewed By Expert Panel

CA009684

rs_267607735

9 SubmittersRCV000022504 RCV000075634 RCV000202186 RCV000763099 RCV001018363 RCV001045822 RCV001804820

NM_000249.4(MLH1):c.306G>C (p.Glu102Asp)

SNV
Germline

Chr3:37001053

Pathogenic

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

Reviewed By Expert Panel

CA009696

rs_63751665

4 SubmittersRCV000075636 RCV001048439 RCV002444532 RCV003451130

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

Reviewed By Expert Panel

CA009742

rs_267607732

3 SubmittersRCV000075644 RCV003451132 RCV002514345

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

5 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
not specified
Lynch syndrome
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Conflicting Classifications

CA009850

rs_63750465

10 SubmittersRCV000115481 RCV000235173 RCV000410226 RCV000524292 RCV000780414 RCV003997128 RCV000764481

NM_000249.4(MLH1):c.350C>G (p.Thr117Arg)

SNV
Germline

Chr3:37004444

Likely pathogenic

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

Reviewed By Expert Panel

CA009864

rs_63750781

7 SubmittersRCV000075665 RCV000202256 RCV000622257 RCV000569088

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

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

Criteria Provided
Conflicting Classifications

CA009965

rs_200076893

10 SubmittersRCV000217922 RCV000410157 RCV000524295 RCV000571582 RCV003149739 RCV003997129

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

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

Reviewed By Expert Panel

CA010022

rs_587779008

4 SubmittersRCV000075677 RCV000162469 RCV000696247 RCV003451138

NM_000249.4(MLH1):c.380+1G>A

SNV
Germline/somatic

Chr3:37004475

Likely pathogenic

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

Reviewed By Expert Panel

CA010040

rs_267607745

8 SubmittersRCV000075679 RCV000524296 RCV001021188 RCV001249909 RCV001353869 RCV000486012 RCV003451139

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

Reviewed By Expert Panel

CA010150

rs_63750866

1 SubmittersRCV000075687

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

Reviewed By Expert Panel

CA010246

rs_63751124

3 SubmittersRCV000075698 RCV003162485 RCV003451146

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

Reviewed By Expert Panel

CA010427

rs_63751302

3 SubmittersRCV000075708 RCV003162486 RCV003451148

NM_000249.4(MLH1):c.453+1G>T

SNV
Germline

Chr3:37007064

Likely pathogenic

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

Reviewed By Expert Panel

CA010483

rs_267607750

8 SubmittersRCV000075712 RCV000160522 RCV000576794 RCV000704046 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
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Carcinoma of colon

Reviewed By Expert Panel

CA010560

rs_267607749

10 SubmittersRCV000075719 RCV000480337 RCV000524301 RCV000565961 RCV003452739 RCV001356457

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

Reviewed By Expert Panel

CA010624

rs_63750891

2 SubmittersRCV000075730 RCV003452740

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
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA010656

rs_63749924

7 SubmittersRCV000130760 RCV000524302 RCV000522486 RCV003997131

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
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA010855

rs_63750102

12 SubmittersRCV000131749 RCV000212519 RCV000411648 RCV000524305 RCV003320556 RCV003997133

NM_000249.4(MLH1):c.544A>G (p.Arg182Gly)

SNV
Germline

Chr3:37008904

Pathogenic

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

Reviewed By Expert Panel

CA010872

rs_63750211

4 SubmittersRCV000075747 RCV000570187 RCV000684818 RCV001353413

NM_000249.4(MLH1):c.545+1G>A

SNV
Germline

Chr3:37008906

Likely pathogenic

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

Reviewed By Expert Panel

CA010895

rs_267607765

4 SubmittersRCV000075748 RCV002345381 RCV003153351 RCV003452744

NM_000249.4(MLH1):c.545+3A>G

SNV
Germline/somatic

Chr3:37008908

Pathogenic

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

Reviewed By Expert Panel

CA010914

rs_267607760

14 SubmittersRCV000075749 RCV000215515 RCV000609647 RCV001804822 RCV001202202 RCV000564669 RCV001249949

NM_000249.4(MLH1):c.545G>A (p.Arg182Lys)

SNV
Germline

Chr3:37008905

Pathogenic

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

Reviewed By Expert Panel

CA010950

rs_587779021

3 SubmittersRCV000075753 RCV001854303 RCV003452745

NM_000249.4(MLH1):c.546-1G>A

SNV
Germline

Chr3:37011819

Likely pathogenic

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

Reviewed By Expert Panel

CA010963

rs_587779022

6 SubmittersRCV000075754 RCV000482173 RCV001854304 RCV002271399 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

8 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
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA011026

rs_63750648

5 SubmittersRCV000075763 RCV000483320 RCV000162610 RCV000680175 RCV000791372

NM_000249.4(MLH1):c.578C>G (p.Ser193Ter)

SNV
Germline

Chr3:37011852

Pathogenic

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

Reviewed By Expert Panel

CA011062

rs_63751480

5 SubmittersRCV000075767 RCV001854305 RCV002354263 RCV003452750 RCV003321498

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

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

Reviewed By Expert Panel

CA011106

rs_267607772

5 SubmittersRCV000075769 RCV001176887 RCV001854306 RCV003452751

NM_000249.4(MLH1):c.588+2T>A

SNV
Germline

Chr3:37011864

Likely pathogenic

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

Reviewed By Expert Panel

CA011113

rs_587779024

5 SubmittersRCV000075771 RCV000550590 RCV001024637 RCV003452752

NM_000249.4(MLH1):c.588+5G>A

SNV
Germline

Chr3:37011867

Pathogenic

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

Reviewed By Expert Panel

CA011130

rs_267607768

10 SubmittersRCV000075774 RCV000213543 RCV000763100 RCV000572458 RCV000627715 RCV001255542 RCV003452753

NM_000249.4(MLH1):c.588+5G>C

SNV
Germline

Chr3:37011867

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA011137

rs_267607768

5 SubmittersRCV000075775 RCV001045347 RCV000987153 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
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA011189

rs_267607767

13 SubmittersRCV000075780 RCV000160526 RCV000212522 RCV000576331 RCV001804823 RCV000524306

NM_000249.4(MLH1):c.5C>A (p.Ser2Ter)

SNV
Germline

Chr3:36993552

Pathogenic

Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA011228

rs_587779029

2 SubmittersRCV000075784 RCV003456001

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
Gastric cancer
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA011295

rs_63750706

7 SubmittersRCV000075787 RCV001269890 RCV002362709 RCV003162488 RCV003452755

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
Hereditary nonpolyposis colon cancer
Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Conflicting Classifications

CA011342

rs_267607775

7 SubmittersRCV000508449 RCV000627731 RCV000771523 RCV003993790 RCV003997136 RCV004566931

NM_000249.4(MLH1):c.649C>T (p.Arg217Cys)

SNV
Germline

Chr3:37012071

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome 1
Carcinoma of colon
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
MLH1-related disorder

Criteria Provided
Conflicting Classifications

CA011361

rs_4986984

15 SubmittersRCV000115483 RCV000212524 RCV001030563 RCV000987154 RCV001093666 RCV001354844 RCV000590255 RCV001079587 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
Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer
Hereditary cancer-predisposing syndrome
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA011528

rs_267607778

8 SubmittersRCV000075803 RCV001034678 RCV001193208 RCV002362711 RCV000480845 RCV003452758

NM_000249.4(MLH1):c.677+3A>G

SNV
Germline

Chr3:37012102

Pathogenic

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

Reviewed By Expert Panel

CA011545

rs_267607780

11 SubmittersRCV000075806 RCV000201996 RCV000812851 RCV000222833 RCV001353985 RCV003466960

NM_000249.4(MLH1):c.677G>A (p.Arg226Gln)

SNV
Germline/somatic

Chr3:37012099

Pathogenic

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

Reviewed By Expert Panel

CA011583

rs_63751711

20 SubmittersRCV000075809 RCV000132197 RCV000410542 RCV000524312 RCV000202049 RCV001093688 RCV001250009 RCV003128139 RCV003162489

NM_000249.4(MLH1):c.677G>T (p.Arg226Leu)

SNV
Germline/somatic

Chr3:37012099

Likely pathogenic

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

Reviewed By Expert Panel

CA011592

rs_63751711

13 SubmittersRCV000075810 RCV000160555 RCV000524313 RCV000709741 RCV000708610 RCV001249952

NM_000249.4(MLH1):c.678-1G>C

SNV
Germline

Chr3:37014431

Pathogenic

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

Reviewed By Expert Panel

CA011606

rs_267607784

4 SubmittersRCV000075813 RCV002362712 RCV003452760 RCV003593888

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

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

Reviewed By Expert Panel

CA011669

rs_63750823

9 SubmittersRCV000075822 RCV000160551 RCV000772326 RCV000811317 RCV001258081 RCV001290676

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
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome 1

Reviewed By Expert Panel

CA011836

rs_63750303

8 SubmittersRCV000075830 RCV000573119 RCV001210008 RCV001354491 RCV003466961 RCV001804824

NM_000249.4(MLH1):c.731G>T (p.Gly244Val)

SNV
Germline/somatic

Chr3:37014485

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA011845

rs_63750303

5 SubmittersRCV000075831 RCV000536939 RCV002381380 RCV003452764

NM_000249.4(MLH1):c.739T>C (p.Ser247Pro)

SNV
Germline

Chr3:37014493

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA011855

rs_63750948

4 SubmittersRCV000075833 RCV001183309 RCV000629770

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

8 SubmittersRCV000075838 RCV000520796 RCV001258082 RCV001854309 RCV002399450

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
Lynch-like syndrome
Lynch syndrome 1
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Colorectal cancer, hereditary nonpolyposis, type 2
Colonic neoplasm

Reviewed By Expert Panel

CA012109

rs_267607789

18 SubmittersRCV000075847 RCV000562275 RCV001249934 RCV001310196 RCV000214767 RCV000524316 RCV003128140 RCV003452766 RCV001646997

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

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

Reviewed By Expert Panel

CA012153

rs_267607790

5 SubmittersRCV000075850 RCV001026933 RCV001382874 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.791-1G>C

SNV
Germline

Chr3:37017505

Pathogenic

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

Reviewed By Expert Panel

CA012277

rs_267607795

7 SubmittersRCV000075860 RCV001183311 RCV001388082 RCV002247470 RCV001723644 RCV003452771

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

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

Reviewed By Expert Panel

CA012308

rs_267607794

8 SubmittersRCV000075863 RCV000115486 RCV000212525 RCV000543128 RCV003452773

NM_000249.4(MLH1):c.791-5T>G

SNV
Germline

Chr3:37017501

Pathogenic

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

Reviewed By Expert Panel

CA012320

rs_267607788

7 SubmittersRCV000075865 RCV000579445 RCV001262553 RCV001379645 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
Lynch-like syndrome
Carcinoma of colon
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA012384

rs_63751194

9 SubmittersRCV000075871 RCV000202126 RCV000567864 RCV001070683 RCV001249943 RCV001353449 RCV003452775

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

Reviewed By Expert Panel

CA012549

rs_63750792

7 SubmittersRCV000075881 RCV000160552 RCV001380943 RCV001800371

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 nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA012571

rs_63749950

3 SubmittersRCV000075883 RCV001854310 RCV002444533

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

Criteria Provided
Multiple Submitters
No Conflicts

CA012754

rs_63750517

3 SubmittersRCV000630228 RCV002371909 RCV003235034

NM_000249.4(MLH1):c.882C>T (p.Leu294=)

SNV
Germline

Chr3:37017597

Pathogenic

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

Reviewed By Expert Panel

CA012784

rs_63751707

7 SubmittersRCV000075900 RCV000574927 RCV000818945 RCV003452781 RCV000759814 RCV004562243

NM_000249.4(MLH1):c.883A>C (p.Ser295Arg)

SNV
Germline

Chr3:37017598

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Carcinoma of colon
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA012793

rs_63751598

5 SubmittersRCV000075901 RCV001046252 RCV001353502 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

6 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

4 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

Reviewed By Expert Panel

CA012922

rs_267607805

9 SubmittersRCV000075914 RCV000132040 RCV000481722 RCV000627716 RCV003452786

NM_000249.4(MLH1):c.887T>G (p.Leu296Ter)

SNV
Germline

Chr3:37020312

Pathogenic

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

Reviewed By Expert Panel

CA012965

rs_63750547

6 SubmittersRCV000075923 RCV000484245 RCV000677881 RCV003452787 RCV003362686 RCV000820731

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
See cases
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA013005

rs_63750489

8 SubmittersRCV000075928 RCV001223223 RCV001701489 RCV002287363 RCV002371912 RCV003452788

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

Criteria Provided
Conflicting Classifications

CA013121

rs_267607808

9 SubmittersRCV000486267 RCV000684787 RCV000574268 RCV003997139 RCV003325180

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
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
Malignant tumor of breast
MLH1-related disorder
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA013293

rs_63750796

21 SubmittersRCV000075945 RCV000115489 RCV000144597 RCV000212528 RCV000410221 RCV000656859 RCV000524325 RCV000764484 RCV001357697 RCV003915040 RCV003492419

NM_000249.4(MLH1):c.955G>T (p.Glu319Ter)

SNV
Germline

Chr3:37020380

Pathogenic

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

Reviewed By Expert Panel

CA013306

rs_63750796

6 SubmittersRCV000075946 RCV000578913 RCV000656559 RCV001019484 RCV001034666

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_000251.1(MSH2):c.-225G>C

SNV
Germline

Chr2:47402967

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA021836

rs_138068023

4 SubmittersRCV000409105 RCV000165718 RCV001567568 RCV002055083

NM_000251.3(MSH2):c.1000A>T (p.Lys334Ter)

SNV
Germline

Chr2:47416353

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA016794

rs_587779063

2 SubmittersRCV000075993 RCV002321565

NM_000251.3(MSH2):c.1009C>T (p.Gln337Ter)

SNV
Germline

Chr2:47416362

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
MSH2-related disorder
Lynch syndrome 1

Reviewed By Expert Panel

CA016831

rs_63750778

7 SubmittersRCV000075997 RCV000153512 RCV000215536 RCV001215910 RCV004537286 RCV003452794

NM_000251.3(MSH2):c.1012G>A (p.Gly338Arg)

SNV
Germline

Chr2:47416365

Pathogenic/Likely pathogenic

Carcinoma of colon
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA016843

rs_63751004

5 SubmittersRCV000500876 RCV002345383 RCV003452795 RCV002228181

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

5 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 nonpolyposis colon cancer
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Reviewed By Expert Panel

CA016940

rs_63750396

8 SubmittersRCV000076005 RCV000202230 RCV001193248 RCV000492045 RCV001854313 RCV001258035

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
Lynch syndrome 1
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer
not specified

Criteria Provided
Conflicting Classifications

CA016975

rs_267607939

15 SubmittersRCV000128932 RCV000148635 RCV000588936 RCV000764423 RCV000986664 RCV001085377 RCV002279934 RCV001844030

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

Reviewed By Expert Panel

CA016981

rs_587779067

6 SubmittersRCV000076008 RCV000490568 RCV002399451

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

Reviewed By Expert Panel

CA017072

rs_267607940

9 SubmittersRCV000076014 RCV000485147 RCV000132414 RCV000541273 RCV000763489 RCV003452798

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
Lynch syndrome 1
Condition: not provided

Reviewed By Expert Panel

CA017136

rs_267607944

7 SubmittersRCV000076019 RCV000491682 RCV003452800 RCV001284005

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

Reviewed By Expert Panel

CA017174

rs_267607943

5 SubmittersRCV000076024 RCV000529751 RCV000491149 RCV001811351 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
Lynch syndrome 1
Condition: not provided

Reviewed By Expert Panel

CA017272

rs_63750558

8 SubmittersRCV000076043 RCV000162405 RCV001385293 RCV002272052 RCV001800373

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

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

Criteria Provided
Conflicting Classifications

CA017350

rs_267607947

9 SubmittersRCV000568561 RCV000663061 RCV000487066 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
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer
Lynch-like syndrome
Rhabdomyosarcoma
MSH2-related disorder
Lynch syndrome 1
Mismatch repair cancer syndrome 1
Muir-Torré syndrome

Reviewed By Expert Panel

CA017356

rs_63749849

22 SubmittersRCV000076049 RCV000202261 RCV000221364 RCV000576748 RCV000524330 RCV001192613 RCV001249954 RCV001257542 RCV004537287 RCV000763490

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
Lynch syndrome 1
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA017363

rs_587779074

10 SubmittersRCV000164456 RCV000524331 RCV000662913 RCV000780454 RCV001564699

NM_000251.3(MSH2):c.1154C>T (p.Pro385Leu)

SNV
Germline

Chr2:47429819

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA017372

rs_564736113

5 SubmittersRCV000794953 RCV001010013 RCV001538801 RCV003997142

NM_000251.3(MSH2):c.1165C>T (p.Arg389Ter)

SNV
Germline

Chr2:47429830

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Carcinoma of colon
Mismatch repair cancer syndrome 1
Lynch syndrome 1
Mismatch repair cancer syndrome 2
Gastric cancer

Reviewed By Expert Panel

CA017391

rs_587779075

22 SubmittersRCV000115494 RCV000076052 RCV000202008 RCV000524332 RCV001353542 RCV001332303 RCV000409481 RCV002255278 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
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Condition: not provided

Reviewed By Expert Panel

CA017437

rs_63750611

5 SubmittersRCV000076055 RCV001385673 RCV002336224 RCV003452805 RCV001353639

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
not specified
Hereditary breast ovarian cancer syndrome
Lynch syndrome 1
Lynch syndrome
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA017443

rs_63751260

9 SubmittersRCV000236371 RCV000491838 RCV000627704 RCV000781559 RCV001030704 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
Lynch syndrome 1
Hereditary nonpolyposis colon cancer

Reviewed By Expert Panel

CA017497

rs_63751412

5 SubmittersRCV000076061 RCV000490977 RCV001071140 RCV003452807 RCV002469004

NM_000251.3(MSH2):c.1215C>A (p.Tyr405Ter)

SNV
Germline

Chr2:47429880

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA017512

rs_63751271

3 SubmittersRCV000076063 RCV002354267

NM_000251.3(MSH2):c.1217G>A (p.Arg406Gln)

SNV
Germline

Chr2:47429882

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA017527

rs_146567853

14 SubmittersRCV000212599 RCV000132166 RCV000411777 RCV000781558 RCV000765665 RCV001798264 RCV001083003 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.1276+1G>A

SNV
Germline/somatic

Chr2:47429942

Pathogenic

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

Reviewed By Expert Panel

CA017744

rs_267607950

15 SubmittersRCV000076086 RCV000548164 RCV000491508 RCV000786795 RCV001250019 RCV001353592 RCV002272053 RCV002469005

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
Lynch syndrome 1
Muir-Torré syndrome
Mismatch repair cancer syndrome 2
Condition: not provided
Lynch syndrome 1

Reviewed By Expert Panel

CA017756

rs_267607950

6 SubmittersRCV000076088 RCV000491760 RCV000707663 RCV002498365 RCV003237437 RCV003452816

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

Reviewed By Expert Panel

CA017815

rs_267607948

4 SubmittersRCV000076097 RCV002371915 RCV003452817

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
Lynch syndrome 1

Reviewed By Expert Panel

CA017836

rs_267607949

3 SubmittersRCV000076100 RCV002371916 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
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Reviewed By Expert Panel

CA017883

rs_63751693

10 SubmittersRCV000076112 RCV000214917 RCV001353690 RCV000627701 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

Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome 1
Lynch syndrome 1
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Hereditary nonpolyposis colorectal neoplasms
Muir-Torré syndrome
Lynch syndrome
MSH2-related disorder
Condition: not provided
Sarcoma

Criteria Provided
Conflicting Classifications

CA017905

rs_17217723

15 SubmittersRCV000131211 RCV000212578 RCV000409784 RCV000764419 RCV000524339 RCV003330424 RCV004537289 RCV000656872 RCV001262887

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
not specified
Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Lynch syndrome
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA018000

rs_587779086

13 SubmittersRCV000478413 RCV000524340 RCV001001300 RCV001143792 RCV000446874 RCV003997145 RCV003492421

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
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA018073

rs_267607954

4 SubmittersRCV000076132 RCV000573345 RCV003452825 RCV000791561

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
Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA018102

rs_63750521

5 SubmittersRCV000076136 RCV000160582 RCV003452827 RCV002381387

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
Lynch syndrome 1

Reviewed By Expert Panel

CA018130

rs_267607957

7 SubmittersRCV000076137 RCV000491969 RCV000684786 RCV001268971 RCV001789614 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 nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Reviewed By Expert Panel

CA018142

rs_267607957

7 SubmittersRCV000076139 RCV001723646 RCV002514350 RCV002390223 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
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1

Reviewed By Expert Panel

CA018225

rs_587779089

4 SubmittersRCV000076152 RCV001011383 RCV001355815 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
Colorectal cancer, non-polyposis
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA018254

rs_63751403

8 SubmittersRCV000218562 RCV000148630 RCV000482094 RCV000627720 RCV003466964 RCV003997147

NM_000251.3(MSH2):c.142G>T (p.Glu48Ter)

SNV
Germline

Chr2:47403333

Pathogenic

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

Reviewed By Expert Panel

CA018272

rs_63750615

10 SubmittersRCV000076158 RCV000537461 RCV000662482 RCV000582377 RCV001011543 RCV001354006 RCV000506167

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

Reviewed By Expert Panel

CA018326

rs_63749947

6 SubmittersRCV000076164 RCV001064013 RCV001269568 RCV002390225

NM_000251.3(MSH2):c.1461C>G (p.Asp487Glu)

SNV
Germline

Chr2:47463105

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA018356

rs_35107951

14 SubmittersRCV000076170 RCV000131869 RCV000524343 RCV001797621 RCV000411837 RCV000590052 RCV001798266

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
Lynch syndrome 1
Carcinoma of colon

Reviewed By Expert Panel

CA018386

rs_63750936

8 SubmittersRCV000076173 RCV000129104 RCV000630148 RCV000759818 RCV003452836 RCV001356325

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

Criteria Provided
Conflicting Classifications

CA018457

rs_56170584

16 SubmittersRCV000076178 RCV000412350 RCV000524345 RCV000486935 RCV000165088 RCV001030703 RCV001354505 RCV002513806 RCV003153355 RCV000781557

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
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA018508

rs_267607962

8 SubmittersRCV000076184 RCV000491325 RCV000583875 RCV003452838 RCV001388415

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
Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA018597

rs_63750780

9 SubmittersRCV000076192 RCV000657577 RCV000701635 RCV003452840 RCV001187045

NM_000251.3(MSH2):c.1563T>C (p.Tyr521=)

SNV
Germline

Chr2:47466710

Conflicting classifications of pathogenicity

not specified
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Malignant tumor of breast
Hereditary nonpolyposis colon cancer
Breast and/or ovarian cancer
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA018611

rs_63750330

16 SubmittersRCV000212604 RCV000409514 RCV000524348 RCV000126814 RCV001092632 RCV001354893 RCV003323289 RCV003149746 RCV003997150

NM_000251.3(MSH2):c.1566C>G (p.Tyr522Ter)

SNV
Germline

Chr2:47466713

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Endometrial carcinoma
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Reviewed By Expert Panel

CA018620

rs_63750224

6 SubmittersRCV000076195 RCV002399452 RCV001357508 RCV001388417 RCV001823110

NM_000251.3(MSH2):c.1600C>T (p.Arg534Cys)

SNV
Germline/somatic

Chr2:47466747

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA018706

rs_63750029

11 SubmittersRCV000076204 RCV000491263 RCV000410514 RCV000524349 RCV000588411 RCV001175346

NM_000251.3(MSH2):c.1640A>G (p.Asn547Ser)

SNV
Germline

Chr2:47466787

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA018784

rs_267607967

8 SubmittersRCV000411811 RCV000506572 RCV001191249 RCV001800374 RCV000697749

NM_000251.3(MSH2):c.1642G>T (p.Gly548Cys)

SNV
Germline

Chr2:47466789

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

CA018790

rs_63750538

7 SubmittersRCV000524350 RCV000490983 RCV000479671 RCV003317077 RCV003466965 RCV003997151

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

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
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Reviewed By Expert Panel

CA018814

rs_63751656

5 SubmittersRCV000076214 RCV000491028 RCV000985797 RCV003593895 RCV003452846

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
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Muir-Torré syndrome
Mismatch repair cancer syndrome 2
Lynch syndrome 1

Reviewed By Expert Panel

CA018841

rs_267607969

7 SubmittersRCV000076217 RCV000491252 RCV001070711 RCV000986676 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

5 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
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1

Reviewed By Expert Panel

CA018877

rs_63750597

5 SubmittersRCV000076221 RCV000491785 RCV003593896 RCV001357409 RCV003452847

NM_000251.3(MSH2):c.1662-1G>A

SNV
Germline/somatic

Chr2:47470964

Pathogenic

Mismatch repair cancer syndrome 2
Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch-like syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA018892

rs_267607970

7 SubmittersRCV000001836 RCV000076224 RCV000491087 RCV001249923 RCV003452848 RCV001239294

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
Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA018959

rs_587779102

3 SubmittersRCV000076238 RCV003452849 RCV002399458

NM_000251.3(MSH2):c.1681G>A (p.Glu561Lys)

SNV
Germline

Chr2:47470984

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA018988

rs_63750328

13 SubmittersRCV000484663 RCV000410128 RCV001198848 RCV000524354 RCV000568086 RCV003997152

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 nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA019047

rs_63751149

2 SubmittersRCV000076250 RCV001854316

NM_000251.3(MSH2):c.1720C>T (p.Gln574Ter)

SNV
Germline

Chr2:47471023

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Reviewed By Expert Panel

CA019108

rs_63751298

4 SubmittersRCV000076257 RCV002399460 RCV003452853

NM_000251.3(MSH2):c.1738G>T (p.Glu580Ter)

SNV
Germline/somatic

Chr2:47471041

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Neoplasm of ovary
Lynch-like syndrome
Lynch syndrome 1

Reviewed By Expert Panel

CA019142

rs_63751411

8 SubmittersRCV000076261 RCV000491635 RCV000483706 RCV000552781 RCV000785573 RCV001249917 RCV003452854

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

Reviewed By Expert Panel

CA019206

rs_587779110

12 SubmittersRCV000076272 RCV000481985 RCV000491462 RCV000546853 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 nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome
Condition: not provided
Malignant tumor of breast

Criteria Provided
Conflicting Classifications

CA019271

rs_371614039

16 SubmittersRCV000524360 RCV000662460 RCV000160595 RCV000212609 RCV003997153 RCV000656879 RCV001357833

NM_000251.3(MSH2):c.1777C>T (p.Gln593Ter)

SNV
Germline/somatic

Chr2:47475042

Pathogenic

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

Reviewed By Expert Panel

CA019278

rs_63750200

7 SubmittersRCV000076282 RCV000540595 RCV001269629 RCV001249920 RCV002399463 RCV003452857

NM_000251.3(MSH2):c.1808A>G (p.Asp603Gly)

SNV
Germline

Chr2:47475073

Likely pathogenic

Lynch syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA019354

rs_267607985

4 SubmittersRCV000076292 RCV003460714 RCV001854317 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

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

Criteria Provided
Conflicting Classifications

CA019414

rs_587779113

9 SubmittersRCV001703978 RCV003317078 RCV003997154 RCV000662761 RCV000708715 RCV001218170

NM_000251.3(MSH2):c.1835C>G (p.Ser612Ter)

SNV
Germline

Chr2:47475100

Pathogenic

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

Reviewed By Expert Panel

CA019418

rs_63750493

8 SubmittersRCV000076300 RCV000491040 RCV000629963 RCV000202183 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
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Lynch syndrome 1
Lynch-like syndrome
Hereditary nonpolyposis colon cancer
Breast carcinoma

Reviewed By Expert Panel

CA019461

rs_63750508

18 SubmittersRCV000076305 RCV000414448 RCV000524364 RCV000491286 RCV000602838 RCV000763492 RCV001249915 RCV001328039 RCV001650893

NM_000251.3(MSH2):c.1864C>A (p.Pro622Thr)

SNV
Germline

Chr2:47475129

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA019468

rs_63750280

4 SubmittersRCV000255200 RCV000491749 RCV003452863 RCV001036384

NM_000251.3(MSH2):c.1885C>T (p.Gln629Ter)

SNV
Germline

Chr2:47475150

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colon cancer
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Reviewed By Expert Panel

CA019511

rs_63750203

5 SubmittersRCV000076313 RCV001013537 RCV003478996 RCV001071237 RCV003452867

NM_000251.3(MSH2):c.1907C>T (p.Ala636Val)

SNV
Germline

Chr2:47475172

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA019539

rs_63750279

5 SubmittersRCV000583770 RCV000524367 RCV001588896 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 nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Reviewed By Expert Panel

CA019616

rs_63751317

4 SubmittersRCV000076327 RCV001069113 RCV001013869 RCV003452869

NM_000251.3(MSH2):c.2005+1G>A

SNV
Germline

Chr2:47475271

Likely pathogenic

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

Reviewed By Expert Panel

CA019701

rs_267607986

5 SubmittersRCV000076337 RCV000078422 RCV001014038 RCV003452871 RCV001068056

NM_000251.3(MSH2):c.2005+1G>C

SNV
Germline

Chr2:47475271

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Reviewed By Expert Panel

CA019708

rs_267607986

3 SubmittersRCV000076338 RCV003162495 RCV003452872

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 nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Reviewed By Expert Panel

CA019741

rs_267607988

4 SubmittersRCV000076347 RCV001379378 RCV000491159 RCV003452876

NM_000251.3(MSH2):c.2006-2A>G

SNV
Germline

Chr2:47476365

Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colon cancer
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Reviewed By Expert Panel

CA019751

rs_267607991

5 SubmittersRCV000076349 RCV001420710 RCV000774579 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
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA019774

rs_63751640

4 SubmittersRCV000076354 RCV001854322 RCV002415559 RCV003452878

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
Lynch syndrome 1
Condition: not provided

Reviewed By Expert Panel

CA019785

rs_63751640

6 SubmittersRCV000076356 RCV000491447 RCV000692084 RCV000581599 RCV003452879 RCV002477219

NM_000251.3(MSH2):c.2009C>T (p.Pro670Leu)

SNV
Germline

Chr2:47476370

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA019790

rs_41294982

8 SubmittersRCV000220086 RCV000524371 RCV000765672 RCV000483333 RCV003389040 RCV002265597 RCV003997156

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

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
Condition: not provided
Lynch syndrome 1

Reviewed By Expert Panel

CA019825

rs_63750234

4 SubmittersRCV000076362 RCV001723648 RCV003452881

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

Reviewed By Expert Panel

CA019900

rs_267607995

9 SubmittersRCV000076370 RCV000132039 RCV000202225 RCV000524373 RCV001264415 RCV001588897 RCV003452883

NM_000251.3(MSH2):c.2060T>C (p.Leu687Pro)

SNV
Germline

Chr2:47476421

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA019927

rs_587779133

7 SubmittersRCV000524374 RCV000160600 RCV003452885 RCV000586744

NM_000251.3(MSH2):c.2063T>G (p.Met688Arg)

SNV
Germline

Chr2:47476424

Pathogenic

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

Reviewed By Expert Panel

CA019937

rs_63749993

6 SubmittersRCV000076376 RCV000524375 RCV001284172 RCV001353848 RCV001804825 RCV000491088

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

Criteria Provided
Conflicting Classifications

CA019942

rs_63750790

15 SubmittersRCV000165796 RCV000410248 RCV000524376 RCV001030713 RCV001260344 RCV001588898 RCV003997157

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 cancer-predisposing syndrome
Condition: not provided

Reviewed By Expert Panel

CA019969

rs_63751432

3 SubmittersRCV000076382 RCV002415563 RCV001355702

NM_000251.3(MSH2):c.2087C>T (p.Pro696Leu)

SNV
Germline

Chr2:47476448

Pathogenic

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

Reviewed By Expert Panel

CA019979

rs_267607994

5 SubmittersRCV000076383 RCV000492029 RCV000501546 RCV001034643 RCV003452886

NM_000251.3(MSH2):c.2089T>C (p.Cys697Arg)

SNV
Germline

Chr2:47476450

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
MSH2-related disorder

Reviewed By Expert Panel

CA019984

rs_63750961

5 SubmittersRCV000076384 RCV002228184 RCV002415564 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

Reviewed By Expert Panel

CA020085

rs_267607917

6 SubmittersRCV000076395 RCV001699196 RCV002415565 RCV003452891

NM_000251.3(MSH2):c.212-478T>G

SNV
Germline

Chr2:47407923

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA020095

rs_587779138

2 SubmittersRCV000076396 RCV002415566

NM_000251.3(MSH2):c.2123T>A (p.Ile708Asn)

SNV
Germline

Chr2:47476484

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

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
Hereditary nonpolyposis colorectal neoplasms
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Lynch syndrome 1
not specified
Lynch-like syndrome
Lynch syndrome 1

Reviewed By Expert Panel

CA020107

rs_63750636

25 SubmittersRCV000076405 RCV000129341 RCV000202062 RCV000524377 RCV000763494 RCV001000186 RCV001249926 RCV002272055

NM_000251.3(MSH2):c.2139G>T (p.Gly713=)

SNV
Germline

Chr2:47476500

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA020122

rs_63750003

6 SubmittersRCV000630364 RCV000662860 RCV001014480 RCV003997158

NM_000251.3(MSH2):c.2141C>T (p.Ala714Val)

SNV
Germline

Chr2:47476502

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA020132

rs_63751224

5 SubmittersRCV000535935 RCV000574384 RCV003997159 RCV004537294

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

Reviewed By Expert Panel

CA020138

rs_587779139

12 SubmittersRCV000076411 RCV000214955 RCV000506389 RCV000627699 RCV001353948 RCV001804826

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

6 SubmittersRCV000802176 RCV002465506 RCV003320558 RCV003584545

NM_000251.3(MSH2):c.2191G>T (p.Glu731Ter)

SNV
Germline

Chr2:47476552

Pathogenic

Lynch syndrome
Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA020196

rs_63749802

3 SubmittersRCV000076417 RCV003452893 RCV002415567

NM_000251.3(MSH2):c.2210+1G>A

SNV
Germline

Chr2:47476572

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Reviewed By Expert Panel

CA020243

rs_267608002

5 SubmittersRCV000076423 RCV000490900 RCV000524382 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

Reviewed By Expert Panel

CA020281

rs_267608001

2 SubmittersRCV000076431 RCV001823111

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

Reviewed By Expert Panel

CA020302

rs_63751155

5 SubmittersRCV000076434 RCV000236386 RCV001062167 RCV003452898

NM_000251.3(MSH2):c.2228C>G (p.Ser743Ter)

SNV
Germline

Chr2:47478289

Pathogenic

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

Reviewed By Expert Panel

CA020306

rs_63751155

8 SubmittersRCV000076435 RCV000491630 RCV000630114 RCV001353876 RCV000851293

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 syndrome 1
Lynch-like syndrome

Reviewed By Expert Panel

CA020381

rs_63750042

8 SubmittersRCV000076447 RCV000202307 RCV000491576 RCV000684780 RCV003312993 RCV001250039

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
not specified

Criteria Provided
Conflicting Classifications

CA020467

rs_63750684

13 SubmittersRCV000076457 RCV000217041 RCV000410216 RCV000586175 RCV000524385 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.2400A>G (p.Leu800=)

SNV
Germline

Chr2:47478461

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA020556

rs_201298777

16 SubmittersRCV000160651 RCV000212619 RCV000410686 RCV000724817 RCV001083867 RCV004537295 RCV001354589

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
Hereditary nonpolyposis colon cancer
Lynch syndrome 1

Reviewed By Expert Panel

CA020589

rs_63751018

4 SubmittersRCV000076473 RCV001388595 RCV002298462 RCV003452910

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

Reviewed By Expert Panel

CA020600

rs_63749917

4 SubmittersRCV000076476 RCV001015571 RCV001201361 RCV003452911

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

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA020616

rs_267608012

8 SubmittersRCV000076479 RCV000160620 RCV001358742 RCV001015604 RCV001854328 RCV003452913

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
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA020651

rs_41295296

13 SubmittersRCV000115519 RCV000212621 RCV000410916 RCV000656882 RCV001082618 RCV003997162

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

10 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
Condition: not provided
Malignant tumor of breast
Lynch syndrome 1
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA020666

rs_267608016

8 SubmittersRCV000216575 RCV000479296 RCV001357139 RCV003466966 RCV003997163 RCV000524391

NM_000251.3(MSH2):c.2533A>G (p.Lys845Glu)

SNV
Germline

Chr2:47480770

Conflicting classifications of pathogenicity

Lynch syndrome 1
not specified
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary breast ovarian cancer syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA020689

rs_63750571

11 SubmittersRCV000662762 RCV001174808 RCV000215108 RCV000524393 RCV001030485 RCV003997164

NM_000251.3(MSH2):c.2536C>T (p.Gln846Ter)

SNV
Germline

Chr2:47480773

Pathogenic

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

Reviewed By Expert Panel

CA020692

rs_63750857

5 SubmittersRCV000076498 RCV001207810 RCV000657648 RCV003452918 RCV002453388

NM_000251.3(MSH2):c.2551C>A (p.Leu851Ile)

SNV
Germline

Chr2:47480788

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA020709

rs_267608015

9 SubmittersRCV000236323 RCV000410329 RCV000491427 RCV000552050 RCV002247471 RCV003153357

NM_000251.3(MSH2):c.2558A>C (p.Glu853Ala)

SNV
Germline

Chr2:47480795

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA020731

rs_63750797

12 SubmittersRCV000164439 RCV000484878 RCV000541354 RCV000663223 RCV001356683 RCV003997165 RCV000656884

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 nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Reviewed By Expert Panel

CA020766

rs_63749830

6 SubmittersRCV000076506 RCV000794539 RCV001015992 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 nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Reviewed By Expert Panel

CA020783

rs_63750291

5 SubmittersRCV000076509 RCV001386002 RCV000491532 RCV003452921

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

Reviewed By Expert Panel

CA020828

rs_267608019

8 SubmittersRCV000076518 RCV000506677 RCV000688047 RCV000491073 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 syndrome 1
Lynch-like syndrome

Reviewed By Expert Panel

CA020831

rs_267608019

6 SubmittersRCV000076519 RCV001386003 RCV001016179 RCV003452924 RCV001250026

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

Reviewed By Expert Panel

CA020838

rs_267608017

7 SubmittersRCV000076521 RCV000491990 RCV001063481 RCV003452925

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

Reviewed By Expert Panel

CA020844

rs_63751624

6 SubmittersRCV000076523 RCV000519129 RCV001255522 RCV003452927 RCV000491856 RCV000791439

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 nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colon cancer

Reviewed By Expert Panel

CA020873

rs_63750808

9 SubmittersRCV000076535 RCV000202119 RCV001386004 RCV000491409 RCV003155064

NM_000251.3(MSH2):c.2714C>T (p.Thr905Ile)

SNV
Germline

Chr2:47482858

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA020895

rs_267608022

10 SubmittersRCV000131745 RCV000235233 RCV000781552 RCV001084144 RCV003997168

NM_000251.3(MSH2):c.2732T>G (p.Leu911Arg)

SNV
Germline

Chr2:47482876

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome
Lynch syndrome 1
Carcinoma of colon
Hereditary nonpolyposis colorectal neoplasms
Breast and/or ovarian cancer
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA020910

rs_41295182

16 SubmittersRCV000235177 RCV000589745 RCV000129717 RCV000760996 RCV000172810 RCV001354813 RCV000524397 RCV003149751 RCV004528276

NM_000251.3(MSH2):c.274C>G (p.Leu92Val)

SNV
Germline

Chr2:47408463

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA020916

rs_587779154

12 SubmittersRCV000221964 RCV000412138 RCV000552261 RCV001196697 RCV001353838 RCV003387753 RCV003997169

NM_000251.3(MSH2):c.277C>T (p.Leu93Phe)

SNV
Germline

Chr2:47408466

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA020925

rs_63751429

3 SubmittersRCV000076546 RCV002433581 RCV002465507

NM_000251.3(MSH2):c.2790A>G (p.Ile930Met)

SNV
Germline

Chr2:47482934

Conflicting classifications of pathogenicity

Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA020945

rs_587779155

5 SubmittersRCV000411744 RCV001016615 RCV000691322

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.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

4 SubmittersRCV000076561 RCV000569740 RCV001389138 RCV003452932

NM_000251.3(MSH2):c.308A>G (p.Tyr103Cys)

SNV
Germline

Chr2:47408497

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA021001

rs_63751173

8 SubmittersRCV000478164 RCV000662774 RCV000491016 RCV003997171 RCV001232251

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 cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA021052

rs_267607924

5 SubmittersRCV000076573 RCV000759832 RCV002453390 RCV003452936 RCV001059850

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.399C>T (p.Asp133=)

SNV
Germline

Chr2:47410126

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome 1
Malignant tumor of breast
MSH2-related disorder
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA021124

rs_61756462

9 SubmittersRCV000164131 RCV000524407 RCV000608950 RCV000663052 RCV001357112 RCV004542748 RCV003997173

NM_000251.3(MSH2):c.425C>G (p.Ser142Ter)

SNV
Germline

Chr2:47410152

Pathogenic

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

Reviewed By Expert Panel

CA021151

rs_63750910

7 SubmittersRCV000076598 RCV000519167 RCV001071576 RCV001797622 RCV003452940 RCV001022162

NM_000251.3(MSH2):c.435T>G (p.Ile145Met)

SNV
Germline

Chr2:47410162

Conflicting classifications of pathogenicity

Colorectal cancer, non-polyposis
not specified
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Lynch syndrome 1
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Breast carcinoma
Carcinoma of colon
Breast and/or ovarian cancer
Condition: not provided
MSH2-related disorder
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA021158

rs_63750124

25 SubmittersRCV000148628 RCV000212585 RCV000115532 RCV000662480 RCV000764421 RCV001262752 RCV001358588 RCV001798267 RCV000588226 RCV004528278 RCV001085983

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

Reviewed By Expert Panel

CA021199

rs_63750624

11 SubmittersRCV000076608 RCV000491163 RCV000662882 RCV000985811 RCV001194033 RCV000524412 RCV004546430

NM_000251.3(MSH2):c.488T>A (p.Val163Asp)

SNV
Germline

Chr2:47410215

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA021206

rs_63750214

5 SubmittersRCV000076610 RCV000492044 RCV004566934 RCV003593902

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
Lynch syndrome 1

Reviewed By Expert Panel

CA021212

rs_63750582

6 SubmittersRCV000076612 RCV000491974 RCV001293544 RCV001249918 RCV001390798 RCV003452944

NM_000251.3(MSH2):c.490G>T (p.Gly164Trp)

SNV
Germline

Chr2:47410217

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA021215

rs_63750582

5 SubmittersRCV000491255 RCV000168725 RCV001060501 RCV003444198 RCV000767200

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
Neoplasm of ovary
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Reviewed By Expert Panel

CA021248

rs_63750843

8 SubmittersRCV000076621 RCV000236121 RCV000491287 RCV000785436 RCV000791416 RCV003452945

NM_000251.3(MSH2):c.512G>A (p.Arg171Lys)

SNV
Germline

Chr2:47410239

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA021254

rs_63750902

6 SubmittersRCV000570883 RCV001137124 RCV000627693 RCV003997176 RCV003231115

NM_000251.3(MSH2):c.518T>C (p.Leu173Pro)

SNV
Germline/somatic

Chr2:47410245

Pathogenic/Likely pathogenic

Carcinoma of colon
Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA021269

rs_63750070

5 SubmittersRCV001353990 RCV001854331 RCV002290960 RCV002336228 RCV003997177

NM_000251.3(MSH2):c.518T>G (p.Leu173Arg)

SNV
Germline

Chr2:47410245

Pathogenic

Lynch syndrome 1
Lynch syndrome

Reviewed By Expert Panel

CA021275

rs_63750070

2 SubmittersRCV000076626 RCV000778170

NM_000251.3(MSH2):c.524T>C (p.Leu175Pro)

SNV
Germline

Chr2:47410251

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA021302

rs_63751291

7 SubmittersRCV000697263 RCV001731362 RCV001800375 RCV003452948 RCV001184535

NM_000251.3(MSH2):c.529G>T (p.Glu177Ter)

SNV
Germline

Chr2:47410256

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA021325

rs_63750382

2 SubmittersRCV000076632 RCV002345386

NM_000251.3(MSH2):c.547C>T (p.Gln183Ter)

SNV
Germline

Chr2:47410274

Pathogenic

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

Reviewed By Expert Panel

CA021358

rs_63750037

5 SubmittersRCV000076634 RCV000561236 RCV001781399 RCV003452950

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

Criteria Provided
Conflicting Classifications

CA021391

rs_151129360

15 SubmittersRCV000130716 RCV000202264 RCV000411418 RCV000587046 RCV001081828 RCV001798268

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
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA021414

rs_63751444

4 SubmittersRCV000076639 RCV003452951 RCV000822250 RCV002345387

NM_000251.3(MSH2):c.577C>T (p.Gln193Ter)

SNV
Germline

Chr2:47410304

Pathogenic

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

Reviewed By Expert Panel

CA021466

rs_63751326

6 SubmittersRCV000076645 RCV000629870 RCV000490948 RCV003452952 RCV001284655

NM_000251.3(MSH2):c.592G>A (p.Glu198Lys)

SNV
Germline

Chr2:47410319

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

rs_587779166

3 SubmittersRCV003311405 RCV003455794

NM_000251.3(MSH2):c.595T>C (p.Cys199Arg)

SNV
Germline

Chr2:47410322

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA021524

rs_63751110

4 SubmittersRCV000076650 RCV001854333 RCV003315405 RCV004019518

NM_000251.3(MSH2):c.596G>A (p.Cys199Tyr)

SNV
Germline

Chr2:47410323

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA021530

rs_63751136

3 SubmittersRCV000160619 RCV003452954 RCV002354269

NM_000251.3(MSH2):c.599T>A (p.Val200Asp)

SNV
Germline

Chr2:47410326

Pathogenic

Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA021536

rs_587779167

3 SubmittersRCV000076652 RCV002354270 RCV000811653

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

Reviewed By Expert Panel

CA021638

rs_63751274

7 SubmittersRCV000076658 RCV001854334 RCV000657646 RCV003150809 RCV002362713 RCV002463636

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

Reviewed By Expert Panel

CA021649

rs_267607689

4 SubmittersRCV000076660 RCV000220374 RCV002247472 RCV001854336

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
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA021655

rs_587779168

8 SubmittersRCV000419965 RCV000491694 RCV000627695 RCV003477472 RCV003997178

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 nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA021710

rs_587779170

6 SubmittersRCV000076677 RCV001264589 RCV001386603 RCV003452958 RCV001025372

NM_000251.3(MSH2):c.672C>G (p.Ile224Met)

SNV
Germline

Chr2:47412440

Conflicting classifications of pathogenicity

Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA021724

rs_587779171

5 SubmittersRCV000662390 RCV000569759 RCV000684803

NM_000251.3(MSH2):c.685A>T (p.Lys229Ter)

SNV
Germline

Chr2:47412453

Pathogenic

Lynch syndrome

Reviewed By Expert Panel

CA021947

rs_587779173

1 SubmittersRCV000076680

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
not specified
Malignant tumor of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA022108

rs_63751455

13 SubmittersRCV000131412 RCV000411200 RCV000524419 RCV000781566 RCV001357533 RCV000479306

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
not specified
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA022149

rs_587779178

9 SubmittersRCV000235646 RCV000491084 RCV002265598 RCV003389041 RCV000630103 RCV003997180

NM_000251.3(MSH2):c.754C>T (p.Gln252Ter)

SNV
Germline

Chr2:47412522

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA022185

rs_63750347

4 SubmittersRCV000076700 RCV000491026 RCV003452965 RCV000808434

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

4 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
not specified
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Malignant tumor of breast

Criteria Provided
Conflicting Classifications

CA022283

rs_267607935

9 SubmittersRCV000129148 RCV000440249 RCV000410638 RCV000524421 RCV003477473 RCV001355416

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.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
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Reviewed By Expert Panel

CA022437

rs_63750276

5 SubmittersRCV000076737 RCV000115545 RCV001053401 RCV002444540 RCV003452969

NM_000251.3(MSH2):c.862C>T (p.Gln288Ter)

SNV
Germline

Chr2:47414338

Pathogenic

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

Reviewed By Expert Panel

CA022450

rs_63750097

8 SubmittersRCV000076738 RCV000484173 RCV000528830 RCV001183048 RCV003452970

NM_000251.3(MSH2):c.868G>T (p.Glu290Ter)

SNV
Germline

Chr2:47414344

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Lynch syndrome 1
Lynch syndrome 1

Reviewed By Expert Panel

CA022458

rs_587779190

6 SubmittersRCV000076740 RCV000165329 RCV001854340 RCV000763488 RCV003452971

NM_000251.3(MSH2):c.892C>T (p.Gln298Ter)

SNV
Germline

Chr2:47414368

Pathogenic

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

Reviewed By Expert Panel

CA022486

rs_63750934

9 SubmittersRCV000076744 RCV000478579 RCV000629714 RCV000677887 RCV001357211 RCV003447488 RCV000490887

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

5 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
Breast and/or ovarian cancer
MSH2-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA022539

rs_63751454

14 SubmittersRCV000115547 RCV000076748 RCV000148633 RCV000656876 RCV001084038 RCV003492427 RCV004542749 RCV001193245

NM_000251.3(MSH2):c.929T>C (p.Leu310Pro)

SNV
Germline

Chr2:47414405

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA022549

rs_63750640

3 SubmittersRCV000076750 RCV000491370 RCV001052685

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
Condition: not provided
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA022580

rs_587779195

6 SubmittersRCV000076754 RCV000491479 RCV001723651 RCV003452977 RCV001050513

NM_000251.3(MSH2):c.942G>A (p.Gln314=)

SNV
Germline

Chr2:47414418

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Reviewed By Expert Panel

CA022591

rs_587779197

3 SubmittersRCV000076756 RCV002444543 RCV003452978

NM_000251.3(MSH2):c.943-1G>A

SNV
Germline

Chr2:47416295

Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA022598

rs_12476364

4 SubmittersRCV000076757 RCV000532450 RCV003452979 RCV002371918

NM_000251.3(MSH2):c.943-1G>C

SNV
Germline

Chr2:47416295

Likely pathogenic

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

Reviewed By Expert Panel

CA022602

rs_12476364

7 SubmittersRCV000076758 RCV000491758 RCV000696831 RCV001531920 RCV002288573

NM_000251.3(MSH2):c.943-2A>G

SNV
Germline

Chr2:47416294

Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Carcinoma of colon
Hereditary nonpolyposis colon cancer

Reviewed By Expert Panel

CA022606

rs_587779198

8 SubmittersRCV000076759 RCV000544929 RCV000491601 RCV000663253 RCV001353928 RCV001280659

NM_000251.3(MSH2):c.968C>G (p.Ser323Cys)

SNV
Germline

Chr2:47416321

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Condition: not provided
Colorectal cancer, non-polyposis
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA022662

rs_63750732

8 SubmittersRCV000222150 RCV000412467 RCV000480555 RCV000148634 RCV000524426 RCV003997184

NM_000251.3(MSH2):c.970C>T (p.Gln324Ter)

SNV
Germline

Chr2:47416323

Pathogenic

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

Reviewed By Expert Panel

CA022678

rs_63750502

7 SubmittersRCV000076766 RCV001050003 RCV000201985 RCV001019659 RCV003452980

NM_000251.3(MSH2):c.97A>C (p.Thr33Pro)

SNV
Germline

Chr2:47403288

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Malignant tumor of breast
Muir-Torré syndrome
Lynch syndrome 1
Mismatch repair cancer syndrome 2
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA022692

rs_63751107

12 SubmittersRCV000129083 RCV000236043 RCV000662483 RCV000627734 RCV000656871 RCV001354855 RCV002483125 RCV003997185

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
not specified

Criteria Provided
Conflicting Classifications

CA022696

rs_63751107

7 SubmittersRCV000076773 RCV000480593 RCV000565059 RCV000684814 RCV001818242

NM_000251.3(MSH2):c.989T>C (p.Leu330Pro)

SNV
Germline

Chr2:47416342

Pathogenic

Lynch syndrome
Colonic diverticula
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA022706

rs_63750630

3 SubmittersRCV000076775 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

4 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

15 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.1261C>T (p.Arg421Ter)

SNV
Germline

Chr7:5987504

Pathogenic

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

Reviewed By Expert Panel

CA009431

rs_587778617

14 SubmittersRCV000076804 RCV000121843 RCV000219846 RCV000223405 RCV000627692 RCV000786880 RCV001255553 RCV001353689

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
not specified
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA009709

rs_587779328

7 SubmittersRCV000076811 RCV000221900 RCV000483082 RCV000657046 RCV000684795

NM_000535.7(PMS2):c.1510G>C (p.Glu504Gln)

SNV
Germline

Chr7:5987255

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA009792

rs_368516768

10 SubmittersRCV000162805 RCV000524435 RCV000780617 RCV001354515 RCV000483703 RCV003460718 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

Reviewed By Expert Panel

CA009971

rs_587779324

3 SubmittersRCV000076818 RCV003320559

NM_000535.7(PMS2):c.1738A>T (p.Lys580Ter)

SNV
Germline

Chr7:5987027

Pathogenic

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

Reviewed By Expert Panel

CA010207

rs_267608169

9 SubmittersRCV000076824 RCV000129628 RCV000260402 RCV000524446 RCV002307391 RCV003452986

NM_000535.7(PMS2):c.1753C>A (p.Leu585Ile)

SNV
Germline

Chr7:5987012

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA010216

rs_63750947

9 SubmittersRCV000216706 RCV000524448 RCV001529737 RCV003997188

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

14 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
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Pulmonary arterial hypertension
Respiratory insufficiency
Pulmonary valve insufficiency
Hereditary nonpolyposis colon cancer
Lynch syndrome 4

Reviewed By Expert Panel

CA010460

rs_63751422

13 SubmittersRCV000076835 RCV000148733 RCV000164116 RCV000223612 RCV000524452 RCV000735282 RCV003323387 RCV003452988

NM_000535.7(PMS2):c.1939A>T (p.Lys647Ter)

SNV
Germline

Chr7:5986826

Pathogenic

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

Reviewed By Expert Panel

CA010519

rs_201451115

23 SubmittersRCV000128864 RCV000076836 RCV000414304 RCV000627727 RCV000507921 RCV000709754 RCV002228187 RCV002288575

NM_000535.7(PMS2):c.1A>G (p.Met1Val)

SNV
Germline

Chr7:6009019

Likely pathogenic

Lynch syndrome 1
Lynch syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer
Mismatch repair cancer syndrome 4
Mismatch repair cancer syndrome 1
Lynch syndrome 4
Hereditary cancer-predisposing syndrome
PMS2-related disorder

Reviewed By Expert Panel

CA010642

rs_587779333

20 SubmittersRCV000144649 RCV000076838 RCV000160894 RCV000524456 RCV001280543 RCV001523838 RCV001293980 RCV000410400 RCV000564071 RCV003982873

NM_000535.7(PMS2):c.2007-1G>A

SNV
Germline

Chr7:5982992

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Reviewed By Expert Panel

CA010684

rs_267608170

3 SubmittersRCV000076841 RCV002415570 RCV003452989

NM_000535.7(PMS2):c.2113G>A (p.Glu705Lys)

SNV
Germline

Chr7:5982885

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA010854

rs_267608161

17 SubmittersRCV000115674 RCV000144654 RCV000076843 RCV000223542 RCV000524457 RCV002298464 RCV003149756 RCV003452990

NM_000535.7(PMS2):c.2174+1G>A

SNV
Germline

Chr7:5982823

Pathogenic

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

Reviewed By Expert Panel

CA010965

rs_267608172

15 SubmittersRCV000076844 RCV000115677 RCV000218995 RCV000409361 RCV000539044 RCV003149757

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
Lynch syndrome 4
Hereditary nonpolyposis colon cancer
PMS2-related disorder

Criteria Provided
Conflicting Classifications

CA011133

rs_587779337

13 SubmittersRCV000076849 RCV000115679 RCV000212868 RCV000524463 RCV001253062 RCV002271400 RCV003398663

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
Mismatch repair cancer syndrome 1
Lynch syndrome 4
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA011412

rs_149202766

10 SubmittersRCV000162455 RCV000215298 RCV000524466 RCV000590372 RCV000764720 RCV003153358

NM_000535.7(PMS2):c.2444C>T (p.Ser815Leu)

SNV
Germline

Chr7:5977589

Likely pathogenic

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

Reviewed By Expert Panel

CA011500

rs_587779338

12 SubmittersRCV000076859 RCV000130249 RCV000525929 RCV000764719 RCV001193971 RCV000485694 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

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

Criteria Provided
Conflicting Classifications

CA012420

rs_587779342

14 SubmittersRCV000164809 RCV000409570 RCV000524477 RCV000485945 RCV001357098 RCV003997191 RCV003149758

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

Reviewed By Expert Panel

CA012564

rs_587779343

16 SubmittersRCV000076881 RCV000115701 RCV000212848 RCV000524479 RCV001799617

NM_000535.7(PMS2):c.703C>T (p.Gln235Ter)

SNV
Germline

Chr7:5999110

Pathogenic

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

Reviewed By Expert Panel

CA012575

rs_63750261

6 SubmittersRCV000076882 RCV000132294 RCV001854344 RCV001778704 RCV002288576 RCV001762199

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

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA012877

rs_267608151

5 SubmittersRCV000589847 RCV000630112 RCV002408601 RCV003452997

NM_000535.7(PMS2):c.903G>T (p.Lys301Asn)

SNV
Germline

Chr7:5995534

Likely pathogenic

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

Reviewed By Expert Panel

CA013203

rs_267608153

12 SubmittersRCV000076896 RCV000255696 RCV000215563 RCV000524483 RCV000778110 RCV001804828

NM_000535.7(PMS2):c.943C>T (p.Arg315Ter)

SNV
Germline

Chr7:5992018

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Colorectal cancer, non-polyposis
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Mismatch repair cancer syndrome 1
Lynch syndrome 4
Malignant tumor of breast
Gastric cancer

Reviewed By Expert Panel

CA013335

rs_200640585

20 SubmittersRCV000076901 RCV000115711 RCV000148734 RCV000212858 RCV000524484 RCV000576503 RCV000763587 RCV001354630 RCV003162501

NM_000535.7(PMS2):c.949C>T (p.Gln317Ter)

SNV
Germline

Chr7:5992012

Pathogenic

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

Reviewed By Expert Panel

CA013352

rs_143277125

7 SubmittersRCV000076902 RCV000570620 RCV001536747 RCV003325181 RCV000686600

NM_000535.7(PMS2):c.989-2A>G

SNV
Germline

Chr7:5989957

Likely pathogenic

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

Reviewed By Expert Panel

CA013438

rs_587779347

9 SubmittersRCV000076905 RCV000132347 RCV000531809 RCV001523837 RCV001556367 RCV003466969

NM_000179.3(MSH6):c.3203G>A (p.Arg1068Gln)

SNV
Germline

Chr2:47803450

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA011934

rs_398123230

15 SubmittersRCV000131252 RCV000168135 RCV000679234 RCV001083147 RCV001356423 RCV000217757

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_000540.3(RYR1):c.6359T>C (p.Met2120Thr)

SNV
Germline

Chr19:38494436

Conflicting classifications of pathogenicity

Condition: not provided
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
King Denborough syndrome
Congenital myopathy with fiber type disproportion
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
Meckel syndrome, type 6
Joubert syndrome 9
Meckel-Gruber syndrome
Familial aplasia of the vermis
Meckel syndrome, type 6
Condition: not provided
Joubert syndrome 9
CC2D2A-related disorder

Criteria Provided
Conflicting Classifications

CA150861

rs_187003641

8 SubmittersRCV000114170 RCV000176277 RCV000515156 RCV000636974 RCV001146036 RCV001719852 RCV001146035 RCV004529912

NM_000179.3(MSH6):c.1621A>C (p.Ser541Arg)

SNV
Germline

Chr2:47799604

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA008929

rs_587779778

3 SubmittersRCV000114750 RCV000129248 RCV003593911

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

5 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
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA022468

rs_104895022

7 SubmittersRCV000114837 RCV000115546 RCV000699802 RCV001800400 RCV003997208

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
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA011868

rs_63750948

6 SubmittersRCV000114847 RCV000629785 RCV001026384 RCV003320096 RCV003997209

NM_000179.3(MSH6):c.1106C>T (p.Thr369Ile)

SNV
Germline

Chr2:47799089

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA008045

rs_375974046

12 SubmittersRCV000115368 RCV000210148 RCV000212645 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
Hereditary cancer-predisposing syndrome
Lynch syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA008202

rs_147737737

9 SubmittersRCV000552028 RCV000570684 RCV000758608 RCV000985821 RCV002267855

NM_000179.3(MSH6):c.1241G>A (p.Trp414Ter)

SNV
Germline

Chr2:47799224

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA008355

rs_587779914

6 SubmittersRCV000115372 RCV000491836 RCV000506619 RCV000524659 RCV004019610

NM_000179.3(MSH6):c.1646C>A (p.Ser549Tyr)

SNV
Germline

Chr2:47799629

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA008999

rs_200447622

4 SubmittersRCV000115379 RCV000546737 RCV000575160 RCV003997235

NM_000179.3(MSH6):c.1746T>G (p.Phe582Leu)

SNV
Germline

Chr2:47799729

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA009115

rs_201518545

12 SubmittersRCV000115382 RCV000230963 RCV000235184 RCV000409045 RCV001192457 RCV003460812

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

8 SubmittersRCV000115383 RCV000233835 RCV000409692 RCV000562745 RCV001800402 RCV003997237

NM_000179.3(MSH6):c.190G>C (p.Ala64Pro)

SNV
Germline

Chr2:47783423

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA009439

rs_587779921

7 SubmittersRCV000214011 RCV000759850 RCV001041141 RCV004528799 RCV003997239

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
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome 5
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA009801

rs_148898662

9 SubmittersRCV000115388 RCV000212660 RCV000204867 RCV000781575 RCV000986720 RCV001798329

NM_000179.3(MSH6):c.2419G>A (p.Glu807Lys)

SNV
Germline/somatic

Chr2:47800402

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA010227

rs_587779923

13 SubmittersRCV000115390 RCV000199520 RCV000409470 RCV000491756 RCV000656895 RCV000708875 RCV000765687 RCV001249960 RCV004567001

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

Criteria Provided
Conflicting Classifications

CA010271

rs_587779924

10 SubmittersRCV000115391 RCV000412014 RCV000477204 RCV000588221 RCV003467040

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
Endometrial carcinoma
Lynch syndrome
not specified
Malignant tumor of breast

Criteria Provided
Conflicting Classifications

CA010333

rs_587779925

11 SubmittersRCV000115392 RCV000195931 RCV000212667 RCV000412127 RCV003460814 RCV003997241 RCV001193702 RCV001354925

NM_000179.3(MSH6):c.2780T>C (p.Ile927Thr)

SNV
Germline

Chr2:47800763

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA010911

rs_587779926

10 SubmittersRCV000115395 RCV000212671 RCV000206053 RCV000587183 RCV001253566 RCV003460815 RCV003997243

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA011628

rs_200492211

7 SubmittersRCV000490956 RCV000500240 RCV000544323 RCV000202056 RCV002288592

NM_000179.3(MSH6):c.3191C>T (p.Ala1064Val)

SNV
Germline

Chr2:47803438

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA011826

rs_369042519

7 SubmittersRCV000216009 RCV000691203 RCV000759861 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
Condition: not provided
Lynch syndrome 5
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA012092

rs_587779932

10 SubmittersRCV000168205 RCV000567226 RCV000656897 RCV000662609 RCV004567004 RCV003997247

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
Condition: not provided
Lynch syndrome 5
Mismatch repair cancer syndrome 1
Lynch syndrome
MSH6-related disorder

Criteria Provided
Conflicting Classifications

CA012253

rs_63750753

15 SubmittersRCV000115410 RCV000121584 RCV000168382 RCV000589544 RCV001808341 RCV001787917 RCV003997248 RCV004528800

NM_000179.3(MSH6):c.3283C>T (p.Arg1095Cys)

SNV
Germline

Chr2:47803530

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA012434

rs_376243329

17 SubmittersRCV000115413 RCV000121585 RCV000204658 RCV000412360 RCV000586502 RCV001080360 RCV001798330 RCV003460816

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

14 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

Criteria Provided
Conflicting Classifications

CA013090

rs_587779935

5 SubmittersRCV000115416 RCV000212684 RCV000819197 RCV003453035

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

Criteria Provided
Conflicting Classifications

CA013707

rs_182871847

16 SubmittersRCV000115418 RCV000579665 RCV000587059 RCV000662552 RCV001081821 RCV001357466 RCV003997250

NM_000179.3(MSH6):c.3727A>T (p.Thr1243Ser)

SNV
Germline

Chr2:47806284

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome
Carcinoma of colon
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
bilateral breast cancer
not specified
Condition: not provided
Inherited ovarian cancer (without breast cancer)

Criteria Provided
Conflicting Classifications

CA014099

rs_147453999

20 SubmittersRCV000115419 RCV000122966 RCV000212687 RCV000659895 RCV001081954 RCV001005027 RCV001358662 RCV000588959 RCV004584193

NM_000179.3(MSH6):c.3758T>A (p.Val1253Glu)

SNV
Germline

Chr2:47806315

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA014183

rs_202066386

15 SubmittersRCV000115421 RCV000212688 RCV000196523 RCV000656901 RCV001139791 RCV001355140 RCV003997251 RCV003467041

NM_000179.3(MSH6):c.3788G>A (p.Arg1263His)

SNV
Germline

Chr2:47806345

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA014284

rs_147852216

13 SubmittersRCV000121588 RCV000115423 RCV000662548 RCV000656903 RCV000764435 RCV001079217

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
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA014456

rs_150990541

12 SubmittersRCV000115424 RCV000119134 RCV000410495 RCV000656904 RCV001194392 RCV001354737 RCV004567006

NM_000179.3(MSH6):c.644T>G (p.Val215Gly)

SNV
Germline

Chr2:47798627

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA016108

rs_587779946

6 SubmittersRCV000115437 RCV001071512 RCV001190341 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
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA016246

rs_587779947

8 SubmittersRCV000115441 RCV000410116 RCV000466432 RCV000566072 RCV003467044 RCV003997255

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_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
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA004704

rs_587779951

9 SubmittersRCV000115454 RCV000222306 RCV000663036 RCV000813295 RCV001824610 RCV003997260

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

13 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

Criteria Provided
Conflicting Classifications

CA005155

rs_202038499

16 SubmittersRCV000115459 RCV000196112 RCV000254663 RCV000524234 RCV000662461 RCV001354082

NM_000249.4(MLH1):c.1558+5G>A

SNV
Germline/somatic

Chr3:37028937

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA005861

rs_199935667

13 SubmittersRCV000115461 RCV000515436 RCV000590226 RCV000758646 RCV000663109 RCV001086042 RCV001175375 RCV003149796

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
Colorectal cancer, hereditary nonpolyposis, type 2
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA006520

rs_56185292

15 SubmittersRCV000115465 RCV000121362 RCV000226023 RCV000411289 RCV000515241 RCV000656864 RCV003997263

NM_000251.3(MSH2):c.-3G>C

SNV
Germline

Chr2:47403189

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
MSH2-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA021130

rs_587779960

12 SubmittersRCV000115491 RCV000589085 RCV000410255 RCV001357931 RCV001854552 RCV004529929 RCV001818270

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

Criteria Provided
Conflicting Classifications

CA016891

rs_587779961

5 SubmittersRCV000115492 RCV000467692 RCV000562717 RCV004567008

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
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA017419

rs_374135434

11 SubmittersRCV000115496 RCV000212598 RCV000477595 RCV000663103 RCV001818271 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
Lynch syndrome 1
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA017617

rs_587779962

8 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
Lynch syndrome 1
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA018475

rs_148192104

10 SubmittersRCV000115502 RCV000222010 RCV000475133 RCV001527007 RCV003997270 RCV003460819 RCV004529930

NM_000251.3(MSH2):c.1582A>C (p.Lys528Gln)

SNV
Germline

Chr2:47466729

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA018669

rs_199744440

8 SubmittersRCV000115503 RCV000491225 RCV000463961 RCV000662996 RCV001354840 RCV003997271

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

Criteria Provided
Conflicting Classifications

CA018712

rs_587778523

13 SubmittersRCV000121559 RCV000122981 RCV000492001 RCV000662395 RCV000656878 RCV003997272

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

8 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
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Condition: not provided
Lynch syndrome
not specified
Carcinoma of colon

Criteria Provided
Conflicting Classifications

CA019432

rs_587779965

14 SubmittersRCV000115512 RCV000205979 RCV000411841 RCV000212611 RCV000708836 RCV001194001 RCV001355718

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.2801C>T (p.Thr934Met)

SNV
Germline

Chr2:47482945

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA020959

rs_587779969

10 SubmittersRCV000115524 RCV000212622 RCV000986691 RCV001357791 RCV003997276 RCV001086842 RCV001194031

NM_000251.3(MSH2):c.328A>C (p.Lys110Gln)

SNV
Germline

Chr2:47408517

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

CA021018

rs_587779970

9 SubmittersRCV000115526 RCV000475276 RCV000567258 RCV001269195 RCV003467047 RCV003997277

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

9 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
Endometrial carcinoma
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA021100

rs_145649774

15 SubmittersRCV000115528 RCV000195415 RCV000212583 RCV001353804 RCV001719858 RCV000524406 RCV000986649 RCV003492474

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
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA021136

rs_193096019

11 SubmittersRCV000115530 RCV000199902 RCV000217044 RCV000411543 RCV001175574 RCV003997279

NM_000251.3(MSH2):c.607G>A (p.Gly203Arg)

SNV
Germline

Chr2:47410334

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA021564

rs_587779973

8 SubmittersRCV000115536 RCV000221014 RCV000472250 RCV000409174 RCV003997280

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
Lynch syndrome 1
Mismatch repair cancer syndrome 2
Muir-Torré syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA021573

rs_63750574

9 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 nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA022070

rs_63751307

5 SubmittersRCV000115540 RCV000543104 RCV000567353 RCV003997282

NM_000251.3(MSH2):c.70C>T (p.Gln24Ter)

SNV
Germline

Chr2:47403261

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA022076

rs_587779976

8 SubmittersRCV000115541 RCV003453042 RCV002515795 RCV004017400 RCV000772129 RCV003479007

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
Hereditary nonpolyposis colorectal neoplasms
Malignant tumor of breast
Lynch-like syndrome
PMS2-related disorder
Breast and/or ovarian cancer
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA009076

rs_200513014

23 SubmittersRCV000115647 RCV000121835 RCV000415644 RCV000586586 RCV001080700 RCV001354576 RCV001249992 RCV003389688 RCV001798333 RCV003492485

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
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA009190

rs_141769057

9 SubmittersRCV000115649 RCV000220170 RCV000590932 RCV000586764 RCV001085405 RCV003315638

NM_000535.7(PMS2):c.1169C>T (p.Ala390Val)

SNV
Germline

Chr7:5987596

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA009271

rs_587780039

10 SubmittersRCV000115651 RCV000212859 RCV000229947 RCV001030722 RCV001199850 RCV003467050 RCV003421993 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

Criteria Provided
Conflicting Classifications

CA009404

rs_370752614

10 SubmittersRCV000123073 RCV000217417 RCV000586084 RCV000855654 RCV003460820 RCV003997286

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
Lynch syndrome 4
PMS2-related disorder

Criteria Provided
Conflicting Classifications

CA009466

rs_376042544

8 SubmittersRCV000115655 RCV000228417 RCV000565134 RCV003467051 RCV003415890

NM_000535.7(PMS2):c.1490G>A (p.Gly497Asp)

SNV
Germline

Chr7:5987275

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA009765

rs_199739859

18 SubmittersRCV000115659 RCV000121849 RCV000123081 RCV000656948 RCV000663092 RCV001354802

NM_000535.7(PMS2):c.1567T>A (p.Ser523Thr)

SNV
Germline

Chr7:5987198

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA009875

rs_63751132

17 SubmittersRCV000115661 RCV000121851 RCV000662627 RCV000656949 RCV001082540 RCV001357983 RCV002279936 RCV003149798 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
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA010408

rs_587780044

7 SubmittersRCV000115667 RCV000214212 RCV000559426 RCV001420821 RCV003997287 RCV004567012

NM_000535.7(PMS2):c.1937G>T (p.Arg646Met)

SNV
Germline

Chr7:5986828

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA010512

rs_372341850

10 SubmittersRCV000115668 RCV000195978 RCV000212864 RCV001844040 RCV004567013 RCV003997288

NM_000535.7(PMS2):c.2012C>T (p.Thr671Met)

SNV
Germline

Chr7:5982986

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA010720

rs_587780046

24 SubmittersRCV000115670 RCV000200451 RCV000212865 RCV000144642 RCV000488189 RCV000515168 RCV000987820 RCV003149799 RCV003483476

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

Criteria Provided
Conflicting Classifications

CA010735

rs_587780047

6 SubmittersRCV000115671 RCV000212866 RCV000547118 RCV004567014

NM_000535.7(PMS2):c.2108C>T (p.Thr703Met)

SNV
Germline

Chr7:5982890

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

CA010829

rs_370196722

13 SubmittersRCV000115673 RCV000456314 RCV000587414 RCV000662645 RCV000855604 RCV002505034

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

11 SubmittersRCV000115681 RCV000235199 RCV000457397 RCV001262165

NM_000535.7(PMS2):c.2350G>A (p.Asp784Asn)

SNV
Germline

Chr7:5977683

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA011325

rs_143340522

18 SubmittersRCV000206341 RCV000212871 RCV000115684 RCV001355417 RCV000411108 RCV000515369 RCV003415891 RCV000759201 RCV003149800

NM_000535.7(PMS2):c.2437C>T (p.Arg813Trp)

SNV
Germline

Chr7:5977596

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA011485

rs_375968016

12 SubmittersRCV000115687 RCV000196074 RCV000212874 RCV000656952 RCV003467055 RCV003153372 RCV003492487

NM_000535.7(PMS2):c.2523G>A (p.Trp841Ter)

SNV
Germline

Chr7:5973465

Conflicting classifications of pathogenicity

Lynch syndrome 4
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA048801

rs_587780057

6 SubmittersRCV000987818 RCV000586246 RCV002256045

NM_000535.7(PMS2):c.2T>C (p.Met1Thr)

SNV
Germline

Chr7:6009018

Pathogenic/Likely 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

10 SubmittersRCV000115692 RCV000461697 RCV000574743 RCV000662846 RCV001731380 RCV003162538 RCV004556719

NM_000535.7(PMS2):c.319C>T (p.Arg107Trp)

SNV
Germline

Chr7:6003724

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA011828

rs_188006077

8 SubmittersRCV000115693 RCV000465201 RCV000586637 RCV001174801 RCV003467056

NM_000535.7(PMS2):c.354-5C>G

SNV
Germline

Chr7:6002641

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA011959

rs_200591010

9 SubmittersRCV000115694 RCV000200031 RCV000212841 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
Lynch syndrome 4
Carcinoma of colon
not specified
PMS2-related disorder
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA012132

rs_142416537

15 SubmittersRCV000115696 RCV000123087 RCV000235195 RCV000765968 RCV000987848 RCV001355954 RCV002465515 RCV003952550 RCV003997290

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

Criteria Provided
Conflicting Classifications

CA012442

rs_374704824

17 SubmittersRCV000115699 RCV000123090 RCV000148736 RCV000212845 RCV000757678 RCV001079691 RCV000987846 RCV001798337 RCV003407497

NM_000535.7(PMS2):c.682G>A (p.Gly228Ser)

SNV
Germline

Chr7:5999131

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA012509

rs_376258383

13 SubmittersRCV000115700 RCV000212847 RCV000472958 RCV000663188 RCV001193815 RCV003492488

NM_000535.7(PMS2):c.823C>T (p.Gln275Ter)

SNV
Germline

Chr7:5995614

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA012937

rs_587780062

17 SubmittersRCV000115704 RCV000216292 RCV000552808 RCV000763589 RCV001264438 RCV000709755 RCV003997292

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
Mismatch repair cancer syndrome 4
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA013022

rs_116788608

18 SubmittersRCV000115706 RCV000121861 RCV000144656 RCV000197094 RCV000409948 RCV000588331 RCV000708992 RCV000765960 RCV001798338 RCV003326121

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
Lynch syndrome
PMS2-related disorder

Criteria Provided
Conflicting Classifications

CA013136

rs_563433235

7 SubmittersRCV000115708 RCV000168085 RCV000212854 RCV003315640 RCV003997293 RCV003407498

NM_000535.7(PMS2):c.916G>A (p.Val306Met)

SNV
Germline

Chr7:5992045

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA013247

rs_587780063

9 SubmittersRCV000115710 RCV000656943 RCV000469956 RCV001093686 RCV003460827 RCV003997295

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

Criteria Provided
Conflicting Classifications

CA287877

rs_146480420

13 SubmittersRCV000115770 RCV000123185 RCV000589651 RCV000664266

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

4 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

Criteria Provided
Multiple Submitters
No Conflicts

CA008538

rs_587780538

4 SubmittersRCV000519222 RCV000491356 RCV002514591 RCV003453048

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

Criteria Provided
Conflicting Classifications

CA011755

rs_587780559

7 SubmittersRCV000119240 RCV000129377 RCV000433737 RCV001357336 RCV003997308

NM_000540.3(RYR1):c.14210G>A (p.Arg4737Gln)

SNV
Germline

Chr19:38577955

Pathogenic

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

Reviewed By Expert Panel

CA024118

rs_193922868

10 SubmittersRCV000119503 RCV003231155 RCV001380753 RCV002498548

NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu)

SNV
Germline

Chr19:38586140

Likely pathogenic

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

Reviewed By Expert Panel

CA024276

rs_146876145

21 SubmittersRCV000119571 RCV000148804 RCV000554319 RCV000605381 RCV001249254 RCV001729396 RCV002505053

NM_000540.3(RYR1):c.1589G>A (p.Arg530His)

SNV
Germline

Chr19:38455463

Likely pathogenic

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

Reviewed By Expert Panel

CA024291

rs_111888148

17 SubmittersRCV000119576 RCV000148805 RCV001249073 RCV000655554 RCV001449797

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
methoxyflurane response - Toxicity
sevoflurane response - Toxicity
succinylcholine response - Toxicity
desflurane response - Toxicity
halothane response - Toxicity
enflurane response - Toxicity
isoflurane response - Toxicity
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion
Central core myopathy
King Denborough syndrome

Reviewed By Expert Panel

CA024313

rs_193922772

7 SubmittersRCV000119587 RCV001068141 RCV001705880 RCV002222024 RCV002222025 RCV002222026 RCV002222020 RCV002222022 RCV002222021 RCV002222023 RCV002477305

NM_000540.3(RYR1):c.5183C>T (p.Ser1728Phe)

SNV
Germline

Chr19:38485838

Likely pathogenic

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

Reviewed By Expert Panel

CA024494

rs_193922781

14 SubmittersRCV000119633 RCV000148807 RCV001057054 RCV001449805 RCV001265978 RCV002505055

NM_000540.3(RYR1):c.5988C>T (p.Arg1996=)

SNV
Germline

Chr19:38490249

Likely pathogenic

Condition: not provided
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1
Central core myopathy
King Denborough syndrome

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
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1
Congenital myopathy with fiber type disproportion
Central core myopathy
King Denborough syndrome
Malignant hyperthermia of anesthesia

Reviewed By Expert Panel

CA024651

rs_193922797

12 SubmittersRCV000119670 RCV000185536 RCV000502398 RCV000691232 RCV002492409 RCV003323407

NM_000540.3(RYR1):c.7282G>A (p.Ala2428Thr)

SNV
Germline

Chr19:38499975

Likely pathogenic; drug response

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

Reviewed By Expert Panel

CA024738

rs_193922809

13 SubmittersRCV000119695 RCV001127650 RCV001127649 RCV001236218 RCV001788011 RCV001788012 RCV001788013 RCV001788007 RCV001788009 RCV001127651 RCV002492410 RCV004019662 RCV001788008 RCV001788010 RCV004556734

NM_006941.4(SOX10):c.1127C>G (p.Ser376Ter)

SNV
Not provided

Chr22:37973769

Likely pathogenic

PCWH syndrome

Criteria Provided
Single Submitter

CA156405

rs_483353058

1 SubmittersRCV000119813

NM_022552.5(DNMT3A):c.131C>T (p.Thr44Met)

SNV
Germline

Chr2:25300185

Conflicting classifications of pathogenicity

not specified
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A-related disorder

Criteria Provided
Conflicting Classifications

CA158313

rs_199643287

3 SubmittersRCV000120652 RCV000700793 RCV003407510

NM_000249.4(MLH1):c.52C>T (p.Arg18Cys)

SNV
Germline

Chr3:36993599

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA010776

rs_367654552

18 SubmittersRCV000121355 RCV000130101 RCV000199110 RCV000410307 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
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA021548

rs_587778521

11 SubmittersRCV000121557 RCV000168363 RCV000561626 RCV000410801 RCV000512708 RCV003997346

NM_000251.3(MSH2):c.208G>A (p.Ala70Thr)

SNV
Germline

Chr2:47403399

Conflicting classifications of pathogenicity

not specified
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
MSH2-related disorder
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA019989

rs_587778522

8 SubmittersRCV000121558 RCV000808087 RCV000771511 RCV003997347 RCV004528832 RCV004567049

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
Condition: not provided
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA018761

rs_587778524

6 SubmittersRCV000121560 RCV000472209 RCV000569681 RCV001588967 RCV003460853

NM_000251.3(MSH2):c.2545C>G (p.Leu849Val)

SNV
Germline

Chr2:47480782

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA020700

rs_587778527

5 SubmittersRCV000121565 RCV000820212 RCV002221491 RCV002426668 RCV003997349

NM_000251.3(MSH2):c.220A>C (p.Asn74His)

SNV
Germline

Chr2:47408409

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA020232

rs_150548839

12 SubmittersRCV000121566 RCV000409685 RCV000571485 RCV000230947 RCV000587188 RCV003483487 RCV003997350 RCV002477316

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.1063G>A (p.Gly355Ser)

SNV
Germline

Chr2:47799046

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA007937

rs_587778531

13 SubmittersRCV000121578 RCV000130273 RCV000515340 RCV000588001 RCV000409146 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
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Condition: not provided
Lynch syndrome
Lynch-like syndrome
Carcinoma of colon
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA009094

rs_376220212

17 SubmittersRCV000121579 RCV000131162 RCV000204422 RCV000410866 RCV000587914 RCV000708870 RCV001249972 RCV001355523 RCV001762265

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
Lynch syndrome 5
Condition: not provided
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA012103

rs_376452612

13 SubmittersRCV000121586 RCV000200854 RCV000214188 RCV000663151 RCV000590417 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
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA014193

rs_202066386

14 SubmittersRCV000121589 RCV000160698 RCV000206271 RCV000411602 RCV000656902 RCV003997354 RCV003460856

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

11 SubmittersRCV000121841 RCV000129033 RCV000195850 RCV001164192 RCV001719888

NM_000535.7(PMS2):c.1687C>T (p.Arg563Ter)

SNV
Germline

Chr7:5987078

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA010032

rs_587778618

14 SubmittersRCV000121846 RCV000132169 RCV000222921 RCV000530464 RCV001356008 RCV002288610 RCV003155080 RCV003997356 RCV002483226

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

15 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
Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Hereditary breast ovarian cancer syndrome
Hereditary nonpolyposis colorectal neoplasms
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA012369

rs_587778620

8 SubmittersRCV000121858 RCV000570676 RCV000412111 RCV001030724 RCV001244956 RCV003153398

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_000377.3(WAS):c.391G>A (p.Glu131Lys)

SNV
Germline

ChrX:48685764

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA162684

rs_146220228

10 SubmittersRCV000122268 RCV000514559 RCV000990810 RCV001081710 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
Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA162686

rs_139265251

4 SubmittersRCV000122269 RCV001261849 RCV000862741 RCV003436938

NM_024426.6(WT1):c.760C>T (p.Pro254Ser)

SNV
Germline

Chr11:32428521

Conflicting classifications of pathogenicity

not specified
Meacham syndrome
Nephrotic syndrome, type 4
Condition: not provided
Drash syndrome
Frasier syndrome
Wilms tumor 1
11p partial monosomy syndrome
Wilms tumor 1
Hereditary cancer-predisposing syndrome
WT1-related disorder
Microscopic hematuria
Nephroblastoma

Criteria Provided
Conflicting Classifications

CA016444

rs_2234584

15 SubmittersRCV000122310 RCV001107941 RCV001107942 RCV000782221 RCV001081231 RCV001107940 RCV002255305 RCV004551194 RCV002284191 RCV003588578

NM_024426.6(WT1):c.1154G>A (p.Arg385Gln)

SNV
Germline

Chr11:32396367

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA016505

rs_147241955

5 SubmittersRCV000122313 RCV000231832 RCV001107195 RCV001107197 RCV001107196 RCV003460864

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
Breast and/or ovarian cancer
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA008638

rs_35590297

22 SubmittersRCV000126826 RCV000202140 RCV000600196 RCV000679214 RCV001356260 RCV001798401 RCV001084470 RCV003997396

NM_000179.3(MSH6):c.1599G>C (p.Glu533Asp)

SNV
Germline

Chr2:47799582

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA008846

rs_373726731

12 SubmittersRCV000122952 RCV000218729 RCV000219239 RCV000411179 RCV000524115 RCV000780476 RCV003492534 RCV003460868

NM_000179.3(MSH6):c.2384T>C (p.Ile795Thr)

SNV
Germline

Chr2:47800367

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA010164

rs_202127474

15 SubmittersRCV000160681 RCV000172814 RCV000412250 RCV000588994 RCV001084037 RCV003149835 RCV003493450

NM_000179.3(MSH6):c.3151G>A (p.Val1051Ile)

SNV
Germline

Chr2:47801134

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA011639

rs_576269342

14 SubmittersRCV000132157 RCV000408980 RCV000588824 RCV001030498 RCV001796965 RCV001257068 RCV001355067 RCV003492535 RCV004528840

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
not specified
Malignant tumor of breast
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA012231

rs_63750998

13 SubmittersRCV000122963 RCV000128933 RCV000411062 RCV000587527 RCV001255217 RCV001354177 RCV003149837

NM_000179.3(MSH6):c.628-7C>A

SNV
Germline

Chr2:47798604

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA016029

rs_373129248

16 SubmittersRCV000411528 RCV000588337 RCV000580986 RCV001080866 RCV001356719 RCV001818293

NM_000249.4(MLH1):c.42A>C (p.Thr14=)

SNV
Germline

Chr3:36993589

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Malignant tumor of breast
MLH1-related disorder
Breast and/or ovarian cancer
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA010370

rs_369737664

13 SubmittersRCV000126779 RCV000212511 RCV001147828 RCV001081345 RCV000585926 RCV001358331 RCV003975092 RCV003492536 RCV003997404

NM_000251.3(MSH2):c.166G>A (p.Glu56Lys)

SNV
Germline

Chr2:47403357

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
not specified
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

CA018954

rs_587779102

9 SubmittersRCV000122982 RCV000235661 RCV000580136 RCV000657006 RCV003460870 RCV003997405 RCV002477321

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

Criteria Provided
Conflicting Classifications

CA019664

rs_587780685

4 SubmittersRCV000122984 RCV001013915 RCV003997406

NM_000251.3(MSH2):c.2458+8C>G

SNV
Germline

Chr2:47478527

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
not specified
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Breast and/or ovarian cancer
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA020612

rs_189025757

11 SubmittersRCV000122985 RCV000202181 RCV000580893 RCV000411107 RCV003492537 RCV004530048

NM_000251.3(MSH2):c.2615A>G (p.Lys872Arg)

SNV
Germline

Chr2:47480852

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA020814

rs_587780686

8 SubmittersRCV000122987 RCV000411448 RCV000563636 RCV003149838 RCV002469017 RCV003997407

NM_000251.3(MSH2):c.2717T>C (p.Ile906Thr)

SNV
Germline

Chr2:47482861

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Condition: not provided
See cases
Lynch syndrome
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA020898

rs_587780687

11 SubmittersRCV000122988 RCV000573859 RCV000412095 RCV001558333 RCV002251992 RCV003997408 RCV004542928

NM_000251.3(MSH2):c.336C>A (p.Ser112=)

SNV
Germline

Chr2:47408525

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

CA021025

rs_34312619

11 SubmittersRCV000163093 RCV000420474 RCV000590813 RCV001082839 RCV000662370 RCV003997409

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
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA022370

rs_146577635

12 SubmittersRCV000160641 RCV000212592 RCV000586418 RCV001082291 RCV001139365

NM_000251.3(MSH2):c.835C>G (p.Leu279Val)

SNV
Germline

Chr2:47414311

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA022395

rs_375351205

14 SubmittersRCV000122993 RCV000131260 RCV000237042 RCV000409770 RCV000656875 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

Criteria Provided
Conflicting Classifications

CA009542

rs_587780722

6 SubmittersRCV000123075 RCV000572231 RCV002466437 RCV003997413

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
Condition: not provided
not specified
Lynch syndrome 4
Breast and/or ovarian cancer
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA009651

rs_373114291

10 SubmittersRCV000123078 RCV000131575 RCV000479914 RCV001824617 RCV001775084 RCV003149840 RCV003997415

NM_000535.7(PMS2):c.1556A>G (p.Tyr519Cys)

SNV
Germline

Chr7:5987209

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA009843

rs_63750649

16 SubmittersRCV000132386 RCV000410304 RCV000515260 RCV000780619 RCV000483157 RCV001085962 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

10 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
not specified
Lynch syndrome 4
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Condition: not provided
Malignant tumor of breast
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA012032

rs_116373169

20 SubmittersRCV000128980 RCV000200993 RCV000662720 RCV000758689 RCV001084082 RCV001093681 RCV000587673 RCV001356925 RCV003492544

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 4
Lynch syndrome
Lynch syndrome
Mismatch repair cancer syndrome 4

Criteria Provided
Conflicting Classifications

CA013151

rs_182246929

10 SubmittersRCV000123094 RCV000165443 RCV000487208 RCV002267863 RCV003460871 RCV003997419 RCV003483489

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
not specified
Mitochondrial complex IV deficiency, nuclear type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA203461

rs_62052075

8 SubmittersRCV000265719 RCV000179820 RCV000361435 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
Condition: not provided
Leigh syndrome
Mitochondrial complex IV deficiency, nuclear type 1
Mitochondrial complex 4 deficiency, nuclear type 3

Criteria Provided
Conflicting Classifications

CA290464

rs_111541535

4 SubmittersRCV000124567 RCV000961080 RCV001127831 RCV001127832 RCV001802947

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
Leigh syndrome
Condition: not provided
Pyruvate dehydrogenase complex deficiency
Pyruvate dehydrogenase E3 deficiency

Criteria Provided
Conflicting Classifications

CA303053

rs_61749952

12 SubmittersRCV000179714 RCV000261104 RCV000676800 RCV000388010 RCV000999887

NM_000251.3(MSH2):c.1560A>G (p.Gly520=)

SNV
Germline

Chr2:47466707

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA018604

rs_63750820

16 SubmittersRCV000126813 RCV000212603 RCV000662509 RCV000524346 RCV001356577 RCV001815198 RCV003492569 RCV003997440 RCV004532521

NM_000251.3(MSH2):c.2205C>T (p.Ile735=)

SNV
Germline

Chr2:47476566

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA020227

rs_533553381

16 SubmittersRCV000126821 RCV000212617 RCV000323210 RCV000409899 RCV000590738 RCV001083829 RCV003149864

NM_000179.3(MSH6):c.1665A>G (p.Ala555=)

SNV
Germline

Chr2:47799648

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA009022

rs_146785465

16 SubmittersRCV000126827 RCV000212650 RCV000586048 RCV000662603 RCV001084346 RCV003492571 RCV003997443

NM_000179.3(MSH6):c.4002-14T>C

SNV
Germline

Chr2:47806765

Conflicting classifications of pathogenicity

not specified
Lynch syndrome 5
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA015255

rs_587781041

6 SubmittersRCV000126837 RCV000409445 RCV000776217 RCV003997445

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

Criteria Provided
Conflicting Classifications

CA292482

rs_192949406

5 SubmittersRCV000127139 RCV000388644 RCV000296747 RCV000888456

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, nuclear type 1
Mitochondrial complex I deficiency
Leigh syndrome
Mitochondrial complex 1 deficiency, nuclear type 5
NDUFS1-related disorder

Criteria Provided
Conflicting Classifications

CA232547

rs_78042826

12 SubmittersRCV000195297 RCV000513877 RCV001143218 RCV000605317 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
Condition: not provided
Mitochondrial complex 1 deficiency, nuclear type 5

Criteria Provided
Conflicting Classifications

CA292489

rs_2230892

6 SubmittersRCV000127145 RCV000298259 RCV000399898 RCV000676270 RCV001000338

NM_004551.3(NDUFS3):c.591T>C (p.Pro197=)

SNV
Germline

Chr11:47582432

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Mitochondrial complex 1 deficiency, nuclear type 8
Mitochondrial complex I deficiency, nuclear type 1
Leigh syndrome

Criteria Provided
Conflicting Classifications

CA292502

rs_77113494

7 SubmittersRCV000127155 RCV000969794 RCV001000472 RCV001107482 RCV001107483

NM_004551.3(NDUFS3):c.628-7C>T

SNV
Germline

Chr11:47584307

Conflicting classifications of pathogenicity

not specified
Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 1
Condition: not provided
Mitochondrial complex 1 deficiency, nuclear type 8

Criteria Provided
Conflicting Classifications

CA292504

rs_11039306

5 SubmittersRCV000127156 RCV000292090 RCV000383892 RCV000964320 RCV003114278

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
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Malignant tumor of breast
Breast and/or ovarian cancer
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA009868

rs_201167814

18 SubmittersRCV000127461 RCV000162432 RCV000487654 RCV001079708 RCV001159293 RCV001357279 RCV001798425 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
Lynch syndrome 4
Hereditary nonpolyposis colorectal neoplasms
Malignant tumor of breast
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA011039

rs_373630535

20 SubmittersRCV000127465 RCV000162439 RCV000197459 RCV000590780 RCV000662897 RCV001079494 RCV001355979 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
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Condition: not provided
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
not specified
Lynch-like syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA004510

rs_63750430

16 SubmittersRCV000128876 RCV000232561 RCV000409286 RCV000657135 RCV000764490 RCV000484459 RCV001249936 RCV003997466

NM_000179.3(MSH6):c.107C>T (p.Ala36Val)

SNV
Germline

Chr2:47783340

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA007963

rs_61756469

16 SubmittersRCV000128922 RCV000226897 RCV000220784 RCV000412094 RCV000780475 RCV001356921 RCV003149883 RCV003323293 RCV003153411 RCV004532539

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 5
Condition: not provided
Lynch syndrome
Endometrial carcinoma
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA016410

rs_587781275

14 SubmittersRCV000128926 RCV000168003 RCV000202238 RCV000410809 RCV000656890 RCV000761137 RCV003467099 RCV003492580

NM_000251.3(MSH2):c.775C>T (p.Pro259Ser)

SNV
Germline

Chr2:47412543

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA022230

rs_587781294

12 SubmittersRCV000128997 RCV000228319 RCV000235651 RCV000759122 RCV001269353 RCV003997470 RCV003333736 RCV004532540

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

Criteria Provided
Conflicting Classifications

CA010461

rs_587781306

4 SubmittersRCV000129021 RCV000557524 RCV003997471

NM_000535.7(PMS2):c.-7T>C

SNV
Germline

Chr7:6009026

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA012861

rs_199660792

11 SubmittersRCV000129024 RCV000293218 RCV000254679 RCV001356694 RCV003477536 RCV002514707 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
Condition: not provided
Lynch syndrome 5
not specified
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA009950

rs_199876321

15 SubmittersRCV000129031 RCV000195792 RCV000657020 RCV000662484 RCV001002443 RCV003460882 RCV003997472

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
Condition: not provided
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA018364

rs_587781314

12 SubmittersRCV000129044 RCV000199801 RCV000656877 RCV000662760 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
Hereditary nonpolyposis colon cancer
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA010800

rs_587781317

9 SubmittersRCV000129052 RCV000214144 RCV000234750 RCV003389702 RCV003453059

NM_000179.3(MSH6):c.2776C>T (p.Leu926Phe)

SNV
Germline

Chr2:47800759

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA010886

rs_587781318

7 SubmittersRCV000129055 RCV000205831 RCV000212670 RCV003398753 RCV003997476

NM_000251.3(MSH2):c.1347G>C (p.Lys449Asn)

SNV
Germline

Chr2:47445618

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA018049

rs_587781331

9 SubmittersRCV000129078 RCV000210120 RCV000524342 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 colon cancer
Condition: not provided
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA014077

rs_63750119

13 SubmittersRCV000129081 RCV000230170 RCV000485282 RCV000663091 RCV001034637 RCV003997478 RCV003460886

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
Condition: not provided
Lynch syndrome 4
Mismatch repair cancer syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA013226

rs_587781339

8 SubmittersRCV000129110 RCV000206112 RCV000576592 RCV002465529 RCV002492494

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
Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Conflicting Classifications

CA008808

rs_587781342

6 SubmittersRCV000129119 RCV000823517 RCV001800424 RCV003997480 RCV004567078

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

Criteria Provided
Conflicting Classifications

CA018266

rs_587781346

7 SubmittersRCV000129124 RCV000210186 RCV000688403 RCV003477537

NM_000179.3(MSH6):c.2482G>A (p.Val828Ile)

SNV
Germline

Chr2:47800465

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Lynch syndrome
MSH6-related disorder

Criteria Provided
Conflicting Classifications

CA010298

rs_587781349

6 SubmittersRCV000129131 RCV000226891 RCV001140447 RCV003997483 RCV004532546

NM_000179.3(MSH6):c.2932C>T (p.Gln978Ter)

SNV
Germline

Chr2:47800915

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA011127

rs_587781372

6 SubmittersRCV000129185 RCV000202022 RCV003453060 RCV001849919

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

Criteria Provided
Conflicting Classifications

CA009484

rs_587781382

7 SubmittersRCV000129211 RCV000232320 RCV000486562 RCV003235051 RCV003997486

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
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA020808

rs_587781447

8 SubmittersRCV000129363 RCV000233259 RCV000212581 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

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome 1
Lynch syndrome 5
Rhabdomyosarcoma
Carcinoma of colon
Hereditary nonpolyposis colon cancer

Reviewed By Expert Panel

CA009983

rs_587781462

11 SubmittersRCV000129397 RCV000477388 RCV000501569 RCV000622945 RCV000410431 RCV001257543 RCV001353758 RCV001251301

NM_000251.1(MSH2):c.-179C>T

SNV
Germline

Chr2:47403013

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA021764

rs_17224094

3 SubmittersRCV000129414 RCV000410292 RCV000679280

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_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

Criteria Provided
Conflicting Classifications

CA011774

rs_587781505

9 SubmittersRCV000129480 RCV000529021 RCV001030626 RCV002285268 RCV001290582 RCV003153416 RCV003997505

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

Criteria Provided
Conflicting Classifications

CA016638

rs_587781510

11 SubmittersRCV000129487 RCV000168210 RCV000216085 RCV000589579 RCV000662957 RCV000708859

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
not specified
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA013509

rs_369778514

9 SubmittersRCV000129582 RCV000411815 RCV000479516 RCV000780465 RCV000810760 RCV003460896 RCV003997512

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

Criteria Provided
Conflicting Classifications

CA011400

rs_587781593

9 SubmittersRCV000129648 RCV000459156 RCV000480608 RCV001354619 RCV003315879 RCV003997514 RCV004567091

NM_004168.4(SDHA):c.969C>T (p.Gly323=)

SNV
Germline

Chr5:233550

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary pheochromocytoma-paraganglioma
Mitochondrial complex II deficiency, nuclear type 1
Paragangliomas 5
Mitochondrial complex II deficiency, nuclear type 1
Leigh syndrome
Condition: not provided
Paragangliomas 5

Criteria Provided
Conflicting Classifications

CA345710

rs_142849100

15 SubmittersRCV000129664 RCV000246464 RCV000399972 RCV000314076 RCV000203785 RCV000362684 RCV001357190 RCV003315880

NM_000179.3(MSH6):c.1814C>G (p.Thr605Ser)

SNV
Germline

Chr2:47799797

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA009251

rs_587781616

11 SubmittersRCV000129705 RCV000200701 RCV000708871 RCV000587763 RCV000765684 RCV004567094

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
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome
not specified

Criteria Provided
Conflicting Classifications

CA018091

rs_587781627

8 SubmittersRCV000129729 RCV000460057 RCV000588274 RCV000761179 RCV002267870

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
Lynch syndrome 5
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA011081

rs_63749919

7 SubmittersRCV000129763 RCV000204094 RCV000410024 RCV002288628 RCV003997522

NM_000179.3(MSH6):c.3244C>T (p.Pro1082Ser)

SNV
Germline

Chr2:47803491

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA012124

rs_186240214

11 SubmittersRCV000129766 RCV000409325 RCV000464994 RCV000515187 RCV000586138 RCV001175358 RCV003153418 RCV003467119 RCV003997523

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
not specified
Endometrial carcinoma
MSH6-related disorder

Criteria Provided
Conflicting Classifications

CA015298

rs_564434147

13 SubmittersRCV000129804 RCV000204360 RCV000409369 RCV000656905 RCV001375525 RCV003467121 RCV004532553

NM_000179.3(MSH6):c.3111C>A (p.Phe1037Leu)

SNV
Germline

Chr2:47801094

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA011575

rs_587781673

6 SubmittersRCV000129832 RCV000221076 RCV000410297 RCV001298939 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
Lynch syndrome
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA020596

rs_587781678

8 SubmittersRCV000129838 RCV000168339 RCV000482932 RCV003335115 RCV003997529 RCV004532554

NM_000535.7(PMS2):c.1688G>A (p.Arg563Gln)

SNV
Germline

Chr7:5987077

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA010059

rs_63750668

11 SubmittersRCV000129896 RCV000478617 RCV000662634 RCV001081618 RCV001193855

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.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
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA004033

rs_587781750

9 SubmittersRCV000129956 RCV000196459 RCV000411750 RCV001568035 RCV003226208 RCV003997537

NM_000179.3(MSH6):c.677A>G (p.Glu226Gly)

SNV
Germline

Chr2:47798660

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA016211

rs_587781777

7 SubmittersRCV000130018 RCV000410453 RCV000804545 RCV003997541

NM_000251.3(MSH2):c.409G>C (p.Gly137Arg)

SNV
Germline

Chr2:47410136

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA021142

rs_587781795

12 SubmittersRCV000130057 RCV000196356 RCV000202282 RCV000679311 RCV001355466 RCV001798439 RCV003997545

NM_000535.7(PMS2):c.823C>G (p.Gln275Glu)

SNV
Germline

Chr7:5995614

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA012928

rs_587780062

9 SubmittersRCV000130089 RCV000411073 RCV000486746 RCV001079273 RCV002265615 RCV003997548

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 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA020655

rs_41295296

7 SubmittersRCV000130169 RCV000198710 RCV000520077 RCV003460914 RCV003997554

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

Criteria Provided
Conflicting Classifications

CA010487

rs_139598980

8 SubmittersRCV000130173 RCV000222583 RCV000238642 RCV000524147 RCV003317097

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
not specified
Breast and/or ovarian cancer
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA010772

rs_587781909

11 SubmittersRCV000130250 RCV000222360 RCV000230692 RCV001251272 RCV001798443 RCV003467136

NM_000535.7(PMS2):c.961G>A (p.Val321Ile)

SNV
Germline

Chr7:5992000

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA013376

rs_377043696

7 SubmittersRCV000130331 RCV000222996 RCV000206806 RCV001193814 RCV003460921

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

Criteria Provided
Conflicting Classifications

CA016780

rs_587781983

11 SubmittersRCV000130382 RCV000212639 RCV000475028 RCV000986711 RCV003460924

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
not specified
Condition: not provided
Lynch syndrome
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA020155

rs_587781996

11 SubmittersRCV000130409 RCV000168465 RCV000487305 RCV000509191 RCV003998056 RCV004532559

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
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA011165

rs_573900018

9 SubmittersRCV000130505 RCV000203735 RCV000441367 RCV001080492 RCV000662656

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

Criteria Provided
Multiple Submitters
No Conflicts

CA011233

rs_587782074

6 SubmittersRCV000130565 RCV000479138 RCV000529500 RCV003453076 RCV004556742

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
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA010478

rs_41294986

8 SubmittersRCV000130571 RCV000235178 RCV000475467 RCV001527050 RCV003998064 RCV004567118

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

10 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

4 SubmittersRCV000130615 RCV001219936 RCV001356288 RCV003998069

NM_000179.3(MSH6):c.3832C>A (p.Pro1278Thr)

SNV
Germline

Chr2:47806482

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA014466

rs_587782109

9 SubmittersRCV000130625 RCV000589175 RCV001086478 RCV001260255 RCV003998071

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

7 SubmittersRCV000131137 RCV000464371 RCV000481281 RCV003447501 RCV003998086

NM_000179.3(MSH6):c.1364A>C (p.Asn455Thr)

SNV
Germline

Chr2:47799347

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA008530

rs_200938360

11 SubmittersRCV000131161 RCV000196009 RCV000409980 RCV000524107 RCV000590712 RCV001355650 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

Criteria Provided
Conflicting Classifications

CA015926

rs_587782315

5 SubmittersRCV000131212 RCV000477097 RCV002510790 RCV003998091

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

Criteria Provided
Conflicting Classifications

CA011320

rs_374748889

10 SubmittersRCV000131214 RCV000199508 RCV000588323 RCV001818322 RCV003492616 RCV004532569

NM_000179.3(MSH6):c.3014G>A (p.Arg1005Gln)

SNV
Germline

Chr2:47800997

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA011349

rs_587782324

7 SubmittersRCV000131231 RCV000764426 RCV001060704 RCV001290553 RCV003998092 RCV004567127

NM_000535.7(PMS2):c.2007-2A>C

SNV
Germline

Chr7:5982993

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA010693

rs_587782336

3 SubmittersRCV000131264 RCV000818298 RCV003453081

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
not specified
Lynch syndrome 4
Condition: not provided
Endometrial carcinoma
Breast and/or ovarian cancer
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA009586

rs_150201462

14 SubmittersRCV000131270 RCV000477201 RCV000483100 RCV000662638 RCV000767041 RCV001353427 RCV003492618 RCV003998095

NM_000179.3(MSH6):c.1376C>G (p.Ser459Cys)

SNV
Germline

Chr2:47799359

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA008555

rs_587782346

6 SubmittersRCV000131285 RCV000479474 RCV000548616 RCV002509239 RCV003998097

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

Criteria Provided
Conflicting Classifications

CA008866

rs_587782352

4 SubmittersRCV000131295 RCV000693545 RCV003998099

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
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA018773

rs_587782354

6 SubmittersRCV000131300 RCV000212579 RCV000545235 RCV003998100 RCV004567130

NM_000251.3(MSH2):c.1530G>T (p.Gln510His)

SNV
Germline

Chr2:47466677

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA018566

rs_587782355

5 SubmittersRCV000131303 RCV003315905 RCV000823121

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
not specified
Malignant tumor of breast
Hereditary nonpolyposis colon cancer

Criteria Provided
Conflicting Classifications

CA016133

rs_554012110

15 SubmittersRCV000131354 RCV000167904 RCV000212632 RCV000411184 RCV000708856 RCV001193124 RCV001355774 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
Carcinoma of colon
not specified
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA011096

rs_587782386

7 SubmittersRCV000131393 RCV000212673 RCV000630013 RCV001355155 RCV001818325 RCV003462013 RCV003998102

NM_000251.3(MSH2):c.2178G>C (p.Met726Ile)

SNV
Germline

Chr2:47476539

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA020172

rs_587782396

12 SubmittersRCV000131413 RCV000227062 RCV000486473 RCV000524379 RCV000767207 RCV003467174 RCV004532570 RCV003998103

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_000179.3(MSH6):c.491A>C (p.His164Pro)

SNV
Germline

Chr2:47795927

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA015726

rs_146469162

11 SubmittersRCV000131540 RCV000212631 RCV000656888 RCV000662620 RCV001085010 RCV004544299

NM_000535.7(PMS2):c.1399G>A (p.Val467Ile)

SNV
Germline/somatic

Chr7:5987366

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA009624

rs_373611083

11 SubmittersRCV000131574 RCV000457616 RCV000656947 RCV001249988 RCV003149908 RCV003894996 RCV003998108

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.2827G>T (p.Asp943Tyr)

SNV
Germline

Chr2:47800810

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA010974

rs_143520357

8 SubmittersRCV000131640 RCV000212672 RCV000205918 RCV000412088 RCV001356309

NM_000179.3(MSH6):c.2027A>G (p.Lys676Arg)

SNV
Germline

Chr2:47800010

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA009570

rs_143643688

9 SubmittersRCV000131641 RCV000204601 RCV000212656 RCV000410949 RCV001354229 RCV003462017

NM_000179.3(MSH6):c.713C>A (p.Ser238Tyr)

SNV
Germline

Chr2:47798696

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA016318

rs_587782510

10 SubmittersRCV000131657 RCV000214572 RCV000410793 RCV000472070 RCV000656889 RCV003467180 RCV003998114

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
Lynch syndrome 1
Condition: not provided
Lynch syndrome
not specified

Criteria Provided
Conflicting Classifications

CA022651

rs_4987188

13 SubmittersRCV000131668 RCV000203979 RCV000410421 RCV000482522 RCV001357874 RCV003150951

NM_000179.3(MSH6):c.698C>G (p.Pro233Arg)

SNV
Germline

Chr2:47798681

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

CA016269

rs_142949377

8 SubmittersRCV000131704 RCV000212633 RCV000557767 RCV000663288 RCV003467182 RCV003998115

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
Condition: not provided
Lynch syndrome 4
Mismatch repair cancer syndrome 1
Lynch syndrome 4
not specified
Endometrial carcinoma
Hereditary breast ovarian cancer syndrome
Hereditary nonpolyposis colon cancer

Criteria Provided
Conflicting Classifications

CA009419

rs_138387687

17 SubmittersRCV000131757 RCV000198383 RCV000586259 RCV000987834 RCV001535477 RCV000855605 RCV001355081 RCV002275085 RCV003323294

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
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1
Lynch syndrome
not specified

Criteria Provided
Conflicting Classifications

CA022444

rs_587782567

8 SubmittersRCV000131790 RCV000688511 RCV000588299 RCV003467187 RCV003998117 RCV000855651

NM_004168.4(SDHA):c.91C>T (p.Arg31Ter)

SNV
Germline

Chr5:223509

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Paragangliomas 5
Carney triad
Mitochondrial complex II deficiency, nuclear type 1
Paragangliomas 5
Condition: not provided
Pilocytic astrocytoma
Leigh syndrome
Mitochondrial complex II deficiency, nuclear type 1
Gastrointestinal stromal tumor
Rhabdomyosarcoma
Dilated cardiomyopathy 1GG
Mitochondrial complex II deficiency, nuclear type 1
Paragangliomas 5
Neurodegeneration with ataxia and late-onset optic atrophy
Neurodegeneration with ataxia and late-onset optic atrophy
SDHA-related disorder
Dilated cardiomyopathy 1GG

Criteria Provided
Multiple Submitters
No Conflicts

CA168793

rs_142441643

39 SubmittersRCV000131808 RCV000148026 RCV000170328 RCV000627791 RCV000413945 RCV000722034 RCV001089554 RCV001762318 RCV001799624 RCV001257553 RCV002478402 RCV003330507 RCV003335126 RCV003474779

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

6 SubmittersRCV000131937 RCV000578967 RCV001046832 RCV003453087 RCV003313781

NM_000535.7(PMS2):c.1481C>T (p.Ser494Leu)

SNV
Germline

Chr7:5987284

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA009752

rs_587782602

10 SubmittersRCV000131960 RCV000168413 RCV000223568 RCV000662631 RCV001193253 RCV003998124

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
Hereditary nonpolyposis colon cancer
Lynch syndrome 1
Mismatch repair cancer syndrome 1
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA013182

rs_141577476

12 SubmittersRCV000131992 RCV000475400 RCV000521392 RCV000684779 RCV001175479 RCV001310205 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
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
MLH1-related disorder

Criteria Provided
Conflicting Classifications

CA006877

rs_587782621

11 SubmittersRCV000132004 RCV000199682 RCV000483590 RCV000524250 RCV000662692 RCV003407556

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

Criteria Provided
Conflicting Classifications

CA012948

rs_587782625

9 SubmittersRCV000132010 RCV000234247 RCV000412120 RCV000484116 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
Lynch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA019428

rs_587782627

5 SubmittersRCV000132012 RCV000629677 RCV001030712 RCV003998127 RCV003129784

NM_000179.3(MSH6):c.727C>T (p.Arg243Cys)

SNV
Germline

Chr2:47798710

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA016337

rs_377216828

9 SubmittersRCV000132028 RCV000410426 RCV000464603 RCV000480539 RCV003462027 RCV003153428 RCV003998130

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
Mismatch repair cancer syndrome 4
Lynch syndrome
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA011680

rs_371673459

13 SubmittersRCV000132047 RCV000199501 RCV000479601 RCV000656953 RCV003483508 RCV003149910

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
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Condition: not provided
Carcinoma of colon
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA020066

rs_587782659

9 SubmittersRCV000132075 RCV000535324 RCV000503476 RCV000985801 RCV001353465 RCV003453090

NM_000251.2(MSH2):c.-76G>A

SNV
Germline

Chr2:47403116

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA022010

rs_34355730

3 SubmittersRCV000132097 RCV001139262 RCV004544302

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

4 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

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA017103

rs_63751604

7 SubmittersRCV000132158 RCV001249911 RCV001192615 RCV000225952 RCV003477557 RCV003453092

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

5 SubmittersRCV000132161 RCV000203804 RCV000480825 RCV003998134 RCV004567151

NM_000179.3(MSH6):c.3469G>T (p.Gly1157Cys)

SNV
Germline

Chr2:47804940

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA012982

rs_587779264

7 SubmittersRCV000132174 RCV000541079 RCV001267890 RCV001174713 RCV002514752 RCV003462035

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

Criteria Provided
Multiple Submitters
No Conflicts

CA010652

rs_587779333

8 SubmittersRCV000132181 RCV000218553 RCV000527509 RCV000500454 RCV003453093

NM_000251.3(MSH2):c.116G>C (p.Arg39Pro)

SNV
Germline

Chr2:47403307

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA017407

rs_587782759

7 SubmittersRCV000132280 RCV001753517 RCV000800194 RCV003998140 RCV003462042 RCV000780435

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_000535.7(PMS2):c.1211C>G (p.Pro404Arg)

SNV
Germline

Chr7:5987554

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA009336

rs_536111818

15 SubmittersRCV000132334 RCV000168006 RCV000479344 RCV000987836 RCV001193252 RCV003389704 RCV003998143

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
PMS2-related disorder
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA011663

rs_587782787

6 SubmittersRCV000132336 RCV000469886 RCV002279947 RCV003894999 RCV003477560

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

Criteria Provided
Conflicting Classifications

CA021484

rs_587782804

4 SubmittersRCV000132363 RCV000629706 RCV003998144

NM_000179.3(MSH6):c.2147C>T (p.Thr716Ile)

SNV
Germline

Chr2:47800130

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA009755

rs_587782805

7 SubmittersRCV000132365 RCV000212659 RCV000411918 RCV000468830 RCV003998145

NM_000249.4(MLH1):c.1489C>T (p.Arg497Trp)

SNV
Germline

Chr3:37028863

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
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 SubmittersRCV000132432 RCV000168002 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
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome
PMS2-related disorder

Criteria Provided
Conflicting Classifications

CA013317

rs_139194813

13 SubmittersRCV000132451 RCV000590247 RCV000662505 RCV001085599 RCV001260258 RCV001270440 RCV003415967

NM_000535.7(PMS2):c.983A>G (p.Asp328Gly)

SNV
Germline

Chr7:5991978

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA013395

rs_587782852

13 SubmittersRCV000132452 RCV000214828 RCV000226690 RCV000411483 RCV000656944 RCV000708988 RCV003390826

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

Criteria Provided
Conflicting Classifications

CA011273

rs_150478207

14 SubmittersRCV000132489 RCV000200318 RCV000662374 RCV000480315 RCV001804854 RCV003398776 RCV003998148

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
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA020519

rs_587782891

9 SubmittersRCV000132529 RCV000409026 RCV000540856 RCV001354926 RCV001650987 RCV001818334

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
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA009841

rs_587782900

5 SubmittersRCV000132542 RCV002228511 RCV003998152 RCV004567156

NC_012920.1(MT-ND1):m.3481G>A

SNV
Germline

ChrMT:3481

Pathogenic

Leigh syndrome
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke

Criteria Provided
Single Submitter

CA345910

rs_587776433

2 SubmittersRCV000143999 RCV000853660

NC_012920.1(MT-ND1):m.3890G>A

SNV
Germline

ChrMT:3890

Likely pathogenic

Leigh syndrome
not specified
Mitochondrial disease

Reviewed By Expert Panel

CA345911

rs_587776434

3 SubmittersRCV000144000 RCV002285011 RCV002260617

NC_012920.1(MT-ND5):m.13514A>G

SNV
Germline

ChrMT:13514

Likely pathogenic

Leigh syndrome
Mitochondrial disease
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke

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
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA214806

rs_587776498

7 SubmittersRCV000144497 RCV000167582 RCV000481050

NM_004958.4(MTOR):c.5930C>A (p.Thr1977Lys)

SNV
Germline

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

Reviewed By Expert Panel

CA248390

rs_587777893

3 SubmittersRCV000190280 RCV002272139 RCV001836736

NM_004958.4(MTOR):c.6644C>T (p.Ser2215Phe)

SNV
Germline/somatic

Chr1:11124516

Pathogenic

Condition: not provided
Neoplasm of the large intestine
Malignant neoplasm of body of uterus
Malignant melanoma of skin
Papillary renal cell carcinoma type 1
Glioblastoma
Neoplasm of uterine cervix
Papillary renal cell carcinoma, sporadic
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

5 SubmittersRCV000190281 RCV000430308 RCV000439373 RCV000422164 RCV000419624 RCV000436863 RCV000440054 RCV000429373 RCV000477713 RCV001836737

NM_002354.3(EPCAM):c.556-14A>G

SNV
Germline

Chr2:47378939

Pathogenic/Likely pathogenic

Congenital diarrhea 5 with tufting enteropathy
Congenital diarrhea 5 with tufting enteropathy
Lynch syndrome 8
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA171016

rs_376155665

10 SubmittersRCV000144936 RCV000763487 RCV003654209

NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter)

SNV
Germline

Chr19:38496466

Conflicting classifications of pathogenicity

Condition: not provided
Multi-minicore disease and atypical periodic paralysis
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
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1
Central core myopathy
Congenital myopathy with fiber type disproportion

Criteria Provided
Conflicting Classifications

CA024643

rs_200563280

23 SubmittersRCV000147436 RCV000148787 RCV000171129 RCV000178453 RCV000263175 RCV000525302 RCV001257398 RCV001530191 RCV002505131

NM_004168.4(SDHA):c.1753C>T (p.Arg585Trp)

SNV
Germline

Chr5:251427

Conflicting classifications of pathogenicity

Paragangliomas 5
Hereditary cancer-predisposing syndrome
Paragangliomas 5
Leigh syndrome
Mitochondrial complex II deficiency, nuclear type 1
Dilated cardiomyopathy 1GG
Paragangliomas 5
Mitochondrial complex II deficiency, nuclear type 1
Condition: not provided
Neurodegeneration with ataxia and late-onset optic atrophy
Dilated cardiomyopathy 1GG

Criteria Provided
Conflicting Classifications

CA188615

rs_200397144

12 SubmittersRCV000148027 RCV000163558 RCV000765834 RCV000464783 RCV000762143 RCV001824123 RCV003474794

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
not specified
Lynch syndrome
Mismatch repair cancer syndrome 2
Lynch syndrome
MSH2-related disorder
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA019583

rs_374840361

12 SubmittersRCV000148637 RCV000160596 RCV000204646 RCV000589876 RCV000765671 RCV002509245 RCV003483522 RCV003998170 RCV004532666 RCV004567167

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
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA020218

rs_2229061

11 SubmittersRCV000148638 RCV000471467 RCV000411526 RCV000588732 RCV000491584 RCV001175338 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
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1
Central core myopathy
Congenital myopathy with fiber type disproportion

Criteria Provided
Conflicting Classifications

CA024341

rs_147320363

17 SubmittersRCV000148816 RCV000153861 RCV000210004 RCV000533102 RCV000723802 RCV002514856 RCV002492546

NM_000540.3(RYR1):c.11763C>A (p.Tyr3921Ter)

SNV
Germline

Chr19:38543420

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA023934

rs_377178986

9 SubmittersRCV000148788 RCV000721251 RCV000704053 RCV000990206 RCV001266922 RCV001795258 RCV002478416

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
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA009232

rs_373885654

9 SubmittersRCV000149895 RCV000213090 RCV001044002 RCV002453477 RCV003453108

NM_001267550.2(TTN):c.97492+1G>C

SNV
Germline

Chr2:178542263

Pathogenic/Likely pathogenic

Primary dilated cardiomyopathy
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
SUDDEN INFANT DEATH SYNDROME
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA273675

rs_727505319

8 SubmittersRCV000156861 RCV000184284 RCV000462323 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
Breast neoplasm
Squamous cell carcinoma of the head and neck
Pancreatic adenocarcinoma
Neoplasm of the large intestine
Adenoid cystic carcinoma
Neoplasm of brain
Transitional cell carcinoma of the bladder
Glioblastoma
Thyroid tumor
Gastric adenocarcinoma
Malignant neoplasm of body of uterus
Cowden syndrome
Megalencephaly-capillary malformation-polymicrogyria syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA183868

rs_121913283

6 SubmittersRCV000155959 RCV000201237 RCV000420901 RCV000423694 RCV000426516 RCV000431600 RCV000438783 RCV000430907 RCV000442493 RCV000433967 RCV000441596 RCV000433300 RCV000420209 RCV000699681 RCV001526545 RCV002293423

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
WT1-related disorder

Criteria Provided
Conflicting Classifications

CA016452

rs_377573993

5 SubmittersRCV000157583 RCV000892804 RCV003162657 RCV002492615 RCV004551354

NM_000251.3(MSH2):c.-9G>C

SNV
Germline

Chr2:47403183

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA022727

rs_547444746

9 SubmittersRCV000160647 RCV000410517 RCV001850270 RCV000732070 RCV003584558 RCV003998488

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
Hereditary nonpolyposis colorectal neoplasms
not specified
Hereditary nonpolyposis colon cancer
MSH2-related disorder
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA021396

rs_141711342

15 SubmittersRCV000160635 RCV000409531 RCV000588459 RCV001084278 RCV001255213 RCV003323295 RCV004528902 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

Criteria Provided
Conflicting Classifications

CA021613

rs_730881760

4 SubmittersRCV000160594 RCV000539963 RCV001025106 RCV003998475

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
not specified
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA017708

rs_730881766

8 SubmittersRCV000160605 RCV000212577 RCV000559519 RCV001192614 RCV003998479 RCV004567210

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 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA021080

rs_730881767

6 SubmittersRCV000160606 RCV000212582 RCV000531566 RCV004567211 RCV003998480

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
Lynch syndrome 1
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
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
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA021106

rs_587779972

8 SubmittersRCV000492034 RCV000587688 RCV000629990 RCV000986650 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
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA021193

rs_149511545

10 SubmittersRCV000160612 RCV000212587 RCV000477198 RCV001002118 RCV003444208

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
not specified
Lynch syndrome
Mismatch repair cancer syndrome 2
Lynch syndrome
Lynch syndrome 1
Muir-Torré syndrome
Mismatch repair cancer syndrome 2

Criteria Provided
Conflicting Classifications

CA021433

rs_141021599

11 SubmittersRCV000233177 RCV000565216 RCV000590509 RCV000410808 RCV001251062 RCV003483528 RCV003998484 RCV002478486

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

Criteria Provided
Multiple Submitters
No Conflicts

CA021507

rs_587779166

4 SubmittersRCV000491751 RCV001212954 RCV003453269

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

Criteria Provided
Conflicting Classifications

CA022053

rs_730881773

8 SubmittersRCV000160625 RCV000473583 RCV000663301 RCV000562874

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

Criteria Provided
Conflicting Classifications

CA022091

rs_199676483

15 SubmittersRCV000160626 RCV000198252 RCV000411135 RCV000491808 RCV000656873 RCV000708828

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

Criteria Provided
Conflicting Classifications

CA022219

rs_377403073

10 SubmittersRCV000160627 RCV000196535 RCV000491536 RCV000662661 RCV002265637

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.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

Criteria Provided
Conflicting Classifications

CA017431

rs_63750611

8 SubmittersRCV000160634 RCV000233011 RCV000491315 RCV001257466 RCV001269197 RCV003998485

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

Criteria Provided
Conflicting Classifications

CA017737

rs_189015988

6 SubmittersRCV000160644 RCV000410246 RCV000580774 RCV002053928

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
Lynch syndrome
not specified

Criteria Provided
Conflicting Classifications

CA018117

rs_730881756

9 SubmittersRCV000160583 RCV000198641 RCV000492025 RCV000662679 RCV003998470 RCV002265636

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.1617T>A (p.Phe539Leu)

SNV
Germline

Chr2:47466764

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA018746

rs_730881759

6 SubmittersRCV000160593 RCV001067826 RCV000774571 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

Criteria Provided
Conflicting Classifications

CA019367

rs_730881777

6 SubmittersRCV000160636 RCV000212610 RCV000462601 RCV000986680

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.2043A>T (p.Gln681His)

SNV
Germline

Chr2:47476404

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA019887

rs_730881763

5 SubmittersRCV000160599 RCV000219973 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

Criteria Provided
Conflicting Classifications

CA020041

rs_730881764

7 SubmittersRCV000160601 RCV000590168 RCV000796598 RCV002247555 RCV003998477

NM_000251.3(MSH2):c.2120G>A (p.Cys707Tyr)

SNV
Germline

Chr2:47476481

Conflicting classifications of pathogenicity

Condition: not provided
Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
not specified
Malignant tumor of breast

Criteria Provided
Conflicting Classifications

CA020070

rs_373226409

13 SubmittersRCV000160602 RCV000410402 RCV000491763 RCV001085231 RCV000761096 RCV001193853 RCV001354130

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 nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA020406

rs_144412585

6 SubmittersRCV000160609 RCV000456427 RCV000218725 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

7 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
Condition: not provided
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA020697

rs_140754514

12 SubmittersRCV000160621 RCV000168241 RCV000235176 RCV000656883 RCV000663089

NM_000251.3(MSH2):c.2606C>A (p.Ala869Glu)

SNV
Germline

Chr2:47480843

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA020801

rs_730881772

12 SubmittersRCV000203841 RCV000565478 RCV000708846 RCV000759828 RCV001193897 RCV001354344 RCV003467250

NM_000179.3(MSH6):c.97C>T (p.Arg33Cys)

SNV
Germline

Chr2:47783330

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA016738

rs_730881811

5 SubmittersRCV000160708 RCV000490935 RCV001043688 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 nonpolyposis colorectal neoplasms
not specified
Lynch syndrome 5
Hereditary breast ovarian cancer syndrome
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA015802

rs_730881813

11 SubmittersRCV000160711 RCV000217717 RCV000456306 RCV000781604 RCV000986705 RCV001030488 RCV003467255 RCV003998510

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 cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Lynch syndrome
Endometrial carcinoma
not specified

Criteria Provided
Conflicting Classifications

CA016346

rs_370157832

9 SubmittersRCV000160655 RCV000459365 RCV000568587 RCV001030489 RCV001270441 RCV003462092 RCV003230421

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
Mismatch repair cancer syndrome 3
Lynch syndrome 5
MSH6-related disorder
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA016522

rs_374486449

13 SubmittersRCV000160656 RCV000196039 RCV000235181 RCV000411901 RCV000781597 RCV002484996 RCV004535042 RCV003462093 RCV003998490

NM_000179.3(MSH6):c.1050C>T (p.Ala350=)

SNV
Germline

Chr2:47799033

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome 5
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Malignant tumor of breast
Breast and/or ovarian cancer
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA007877

rs_730881802

18 SubmittersRCV000160690 RCV000212643 RCV000409759 RCV000586411 RCV001080910 RCV001356437 RCV003149978 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
not specified
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer

Criteria Provided
Conflicting Classifications

CA007915

rs_730881787

11 SubmittersRCV000160662 RCV000656893 RCV000780471 RCV000986713 RCV001082336 RCV003323296

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

Criteria Provided
Conflicting Classifications

CA007928

rs_730881788

12 SubmittersRCV000160663 RCV000198861 RCV000212644 RCV000662570 RCV001798553 RCV002271427 RCV003998491

NM_000179.3(MSH6):c.1190A>G (p.Tyr397Cys)

SNV
Germline

Chr2:47799173

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA008291

rs_63750065

16 SubmittersRCV000160665 RCV000206352 RCV000662428 RCV000708864 RCV000656894 RCV000565934 RCV001030492 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

6 SubmittersRCV000160666 RCV000195871 RCV000563544 RCV000780479 RCV003998492

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

Criteria Provided
Conflicting Classifications

CA009015

rs_730881791

8 SubmittersRCV000160668 RCV000560061 RCV000571101 RCV000708869 RCV000767214

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

Criteria Provided
Multiple Submitters
No Conflicts

CA009231

rs_730881816

10 SubmittersRCV000160715 RCV000409404 RCV000491316 RCV000627696 RCV000231648

NM_000179.3(MSH6):c.1822A>G (p.Ile608Val)

SNV
Germline

Chr2:47799805

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA009270

rs_201613780

9 SubmittersRCV000196510 RCV000491442 RCV000589796 RCV000757926 RCV002271428

NM_000179.3(MSH6):c.1844G>C (p.Cys615Ser)

SNV
Germline

Chr2:47799827

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA009314

rs_730881793

15 SubmittersRCV000160673 RCV000212653 RCV000410091 RCV000304378 RCV000524120 RCV001193697 RCV001798554

NM_000179.3(MSH6):c.1974G>A (p.Val658=)

SNV
Germline

Chr2:47799957

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA009504

rs_372916347

8 SubmittersRCV000160674 RCV000212655 RCV001083661 RCV002271429 RCV003998494

NM_000179.3(MSH6):c.1999G>C (p.Asp667His)

SNV
Germline

Chr2:47799982

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA009534

rs_151086192

7 SubmittersRCV000160675 RCV000214441 RCV000233389 RCV000662835 RCV003998495

NM_000179.3(MSH6):c.2249C>A (p.Thr750Lys)

SNV
Germline

Chr2:47800232

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA009894

rs_730881817

8 SubmittersRCV000205769 RCV000491170 RCV000663327 RCV000587383 RCV004567220

NM_000179.3(MSH6):c.2260A>C (p.Thr754Pro)

SNV
Germline

Chr2:47800243

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA009921

rs_545057945

5 SubmittersRCV000160679 RCV000821022 RCV000772630 RCV003998496

NM_000179.3(MSH6):c.2417C>G (p.Ser806Cys)

SNV
Germline

Chr2:47800400

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA010210

rs_372990379

11 SubmittersRCV000160717 RCV000409643 RCV000570608 RCV000629702 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
Lynch syndrome 5
not specified
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA010696

rs_730881798

11 SubmittersRCV000160683 RCV000205971 RCV000759138 RCV001142302 RCV000781587 RCV003462094 RCV003998497

NM_000179.3(MSH6):c.2940A>G (p.Glu980=)

SNV
Germline

Chr2:47800923

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA011134

rs_730881818

12 SubmittersRCV000160724 RCV000491957 RCV000679230 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
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA011493

rs_372705506

8 SubmittersRCV000160686 RCV000212674 RCV000411475 RCV000475900 RCV000766283 RCV003998499

NM_000179.3(MSH6):c.3220A>G (p.Met1074Val)

SNV
Germline

Chr2:47803467

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA012035

rs_730881804

8 SubmittersRCV000232219 RCV000562784 RCV000587626 RCV003998502 RCV003488409 RCV004567218

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
Hereditary cancer-predisposing syndrome
Condition: not provided
MSH6-related disorder
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA012890

rs_730881819

12 SubmittersRCV000160728 RCV000227561 RCV000410182 RCV000580444 RCV003477576 RCV004535044 RCV003998515

NM_000179.3(MSH6):c.3675G>A (p.Thr1225=)

SNV
Germline

Chr2:47806232

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA013776

rs_730881820

7 SubmittersRCV000160730 RCV000492002 RCV000548816 RCV003149979 RCV003998516

NM_000179.3(MSH6):c.3686A>G (p.Asn1229Ser)

SNV
Germline

Chr2:47806243

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA013811

rs_730881807

8 SubmittersRCV000160697 RCV000226708 RCV000564770 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
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Condition: not provided
Breast and/or ovarian cancer
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA015325

rs_730881809

11 SubmittersRCV000160703 RCV000229406 RCV000576090 RCV000663168 RCV000766290 RCV001798555 RCV003462097 RCV003998506

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

8 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
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA005596

rs_730881744

4 SubmittersRCV000160546 RCV000776169 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
not specified
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Breast and/or ovarian cancer
MLH1-related disorder
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA012580

rs_146796765

15 SubmittersRCV000160556 RCV000212527 RCV000586205 RCV001079243 RCV001145068 RCV001798552 RCV003952800 RCV003998468

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

Criteria Provided
Conflicting Classifications

CA006185

rs_730881742

9 SubmittersRCV000160537 RCV000206589 RCV000212541 RCV000409504 RCV001354460 RCV003998466

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
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 4
PMS2-related disorder
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA012744

rs_142434011

11 SubmittersRCV000160885 RCV000206870 RCV000567432 RCV000587187 RCV003462102 RCV003927529 RCV003998523

NM_000535.7(PMS2):c.706-13T>C

SNV
Germline

Chr7:5997436

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA012608

rs_730881918

5 SubmittersRCV000160899 RCV001187146 RCV001354065 RCV003998527

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
Lynch syndrome
Lynch syndrome 4
Mismatch repair cancer syndrome 1
PMS2-related disorder
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA012229

rs_730881917

10 SubmittersRCV000160898 RCV000215633 RCV000465290 RCV000758687 RCV000765966 RCV003416029 RCV003454388

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

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 4
Lynch syndrome 4
Mismatch repair cancer syndrome 1
Hereditary nonpolyposis colon cancer
PMS2-related disorder
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA011803

rs_587780059

15 SubmittersRCV000160895 RCV000212834 RCV000500749 RCV000763593 RCV000781734 RCV003407599 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

9 SubmittersRCV000161937 RCV000164263 RCV000426588 RCV000627737 RCV001697086 RCV003998535 RCV004544474

NM_000251.3(MSH2):c.51C>A (p.Val17=)

SNV
Germline

Chr2:47403242

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA021282

rs_397515879

7 SubmittersRCV000165795 RCV000613219 RCV000920244 RCV003995455 RCV003477619

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

Criteria Provided
Conflicting Classifications

CA022180

rs_767747378

8 SubmittersRCV000164134 RCV000525136 RCV001193893 RCV001762365 RCV003462126 RCV003995317

NM_000251.3(MSH2):c.80C>T (p.Pro27Leu)

SNV
Germline

Chr2:47403271

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA022338

rs_750746034

13 SubmittersRCV000164692 RCV000235224 RCV000228123 RCV000412025 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

Criteria Provided
Conflicting Classifications

CA022507

rs_757892928

8 SubmittersRCV000164508 RCV000233615 RCV000411131 RCV001762369 RCV003114313

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
Malignant tumor of breast
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA017623

rs_761960690

11 SubmittersRCV000166062 RCV000228645 RCV000589227 RCV000662660 RCV001357474 RCV003995476

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

10 SubmittersRCV000164978 RCV000200570 RCV000663139 RCV000781570 RCV001589031 RCV003995379

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
Lynch syndrome
Mismatch repair cancer syndrome 1
Lynch syndrome 1
Muir-Torré syndrome
not specified
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA021133

rs_193096019

12 SubmittersRCV000166792 RCV000546078 RCV000997136 RCV001357296 RCV002053989 RCV002267920 RCV002291583

NM_000251.3(MSH2):c.437G>T (p.Gly146Val)

SNV
Germline

Chr2:47410164

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA021161

rs_772052262

7 SubmittersRCV000166585 RCV000205937 RCV000662555 RCV003995514

NM_000251.3(MSH2):c.606C>G (p.Pro202=)

SNV
Germline

Chr2:47410333

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome 1
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA021556

rs_63750600

10 SubmittersRCV000162431 RCV000423282 RCV000281902 RCV000524416 RCV001079211 RCV003995195 RCV004535052

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
MSH2-related disorder
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA022377

rs_371944271

13 SubmittersRCV000167160 RCV000198455 RCV000587804 RCV000663108 RCV001248898 RCV004535135 RCV003995565

NM_000251.3(MSH2):c.830T>G (p.Leu277Ter)

SNV
Germline

Chr2:47414306

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA022392

rs_786203424

4 SubmittersRCV000166723 RCV003454416 RCV001205245

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

9 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
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1
MSH2-related disorder
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA022667

rs_63750732

11 SubmittersRCV000166896 RCV000472836 RCV000590192 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 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA016922

rs_375799148

5 SubmittersRCV000163983 RCV000473165 RCV003462124 RCV003995306

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
Lynch syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA017397

rs_757276241

6 SubmittersRCV000167351 RCV000629828 RCV003444210 RCV003329248

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.1413A>C (p.Lys471Asn)

SNV
Germline

Chr2:47463057

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA018242

rs_745874745

7 SubmittersRCV000166506 RCV000629905 RCV001355772 RCV003477630 RCV003995508

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.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

Criteria Provided
Conflicting Classifications

CA019085

rs_786201077

8 SubmittersRCV000162561 RCV000168102 RCV000585899 RCV000663034 RCV000761166

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

Criteria Provided
Conflicting Classifications

CA019215

rs_786202843

6 SubmittersRCV000165870 RCV000204380 RCV000759825 RCV003995461

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

3 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
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA019408

rs_267607980

7 SubmittersRCV000163537 RCV000657098 RCV000794229 RCV000484226 RCV003467279 RCV003995260

NM_000251.3(MSH2):c.1863A>T (p.Arg621=)

SNV
Germline

Chr2:47475128

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA019465

rs_786203119

7 SubmittersRCV000166283 RCV000679298 RCV001083110 RCV003995496

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
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA019600

rs_786201822

5 SubmittersRCV000164307 RCV001762366 RCV001059239 RCV003467289

NM_000251.3(MSH2):c.2006-4G>A

SNV
Germline

Chr2:47476363

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA019756

rs_369853630

13 SubmittersRCV000162418 RCV000202240 RCV000409960 RCV000679300 RCV001198846 RCV001083364

NM_000251.3(MSH2):c.2038C>G (p.Arg680Gly)

SNV
Germline

Chr2:47476399

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA019866

rs_63749932

8 SubmittersRCV000165747 RCV000589676 RCV000693732 RCV003995449 RCV004567284

NM_000251.3(MSH2):c.2090G>A (p.Cys697Tyr)

SNV
Germline

Chr2:47476451

Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Breast and/or ovarian cancer
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA019995

rs_63750398

5 SubmittersRCV000167253 RCV000490613 RCV001270946 RCV000817438

NM_000251.3(MSH2):c.2106G>A (p.Val702=)

SNV
Germline

Chr2:47476467

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA020029

rs_786201108

6 SubmittersRCV000162679 RCV001078875 RCV000831558 RCV001140257 RCV003995211

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
not specified
Breast and/or ovarian cancer
Malignant tumor of breast
MSH2-related disorder
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA020386

rs_56076152

13 SubmittersRCV000163040 RCV000759113 RCV001080852 RCV001140259 RCV001358733 RCV001798566 RCV001357863 RCV004535062 RCV003995227

NM_000251.3(MSH2):c.2296A>G (p.Ile766Val)

SNV
Germline

Chr2:47478357

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA020456

rs_374399939

6 SubmittersRCV000165690 RCV000202197 RCV000798203 RCV000766654 RCV003462184

NM_000251.3(MSH2):c.2354A>C (p.His785Pro)

SNV
Germline

Chr2:47478415

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

CA020494

rs_200252727

9 SubmittersRCV000165012 RCV000196615 RCV000522265 RCV000587565 RCV003462160 RCV003995381

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
not specified
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA020680

rs_747700106

7 SubmittersRCV000166329 RCV000232782 RCV001194027 RCV001594863 RCV003995501

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
Lynch syndrome
Condition: not provided
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
Mismatch repair cancer syndrome 1
Carcinoma of colon
Breast and/or ovarian cancer
Endometrial carcinoma
Mismatch repair cancer syndrome 3
Lynch syndrome 5
Endometrial carcinoma
MSH6-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA008028

rs_786201042

21 SubmittersRCV000162425 RCV000199142 RCV000202232 RCV000202528 RCV000524100 RCV001254934 RCV001353573 RCV001798562 RCV002478495 RCV003462113 RCV004528905

NM_000179.3(MSH6):c.33C>G (p.Phe11Leu)

SNV
Germline

Chr2:47783266

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA012766

rs_747802641

8 SubmittersRCV000166008 RCV000679237 RCV001085290 RCV001264551 RCV003995471

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
Lynch syndrome 5
not specified
Carcinoma of colon
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA008685

rs_768803986

14 SubmittersRCV000163365 RCV000679215 RCV001087499 RCV001139579 RCV001192486 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

Criteria Provided
Conflicting Classifications

CA008708

rs_374597395

7 SubmittersRCV000166759 RCV000203855 RCV001358151 RCV001548024 RCV002281987

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

Criteria Provided
Conflicting Classifications

CA010396

rs_587779242

7 SubmittersRCV000163956 RCV000421645 RCV000544230 RCV003235081 RCV003995299

NM_000179.3(MSH6):c.333C>T (p.Tyr111=)

SNV
Germline

Chr2:47790999

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA012642

rs_786202772

11 SubmittersRCV000165755 RCV000226058 RCV000410069 RCV000524171 RCV000609107 RCV001706084

NM_000179.3(MSH6):c.423C>G (p.Gly141=)

SNV
Germline

Chr2:47791089

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA015480

rs_777587467

3 SubmittersRCV000163223 RCV000986703 RCV001850288

NM_000179.3(MSH6):c.503C>G (p.Ala168Gly)

SNV
Germline

Chr2:47795939

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA015744

rs_774162322

10 SubmittersRCV000164360 RCV000230583 RCV000485808 RCV000657018 RCV000662903 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

Criteria Provided
Conflicting Classifications

CA015793

rs_750327994

4 SubmittersRCV000167309 RCV000535861 RCV003995581

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
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA016402

rs_764870249

7 SubmittersRCV000164341 RCV000469980 RCV001775642 RCV002228583 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
Lynch syndrome
not specified
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA016611

rs_765237563

12 SubmittersRCV000165781 RCV000168235 RCV000588989 RCV000758602 RCV003320582 RCV003468757

NM_000179.3(MSH6):c.980C>G (p.Thr327Ser)

SNV
Germline

Chr2:47798963

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA016745

rs_369568820

10 SubmittersRCV000164123 RCV000204780 RCV000479969 RCV003137692 RCV004528909 RCV003150013 RCV003995316

NM_000179.3(MSH6):c.989C>A (p.Ser330Ter)

SNV
Germline

Chr2:47798972

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA016771

rs_786202848

4 SubmittersRCV000165878 RCV001382641 RCV003454409 RCV003468759

NM_000179.3(MSH6):c.1037C>T (p.Ser346Phe)

SNV
Germline

Chr2:47799020

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA007847

rs_567785169

10 SubmittersRCV000167468 RCV000229553 RCV000454816 RCV000524097 RCV000657019 RCV000662908

NM_000179.3(MSH6):c.1170T>C (p.Asp390=)

SNV
Germline

Chr2:47799153

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA008223

rs_55882234

10 SubmittersRCV000165797 RCV000228538 RCV000602595 RCV000662624 RCV001311927 RCV004535119

NM_000179.3(MSH6):c.1238G>A (p.Trp413Ter)

SNV
Germline

Chr2:47799221

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA008349

rs_786201049

5 SubmittersRCV000162446 RCV001044962 RCV001357169 RCV003233476 RCV003454390

NM_000179.3(MSH6):c.1295T>C (p.Phe432Ser)

SNV
Germline

Chr2:47799278

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA008453

rs_750528093

11 SubmittersRCV000162486 RCV000479506 RCV000500646 RCV000553513 RCV000582500 RCV003454393 RCV003995199 RCV004525833

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
Condition: not provided
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA008825

rs_786201964

7 SubmittersRCV000164520 RCV000204361 RCV003235082 RCV003462137 RCV003995346

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
not specified
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA009101

rs_768854566

9 SubmittersRCV000164895 RCV000663227 RCV001037948 RCV002255308 RCV002281982 RCV003995375 RCV004567256

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
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA009321

rs_730881793

10 SubmittersRCV000165560 RCV000168072 RCV000479956 RCV002469035 RCV003462180 RCV003995427

NM_000179.3(MSH6):c.1915G>A (p.Glu639Lys)

SNV
Germline

Chr2:47799898

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA009445

rs_143517321

12 SubmittersRCV000164891 RCV000200231 RCV000480270 RCV000524126 RCV000781602 RCV001094683 RCV003462152 RCV004528912

NM_000179.3(MSH6):c.2168G>C (p.Gly723Ala)

SNV
Germline

Chr2:47800151

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

CA009788

rs_759403696

6 SubmittersRCV000166842 RCV001041140 RCV001552358 RCV001797654 RCV003995537 RCV004567315

NM_000179.3(MSH6):c.2291C>A (p.Thr764Asn)

SNV
Germline

Chr2:47800274

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA009966

rs_561198849

11 SubmittersRCV000163700 RCV000480884 RCV000630065 RCV000662379 RCV002307420 RCV003462122 RCV003995273

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

Criteria Provided
Conflicting Classifications

CA010219

rs_770992427

9 SubmittersRCV000162791 RCV000178055 RCV000590110 RCV001082493 RCV003995219

NM_000179.3(MSH6):c.2550C>A (p.Tyr850Ter)

SNV
Germline

Chr2:47800533

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA010381

rs_374230313

2 SubmittersRCV000166285 RCV003454413

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
Endometrial carcinoma
not specified

Criteria Provided
Conflicting Classifications

CA010617

rs_774774596

8 SubmittersRCV000164528 RCV000205577 RCV000662485 RCV001580460 RCV003462138 RCV002271437

NM_000179.3(MSH6):c.2701C>T (p.Arg901Cys)

SNV
Germline

Chr2:47800684

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA010754

rs_772514245

6 SubmittersRCV000166149 RCV000456613 RCV001775649 RCV003462201 RCV003995483

NM_000179.3(MSH6):c.2875C>T (p.Arg959Cys)

SNV
Germline

Chr2:47800858

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

CA011024

rs_751973865

7 SubmittersRCV000165958 RCV000214010 RCV000473325 RCV001526922 RCV003468765 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
Lynch syndrome 5
Condition: not provided
not specified
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA011176

rs_146359682

13 SubmittersRCV000166094 RCV000206584 RCV000524150 RCV000662779 RCV000759855 RCV001375566 RCV003462200

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
Lynch syndrome 5
Endometrial carcinoma
Lynch syndrome 5
Mismatch repair cancer syndrome 1
Condition: not provided
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA011202

rs_746631156

12 SubmittersRCV000166654 RCV000198691 RCV000214752 RCV000662610 RCV000764425 RCV000767216 RCV004567308

NM_000179.3(MSH6):c.3113A>G (p.Tyr1038Cys)

SNV
Germline

Chr2:47801096

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA011594

rs_773357672

7 SubmittersRCV000165541 RCV000410356 RCV000483409 RCV000685194 RCV002267913

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

Criteria Provided
Conflicting Classifications

CA012072

rs_779617676

9 SubmittersRCV000165943 RCV000198283 RCV000202247 RCV000588416 RCV000758680 RCV003462194

NM_000179.3(MSH6):c.3246G>A (p.Pro1082=)

SNV
Germline

Chr2:47803493

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA012143

rs_3136351

17 SubmittersRCV000163801 RCV000202109 RCV000410558 RCV000724321 RCV001085889 RCV001798576 RCV003995283 RCV004535083

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

Criteria Provided
Conflicting Classifications

CA012609

rs_374070511

4 SubmittersRCV000166804 RCV000701255 RCV003995533

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
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer

Criteria Provided
Conflicting Classifications

CA013029

rs_376799914

15 SubmittersRCV000165060 RCV000201982 RCV000410385 RCV000656900 RCV001082754 RCV003323297

NM_000179.3(MSH6):c.3478G>T (p.Val1160Phe)

SNV
Germline

Chr2:47804949

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA013053

rs_376799914

9 SubmittersRCV000164110 RCV000506000 RCV000466573 RCV000589252 RCV000663282

NM_000179.3(MSH6):c.3537C>G (p.Ala1179=)

SNV
Germline

Chr2:47805008

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA013308

rs_200120044

4 SubmittersRCV000165194 RCV000629711 RCV003995401

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

Criteria Provided
Conflicting Classifications

CA014374

rs_201080919

12 SubmittersRCV000166530 RCV000203730 RCV000411771 RCV000524188 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
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Condition: not provided
not specified
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA015093

rs_773763465

10 SubmittersRCV000163638 RCV000198598 RCV000409323 RCV000657088 RCV001706075 RCV003462121 RCV003995266

NM_000179.3(MSH6):c.4002-4T>C

SNV
Germline

Chr2:47806775

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA015278

rs_370428032

10 SubmittersRCV000164128 RCV000458512 RCV000412285 RCV000859424 RCV001721060 RCV004535094

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
Condition: not provided
not specified
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA013506

rs_779759678

9 SubmittersRCV000165278 RCV000459216 RCV000483373 RCV001193240 RCV002291579 RCV003995409

NM_000249.4(MLH1):c.452C>T (p.Thr151Met)

SNV
Germline

Chr3:37007062

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA010475

rs_776969475

10 SubmittersRCV000165547 RCV000473875 RCV001569830 RCV003153446 RCV003462179 RCV003995426 RCV003398846

NM_000249.4(MLH1):c.678A>T (p.Arg226=)

SNV
Germline

Chr3:37014432

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA011645

rs_786203360

4 SubmittersRCV000166637 RCV000831367 RCV003758708 RCV003995520

NM_000249.4(MLH1):c.682C>A (p.Leu228Met)

SNV
Germline

Chr3:37014436

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA011677

rs_751628735

12 SubmittersRCV000163166 RCV000202192 RCV000409697 RCV000558825 RCV000587335 RCV003995237

NM_000249.4(MLH1):c.1103C>T (p.Ser368Leu)

SNV
Germline/somatic

Chr3:37025701

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

CA004353

rs_201673334

10 SubmittersRCV000162449 RCV000483837 RCV000476166 RCV000758575 RCV003462116

NM_000249.4(MLH1):c.1104G>A (p.Ser368=)

SNV
Germline

Chr3:37025702

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA004360

rs_769364808

13 SubmittersRCV000163950 RCV000200033 RCV000411033 RCV000524222 RCV000432066 RCV001284000

NM_000249.4(MLH1):c.1117G>A (p.Gly373Arg)

SNV
Germline

Chr3:37025715

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA004380

rs_766904735

12 SubmittersRCV000226857 RCV000166495 RCV000662540 RCV000764487 RCV000708919 RCV000484742 RCV001800500

NM_000249.4(MLH1):c.1236C>T (p.Val412=)

SNV
Germline

Chr3:37025834

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA004803

rs_369576099

6 SubmittersRCV000163670 RCV000943642 RCV001147917 RCV001704174 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
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA005379

rs_63750498

7 SubmittersRCV000162406 RCV000541695 RCV000588918 RCV003467275 RCV003998540

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
Colorectal cancer, hereditary nonpolyposis, type 2
not specified

Criteria Provided
Conflicting Classifications

CA005635

rs_771044689

13 SubmittersRCV000164523 RCV000205482 RCV000481882 RCV000708926 RCV000663072 RCV001526980

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

Criteria Provided
Conflicting Classifications

CA005977

rs_587779953

9 SubmittersRCV000167029 RCV000521886 RCV000663082 RCV000459950 RCV000764494 RCV003995549 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

Criteria Provided
Conflicting Classifications

CA006151

rs_786202409

5 SubmittersRCV000165205 RCV000547299 RCV001149458 RCV003995403

NM_000249.4(MLH1):c.1743G>A (p.Pro581=)

SNV
Germline

Chr3:37047530

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA006676

rs_567838745

12 SubmittersRCV000165449 RCV000420605 RCV001084862 RCV000662457 RCV000759810 RCV003975235 RCV003995418

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
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA006853

rs_769239969

5 SubmittersRCV000164192 RCV000685901 RCV003441761 RCV003995322

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
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA008580

rs_786202433

7 SubmittersRCV000165242 RCV000226776 RCV000420728 RCV003995408

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 colon cancer
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA011600

rs_786201039

6 SubmittersRCV000162416 RCV000657711 RCV003317111 RCV001066692 RCV003454389

NM_000535.7(PMS2):c.2445G>A (p.Ser815=)

SNV
Germline

Chr7:5977588

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA011510

rs_753199796

11 SubmittersRCV000163748 RCV000859086 RCV001084869 RCV000987819 RCV001420820 RCV003492679

NM_000535.7(PMS2):c.2347G>A (p.Val783Ile)

SNV
Germline

Chr7:5977686

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA011316

rs_553286217

12 SubmittersRCV000165312 RCV000230774 RCV000222502 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.1981G>T (p.Glu661Ter)

SNV
Germline

Chr7:5986784

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA010597

rs_778531080

4 SubmittersRCV000165222 RCV001201579 RCV003454403

NM_000535.7(PMS2):c.1980C>T (p.Ala660=)

SNV
Germline

Chr7:5986785

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA010587

rs_368928783

9 SubmittersRCV000163931 RCV000196833 RCV000436373 RCV000587189 RCV001084012 RCV003995296

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
Condition: not provided
not specified
Breast and/or ovarian cancer
PMS2-related disorder
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA010161

rs_63751211

13 SubmittersRCV000163099 RCV000199342 RCV000410142 RCV000512920 RCV000781750 RCV003149997 RCV003407602 RCV003995234

NM_000535.7(PMS2):c.1714G>A (p.Ala572Thr)

SNV
Germline

Chr7:5987051

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA010143

rs_63751023

10 SubmittersRCV000165566 RCV000513405 RCV000662642 RCV001193214 RCV003150024 RCV003483538 RCV003995430

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
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA009897

rs_143235330

8 SubmittersRCV000166743 RCV000462922 RCV000483914 RCV000780624 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
Lynch syndrome 4
Condition: not provided
Lynch syndrome 4
Mismatch repair cancer syndrome 1
not specified
Lynch syndrome 5
Breast and/or ovarian cancer
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA009861

rs_63751300

16 SubmittersRCV000164554 RCV000200307 RCV000411039 RCV000486349 RCV000515358 RCV000781744 RCV003338434 RCV001798585 RCV003995349

NM_000535.7(PMS2):c.1444A>G (p.Ser482Gly)

SNV
Germline

Chr7:5987321

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA009691

rs_786203510

6 SubmittersRCV000166845 RCV000474121 RCV000522983 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
Lynch syndrome 4
Malignant tumor of breast
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA009665

rs_144389038

9 SubmittersRCV000166020 RCV000200794 RCV000423126 RCV000987830 RCV001354397 RCV001721076 RCV003995472

NM_000535.7(PMS2):c.1394A>G (p.Lys465Arg)

SNV
Germline

Chr7:5987371

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA009618

rs_141084758

7 SubmittersRCV000165567 RCV000546976 RCV000662635 RCV003995431

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

8 SubmittersRCV000167069 RCV000226423 RCV000454673 RCV001753568 RCV003995554

NM_000535.7(PMS2):c.1344A>T (p.Gly448=)

SNV
Germline

Chr7:5987421

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA009531

rs_759192470

9 SubmittersRCV000164596 RCV000229726 RCV000442013 RCV000998766 RCV003995352

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
Mismatch repair cancer syndrome 4
Lynch syndrome 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA009478

rs_112902065

8 SubmittersRCV000164844 RCV000206128 RCV000433523 RCV000987833 RCV002485018 RCV001358227

NM_000535.7(PMS2):c.1268C>G (p.Ala423Gly)

SNV
Germline

Chr7:5987497

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA009455

rs_756883400

12 SubmittersRCV000164345 RCV000234512 RCV000524430 RCV000486789 RCV000657013

NM_000535.7(PMS2):c.1170G>A (p.Ala390=)

SNV
Germline

Chr7:5987595

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA009278

rs_755578413

12 SubmittersRCV000164461 RCV000232574 RCV000781743 RCV001080100 RCV001162266 RCV003150016

NM_000535.7(PMS2):c.1080A>G (p.Ile360Met)

SNV
Germline

Chr7:5989864

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA009178

rs_567102013

12 SubmittersRCV000165734 RCV000217127 RCV000656945 RCV000411319 RCV001083209 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
Condition: not provided
not specified
Mismatch repair cancer syndrome 4
Lynch syndrome 4
Breast and/or ovarian cancer
PMS2-related disorder

Criteria Provided
Conflicting Classifications

CA013345

rs_116314131

18 SubmittersRCV000163216 RCV000197131 RCV000412322 RCV000524485 RCV000679365 RCV000780629 RCV002492646 RCV003492673 RCV003389705

NM_000535.7(PMS2):c.924G>C (p.Glu308Asp)

SNV
Germline

Chr7:5992037

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA013290

rs_114185660

13 SubmittersRCV000165430 RCV000481332 RCV000471981 RCV001193854 RCV001356004 RCV001798589 RCV003462172 RCV003995415

NM_000535.7(PMS2):c.809C>G (p.Ser270Ter)

SNV
Germline

Chr7:5995628

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA012910

rs_786201047

10 SubmittersRCV000162437 RCV000657645 RCV000629674 RCV001192582 RCV001262168

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
PMS2-related disorder
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA012753

rs_573125799

15 SubmittersRCV000162412 RCV000168447 RCV000413496 RCV000627717 RCV003407601 RCV003147375

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

Criteria Provided
Conflicting Classifications

CA012689

rs_373366661

7 SubmittersRCV000166111 RCV000828397 RCV001087207 RCV003235086 RCV003995480

NM_000535.7(PMS2):c.687T>C (p.Ser229=)

SNV
Germline

Chr7:5999126

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA012533

rs_786201508

6 SubmittersRCV000163775 RCV000659069 RCV001084511 RCV003995281

NM_000535.7(PMS2):c.595C>T (p.Arg199Cys)

SNV
Germline/somatic

Chr7:5999218

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

CA012356

rs_372297364

15 SubmittersRCV000167249 RCV000233931 RCV000410857 RCV000512735 RCV000722125 RCV000758686 RCV003927555

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
Breast and/or ovarian cancer
Lynch syndrome
not specified

Criteria Provided
Conflicting Classifications

CA011977

rs_760615315

9 SubmittersRCV000165593 RCV000587468 RCV000630377 RCV003150025 RCV003995437 RCV003479038

NM_000535.7(PMS2):c.354-1G>A

SNV
Germline

Chr7:6002637

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA011931

rs_786203954

6 SubmittersRCV000167479 RCV003328562 RCV003333740 RCV001850369

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

9 SubmittersRCV000164744 RCV000552914 RCV000759205 RCV003454400 RCV003995362

NM_000535.7(PMS2):c.251-2A>T

SNV
Germline

Chr7:6003794

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA011631

rs_587779340

17 SubmittersRCV000205731 RCV000162757 RCV000216802 RCV000524468 RCV000515494 RCV000763591 RCV001255210 RCV003149993

NM_000535.7(PMS2):c.164-1G>C

SNV
Germline

Chr7:6004059

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA009964

rs_763308607

9 SubmittersRCV000165585 RCV000484767 RCV000576564 RCV000792721 RCV003995434

NM_000535.7(PMS2):c.89A>G (p.Gln30Arg)

SNV
Germline

Chr7:6005966

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA013191

rs_56203955

10 SubmittersRCV000164904 RCV000198290 RCV000410641 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

5 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

13 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
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA019166

rs_372189599

7 SubmittersRCV000168388 RCV000568410 RCV000508172 RCV003995625 RCV003468832

NM_000251.3(MSH2):c.491G>A (p.Gly164Glu)

SNV
Germline

Chr2:47410218

Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Reviewed By Expert Panel

CA021218

rs_786204082

4 SubmittersRCV000167977 RCV000240465 RCV000223301 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
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA017027

rs_150503781

10 SubmittersRCV000168008 RCV000236761 RCV000568153 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

Criteria Provided
Conflicting Classifications

CA018965

rs_139920308

3 SubmittersRCV000168437 RCV001012659 RCV001034658

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

Criteria Provided
Conflicting Classifications

CA020496

rs_200252727

9 SubmittersRCV000168313 RCV000213407 RCV000589584 RCV000735967 RCV001580463 RCV003462262 RCV003995623

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

Criteria Provided
Conflicting Classifications

CA020537

rs_786204073

5 SubmittersRCV000167962 RCV000773069 RCV000986688 RCV001762391

NM_000179.3(MSH6):c.533G>A (p.Arg178His)

SNV
Germline

Chr2:47795969

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA015812

rs_786204186

12 SubmittersRCV000168249 RCV000220140 RCV000411795 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

8 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
Lynch syndrome 5
Hereditary cancer-predisposing syndrome
Condition: not provided
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA009870

rs_786204071

8 SubmittersRCV000167959 RCV000409734 RCV000491880 RCV000759851 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
Condition: not provided
Endometrial carcinoma
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA015307

rs_786204130

11 SubmittersRCV000168100 RCV000213342 RCV000663216 RCV001800508 RCV003462256 RCV003987391 RCV003995607

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
Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Conflicting Classifications

CA005076

rs_756099600

8 SubmittersRCV000167968 RCV000214998 RCV000590046 RCV003995601 RCV004567360

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

6 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

Criteria Provided
Conflicting Classifications

CA010309

rs_199700509

8 SubmittersRCV000168273 RCV000486825 RCV000574365 RCV003468829 RCV003995619

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

Criteria Provided
Conflicting Classifications

CA010297

rs_786204109

5 SubmittersRCV000168042 RCV000482215 RCV000562276 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

Familial aplasia of the vermis
Familial aplasia of the vermis
Meckel-Gruber 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 colon cancer
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA019647

rs_786204321

6 SubmittersRCV000168729 RCV000480108 RCV001192611 RCV001239760 RCV003454427 RCV002415717

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

4 SubmittersRCV000168716 RCV000692531 RCV003454426 RCV002415716

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_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
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Malignant tumor of breast
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA011001

rs_141893001

9 SubmittersRCV000172820 RCV000239355 RCV000567860 RCV000555261 RCV000758628 RCV001357402 RCV001798624

NM_000535.7(PMS2):c.2002A>G (p.Ile668Val)

SNV
Germline

Chr7:5986763

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA358701

rs_869320619

7 SubmittersRCV000172908 RCV000630142 RCV001179765 RCV001284205 RCV003454446 RCV001804905

NM_015272.5(RPGRIP1L):c.1156A>G (p.Lys386Glu)

SNV
Germline

Chr16:53664957

Conflicting classifications of pathogenicity

Nephronophthisis 8
Meckel syndrome, type 5
Joubert syndrome 7
Familial aplasia of the vermis
Meckel-Gruber syndrome
Condition: not provided
Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 1
Familial aplasia of the vermis
Inborn genetic diseases
RPGRIP1L-related disorder

Criteria Provided
Conflicting Classifications

CA239324

rs_137982921

10 SubmittersRCV000307599 RCV000339807 RCV000401583 RCV000697464 RCV000724780 RCV000765297 RCV001271337 RCV002516602 RCV004539604

NM_001378615.1(CC2D2A):c.1837G>A (p.Glu613Lys)

SNV
Germline

Chr4:15537971

Conflicting classifications of pathogenicity

Condition: not provided
Meckel syndrome, type 6
COACH syndrome 1
Joubert syndrome 9
Meckel syndrome, type 6
Joubert syndrome 9
Familial aplasia of the vermis
Meckel-Gruber syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA240849

rs_201439617

7 SubmittersRCV000724892 RCV000765755 RCV001147083 RCV001147084 RCV001479910 RCV004020077

NM_001378615.1(CC2D2A):c.2039G>A (p.Arg680His)

SNV
Germline

Chr4:15540872

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome 9
Meckel syndrome, type 6
Familial aplasia of the vermis
Meckel-Gruber syndrome
COACH syndrome 1
CC2D2A-related disorder

Criteria Provided
Conflicting Classifications

CA241005

rs_200236654

5 SubmittersRCV000175281 RCV001145223 RCV001145224 RCV001239969 RCV001329599 RCV004537379

NM_000377.3(WAS):c.285G>A (p.Leu95=)

SNV
Germline

ChrX:48685558

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA243149

rs_781799471

3 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

Criteria Provided
Conflicting Classifications

CA016385

rs_63749980

7 SubmittersRCV000178052 RCV000215538 RCV000226497 RCV004567381 RCV003996572

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

Criteria Provided
Conflicting Classifications

CA016498

rs_151034312

8 SubmittersRCV000179974 RCV000724105 RCV001083625 RCV001107198 RCV001107199 RCV001107200 RCV002255314

NM_000540.3(RYR1):c.11811G>A (p.Ser3937=)

SNV
Germline

Chr19:38543564

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA023939

rs_794727946

4 SubmittersRCV000180427 RCV002500520 RCV001852247 RCV003996587

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
Congenital myopathy with fiber type disproportion
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
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
Congenital multicore myopathy with external ophthalmoplegia
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1
Central core myopathy
Congenital myopathy with fiber type disproportion

Criteria Provided
Conflicting Classifications

CA024031

rs_794727985

4 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
Congenital myopathy with fiber type disproportion
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome

Criteria Provided
Conflicting Classifications

CA024125

rs_794728693

3 SubmittersRCV000182600 RCV000702407 RCV002485210

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

9 SubmittersRCV000653827 RCV000676803 RCV001161965 RCV001161966 RCV004020251 RCV004545876

NC_012920.1(MT-ND6):m.14597A>G

SNV
Germline

ChrMT:14597

Conflicting classifications of pathogenicity

Dysarthria
Dystonic disorder
Leigh syndrome
not specified

Criteria Provided
Conflicting Classifications

CA250381

rs_797045055

3 SubmittersRCV000191107 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
Condition: not provided
Familial aplasia of the vermis
Meckel-Gruber syndrome
CC2D2A-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA209079

rs_764719093

6 SubmittersRCV000194720 RCV000763523 RCV003238731 RCV003765214 RCV004528978

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
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA061474

rs_536148030

4 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
Mitochondrial complex III deficiency nuclear type 1
Leigh syndrome
GRACILE syndrome

Criteria Provided
Conflicting Classifications

CA325107

rs_144200704

4 SubmittersRCV000200525 RCV000886562 RCV001140092 RCV001140093 RCV001140853

NM_001079866.2(BCS1L):c.613G>A (p.Val205Ile)

SNV
Germline

Chr2:218661911

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA325212

rs_148278887

8 SubmittersRCV000200623 RCV000714568 RCV000949252 RCV001137962 RCV001137963 RCV001137961

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 1 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
Mitochondrial complex I deficiency, nuclear type 1
Leigh syndrome

Criteria Provided
Conflicting Classifications

CA324598

rs_374970309

2 SubmittersRCV000200045 RCV001141188 RCV001141189

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

8 SubmittersRCV000986628 RCV001137778 RCV000901776 RCV003937736 RCV002517228

NM_002495.4(NDUFS4):c.-6A>T

SNV
Germline

Chr5:53560657

Conflicting classifications of pathogenicity

not specified
Mitochondrial complex I deficiency, nuclear type 1
Leigh syndrome
NDUFS4-related disorder

Criteria Provided
Conflicting Classifications

CA323173

rs_73754255

3 SubmittersRCV000198638 RCV001151559 RCV001151560 RCV003917799

NM_002495.4(NDUFS4):c.10G>C (p.Val4Leu)

SNV
Germline

Chr5:53560672

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA325091

rs_185711494

3 SubmittersRCV000335188 RCV000960853 RCV001154576 RCV001154575

NM_002495.4(NDUFS4):c.13T>C (p.Ser5Pro)

SNV
Germline

Chr5:53560675

Conflicting classifications of pathogenicity

Condition: not provided
Mitochondrial complex I deficiency, nuclear type 1
Leigh syndrome
Leigh syndrome
Mitochondrial complex I deficiency
Inborn genetic diseases
NDUFS4-related disorder

Criteria Provided
Conflicting Classifications

CA323413

rs_149323691

5 SubmittersRCV000198881 RCV000295911 RCV000329830 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

not specified
Mitochondrial complex 1 deficiency, nuclear type 17
Leigh syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA325074

rs_201732170

6 SubmittersRCV000200495 RCV000412555 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

5 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

5 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

Criteria Provided
Conflicting Classifications

CA324443

rs_138061928

6 SubmittersRCV000199891 RCV000763714 RCV001107765

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

3 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

Criteria Provided
Conflicting Classifications

CA320767

rs_148331180

6 SubmittersRCV000274500 RCV000331648 RCV000884571 RCV004530169

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.700+12C>T

SNV
Germline

Chr11:67610582

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA320641

rs_200417926

3 SubmittersRCV000196215 RCV001104931 RCV001104932 RCV002517246

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 1 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

7 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
Condition: not provided
Lynch syndrome 8

Criteria Provided
Conflicting Classifications

CA338473

rs_34474955

3 SubmittersRCV002444801 RCV003539813 RCV003316106

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
Lynch syndrome 1
Hereditary cancer-predisposing syndrome
not specified
Breast and/or ovarian cancer
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA038898

rs_765489269

9 SubmittersRCV000197496 RCV000662894 RCV000579889 RCV000780448 RCV001798671 RCV001569704 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
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Lynch syndrome 1
Condition: not provided
Lynch syndrome 1
not specified
Lynch syndrome
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA027308

rs_751431238

10 SubmittersRCV000200127 RCV000564423 RCV000765666 RCV001589078 RCV003316110 RCV003155118 RCV003997012 RCV004528987

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

7 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

Criteria Provided
Conflicting Classifications

CA338107

rs_373564353

4 SubmittersRCV000774569 RCV000986673 RCV001201365

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
Lynch syndrome
not specified

Criteria Provided
Conflicting Classifications

CA031537

rs_730881777

10 SubmittersRCV000199035 RCV000235488 RCV000412070 RCV000566201 RCV003997014 RCV003323451

NM_000251.3(MSH2):c.2048G>T (p.Gly683Val)

SNV
Germline

Chr2:47476409

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA339026

rs_755920849

14 SubmittersRCV000199994 RCV000485278 RCV000410314 RCV000490871 RCV000767061 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

Criteria Provided
Conflicting Classifications

CA033486

rs_754824872

6 SubmittersRCV000195748 RCV000579733 RCV002307442 RCV003997018

NM_000251.3(MSH2):c.2197G>A (p.Ala733Thr)

SNV
Germline

Chr2:47476558

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA034588

rs_772662439

15 SubmittersRCV000236347 RCV000491392 RCV000524380 RCV000656998 RCV000662875 RCV001358322 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 cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA035050

rs_267608003

12 SubmittersRCV000236903 RCV000410446 RCV000590535 RCV000771124 RCV001080259 RCV003997015 RCV003491944

NM_000251.3(MSH2):c.2211-5T>G

SNV
Germline

Chr2:47478267

Conflicting classifications of pathogenicity

Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
not specified
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA035039

rs_368596736

9 SubmittersRCV000409905 RCV000568854 RCV000588531 RCV001086513 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
Mismatch repair cancer syndrome 2
Lynch syndrome 1
Muir-Torré syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA035098

rs_757268664

9 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

Criteria Provided
Conflicting Classifications

CA338683

rs_63750368

5 SubmittersRCV000199509 RCV000215183 RCV000411596

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
Condition: not provided
Mismatch repair cancer syndrome 1
Lynch syndrome 1
Lynch syndrome
not specified

Criteria Provided
Conflicting Classifications

CA035514

rs_767520406

9 SubmittersRCV000198539 RCV000569330 RCV002273983 RCV002288815 RCV003462325 RCV003997020 RCV003493487

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
Condition: not provided
Breast and/or ovarian cancer
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA037327

rs_34319539

6 SubmittersRCV000197107 RCV000491688 RCV001550881 RCV001798670 RCV003997022 RCV004567432

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

Criteria Provided
Conflicting Classifications

CA037340

rs_34319539

8 SubmittersRCV000198941 RCV000223226 RCV000235290 RCV000412048 RCV003997023

NM_000179.3(MSH6):c.41C>T (p.Ser14Phe)

SNV
Germline

Chr2:47783274

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA336718

rs_863224628

9 SubmittersRCV000196789 RCV000575547 RCV000662898 RCV001564528 RCV003150088 RCV003462323 RCV003997002

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
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA338295

rs_863224615

4 SubmittersRCV000198916 RCV000570887 RCV003996992

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
Mismatch repair cancer syndrome 1
Endometrial carcinoma
Lynch syndrome 5
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA337552

rs_863224616

7 SubmittersRCV000197947 RCV000575386 RCV000765677 RCV004567424 RCV003996993

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
Lynch syndrome 5
Condition: not provided
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA073285

rs_145959653

14 SubmittersRCV000197162 RCV000220344 RCV000582427 RCV000761118 RCV000663025 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
Endometrial carcinoma
Breast and/or ovarian cancer
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA073560

rs_55760494

10 SubmittersRCV000199066 RCV000214218 RCV000586061 RCV002267932 RCV003462324 RCV003491942 RCV003997003

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
Lynch syndrome 5
Mismatch repair cancer syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA073568

rs_587781510

6 SubmittersRCV000195580 RCV000219538 RCV000521245 RCV000845040 RCV003997004

NM_000179.3(MSH6):c.1045C>T (p.Gln349Ter)

SNV
Germline

Chr2:47799028

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA336780

rs_863224473

5 SubmittersRCV000196898 RCV001781579 RCV002399745 RCV003454497

NM_000179.3(MSH6):c.1296T>G (p.Phe432Leu)

SNV
Germline

Chr2:47799279

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA337394

rs_863224614

4 SubmittersRCV000485339 RCV001312494 RCV002381687 RCV003454502

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
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA338881

rs_587782706

3 SubmittersRCV001011654 RCV001340457 RCV003996994

NM_000179.3(MSH6):c.1894A>G (p.Lys632Glu)

SNV
Germline

Chr2:47799877

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA068250

rs_755847154

10 SubmittersRCV000198361 RCV000213164 RCV000411644 RCV000781573 RCV001357273 RCV001580468 RCV003996996

NM_000179.3(MSH6):c.2318T>C (p.Leu773Pro)

SNV
Germline

Chr2:47800301

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA337352

rs_863224623

3 SubmittersRCV001313045 RCV001190573 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
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA070049

rs_181727939

8 SubmittersRCV000199786 RCV000215044 RCV001194335 RCV003491941 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.3705T>C (p.Leu1235=)

SNV
Germline

Chr2:47806262

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA339009

rs_545552712

8 SubmittersRCV000199972 RCV000524184 RCV000561429 RCV001284019 RCV001824679 RCV003996955

NM_000249.4(MLH1):c.80G>A (p.Arg27Gln)

SNV
Germline

Chr3:36993627

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA038485

rs_138705565

11 SubmittersRCV000197307 RCV000573727 RCV000587717 RCV000662868 RCV003997011

NM_001378615.1(CC2D2A):c.3046G>A (p.Glu1016Lys)

SNV
Germline

Chr4:15563386

Conflicting classifications of pathogenicity

Joubert syndrome 9
Condition: not provided
Meckel syndrome, type 6
Familial aplasia of the vermis
Meckel-Gruber syndrome
Meckel syndrome, type 6
Joubert syndrome 9
COACH syndrome 2
CC2D2A-related disorder

Criteria Provided
Conflicting Classifications

CA338306

rs_373960465

8 SubmittersRCV000350715 RCV000344416 RCV000405623 RCV001087622 RCV002227457 RCV004530191

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
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA338369

rs_376018314

7 SubmittersRCV000199056 RCV000587224 RCV000662636 RCV003150086 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

8 SubmittersRCV000199546 RCV000218135 RCV001544673 RCV003320596 RCV003462329 RCV003491945

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

Criteria Provided
Conflicting Classifications

CA044339

rs_370236216

7 SubmittersRCV000199090 RCV000221963 RCV000486619 RCV000780620 RCV000987826

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

Criteria Provided
Multiple Submitters
No Conflicts

CA337884

rs_863224496

6 SubmittersRCV000708622 RCV001268094 RCV001389426 RCV003454500

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

Criteria Provided
Conflicting Classifications

CA052531

rs_530021751

8 SubmittersRCV000563510 RCV000588576 RCV001081365 RCV001357920 RCV003479057 RCV003996962

NM_000535.7(PMS2):c.537+1G>A

SNV
Germline

Chr7:6002452

Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Mismatch repair cancer syndrome 4
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA339064

rs_863224450

4 SubmittersRCV001377722 RCV002345713 RCV002485315 RCV003454495

NM_153704.6(TMEM67):c.725A>G (p.Asn242Ser)

SNV
Germline

Chr8:93780603

Pathogenic/Likely pathogenic

Familial aplasia of the vermis
Meckel-Gruber syndrome
Joubert syndrome 6
Inborn genetic diseases
Condition: not provided
Abnormality of the nervous system
COACH syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA277789

rs_775883520

9 SubmittersRCV000198666 RCV000201726 RCV000624166 RCV001090385 RCV001814102 RCV002283466

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
Condition: not provided
Cowden syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA279138

rs_863225060

3 SubmittersRCV000201238 RCV002254285 RCV001221647

NM_006218.4(PIK3CA):c.3129G>T (p.Met1043Ile)

SNV
Germline/somatic

Chr3:179234286

Pathogenic

PIK3CA related overgrowth syndrome
Neoplasm of the large intestine
Cowden syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA210107

rs_121913283

5 SubmittersRCV000201236 RCV000442578 RCV000631214 RCV003320599

NM_006218.4(PIK3CA):c.1635G>T (p.Glu545Asp)

SNV
Germline/somatic

Chr3:179218305

Pathogenic/Likely pathogenic

PIK3CA related overgrowth syndrome
Neoplasm of uterine cervix
Papillary renal cell carcinoma, sporadic
Gastric adenocarcinoma
Malignant melanoma of skin
Uterine carcinosarcoma
Prostate adenocarcinoma
Squamous cell carcinoma of the head and neck
Glioblastoma
Brainstem glioma
Breast neoplasm
Squamous cell lung carcinoma
Small cell lung carcinoma
Malignant neoplasm of body of uterus
Carcinoma of esophagus
Gallbladder carcinoma
Lung adenocarcinoma
Neoplasm of brain
Pancreatic adenocarcinoma
Neoplasm of the large intestine
Nasopharyngeal neoplasm
Ovarian serous cystadenocarcinoma
Transitional cell carcinoma of the bladder
Hepatocellular carcinoma
Papillary renal cell carcinoma type 1
Megalencephaly-capillary malformation-polymicrogyria syndrome
Cowden syndrome
Capillary malformation

Criteria Provided
Multiple Submitters
No Conflicts

CA210104

rs_121913275

6 SubmittersRCV000201234 RCV000419411 RCV000426549 RCV000420376 RCV000424034 RCV000425942 RCV000428214 RCV000435957 RCV000441768 RCV000444975 RCV000430430 RCV000430630 RCV000433104 RCV000436209 RCV000436795 RCV000421752 RCV000438449 RCV000421936 RCV000424819 RCV000444285 RCV000431980 RCV000445334 RCV000437183 RCV000444189 RCV000444369 RCV001775099 RCV002517302 RCV003485561

NM_001378615.1(CC2D2A):c.1558C>T (p.Arg520Ter)

SNV
Germline

Chr4:15533284

Pathogenic/Likely pathogenic

Joubert syndrome 9
Familial aplasia of the vermis
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.3055C>T (p.Arg1019Ter)

SNV
Germline

Chr4:15563395

Pathogenic/Likely pathogenic

Joubert syndrome 9
Condition: not provided
Meckel syndrome, type 6
Joubert syndrome 9
COACH syndrome 1
Familial aplasia of the vermis
Meckel-Gruber syndrome
CC2D2A-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA210269

rs_370880399

9 SubmittersRCV000201572 RCV000489696 RCV000763524 RCV000702498 RCV000778722

NM_001378615.1(CC2D2A):c.4667A>T (p.Asp1556Val)

SNV
Germline

Chr4:15599699

Pathogenic/Likely pathogenic

Joubert syndrome 9
Condition: not provided
Familial aplasia of the vermis
Familial aplasia of the vermis
Meckel-Gruber syndrome
CC2D2A-related disorder
Inborn genetic diseases
COACH syndrome 1
Neurodevelopmental disorder
Joubert syndrome and related disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA210318

rs_201502401

15 SubmittersRCV000201706 RCV000286210 RCV000347415 RCV000474430 RCV000778102 RCV001266486 RCV001542750 RCV002277554 RCV003317149

NM_153704.6(TMEM67):c.1321C>T (p.Arg441Cys)

SNV
Germline

Chr8:93786255

Conflicting classifications of pathogenicity

Joubert syndrome 6
Oligohydramnios
Renal cyst
Familial aplasia of the vermis
Inborn genetic diseases
14 conditions
Meckel syndrome, type 3
Bardet-Biedl syndrome 14
COACH syndrome 1
Nephronophthisis 11
Joubert syndrome 6
Meckel-Gruber syndrome
Familial aplasia of the vermis
Meckel syndrome, type 3

Criteria Provided
Conflicting Classifications

CA277817

rs_752362727

6 SubmittersRCV000201784 RCV000414925 RCV000623940 RCV000627003 RCV000763609 RCV001853244 RCV003997037

NM_015272.5(RPGRIP1L):c.3529C>T (p.Arg1177Ter)

SNV
Germline

Chr16:53619112

Pathogenic

Joubert syndrome 7
Familial aplasia of the vermis
Meckel-Gruber syndrome
Inborn genetic diseases
Joubert syndrome 7
Meckel syndrome, type 5
COACH syndrome 3
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA277753

rs_778533826

5 SubmittersRCV000201661 RCV001853237 RCV002517313 RCV002492927 RCV002509297

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

Criteria Provided
Multiple Submitters
No Conflicts

CA279694

rs_863225397

6 SubmittersRCV000202050 RCV000491505 RCV000703166 RCV001257468

NM_000251.3(MSH2):c.1177A>T (p.Lys393Ter)

SNV
Germline

Chr2:47429842

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA279759

rs_863225386

4 SubmittersRCV000202154 RCV002327056 RCV003454513 RCV003758724

NM_000251.3(MSH2):c.1237C>T (p.Gln413Ter)

SNV
Germline

Chr2:47429902

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA279693

rs_863225387

6 SubmittersRCV000202046 RCV000490844 RCV003593936 RCV003454514

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

Criteria Provided
Multiple Submitters
No Conflicts

CA027509

rs_267607953

10 SubmittersRCV000202216 RCV000460835 RCV000492023 RCV000576479

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
Single Submitter

CA279790

rs_863225401

4 SubmittersRCV000202222 RCV000664275 RCV001354409 RCV003454526

NM_000179.3(MSH6):c.3172G>C (p.Asp1058His)

SNV
Germline

Chr2:47801155

Likely pathogenic

not specified
Hereditary cancer-predisposing syndrome
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Carcinoma of colon

Reviewed By Expert Panel

CA279731

rs_863225404

5 SubmittersRCV000202089 RCV000491378 RCV000501351 RCV001039124 RCV001353871

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

Criteria Provided
Multiple Submitters
No Conflicts

CA279752

rs_863225383

7 SubmittersRCV000202144 RCV000216838 RCV002517340 RCV003454512 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

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

Reviewed By Expert Panel

CA350757

rs_864622041

8 SubmittersRCV000206750 RCV000215362 RCV000471873 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
Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA039056

rs_748762580

9 SubmittersRCV000203760 RCV000662969 RCV000771214 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
Mismatch repair cancer syndrome 2
Muir-Torré syndrome
Lynch syndrome 1
not specified
Condition: not provided
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA039073

rs_63750843

10 SubmittersRCV000214137 RCV000204442 RCV002485345 RCV003320603 RCV000759837 RCV003315420 RCV003997618

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
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA039588

rs_763298811

7 SubmittersRCV000204214 RCV000565649 RCV001556775 RCV003997641 RCV003315421

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
Lynch syndrome
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA039878

rs_267607930

11 SubmittersRCV000203689 RCV000565426 RCV000662873 RCV001722122 RCV001798681 RCV003235128 RCV003997616 RCV004530227

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

Criteria Provided
Conflicting Classifications

CA349912

rs_139891783

8 SubmittersRCV000205795 RCV000481152 RCV000657148 RCV001180058 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
Lynch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA027026

rs_774539871

7 SubmittersRCV000206649 RCV000216074 RCV003462383 RCV003997643 RCV001582711

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

7 SubmittersRCV000204444 RCV000600314 RCV000776439 RCV003454539

NM_000251.3(MSH2):c.1511-41G>C

SNV
Germline

Chr2:47466617

Conflicting classifications of pathogenicity

not specified
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA029317

rs_202215396

10 SubmittersRCV000455376 RCV000663053 RCV001520677 RCV001812214 RCV002257512 RCV004529007

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
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Breast and/or ovarian cancer
Lynch syndrome 1
Lynch syndrome
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA348608

rs_864622079

9 SubmittersRCV000204365 RCV000478447 RCV000570070 RCV001193995 RCV003150090 RCV003462360 RCV003997558 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
Lynch syndrome 1
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA031443

rs_779447213

6 SubmittersRCV000205243 RCV000567614 RCV000765669 RCV002469065 RCV003477681

NM_000251.3(MSH2):c.1804C>G (p.Leu602Val)

SNV
Germline

Chr2:47475069

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1
Malignant tumor of breast
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA031475

rs_748797209

10 SubmittersRCV000205416 RCV000221565 RCV000235312 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
not specified
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA350189

rs_864622093

8 SubmittersRCV000206123 RCV000562458 RCV000519579 RCV001201177 RCV003997560 RCV004567449

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

Criteria Provided
Conflicting Classifications

CA034373

rs_752883472

5 SubmittersRCV000206475 RCV001181937 RCV003230453 RCV003468962

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

Criteria Provided
Conflicting Classifications

CA035315

rs_371718349

6 SubmittersRCV000206397 RCV000219799 RCV000759827 RCV004567467

NM_000251.3(MSH2):c.2417C>T (p.Thr806Ile)

SNV
Germline

Chr2:47478478

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA035718

rs_758889557

7 SubmittersRCV000205485 RCV000480146 RCV000568311 RCV000708843

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

Criteria Provided
Conflicting Classifications

CA349143

rs_373393954

8 SubmittersRCV000204953 RCV000662576 RCV000565136 RCV001558974 RCV003997640

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
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA036472

rs_746972142

6 SubmittersRCV000204877 RCV000491044 RCV001570632 RCV003997603

NM_000179.3(MSH6):c.187T>C (p.Ser63Pro)

SNV
Germline

Chr2:47783420

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA068241

rs_763702846

12 SubmittersRCV000206061 RCV000217423 RCV000491346 RCV000663184 RCV000656886 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
Condition: not provided
not specified
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA348418

rs_864622281

12 SubmittersRCV000410492 RCV000565482 RCV000588097 RCV000855621 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
Lynch syndrome 5
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA069427

rs_762818044

9 SubmittersRCV000204000 RCV000491184 RCV000662780 RCV000587576 RCV003997628

NM_000179.3(MSH6):c.361C>T (p.Arg121Cys)

SNV
Germline

Chr2:47791027

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA071503

rs_763593669

11 SubmittersRCV000205461 RCV000483247 RCV000567183 RCV000662497 RCV001193121 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
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA073299

rs_765195534

6 SubmittersRCV000204219 RCV000216919 RCV000588780 RCV003997621

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
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA073402

rs_762168786

9 SubmittersRCV000204923 RCV000485879 RCV000657010 RCV001026289 RCV001142203

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
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA067228

rs_770386388

8 SubmittersRCV000204403 RCV000519465 RCV000574858 RCV002243887 RCV003997568 RCV003462366

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.1691C>A (p.Ser564Ter)

SNV
Germline

Chr2:47799674

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA349097

rs_864622153

9 SubmittersRCV000204908 RCV000481005 RCV000491176 RCV000576302 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
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA068049

rs_61748081

4 SubmittersRCV001012760 RCV001360388 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
not specified
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA068506

rs_373418713

9 SubmittersRCV000205525 RCV000214718 RCV000985830 RCV002254688 RCV003993891 RCV003997625 RCV004567469

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

Criteria Provided
Conflicting Classifications

CA070677

rs_773955368

14 SubmittersRCV000206715 RCV000508319 RCV000571369 RCV000663075 RCV000985259 RCV003468963 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
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA070715

rs_35642130

12 SubmittersRCV000206593 RCV000429486 RCV000491525 RCV001086511 RCV001137559 RCV003997659

NM_000179.3(MSH6):c.3431T>G (p.Met1144Arg)

SNV
Germline

Chr2:47803678

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA350840

rs_864622607

5 SubmittersRCV000206842 RCV000220316 RCV000482863 RCV001034622

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

Criteria Provided
Conflicting Classifications

CA071451

rs_781627838

7 SubmittersRCV000204738 RCV000791410 RCV000566750 RCV002243889 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

Criteria Provided
Conflicting Classifications

CA350752

rs_864622195

4 SubmittersRCV000206747 RCV000438354 RCV000662918

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

Criteria Provided
Conflicting Classifications

CA349759

rs_864622400

9 SubmittersRCV000205628 RCV000481950 RCV000562735 RCV000662811 RCV002247633 RCV003997619

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

Criteria Provided
Conflicting Classifications

CA072431

rs_780187989

10 SubmittersRCV000205455 RCV000217289 RCV000519500 RCV001711360 RCV003997660

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

Criteria Provided
Conflicting Classifications

CA072767

rs_778957100

8 SubmittersRCV000205656 RCV000579624 RCV001354582 RCV001711614 RCV002267938 RCV003997591

NM_000249.4(MLH1):c.552A>T (p.Ser184=)

SNV
Germline

Chr3:37011826

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
MLH1-related disorder
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA349361

rs_35225190

9 SubmittersRCV000205167 RCV000445067 RCV000571731 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
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA027194

rs_759868546

8 SubmittersRCV000206536 RCV000411042 RCV001009894 RCV001174565 RCV003997595

NM_000249.4(MLH1):c.1270G>A (p.Ala424Thr)

SNV
Germline

Chr3:37025868

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA028060

rs_377433038

9 SubmittersRCV000206553 RCV000485106 RCV000562644 RCV000657001 RCV000987172 RCV003997623

NM_000249.4(MLH1):c.1351A>G (p.Thr451Ala)

SNV
Germline

Chr3:37025949

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA348858

rs_864622145

4 SubmittersRCV001324571 RCV001507620 RCV002381702 RCV003997567

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

SNV
Germline

Chr3:37028933

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA348840

rs_267607832

5 SubmittersRCV000204627 RCV000223493 RCV000781542 RCV001507621 RCV003454544

NM_000535.7(PMS2):c.2380C>T (p.Pro794Ser)

SNV
Germline

Chr7:5977653

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA348346

rs_773393960

10 SubmittersRCV000204089 RCV000662637 RCV000764721 RCV000568777 RCV001328413 RCV003150094 RCV001753620

NM_000535.7(PMS2):c.1849C>T (p.Pro617Ser)

SNV
Germline

Chr7:5986916

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA348389

rs_864622096

5 SubmittersRCV000204145 RCV001013406 RCV001775669 RCV003462361

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 4
Mismatch repair cancer syndrome 1
Lynch syndrome 4
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA044318

rs_376142390

9 SubmittersRCV000206422 RCV000213296 RCV000587309 RCV000765957 RCV001160656 RCV003997572

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

10 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.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
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA043361

rs_766203500

10 SubmittersRCV000205693 RCV000662464 RCV000575149 RCV001193970 RCV003153480 RCV003997581

NM_000535.7(PMS2):c.121G>T (p.Glu41Ter)

SNV
Germline

Chr7:6005934

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA348188

rs_3209663

2 SubmittersRCV001381485 RCV003454541

NM_004168.4(SDHA):c.830C>T (p.Thr277Met)

SNV
Germline

Chr5:230935

Conflicting classifications of pathogenicity

Skeletal myopathy
Paragangliomas 5
Mitochondrial complex II deficiency, nuclear type 1
Hereditary cancer-predisposing syndrome
Leigh syndrome
Hereditary pheochromocytoma-paraganglioma
Mitochondrial complex II deficiency, nuclear type 1
Paragangliomas 5
Dilated cardiomyopathy 1GG
Condition: not provided

Criteria Provided
Conflicting Classifications

CA069792

rs_367721665

9 SubmittersRCV000208222 RCV000228322 RCV000570331 RCV000283732 RCV000342145 RCV000396726 RCV000411374 RCV003474989 RCV002510820

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

8 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
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA357817

rs_869312796

4 SubmittersRCV000210193 RCV000491646 RCV000920254

NM_000251.3(MSH2):c.1796T>C (p.Leu599Ser)

SNV
Germline

Chr2:47475061

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
not specified
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA031393

rs_747504492

13 SubmittersRCV000210095 RCV000219087 RCV000520524 RCV000530644 RCV000662912 RCV003330582 RCV004541299

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_000540.3(RYR1):c.2029C>T (p.Gln677Ter)

SNV
Germline

Chr19:38458154

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16616833

rs_878854365

4 SubmittersRCV000550931 RCV001782728 RCV002500828

NM_004168.4(SDHA):c.133G>A (p.Ala45Thr)

SNV
Germline

Chr5:223551

Conflicting classifications of pathogenicity

Mitochondrial complex II deficiency, nuclear type 1
Paragangliomas 5
Leigh syndrome
Hereditary pheochromocytoma-paraganglioma
Paragangliomas 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
Leigh syndrome
Mitochondrial complex II deficiency, nuclear type 1
Hereditary pheochromocytoma-paraganglioma
Paragangliomas 5
Mitochondrial complex II deficiency, nuclear type 1
Paragangliomas 5

Criteria Provided
Conflicting Classifications

CA358579

rs_149875171

14 SubmittersRCV000210523 RCV000247565 RCV000570838 RCV001157831 RCV001157832 RCV001157833 RCV001080809 RCV003316163

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
Mitochondrial complex II deficiency, nuclear type 1
Paragangliomas 5
Leigh syndrome
Hereditary cancer-predisposing syndrome
Mitochondrial complex II deficiency, nuclear type 1
Paragangliomas 5

Criteria Provided
Conflicting Classifications

CA358571

rs_187964306

10 SubmittersRCV000216190 RCV000224380 RCV000282383 RCV000374489 RCV000411625 RCV000349064 RCV000573807 RCV001080211

NM_004168.4(SDHA):c.822C>T (p.Gly274=)

SNV
Germline

Chr5:230927

Conflicting classifications of pathogenicity

Mitochondrial complex II deficiency, nuclear type 1
Paragangliomas 5
Leigh syndrome
Mitochondrial complex II deficiency, nuclear type 1
Hereditary pheochromocytoma-paraganglioma
not specified
Hereditary cancer-predisposing syndrome
Paragangliomas 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA358575

rs_34771391

9 SubmittersRCV000210510 RCV000287211 RCV000317795 RCV000372488 RCV000426962 RCV000570502 RCV003316165 RCV003736642

NM_004168.4(SDHA):c.1305G>T (p.Leu435=)

SNV
Germline

Chr5:236472

Conflicting classifications of pathogenicity

Mitochondrial complex II deficiency, nuclear type 1
Paragangliomas 5
Leigh syndrome
not specified
Mitochondrial complex II deficiency, nuclear type 1
Hereditary pheochromocytoma-paraganglioma
Hereditary cancer-predisposing syndrome
Condition: not provided
Paragangliomas 5

Criteria Provided
Conflicting Classifications

CA358583

rs_35964044

11 SubmittersRCV000210529 RCV000291485 RCV000242588 RCV000346462 RCV000376037 RCV000565630 RCV003114371 RCV003316166

NM_004168.4(SDHA):c.1413C>T (p.Ile471=)

SNV
Germline

Chr5:236580

Conflicting classifications of pathogenicity

Mitochondrial complex II deficiency, nuclear type 1
Paragangliomas 5
not specified
Hereditary cancer-predisposing syndrome
Mitochondrial complex II deficiency, nuclear type 1
Hereditary pheochromocytoma-paraganglioma
Leigh syndrome
Condition: not provided
Paragangliomas 5
SDHA-related disorder

Criteria Provided
Conflicting Classifications

CA358577

rs_34779890

11 SubmittersRCV000210520 RCV000437200 RCV000562445 RCV001157834 RCV001152356 RCV001152357 RCV001579483 RCV003316168 RCV004541303

NM_024120.5(NDUFAF5):c.836T>G (p.Met279Arg)

SNV
Germline

Chr20:13816520

Conflicting classifications of pathogenicity

Inborn genetic diseases
Mitochondrial complex I deficiency
Mitochondrial complex 1 deficiency, nuclear type 16
Leigh syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA358016

rs_761389904

6 SubmittersRCV000210569 RCV000679869 RCV001507280 RCV001275555 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

Criteria Provided
Multiple Submitters
No Conflicts

CA10576596

rs_876657701

5 SubmittersRCV000220084 RCV000492035 RCV000630030 RCV001264489 RCV003454595

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

9 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
Endometrial carcinoma
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA10577254

rs_63751077

5 SubmittersRCV000217643 RCV000491993 RCV000692262 RCV003463614 RCV003454671

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
Lynch syndrome
MSH6-related disorder
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA10577265

rs_876661043

10 SubmittersRCV000215890 RCV000225881 RCV000569553 RCV000662360 RCV003998620 RCV004541361 RCV004567677

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
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA068077

rs_542838372

9 SubmittersRCV000223441 RCV000555846 RCV000564916 RCV000766399 RCV003998645 RCV003469114

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 cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Endometrial carcinoma
Lynch syndrome 5
Gastric cancer

Reviewed By Expert Panel

CA069803

rs_63749919

9 SubmittersRCV000218181 RCV000491101 RCV000458194 RCV000623975 RCV003463615 RCV002467444 RCV003165582

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

Criteria Provided
Conflicting Classifications

CA069876

rs_115386788

7 SubmittersRCV000214813 RCV000534216 RCV000566696 RCV001354499 RCV003998623

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

Criteria Provided
Conflicting Classifications

CA10577285

rs_780345806

7 SubmittersRCV000222192 RCV000536806 RCV000562792 RCV001174616 RCV003998628

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

Criteria Provided
Conflicting Classifications

CA072425

rs_756216566

8 SubmittersRCV000216522 RCV000567812 RCV000630217 RCV001201279 RCV003463610 RCV003998616

NM_000249.4(MLH1):c.392C>G (p.Ser131Ter)

SNV
Germline

Chr3:37007002

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

CA10577305

rs_63749818

5 SubmittersRCV000220277 RCV001380045 RCV002354620 RCV001804961 RCV003454662

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

7 SubmittersRCV000214903 RCV000462302 RCV000774707 RCV001264530 RCV003998618 RCV004567675

NM_000535.7(PMS2):c.2560G>A (p.Ala854Thr)

SNV
Germline/somatic

Chr7:5973428

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA048880

rs_574371474

6 SubmittersRCV000530024 RCV000222472 RCV000217218 RCV001249991 RCV000764718

NM_000535.7(PMS2):c.2445+1G>T

SNV
Germline

Chr7:5977587

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Carcinoma of colon
Hereditary nonpolyposis colon cancer
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 RCV000575263 RCV000507182 RCV001358436 RCV001193818 RCV002288907 RCV002494606 RCV004017528

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.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

Criteria Provided
Conflicting Classifications

CA10577352

rs_113517055

7 SubmittersRCV000217968 RCV000476751 RCV000776211 RCV003153516 RCV002265698

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

Criteria Provided
Conflicting Classifications

CA10577358

rs_756420858

5 SubmittersRCV000213219 RCV001019303 RCV001487947 RCV003998635

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

6 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
not specified
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Condition: not provided
Malignant tumor of breast
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA042517

rs_745361721

15 SubmittersRCV000214339 RCV000222258 RCV000230374 RCV000662535 RCV000657052 RCV001354151 RCV003997985

NM_000251.2(MSH2):c.-82G>C

SNV
Germline

Chr2:47403110

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Condition: not provided
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA10577908

rs_866991159

5 SubmittersRCV000219414 RCV001267894 RCV001549839 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.157G>T (p.Ala53Ser)

SNV
Germline

Chr2:47403348

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA029624

rs_755931648

6 SubmittersRCV000222303 RCV000708826 RCV003469045 RCV000813496

NM_000251.3(MSH2):c.160G>A (p.Ala54Thr)

SNV
Germline

Chr2:47403351

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10577921

rs_749212640

6 SubmittersRCV000220104 RCV000679293 RCV000814579 RCV003997771

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
Condition: not provided
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA10577924

rs_876660001

7 SubmittersRCV000222393 RCV000550333 RCV001762495 RCV000662879

NM_000251.3(MSH2):c.260C>A (p.Ser87Tyr)

SNV
Germline

Chr2:47408449

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10577927

rs_587781447

6 SubmittersRCV000216857 RCV000235359 RCV002254690 RCV003997919 RCV001320134

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
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10577929

rs_876659747

6 SubmittersRCV000215101 RCV000227027 RCV001030705 RCV001532987 RCV003997972

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
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA10577932

rs_876658935

3 SubmittersRCV000221016 RCV000702606 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

3 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

Criteria Provided
Conflicting Classifications

CA040330

rs_761529282

5 SubmittersRCV000222095 RCV000526634 RCV000757937

NM_000251.3(MSH2):c.816G>A (p.Ala272=)

SNV
Germline

Chr2:47414292

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA040753

rs_368912987

8 SubmittersRCV000214094 RCV001139364 RCV000545840 RCV003998022 RCV001558615

NM_000251.3(MSH2):c.855C>G (p.Asn285Lys)

SNV
Germline

Chr2:47414331

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10577957

rs_759242666

7 SubmittersRCV000506029 RCV000213764 RCV000548278 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
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA041012

rs_201334592

9 SubmittersRCV000220130 RCV000411007 RCV000589679 RCV000469366 RCV003997848

NM_000251.3(MSH2):c.888C>G (p.Phe296Leu)

SNV
Germline

Chr2:47414364

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10577958

rs_876659918

6 SubmittersRCV000214812 RCV001067169 RCV000659880 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

Criteria Provided
Conflicting Classifications

CA041188

rs_780656204

5 SubmittersRCV000219588 RCV000461288 RCV003469076 RCV003998553

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

Criteria Provided
Conflicting Classifications

CA026646

rs_748115066

8 SubmittersRCV000220354 RCV000232111 RCV000236110 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

Criteria Provided
Conflicting Classifications

CA10577966

rs_876659861

4 SubmittersRCV000215205 RCV002057206 RCV003997986

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

9 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
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified

Criteria Provided
Conflicting Classifications

CA027079

rs_752373431

11 SubmittersRCV000214618 RCV000409794 RCV000480571 RCV000761006 RCV000546544 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
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA10577974

rs_876658223

4 SubmittersRCV000215886 RCV002229540 RCV003454612 RCV002519663

NM_000251.3(MSH2):c.1465G>A (p.Glu489Lys)

SNV
Germline

Chr2:47463109

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10577978

rs_876658187

8 SubmittersRCV000222532 RCV000473755 RCV000663243 RCV000236848 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
Mismatch repair cancer syndrome 2
Muir-Torré syndrome
Lynch syndrome 1
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA028810

rs_55653533

8 SubmittersRCV000219106 RCV000475338 RCV001589154 RCV002485427 RCV003462508 RCV003998020

NM_000251.3(MSH2):c.1489A>G (p.Ile497Val)

SNV
Germline

Chr2:47463133

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA028875

rs_755501968

8 SubmittersRCV000219613 RCV000986672 RCV000630079 RCV000483517 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

Criteria Provided
Conflicting Classifications

CA029432

rs_777195739

5 SubmittersRCV000214600 RCV000462815 RCV003477771 RCV003998597

NM_000251.3(MSH2):c.1661+5G>A

SNV
Germline

Chr2:47466813

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA10577982

rs_267607972

4 SubmittersRCV000216875 RCV001220176 RCV002509313 RCV002282051

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
Lynch syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA10577984

rs_201118107

14 SubmittersRCV000220254 RCV000230549 RCV000663329 RCV001358260 RCV001800541 RCV001818514

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
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Lynch syndrome 1
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
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA032124

rs_763100088

8 SubmittersRCV000222363 RCV000523371 RCV000629936 RCV001355204 RCV003998593 RCV003469093

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
Lynch syndrome 1
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA032208

rs_185356145

9 SubmittersRCV000213193 RCV000477485 RCV000791407 RCV000985799 RCV003469050 RCV004532791

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

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10577995

rs_876660711

6 SubmittersRCV000215510 RCV000484436 RCV000462315 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

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
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Lynch syndrome 1
Malignant tumor of breast

Criteria Provided
Conflicting Classifications

CA033790

rs_564657106

9 SubmittersRCV000222410 RCV000483732 RCV000227730 RCV000708841 RCV000411876 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
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA034085

rs_373226409

6 SubmittersRCV000213584 RCV000795839 RCV003998040 RCV003137826

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
MSH2-related disorder
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA034415

rs_747265823

4 SubmittersRCV000214268 RCV000524727 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
Muir-Torré syndrome
Mismatch repair cancer syndrome 2
Lynch syndrome 1
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
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA10578001

rs_876658254

4 SubmittersRCV000215978 RCV003454615 RCV001222233

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

Criteria Provided
Conflicting Classifications

CA10578009

rs_876659466

4 SubmittersRCV000218052 RCV000629882 RCV001175264 RCV003997937

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

Criteria Provided
Conflicting Classifications

CA036718

rs_752428475

10 SubmittersRCV000217383 RCV000229354 RCV001142095 RCV001722191 RCV003330590 RCV003997953 RCV004532792

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
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Reviewed By Expert Panel

CA10578019

rs_876660095

4 SubmittersRCV000219646 RCV000485238 RCV000793054 RCV000680209

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
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10578023

rs_876659020

6 SubmittersRCV000220037 RCV000464611 RCV003477728 RCV003997888

NM_000179.3(MSH6):c.184C>A (p.Arg62Ser)

SNV
Germline

Chr2:47783417

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10578027

rs_876659508

6 SubmittersRCV000219210 RCV000697068 RCV001705217 RCV003997941

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

Criteria Provided
Conflicting Classifications

CA073070

rs_763841886

6 SubmittersRCV000215845 RCV000534390 RCV001762481 RCV003997884

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

Criteria Provided
Conflicting Classifications

CA073334

rs_374041375

7 SubmittersRCV000223134 RCV000228836 RCV001355754 RCV001201254 RCV003997984 RCV003462500

NM_000179.3(MSH6):c.719G>A (p.Arg240Gln)

SNV
Germline

Chr2:47798702

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA073373

rs_542848931

9 SubmittersRCV000216536 RCV000659888 RCV000781606 RCV000476259 RCV000481509 RCV003997874 RCV003462452

NM_000179.3(MSH6):c.942C>G (p.Ser314Arg)

SNV
Germline

Chr2:47798925

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA073603

rs_150440246

9 SubmittersRCV000219163 RCV000475100 RCV000478810 RCV000659889 RCV000761132 RCV002265689

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
Lynch syndrome 5
Condition: not provided
Endometrial carcinoma
Lynch syndrome
not specified

Criteria Provided
Conflicting Classifications

CA10578055

rs_876658610

11 SubmittersRCV000216324 RCV000229706 RCV000663012 RCV000483787 RCV003462441 RCV003997842 RCV001328357

NM_000179.3(MSH6):c.1403G>C (p.Arg468Pro)

SNV
Germline

Chr2:47799386

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10578069

rs_41295268

7 SubmittersRCV000223504 RCV000486815 RCV000456959 RCV003469073 RCV003998047

NM_000179.3(MSH6):c.1501C>T (p.His501Tyr)

SNV
Germline

Chr2:47799484

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Lynch syndrome
MSH6-related disorder
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA067771

rs_779411998

8 SubmittersRCV000223633 RCV000467079 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

10 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

Criteria Provided
Conflicting Classifications

CA068227

rs_763606858

6 SubmittersRCV000217487 RCV000464191 RCV000480702 RCV001293521 RCV003998588

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

Criteria Provided
Conflicting Classifications

CA10578088

rs_768095444

5 SubmittersRCV000222892 RCV000478131 RCV000629954 RCV003998550

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

Criteria Provided
Conflicting Classifications

CA068389

rs_751778243

6 SubmittersRCV000213514 RCV000985829 RCV000529803 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.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.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.2668G>T (p.Val890Phe)

SNV
Germline

Chr2:47800651

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10578112

rs_786202628

8 SubmittersRCV000222312 RCV000507745 RCV000818639 RCV002508928 RCV002478792 RCV003462456

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
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA069715

rs_753034685

10 SubmittersRCV000213285 RCV000485366 RCV000555735 RCV000781579 RCV001355880 RCV003335237 RCV003997779 RCV003462414

NM_000179.3(MSH6):c.2963G>T (p.Arg988Leu)

SNV
Germline

Chr2:47800946

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA069886

rs_115386788

8 SubmittersRCV000223636 RCV000708883 RCV000465720 RCV000589846 RCV003462404

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.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.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.3417C>T (p.Gly1139=)

SNV
Germline

Chr2:47803664

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10578141

rs_876660283

3 SubmittersRCV000221461 RCV001363003 RCV003454648

NM_000179.3(MSH6):c.3467T>C (p.Met1156Thr)

SNV
Germline

Chr2:47804938

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10578145

rs_876659549

7 SubmittersRCV000217088 RCV000475398 RCV000482975 RCV000662884 RCV003997945

NM_000179.3(MSH6):c.3801+1G>T

SNV
Germline

Chr2:47806359

Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
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 SubmittersRCV000226322 RCV000217114 RCV000763498 RCV003137829 RCV003454661

NM_000179.3(MSH6):c.3841G>C (p.Glu1281Gln)

SNV
Germline

Chr2:47806491

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10578163

rs_876659115

8 SubmittersRCV000216678 RCV000708893 RCV000704640 RCV001358640 RCV003469028

NM_000179.3(MSH6):c.4001G>C (p.Arg1334Pro)

SNV
Germline

Chr2:47806651

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

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

Criteria Provided
Conflicting Classifications

CA038470

rs_371302926

11 SubmittersRCV000215834 RCV000505929 RCV000412189 RCV000985258 RCV000475873 RCV001535606 RCV003997811

NM_000249.4(MLH1):c.887T>C (p.Leu296Ser)

SNV
Germline

Chr3:37020312

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

CA038943

rs_63750547

9 SubmittersRCV000222772 RCV000527338 RCV000588023 RCV000663054 RCV001824695 RCV003997993

NM_000249.4(MLH1):c.931A>G (p.Lys311Glu)

SNV
Germline

Chr3:37020356

Likely pathogenic

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

Reviewed By Expert Panel

CA10578235

rs_876658657

6 SubmittersRCV000586755 RCV000473970 RCV000216819 RCV000790628 RCV000624023 RCV003469008

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
Paragangliomas 5
Mitochondrial complex II deficiency, nuclear type 1
Paragangliomas 5
Paragangliomas 5
Leigh syndrome
Mitochondrial complex II deficiency, nuclear type 1
Dilated cardiomyopathy 1GG
Condition: not provided
Dilated cardiomyopathy 1GG

Criteria Provided
Conflicting Classifications

CA3172957

rs_571292356

7 SubmittersRCV000214276 RCV000230633 RCV000663181 RCV000765826 RCV003477750 RCV004567619

NM_004168.4(SDHA):c.1973C>T (p.Pro658Leu)

SNV
Germline

Chr5:256398

Conflicting classifications of pathogenicity

Paragangliomas 5
Mitochondrial complex II deficiency, nuclear type 1
Hereditary cancer-predisposing syndrome
Hereditary pheochromocytoma-paraganglioma
Mitochondrial complex II deficiency, nuclear type 1
Paragangliomas 5
Dilated cardiomyopathy 1GG
Leigh syndrome
Mitochondrial complex II deficiency, nuclear type 1
Leigh syndrome
not specified
Condition: not provided
Dilated cardiomyopathy 1GG

Criteria Provided
Conflicting Classifications

CA3173475

rs_377632619

7 SubmittersRCV000649461 RCV000217918 RCV000333745 RCV000275247 RCV000765836 RCV000388419 RCV001818525 RCV001775682 RCV004567550

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
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA10578654

rs_876659900

5 SubmittersRCV000216032 RCV001056896 RCV000760558 RCV003454641

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.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

Criteria Provided
Conflicting Classifications

CA043129

rs_569947936

5 SubmittersRCV000214914 RCV000460028 RCV000481558 RCV000987831

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

Criteria Provided
Conflicting Classifications

CA043115

rs_569947936

7 SubmittersRCV000221391 RCV000521141 RCV000629994 RCV001731444 RCV003997861

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.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
PMS2-related disorder

Criteria Provided
Conflicting Classifications

CA052862

rs_186577215

11 SubmittersRCV000229543 RCV000223117 RCV000613399 RCV000758631 RCV001722189 RCV003491979 RCV003897493

NM_000535.7(PMS2):c.851C>G (p.Ser284Ter)

SNV
Germline

Chr7:5995586

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10578694

rs_587782898

4 SubmittersRCV000227122 RCV000215676 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.555C>T (p.Val185=)

SNV
Germline

Chr7:5999258

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA050341

rs_759078497

5 SubmittersRCV000223202 RCV000231061 RCV001722173 RCV003316196

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10578724

rs_587779340

10 SubmittersRCV000219075 RCV000735964 RCV001249235 RCV001530037 RCV001854704 RCV003454656

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

Criteria Provided
Conflicting Classifications

CA10578733

rs_876660608

3 SubmittersRCV000215922 RCV000758633 RCV001483904

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

5 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

4 SubmittersRCV000218387 RCV001569697 RCV003997800

NC_012920.1(MT-ATP6):m.8704A>G

SNV
Germline

ChrMT:8704

Conflicting classifications of pathogenicity

Condition: not provided
Leigh syndrome

Criteria Provided
Conflicting Classifications

CA10581258

rs_878852994

2 SubmittersRCV000224912 RCV000854295

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
Familial aplasia of the vermis
Familial aplasia of the vermis
Meckel-Gruber syndrome
Inborn genetic diseases
Meckel syndrome, type 5
COACH syndrome 3
Joubert syndrome 7
RPGRIP1L-related disorder

Criteria Provided
Conflicting Classifications

CA8057711

rs_148230131

8 SubmittersRCV000224936 RCV000272739 RCV000321854 RCV000364967 RCV001280344 RCV001854774 RCV002519757 RCV002500747 RCV004529383

NC_012920.1(MT-ATP6):m.9152T>C

SNV
Germline

ChrMT:9152

Conflicting classifications of pathogenicity

Condition: not provided
Mitochondrial-DNA disorder
Leigh syndrome

Criteria Provided
Conflicting Classifications

CA10581404

rs_878853096

3 SubmittersRCV000224169 RCV000709942 RCV000854460

NM_000251.3(MSH2):c.10C>A (p.Gln4Lys)

SNV
Germline

Chr2:47403201

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10581987

rs_878853797

9 SubmittersRCV000227770 RCV000480195 RCV000563870 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.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

Criteria Provided
Conflicting Classifications

CA035416

rs_772779997

6 SubmittersRCV000229561 RCV000235910 RCV000491448 RCV003150133 RCV003998761

NM_000251.3(MSH2):c.340G>T (p.Glu114Ter)

SNV
Germline

Chr2:47408529

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10581993

rs_878853815

5 SubmittersRCV000228392 RCV001020232 RCV003454701 RCV000985808 RCV001034685

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

Criteria Provided
Conflicting Classifications

CA040278

rs_370906735

7 SubmittersRCV000230625 RCV000564902 RCV001557291 RCV003463649 RCV003998764

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.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

4 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

Criteria Provided
Conflicting Classifications

CA040882

rs_150197753

12 SubmittersRCV000232025 RCV000422592 RCV000573521 RCV000986654 RCV001705241 RCV003998767 RCV004541371

NM_000251.3(MSH2):c.1077-7A>G

SNV
Germline

Chr2:47429735

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
not specified
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA026935

rs_370807334

8 SubmittersRCV000232807 RCV000417988 RCV001705240 RCV002258835 RCV003998749 RCV004541370

NM_000251.3(MSH2):c.1130A>G (p.Gln377Arg)

SNV
Germline

Chr2:47429795

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA027052

rs_776174711

11 SubmittersRCV000229489 RCV000479748 RCV000662583 RCV001017396 RCV001193852 RCV003491996 RCV003998751

NM_000251.3(MSH2):c.1171G>A (p.Ala391Thr)

SNV
Germline

Chr2:47429836

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10582008

rs_878853798

10 SubmittersRCV000227304 RCV001589170 RCV000566323 RCV000662565 RCV000780444 RCV003998752

NM_000251.3(MSH2):c.1225C>G (p.Gln409Glu)

SNV
Germline

Chr2:47429890

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA10582010

rs_151244108

4 SubmittersRCV001185296 RCV001319460 RCV003469136

NM_000251.3(MSH2):c.1301C>T (p.Ala434Val)

SNV
Germline

Chr2:47445572

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA027829

rs_768070717

7 SubmittersRCV000232170 RCV000573477 RCV000589179 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
Lynch syndrome 1
Condition: not provided
Breast and/or ovarian cancer
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA028135

rs_575905950

8 SubmittersRCV000225970 RCV000573569 RCV003338475 RCV000985795 RCV003150132 RCV003998755

NM_000251.3(MSH2):c.1937A>C (p.Asp646Ala)

SNV
Germline

Chr2:47475202

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA032095

rs_41295290

8 SubmittersRCV000228698 RCV000575069 RCV000483596 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.2697G>T (p.Met899Ile)

SNV
Germline

Chr2:47482841

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Breast carcinoma
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10582028

rs_878853813

5 SubmittersRCV000233718 RCV001262889 RCV001016339 RCV003469138 RCV003998762

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

9 SubmittersRCV000231382 RCV000485086 RCV000565937 RCV000663160 RCV000781561

NM_000251.3(MSH2):c.2801C>A (p.Thr934Lys)

SNV
Germline

Chr2:47482945

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA037620

rs_587779969

10 SubmittersRCV000767184 RCV000234169 RCV000235791 RCV001353614 RCV000564878 RCV000662845

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
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA067275

rs_756673077

7 SubmittersRCV000232522 RCV000491059 RCV000611965 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

Criteria Provided
Conflicting Classifications

CA067716

rs_775498550

5 SubmittersRCV000233115 RCV000773125 RCV003320618 RCV003998708

NM_000179.3(MSH6):c.251C>T (p.Ala84Val)

SNV
Germline

Chr2:47783484

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10582035

rs_878853717

6 SubmittersRCV000229669 RCV000491394 RCV001354734 RCV001572461 RCV003998719

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

9 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
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome
MSH6-related disorder

Criteria Provided
Conflicting Classifications

CA1649445

rs_1042819

10 SubmittersRCV000234680 RCV000445727 RCV000759841 RCV001082552 RCV001290648 RCV003998706 RCV004532832

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

11 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
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA068470

rs_751867550

10 SubmittersRCV000227011 RCV000483631 RCV000580465 RCV000662419 RCV003998715 RCV003469132

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

7 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
Lynch syndrome 5
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10582065

rs_878853718

3 SubmittersRCV000232801 RCV003454689 RCV002433946

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

Criteria Provided
Conflicting Classifications

CA10582071

rs_878853723

8 SubmittersRCV000231932 RCV000571874 RCV000581651 RCV001589169 RCV003463639 RCV003998722 RCV004529388

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

Criteria Provided
Conflicting Classifications

CA10582083

rs_730881804

8 SubmittersRCV000225977 RCV000480996 RCV000584577 RCV000662750 RCV004567713

NM_000179.3(MSH6):c.3350G>T (p.Cys1117Phe)

SNV
Germline

Chr2:47803597

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA070699

rs_773245315

6 SubmittersRCV000230242 RCV000487138 RCV000570386 RCV003998729

NM_000179.3(MSH6):c.3438+17G>C

SNV
Germline

Chr2:47803702

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA070832

rs_759737239

4 SubmittersRCV000426415 RCV000412183 RCV000583188 RCV002057234

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
Lynch syndrome 5
Papillary carcinoma of the corpus uteri

Criteria Provided
Multiple Submitters
No Conflicts

CA10582086

rs_398123231

8 SubmittersRCV000228304 RCV000580568 RCV000657748 RCV000781603 RCV003454692 RCV003137833

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.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.117-10G>A

SNV
Germline

Chr3:36996609

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA027522

rs_576724240

6 SubmittersRCV000227602 RCV000583139 RCV000601988 RCV001722211 RCV003998737

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
not specified
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA039074

rs_779581111

10 SubmittersRCV000234748 RCV000581030 RCV000780417 RCV000759816 RCV001147025 RCV003998746

NM_000249.4(MLH1):c.1990-6G>A

SNV
Germline

Chr3:37048898

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA032135

rs_117221851

13 SubmittersRCV000226567 RCV000430988 RCV000580651 RCV000663093 RCV001533528 RCV003929936 RCV003998741

NM_001378615.1(CC2D2A):c.2326G>A (p.Gly776Arg)

SNV
Germline

Chr4:15550968

Conflicting classifications of pathogenicity

Condition: not provided
COACH syndrome 1
Joubert syndrome 9
Meckel syndrome, type 6
Familial aplasia of the vermis
Meckel-Gruber syndrome
CC2D2A-related disorder
Meckel syndrome, type 6
Joubert syndrome 9

Criteria Provided
Conflicting Classifications

CA2863889

rs_200764366

6 SubmittersRCV000726192 RCV000765757 RCV001084783 RCV001150183 RCV001150184 RCV001150185

NM_004168.4(SDHA):c.441C>T (p.Pro147=)

SNV
Germline

Chr5:225547

Conflicting classifications of pathogenicity

Mitochondrial complex II deficiency, nuclear type 1
Paragangliomas 5
Leigh syndrome
Mitochondrial complex II deficiency, nuclear type 1
Hereditary pheochromocytoma-paraganglioma
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA3172819

rs_201453889

3 SubmittersRCV000233726 RCV000332396 RCV000389166 RCV000274933 RCV000564203

NM_004168.4(SDHA):c.442G>A (p.Ala148Thr)

SNV
Germline

Chr5:225548

Conflicting classifications of pathogenicity

Mitochondrial complex II deficiency, nuclear type 1
Paragangliomas 5
Leigh syndrome
Mitochondrial complex II deficiency, nuclear type 1
Hereditary pheochromocytoma-paraganglioma
Hereditary cancer-predisposing syndrome
Dilated cardiomyopathy 1GG
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3172820

rs_375576259

5 SubmittersRCV000228365 RCV000287726 RCV000383376 RCV000345164 RCV000572868 RCV003475076 RCV003477820

NM_004168.4(SDHA):c.777C>T (p.Tyr259=)

SNV
Germline

Chr5:230882

Conflicting classifications of pathogenicity

Paragangliomas 5
Mitochondrial complex II deficiency, nuclear type 1
Hereditary cancer-predisposing syndrome
Leigh syndrome
Hereditary pheochromocytoma-paraganglioma
Mitochondrial complex II deficiency, nuclear type 1
Condition: not provided
SDHA-related disorder

Criteria Provided
Conflicting Classifications

CA3172993

rs_140243793

6 SubmittersRCV000234552 RCV000567901 RCV001153420 RCV001153421 RCV001153422 RCV003430784 RCV004541406

NM_004168.4(SDHA):c.1661G>A (p.Arg554Gln)

SNV
Germline

Chr5:251101

Conflicting classifications of pathogenicity

Paragangliomas 5
Mitochondrial complex II deficiency, nuclear type 1
Hereditary cancer-predisposing syndrome
Paragangliomas 5
Hereditary pheochromocytoma-paraganglioma
Mitochondrial complex II deficiency, nuclear type 1
Leigh syndrome
not specified
Condition: not provided
SDHA-related disorder

Criteria Provided
Conflicting Classifications

CA3173313

rs_376391115

9 SubmittersRCV000226282 RCV000565244 RCV000663186 RCV001153644 RCV001153645 RCV001153646 RCV002267990 RCV002253311 RCV004541404

NM_004168.4(SDHA):c.1979C>G (p.Ala660Gly)

SNV
Germline

Chr5:256404

Conflicting classifications of pathogenicity

Paragangliomas 5
Mitochondrial complex II deficiency, nuclear type 1
Paragangliomas 5
Hereditary cancer-predisposing syndrome
Condition: not provided
Leigh syndrome
Hereditary pheochromocytoma-paraganglioma
Mitochondrial complex II deficiency, nuclear type 1
SDHA-related disorder

Criteria Provided
Conflicting Classifications

CA3173479

rs_191412461

12 SubmittersRCV000227636 RCV000409751 RCV000563763 RCV000998351 RCV001158017 RCV001158019 RCV001158018 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
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA043685

rs_1805323

8 SubmittersRCV000227437 RCV000479471 RCV000570329 RCV002288911 RCV003998786

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

Criteria Provided
Conflicting Classifications

CA10582513

rs_587780040

5 SubmittersRCV000227364 RCV000567547 RCV000759913 RCV003463655

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10582518

rs_878854059

3 SubmittersRCV000230352 RCV002372260 RCV003454707

NM_000535.7(PMS2):c.903G>A (p.Lys301=)

SNV
Germline

Chr7:5995534

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA052331

rs_267608153

5 SubmittersRCV000228489 RCV000614513 RCV000573516 RCV001762520 RCV003454708

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

Criteria Provided
Conflicting Classifications

CA049693

rs_752284380

8 SubmittersRCV000233053 RCV000566584 RCV000662749 RCV002503891 RCV003998793

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
Lynch syndrome
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA049404

rs_376449640

14 SubmittersRCV000226224 RCV000586664 RCV000663107 RCV000507750 RCV000581327 RCV001535734 RCV003998791 RCV001798733

NM_024426.6(WT1):c.662-6C>A

SNV
Germline

Chr11:32428625

Conflicting classifications of pathogenicity

Frasier syndrome
Wilms tumor 1
Drash syndrome
11p partial monosomy syndrome
not specified
Drash syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA065416

rs_372418954

10 SubmittersRCV000227539 RCV000455551 RCV000988517 RCV001567721 RCV002256171

NM_024426.6(WT1):c.375C>T (p.Gly125=)

SNV
Germline

Chr11:32434986

Conflicting classifications of pathogenicity

Condition: not provided
Wilms tumor 1
Nephrotic syndrome, type 4
Meacham syndrome
Frasier syndrome
Wilms tumor 1
Drash syndrome
11p partial monosomy syndrome
Hereditary cancer-predisposing syndrome
WT1-related disorder

Criteria Provided
Conflicting Classifications

CA064860

rs_776209354

5 SubmittersRCV000229394 RCV000373715 RCV000402704 RCV000338855 RCV001081658 RCV002256170 RCV004547616

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

Criteria Provided
Conflicting Classifications

CA064811

rs_547333427

8 SubmittersRCV000276013 RCV000329886 RCV000389047 RCV000832485 RCV001083587 RCV002257599

NM_024426.6(WT1):c.193G>A (p.Gly65Arg)

SNV
Germline

Chr11:32435168

Conflicting classifications of pathogenicity

Frasier syndrome
Wilms tumor 1
Drash syndrome
11p partial monosomy syndrome
Nephrotic syndrome, type 4
Wilms tumor 1
Meacham syndrome
Condition: not provided
not specified
Hereditary cancer-predisposing syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA064714

rs_374404615

9 SubmittersRCV000229513 RCV001105881 RCV001104737 RCV001105882 RCV001563568 RCV001820764 RCV002257598 RCV002519803

NM_003172.4(SURF1):c.586C>T (p.Gln196Ter)

SNV
Germline

Chr9:133352696

Pathogenic

Leigh syndrome
Condition: not provided
SURF1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA10584085

rs_147816470

4 SubmittersRCV000235079 RCV000578885 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
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA10584201

rs_63749907

5 SubmittersRCV000235367 RCV000572196 RCV000688689 RCV003463696

NM_000251.3(MSH2):c.185G>C (p.Gly62Ala)

SNV
Germline

Chr2:47403376

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10584202

rs_879254195

4 SubmittersRCV000236172 RCV000630120 RCV003298310 RCV004567781

NM_000251.3(MSH2):c.294T>A (p.Tyr98Ter)

SNV
Germline

Chr2:47408483

Pathogenic

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10584204

rs_763872353

4 SubmittersRCV000235827 RCV001854868 RCV003454719

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
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colon cancer
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10584207

rs_267607924

7 SubmittersRCV000236788 RCV000471120 RCV000791394 RCV001020825 RCV001526857 RCV003454715

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 nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA040766

rs_530814648

6 SubmittersRCV000236426 RCV000458697 RCV000564711 RCV001356679 RCV003998919

NM_000251.3(MSH2):c.891C>G (p.Ser297Arg)

SNV
Germline

Chr2:47414367

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10584210

rs_551236465

6 SubmittersRCV000236690 RCV000456430 RCV000563882 RCV003463695

NM_000251.3(MSH2):c.897T>G (p.Tyr299Ter)

SNV
Germline

Chr2:47414373

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10584211

rs_879254104

4 SubmittersRCV000236542 RCV001056344 RCV002444936 RCV003454717

NM_000251.3(MSH2):c.1276G>A (p.Gly426Arg)

SNV
Germline

Chr2:47429941

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA10584213

rs_879254234

3 SubmittersRCV000236876 RCV001061266 RCV003454720

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.2009C>A (p.Pro670His)

SNV
Germline

Chr2:47476370

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10584219

rs_41294982

4 SubmittersRCV000235402 RCV000561699 RCV000708838 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 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10584222

rs_879254183

6 SubmittersRCV000236064 RCV000556812 RCV000564620 RCV003469187 RCV003998917

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

11 SubmittersRCV000456146 RCV000569234 RCV000585967 RCV001526856 RCV003469179

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

Criteria Provided
Conflicting Classifications

CA1974200

rs_138276021

3 SubmittersRCV000238882 RCV000911281 RCV002518507

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

6 SubmittersRCV000238998 RCV000562339 RCV000702288 RCV000840443 RCV004541470

NM_000179.3(MSH6):c.3992G>T (p.Arg1331Leu)

SNV
Germline

Chr2:47806642

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA072455

rs_184131049

4 SubmittersRCV000239122 RCV001021599 RCV001046197 RCV003463708

NM_004168.4(SDHA):c.1002G>A (p.Ala334=)

SNV
Germline

Chr5:233583

Conflicting classifications of pathogenicity

Paragangliomas 5
Mitochondrial complex II deficiency, nuclear type 1
Hereditary cancer-predisposing syndrome
Leigh syndrome
Mitochondrial complex II deficiency, nuclear type 1
Hereditary pheochromocytoma-paraganglioma
Condition: not provided
not specified
Paragangliomas 5
SDHA-related disorder

Criteria Provided
Conflicting Classifications

CA3173063

rs_144252500

10 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
Mitochondrial complex II deficiency, nuclear type 1
Paragangliomas 5
Leigh syndrome
Mitochondrial complex II deficiency, nuclear type 1
Hereditary pheochromocytoma-paraganglioma
Paragangliomas 5

Criteria Provided
Conflicting Classifications

CA3173306

rs_35502109

14 SubmittersRCV000239362 RCV000242066 RCV000569690 RCV001081440 RCV001153642 RCV001153643 RCV001153641 RCV003316319

NM_004168.4(SDHA):c.1919A>G (p.Glu640Gly)

SNV
Germline

Chr5:256344

Conflicting classifications of pathogenicity

Mitochondrial complex II deficiency, nuclear type 1
Paragangliomas 5
Hereditary cancer-predisposing syndrome
Paragangliomas 5
Condition: not provided
Leigh syndrome
Mitochondrial complex II deficiency, nuclear type 1
Paragangliomas 5
Dilated cardiomyopathy 1GG

Criteria Provided
Conflicting Classifications

CA3173461

rs_372480044

7 SubmittersRCV000239361 RCV000574591 RCV000663177 RCV000836807 RCV000765835

NM_004168.4(SDHA):c.549C>T (p.Gly183=)

SNV
Germline

Chr5:225975

Conflicting classifications of pathogenicity

Mitochondrial complex II deficiency, nuclear type 1
Paragangliomas 5
not specified
Leigh syndrome
Hereditary pheochromocytoma-paraganglioma
Mitochondrial complex II deficiency, nuclear type 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Paragangliomas 5

Criteria Provided
Conflicting Classifications

CA3172874

rs_61733344

13 SubmittersRCV000239367 RCV000418051 RCV000291747 RCV000339713 RCV000394814 RCV000571465 RCV001800618 RCV003316320

NM_004168.4(SDHA):c.991G>A (p.Ala331Thr)

SNV
Germline

Chr5:233572

Conflicting classifications of pathogenicity

Paragangliomas 5
Mitochondrial complex II deficiency, nuclear type 1
Hereditary cancer-predisposing syndrome
Paragangliomas 5
Leigh syndrome
Mitochondrial complex II deficiency, nuclear type 1
Dilated cardiomyopathy 1GG
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
Nephrotic syndrome, type 4
Wilms tumor 1
11p partial monosomy syndrome
Drash syndrome
Frasier syndrome
Wilms tumor 1
Hereditary cancer-predisposing syndrome
Meacham syndrome

Criteria Provided
Conflicting Classifications

CA065495

rs_9332974

6 SubmittersRCV000250757 RCV000322068 RCV000464602 RCV000262238 RCV002257622 RCV000376647

NM_024426.6(WT1):c.381C>G (p.Pro127=)

SNV
Germline

Chr11:32434980

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
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA064867

rs_771681406

7 SubmittersRCV000250670 RCV000296276 RCV000331399 RCV000385897 RCV000458360 RCV001091948 RCV002255349

NM_000251.3(MSH2):c.1204C>G (p.Gln402Glu)

SNV
Germline

Chr2:47429869

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

CA10588342

rs_63751412

7 SubmittersRCV000255442 RCV001010317 RCV000704303 RCV002248492 RCV003995743 RCV004567809

NM_000251.3(MSH2):c.1865C>G (p.Pro622Arg)

SNV
Germline

Chr2:47475130

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10588344

rs_28929483

5 SubmittersRCV000256112 RCV000491622 RCV000506471 RCV000629692 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 cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Carcinoma of colon

Criteria Provided
Conflicting Classifications

CA10588345

rs_63751432

6 SubmittersRCV000255143 RCV000501019 RCV000772137 RCV000803818 RCV001353568

NM_000377.3(WAS):c.223G>A (p.Val75Met)

SNV
Germline

ChrX:48684373

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10403870

rs_782290433

5 SubmittersRCV000255132 RCV000589566 RCV000768136

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

5 SubmittersRCV000006553 RCV000266470 RCV002469094

NM_003172.4(SURF1):c.688C>T (p.Arg230Ter)

SNV
Germline

Chr9:133352509

Pathogenic

Condition: not provided
Leigh syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10603164

rs_782623477

4 SubmittersRCV000321649 RCV000631405

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
Familial aplasia of the vermis
Familial aplasia of the vermis
Joubert syndrome 7
COACH syndrome 3
Meckel syndrome, type 5
Joubert syndrome 7
not specified
RPGRIP1L-related disorder

Criteria Provided
Conflicting Classifications

CA8057968

rs_183419371

9 SubmittersRCV000375576 RCV001117359 RCV001117358 RCV001241000 RCV001833330 RCV001117360 RCV002487213 RCV004017583 RCV004535307

NM_022552.5(DNMT3A):c.1903C>T (p.Arg635Trp)

SNV
Germline

Chr2:25243931

Conflicting classifications of pathogenicity

Tatton-Brown-Rahman overgrowth syndrome
Condition: not provided
Heyn-Sproul-Jackson syndrome
Acute myeloid leukemia
Tatton-Brown-Rahman overgrowth syndrome
Tatton-Brown-Rahman overgrowth syndrome
Autism spectrum disorder

Criteria Provided
Conflicting Classifications

CA1555830

rs_144689354

5 SubmittersRCV000367312 RCV000433567 RCV003883148 RCV003313065

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
Meckel-Gruber syndrome
Familial aplasia of the vermis
COACH syndrome 3
Meckel syndrome, type 5
Joubert syndrome 7
Familial aplasia of the vermis
RPGRIP1L-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8057737

rs_147366111

8 SubmittersRCV000276180 RCV000325211 RCV000382161 RCV000725929 RCV001243651 RCV002487244 RCV001271332 RCV004529473 RCV004021214

NM_001378615.1(CC2D2A):c.2483G>A (p.Arg828Gln)

SNV
Germline

Chr4:15553302

Conflicting classifications of pathogenicity

Condition: not provided
Familial aplasia of the vermis
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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5542824

rs_146764905

7 SubmittersRCV000389149 RCV000644615 RCV001701933 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
Thrombocytopenia 1
Wiskott-Aldrich syndrome
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
COACH syndrome 1
Meckel syndrome, type 6
Joubert syndrome 9
Meckel-Gruber syndrome
Familial aplasia of the vermis
Inborn genetic diseases
CC2D2A-related disorder

Criteria Provided
Conflicting Classifications

CA2864205

rs_188891842

6 SubmittersRCV000263818 RCV000765761 RCV001081652 RCV002521992 RCV004543114

NM_001378615.1(CC2D2A):c.2945G>A (p.Arg982His)

SNV
Germline

Chr4:15560553

Conflicting classifications of pathogenicity

Condition: not provided
COACH syndrome 1
Meckel syndrome, type 6
Joubert syndrome 9
Meckel-Gruber syndrome
Familial aplasia of the vermis
CC2D2A-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2864042

rs_150093365

6 SubmittersRCV000321273 RCV000765759 RCV001087972 RCV004543116 RCV002518042

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
Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 1
Condition: not provided
Meckel-Gruber syndrome
Familial aplasia of the vermis
Familial aplasia of the vermis
Inborn genetic diseases
RPGRIP1L-related disorder

Criteria Provided
Conflicting Classifications

CA8057696

rs_143863631

8 SubmittersRCV000264423 RCV000303891 RCV000361003 RCV000765294 RCV000726350 RCV001054615 RCV001833391 RCV002522007 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
Frasier syndrome
Wilms tumor 1
11p partial monosomy syndrome
Drash syndrome

Criteria Provided
Conflicting Classifications

CA064082

rs_527655625

2 SubmittersRCV000288082 RCV001081282

NM_001378615.1(CC2D2A):c.1691C>T (p.Thr564Met)

SNV
Germline

Chr4:15537003

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2863732

rs_201954181

6 SubmittersRCV000335348 RCV001149502 RCV001149503 RCV002487294 RCV002518166 RCV001248140 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

3 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

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10613578

rs_886056136

4 SubmittersRCV002057703 RCV000345749 RCV000581774

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
Hereditary nonpolyposis colorectal neoplasms
not specified
Malignant tumor of breast
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA10613588

rs_886056141

8 SubmittersRCV000381615 RCV000573597 RCV000588746 RCV001085785 RCV000855622 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 1 deficiency, nuclear type 5
Condition: not provided
See cases

Criteria Provided
Conflicting Classifications

CA2070426

rs_137889316

7 SubmittersRCV000348996 RCV000397471 RCV001728094 RCV001861145 RCV002252098

NM_001079866.2(BCS1L):c.-14G>A

SNV
Germline

Chr2:218660974

Conflicting classifications of pathogenicity

Mitochondrial complex III deficiency nuclear type 1
GRACILE syndrome
Leigh syndrome
not specified

Criteria Provided
Conflicting Classifications

CA2109591

rs_367721351

2 SubmittersRCV000302189 RCV000340599 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

Criteria Provided
Conflicting Classifications

CA2109770

rs_112329020

4 SubmittersRCV000311482 RCV000351273 RCV000401551 RCV000426045 RCV000913045

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

Criteria Provided
Conflicting Classifications

CA10615505

rs_587781657

6 SubmittersRCV000300787 RCV000688085 RCV000564277 RCV001571224 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
Leigh syndrome
Mitochondrial complex II deficiency, nuclear type 1
Paragangliomas 5
Mitochondrial complex II deficiency, nuclear type 1
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA3172951

rs_146653693

14 SubmittersRCV000275715 RCV000381733 RCV000334152 RCV000457962 RCV000562470 RCV001529253 RCV001821078

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
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10620256

rs_886060515

2 SubmittersRCV000260734 RCV000316002 RCV000355512 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_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

Criteria Provided
Conflicting Classifications

CA3172673

rs_560932680

5 SubmittersRCV000279041 RCV000317717 RCV000380480 RCV001013984 RCV003137969

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
Mitochondrial complex II deficiency, nuclear type 1
Paragangliomas 5
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.*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_024426.6(WT1):c.887+4G>A

SNV
Germline

Chr11:32427952

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA065807

rs_778673400

3 SubmittersRCV000261951 RCV000368224 RCV000353359 RCV000470103

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
Wilms tumor 1
11p partial monosomy syndrome
Frasier syndrome

Criteria Provided
Conflicting Classifications

CA10630774

rs_886048228

2 SubmittersRCV000270783 RCV000325850 RCV000385110 RCV001406430

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

Criteria Provided
Conflicting Classifications

CA10634685

rs_886048227

4 SubmittersRCV000272000 RCV000310774 RCV000359651 RCV000897033 RCV003588613

NM_024426.6(WT1):c.174C>G (p.Leu58=)

SNV
Germline

Chr11:32435187

Conflicting classifications of pathogenicity

Wilms tumor 1
Nephrotic syndrome, type 4
Meacham syndrome
Drash syndrome
Wilms tumor 1
11p partial monosomy syndrome
Frasier syndrome
Hereditary cancer-predisposing syndrome
WT1-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10634700

rs_886048232

5 SubmittersRCV000320416 RCV000326942 RCV000379774 RCV001406806 RCV002257630 RCV004549661 RCV002292517

NM_004551.3(NDUFS3):c.783T>C (p.Pro261=)

SNV
Germline

Chr11:47584469

Conflicting classifications of pathogenicity

Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 1
Condition: not provided
NDUFS3-related disorder

Criteria Provided
Conflicting Classifications

CA5978099

rs_117981655

4 SubmittersRCV000284678 RCV000406732 RCV000939941 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

5 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

Wilms tumor 1
Nephrotic syndrome, type 4
Meacham syndrome
Drash syndrome
Frasier syndrome
Wilms tumor 1
11p partial monosomy syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA064344

rs_746353651

3 SubmittersRCV000270479 RCV000363180 RCV000332520 RCV000653775 RCV003165824

NM_024426.6(WT1):c.-106C>T

SNV
Germline

Chr11:32435466

Conflicting classifications of pathogenicity

Wilms tumor 1
Meacham syndrome
Nephrotic syndrome, type 4
Drash syndrome
WT1-related disorder

Criteria Provided
Conflicting Classifications

CA10638330

rs_867975105

3 SubmittersRCV000285278 RCV000309401 RCV000391926 RCV000988525 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

2 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
Condition: not provided
Mitochondrial complex 4 deficiency, nuclear type 4
Leigh syndrome

Criteria Provided
Conflicting Classifications

CA8393457

rs_139771078

4 SubmittersRCV000265637 RCV002061215 RCV003137923 RCV000324448

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

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

Criteria Provided
Conflicting Classifications

CA063974

rs_374441355

2 SubmittersRCV000311257 RCV000307685 RCV002056199 RCV000393433

NM_024426.6(WT1):c.695G>C (p.Ser232Thr)

SNV
Germline

Chr11:32428586

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA065489

rs_761913397

2 SubmittersRCV000323122 RCV000347410 RCV000382270 RCV001521008

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

Criteria Provided
Conflicting Classifications

CA065067

rs_753112302

4 SubmittersRCV000313309 RCV000354093 RCV000397632 RCV000653778 RCV004567850 RCV003324741

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
Andersen Tawil syndrome
Short QT syndrome type 3
SUDDEN INFANT DEATH SYNDROME
Cardiovascular phenotype
Andersen Tawil syndrome
Atrial fibrillation, familial, 9
Short QT syndrome type 3

Criteria Provided
Conflicting Classifications

CA8738692

rs_766143485

7 SubmittersRCV000308982 RCV000347359 RCV000406881 RCV000489623 RCV000795350 RCV001788198 RCV002348069 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
Leigh syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9043328

rs_375120743

2 SubmittersRCV000307576 RCV000405173 RCV000891844

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

2 SubmittersRCV000274190 RCV000319795 RCV003765901

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
Joubert syndrome 7
Meckel syndrome, type 5
COACH syndrome 3
Familial aplasia of the vermis
Meckel-Gruber syndrome
Familial aplasia of the vermis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8057138

rs_377402117

5 SubmittersRCV000284914 RCV000321256 RCV000385189 RCV002504091 RCV000820913 RCV001276306 RCV003278765

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

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

Criteria Provided
Conflicting Classifications

CA10644889

rs_7214082

2 SubmittersRCV000395029 RCV001778908 RCV000347246

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
not specified

Criteria Provided
Conflicting Classifications

CA7275497

rs_142124529

6 SubmittersRCV000269033 RCV001094469 RCV002261047 RCV003321583

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
Familial aplasia of the vermis
Meckel-Gruber syndrome
Familial aplasia of the vermis
Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3
Inborn genetic diseases
RPGRIP1L-related disorder

Criteria Provided
Conflicting Classifications

CA8057930

rs_144023021

6 SubmittersRCV000272277 RCV000308698 RCV000362256 RCV001828320 RCV001239253 RCV002487410 RCV004021665 RCV004537802

NM_015272.5(RPGRIP1L):c.251G>A (p.Arg84Gln)

SNV
Germline

Chr16:53692344

Conflicting classifications of pathogenicity

Joubert syndrome 7
Nephronophthisis 8
Meckel syndrome, type 5
Meckel syndrome, type 5
COACH syndrome 1
Joubert syndrome 7
Meckel-Gruber syndrome
Familial aplasia of the vermis
Condition: not provided
Familial aplasia of the vermis
RPGRIP1L-related disorder

Criteria Provided
Conflicting Classifications

CA8058159

rs_151212590

7 SubmittersRCV000310412 RCV000346684 RCV000398312 RCV000765298 RCV000464407 RCV001562186 RCV001828321 RCV004537804

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

2 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
Condition: not provided
Leigh syndrome

Criteria Provided
Conflicting Classifications

CA8402460

rs_370260574

2 SubmittersRCV000349796 RCV001636907 RCV000398956

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_000540.3(RYR1):c.13998+3G>A

SNV
Germline

Chr19:38572273

Conflicting classifications of pathogenicity

Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Neuromuscular disease, congenital, with uniform type 1 fiber
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

CA060696

rs_765404523

4 SubmittersRCV000279016 RCV000282567 RCV000336443 RCV000374610 RCV001323430 RCV002487452

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

3 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

Criteria Provided
Conflicting Classifications

CA10065852

rs_149772252

3 SubmittersRCV000359642 RCV001513049 RCV004549781

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

Knobloch syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10067545

rs_761528498

2 SubmittersRCV000387981 RCV002523186

NM_001379500.1(COL18A1):c.3682G>A (p.Val1228Ile)

SNV
Germline

Chr21:45510250

Conflicting classifications of pathogenicity

Knobloch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10068005

rs_750065884

2 SubmittersRCV000260062 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

3 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.1687G>A (p.Ala563Thr)

SNV
Germline

Chr21:45482807

Conflicting classifications of pathogenicity

Knobloch syndrome
Condition: not provided
Inborn genetic diseases
COL18A1-related disorder

Criteria Provided
Conflicting Classifications

CA10066510

rs_201476017

5 SubmittersRCV000340898 RCV001349865 RCV002523183 RCV004549789

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

Criteria Provided
Conflicting Classifications

CA10066530

rs_559725056

3 SubmittersRCV000407209 RCV001460838 RCV004549790

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

Knobloch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10066732

rs_754862849

2 SubmittersRCV000395837 RCV002057768

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/Likely pathogenic

Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16042056

rs_63750058

4 SubmittersRCV000411532 RCV001861407 RCV002418232

NM_000251.3(MSH2):c.1276+16G>A

SNV
Germline

Chr2:47429957

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA027438

rs_368120695

5 SubmittersRCV000411558 RCV000421899 RCV000579646 RCV000587782 RCV002058853

NM_000251.3(MSH2):c.1510+11G>C

SNV
Germline

Chr2:47463165

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA029000

rs_370675562

6 SubmittersRCV000410661 RCV000442358 RCV000579684 RCV001356660 RCV003237837 RCV002058850

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
Hereditary cancer-predisposing syndrome
Condition: not provided
Malignant tumor of breast
not specified

Criteria Provided
Conflicting Classifications

CA073358

rs_730881822

6 SubmittersRCV000409841 RCV000583102 RCV001584107 RCV001355925 RCV002509378

NM_000179.3(MSH6):c.941G>A (p.Ser314Asn)

SNV
Germline

Chr2:47798924

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA073598

rs_760100983

5 SubmittersRCV000410264 RCV000576046 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

Criteria Provided
Conflicting Classifications

CA16042060

rs_1057517629

6 SubmittersRCV000409332 RCV000583965 RCV000616287 RCV002058852

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

SNV
Germline

Chr3:37008813

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16042068

rs_193922370

4 SubmittersRCV000410339 RCV000472090 RCV000568411 RCV000684811

NM_000249.4(MLH1):c.1219C>T (p.Gln407Ter)

SNV
Germline

Chr3:37025817

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16042072

rs_1057517541

12 SubmittersRCV000411311 RCV000486818 RCV000684819 RCV001731666 RCV001183269 RCV003995908

NM_004168.4(SDHA):c.-7A>C

SNV
Germline

Chr5:218349

Conflicting classifications of pathogenicity

Paragangliomas 5
not specified
Condition: not provided
Mitochondrial complex II deficiency, nuclear type 1
Paragangliomas 5
Leigh syndrome
Mitochondrial complex II deficiency, nuclear type 1
Hereditary pheochromocytoma-paraganglioma
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA3172666

rs_751633537

14 SubmittersRCV000411889 RCV000425129 RCV000756629 RCV000649475 RCV001151933 RCV001151931 RCV001151932 RCV002255377

NM_004168.4(SDHA):c.1055G>A (p.Arg352Gln)

SNV
Germline

Chr5:233636

Conflicting classifications of pathogenicity

Paragangliomas 5
Mitochondrial complex II deficiency, nuclear type 1
Paragangliomas 5
Condition: not provided
Hereditary cancer-predisposing syndrome
Mitochondrial complex II deficiency, nuclear type 1
Dilated cardiomyopathy 1GG
Paragangliomas 5
Leigh syndrome
Hereditary pheochromocytoma-paraganglioma
Leigh syndrome
Mitochondrial complex II deficiency, nuclear type 1
Dilated cardiomyopathy 1GG
Mitochondrial complex II deficiency, nuclear type 1
Dilated cardiomyopathy 1GG
Paragangliomas 5

Criteria Provided
Conflicting Classifications

CA3173073

rs_199844384

11 SubmittersRCV000411606 RCV000463749 RCV000498298 RCV000563279 RCV000765832 RCV001153526 RCV001153527 RCV001153528 RCV003475997 RCV003483608

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

Criteria Provided
Multiple Submitters
No Conflicts

CA1555464

rs_149095705

4 SubmittersRCV000413992 RCV003233631 RCV004559047

NM_000179.3(MSH6):c.3449T>A (p.Leu1150Ter)

SNV
Germline

Chr2:47804920

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16042488

rs_1057517763

6 SubmittersRCV000413022 RCV000527691 RCV000575337 RCV003449031 RCV003470357

NM_003172.4(SURF1):c.751+5G>A

SNV
Germline

Chr9:133352441

Conflicting classifications of pathogenicity

Condition: not provided
Muscle weakness
Abnormal pyramidal sign
Cerebellar ataxia
Dysarthria
Leigh syndrome
Mitochondrial complex IV deficiency, nuclear type 1

Criteria Provided
Conflicting Classifications

CA16042683

rs_781934508

4 SubmittersRCV000413105 RCV000626843 RCV002523941 RCV002283477

NM_007103.4(NDUFV1):c.1162+4A>C

SNV
Germline

Chr11:67611982

Pathogenic/Likely pathogenic

Mitochondrial complex 1 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_000219.6(KCNE1):c.173C>T (p.Thr58Ile)

SNV
Germline

Chr21:34449462

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Primary dilated cardiomyopathy
not specified
SUDDEN INFANT DEATH SYNDROME
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA16043161

rs_747321794

6 SubmittersRCV000414735 RCV000539512 RCV000852543 RCV001002520 RCV001788209 RCV003372698

NM_000377.3(WAS):c.777+1G>A

SNV
Germline

ChrX:48688097

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16043277

rs_1057517845

6 SubmittersRCV000413782 RCV000461952 RCV003137992 RCV004022160 RCV001290558

NM_000377.3(WAS):c.559+5G>A

SNV
Germline

ChrX:48686139

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16043320

rs_886039451

4 SubmittersRCV000413138 RCV001390443 RCV001810445 RCV001810446

NC_012920.1(MT-ND6):m.14598T>C

SNV
Germline

ChrMT:14598

Conflicting classifications of pathogenicity

Parkinsonian disorder
Blindness
Leigh syndrome

Criteria Provided
Conflicting Classifications

CA16043602

rs_1057518882

2 SubmittersRCV000415203 RCV000855133

NM_004958.4(MTOR):c.4447T>C (p.Cys1483Arg)

SNV
Germline/somatic

Chr1:11157174

Pathogenic

Breast neoplasm
Glioblastoma
Papillary renal cell carcinoma type 1
Hemimegalencephaly
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes

Reviewed By Expert Panel

CA16602264

rs_1057519914

3 SubmittersRCV000426008 RCV000442035 RCV000431432 RCV000494705 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
Colorectal cancer, hereditary nonpolyposis, type 6
Loeys-Dietz syndrome 2
Malignant tumor of esophagus
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided
TGFBR2-related disorder

Criteria Provided
Conflicting Classifications

CA045395

rs_761991787

10 SubmittersRCV000415648 RCV000415679 RCV000781901 RCV000765723 RCV000809777 RCV001310482 RCV003902462

NM_022552.5(DNMT3A):c.2645G>A (p.Arg882His)

SNV
Germline/somatic

Chr2:25234373

Pathogenic/Likely pathogenic

Lung adenocarcinoma
Acute myeloid leukemia
Tatton-Brown-Rahman overgrowth syndrome
Myelodysplastic syndrome
Inborn genetic diseases
Condition: not provided
Clonal Cytopenia of Undetermined Significance
Abnormality of the nervous system
not specified
EBV-positive nodal T- and NK-cell lymphoma
Intellectual disability
DNMT3A-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA1555488

rs_147001633

16 SubmittersRCV000418424 RCV000430182 RCV000524775 RCV000437399 RCV000623601 RCV000485343 RCV003153242 RCV001814155 RCV002248654 RCV004559051 RCV004017608 RCV004545768

NM_022552.5(DNMT3A):c.2644C>T (p.Arg882Cys)

SNV
Germline/somatic

Chr2:25234374

Pathogenic

Myelodysplastic syndrome
Acute myeloid leukemia
Lung adenocarcinoma
Tatton-Brown-Rahman overgrowth syndrome
Condition: not provided
Inborn genetic diseases
Neurodevelopmental disorder
EBV-positive nodal T- and NK-cell lymphoma

Criteria Provided
Multiple Submitters
No Conflicts

CA1555491

rs_377577594

11 SubmittersRCV000422474 RCV000429128 RCV000439787 RCV000590987 RCV001552894 RCV001267371 RCV001374980 RCV004559052

NM_022552.5(DNMT3A):c.2644C>A (p.Arg882Ser)

SNV
Germline/somatic

Chr2:25234374

Conflicting classifications of pathogenicity

Acute myeloid leukemia
Condition: not provided
Tatton-Brown-Rahman overgrowth syndrome

Criteria Provided
Conflicting Classifications

CA16602367

rs_377577594

3 SubmittersRCV000438614 RCV001782899 RCV003766178

NM_006218.4(PIK3CA):c.263G>A (p.Arg88Gln)

SNV
Germline/somatic

Chr3:179199088

Pathogenic

Gastric adenocarcinoma
Squamous cell carcinoma of the head and neck
Breast neoplasm
Malignant neoplasm of body of uterus
Neoplasm of the large intestine
Glioblastoma
Prostate adenocarcinoma
Brainstem glioma
Uterine carcinosarcoma
Transitional cell carcinoma of the bladder
Neoplasm of ovary
Cowden syndrome
Condition: not provided
PIK3CA related overgrowth syndrome
Abnormal cerebral morphology
Cowden syndrome 5
Megalencephaly-capillary malformation-polymicrogyria syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16602516

rs_121913287

8 SubmittersRCV000423359 RCV000422647 RCV000418599 RCV000423992 RCV000429274 RCV000429870 RCV000434047 RCV000439879 RCV000443055 RCV000440543 RCV000785354 RCV001224952 RCV001562650 RCV002274026 RCV002275002 RCV003995942 RCV003225067

NM_006218.4(PIK3CA):c.1035T>A (p.Asn345Lys)

SNV
Germline/somatic

Chr3:179203765

Pathogenic

Adenoid cystic carcinoma
Uterine carcinosarcoma
Neoplasm of the large intestine
Glioblastoma
Gastric adenocarcinoma
Breast neoplasm
Prostate adenocarcinoma
Lung adenocarcinoma
Squamous cell carcinoma of the head and neck
Malignant neoplasm of body of uterus
Abnormal cardiovascular system morphology
Condition: not provided
PIK3CA related overgrowth syndrome
13 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA16602517

rs_121913284

5 SubmittersRCV000418844 RCV000425343 RCV000424744 RCV000426096 RCV000436059 RCV000434766 RCV000442207 RCV000442343 RCV000435436 RCV000436776 RCV001327959 RCV001172158 RCV003458198 RCV002502454

NM_004958.4(MTOR):c.6644C>A (p.Ser2215Tyr)

SNV
Germline/somatic

Chr1:11124516

Pathogenic

Papillary renal cell carcinoma type 1
Neoplasm of the large intestine
Malignant melanoma of skin
Papillary renal cell carcinoma, sporadic
Malignant neoplasm of body of uterus
Glioblastoma
Neoplasm of uterine cervix
Renal carcinoma
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

3 SubmittersRCV000420146 RCV000418200 RCV000424789 RCV000431294 RCV000428450 RCV000435047 RCV000437777 RCV000441543 RCV000477715 RCV001836814

NM_004958.4(MTOR):c.4379T>C (p.Leu1460Pro)

SNV
Germline/somatic

Chr1:11157242

Pathogenic

Renal carcinoma
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 SubmittersRCV000422999 RCV000477729 RCV001836815

NM_004958.4(MTOR):c.4448G>A (p.Cys1483Tyr)

SNV
Germline/somatic

Chr1:11157173

Pathogenic

Breast neoplasm
Papillary renal cell carcinoma type 1
Glioblastoma
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
CEBALID syndrome
Condition: not provided
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome

Reviewed By Expert Panel

CA16602888

rs_786205165

5 SubmittersRCV000422764 RCV000433466 RCV000441728 RCV001836816 RCV001260505 RCV001861478 RCV003992287

NM_006218.4(PIK3CA):c.1357G>A (p.Glu453Lys)

SNV
Germline/somatic

Chr3:179210291

Pathogenic

Gastric adenocarcinoma
Glioblastoma
Neoplasm of brain
Squamous cell carcinoma of the head and neck
Hepatocellular carcinoma
Malignant neoplasm of body of uterus
Breast neoplasm
Squamous cell lung carcinoma
Lung adenocarcinoma
Transitional cell carcinoma of the bladder
Neoplasm of ovary
Megalencephaly-capillary malformation-polymicrogyria syndrome
Abnormal cardiovascular system morphology
CLOVES syndrome
Condition: not provided
Cowden syndrome
PIK3CA-related disorder
PIK3CA related overgrowth syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16602904

rs_1057519925

12 SubmittersRCV000422944 RCV000425038 RCV000434215 RCV000440626 RCV000442682 RCV000443243 RCV000423945 RCV000430361 RCV000433137 RCV000435327 RCV000785580 RCV000991209 RCV001327961 RCV001526693 RCV001775789 RCV001861479 RCV002244865 RCV002472374

NM_006218.4(PIK3CA):c.2176G>A (p.Glu726Lys)

SNV
Germline/somatic

Chr3:179221146

Pathogenic

Lung adenocarcinoma
Neoplasm of the large intestine
Breast neoplasm
Squamous cell lung carcinoma
Squamous cell carcinoma of the head and neck
Neoplasm of uterine cervix
Condition: not provided
Transitional cell carcinoma of the bladder
Brainstem glioma
Inborn genetic diseases
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

11 SubmittersRCV000424090 RCV000419986 RCV000423869 RCV000429813 RCV000431306 RCV000440466 RCV000484330 RCV000437047 RCV000441124 RCV000624735 RCV001836817 RCV001851018 RCV003233633 RCV003152707

NM_006218.4(PIK3CA):c.241G>A (p.Glu81Lys)

SNV
Germline/somatic

Chr3:179199066

Pathogenic

Malignant neoplasm of body of uterus
Neoplasm of uterine cervix
Squamous cell carcinoma of the head and neck
Papillary renal cell carcinoma type 1
Lung adenocarcinoma
Neoplasm of the large intestine
Medulloblastoma
Glioblastoma
Breast neoplasm
CLOVES syndrome
Megalencephaly-capillary malformation-polymicrogyria syndrome
Condition: not provided
Abnormal cardiovascular system morphology
PIK3CA related overgrowth syndrome
Cowden syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16602912

rs_1057519929

8 SubmittersRCV000419439 RCV000418157 RCV000420013 RCV000430702 RCV000438199 RCV000438786 RCV000426861 RCV000431022 RCV000436699 RCV001526599 RCV001542570 RCV001837893 RCV001327958 RCV003458199 RCV002524695

NM_006218.4(PIK3CA):c.113G>A (p.Arg38His)

SNV
Germline/somatic

Chr3:179198938

Likely pathogenic

Glioblastoma
Malignant neoplasm of body of uterus
Neoplasm of uterine cervix
Squamous cell lung carcinoma
Neoplasm of the large intestine
Gastric adenocarcinoma
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes

Criteria Provided
Single Submitter

CA2710498

rs_772110575

2 SubmittersRCV000418734 RCV000424742 RCV000425403 RCV000431951 RCV000436118 RCV000443605 RCV003993951

NM_006218.4(PIK3CA):c.1030G>A (p.Val344Met)

SNV
Germline/somatic

Chr3:179203760

Pathogenic

Breast neoplasm
Neoplasm of uterine cervix
Squamous cell carcinoma of the head and neck
Glioblastoma
Malignant melanoma of skin
Non-Hodgkin lymphoma
Malignant neoplasm of body of uterus
Condition: not provided
Neoplasm of the large intestine
Cowden syndrome
Cowden syndrome 5
Megalencephaly, autosomal dominant
Intestinal duplication
Hypertelorism
Diaphragmatic eventration
Abnormality of the hairline
PIK3CA related overgrowth syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16602930

rs_1057519942

9 SubmittersRCV000423160 RCV000427369 RCV000433868 RCV000433184 RCV000438004 RCV000443225 RCV000444028 RCV000485942 RCV000443321 RCV000631216 RCV000767535 RCV000852337 RCV003985084

NC_012920.1(MT-ND1):m.4132G>A

SNV
Germline

ChrMT:4132

Conflicting classifications of pathogenicity

Condition: not provided
Leigh syndrome

Criteria Provided
Conflicting Classifications

CA16603348

rs_1057520201

2 SubmittersRCV000426885 RCV000853737

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
Condition: not provided
NDUFS1-related disorder

Criteria Provided
Conflicting Classifications

CA2070717

rs_148544177

4 SubmittersRCV000419653 RCV001138898 RCV001138899 RCV002061445 RCV003950361

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16604118

rs_1057521059

5 SubmittersRCV000432529 RCV001329213 RCV002285017

NM_001079866.2(BCS1L):c.171C>T (p.Asp57=)

SNV
Germline

Chr2:218661158

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2109614

rs_756932413

4 SubmittersRCV000432338 RCV001140855 RCV001140854 RCV001140856 RCV001484726 RCV004539801

NM_000251.3(MSH2):c.2277A>G (p.Gly759=)

SNV
Germline

Chr2:47478338

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16604163

rs_1057520316

5 SubmittersRCV000427595 RCV000570352 RCV003995967 RCV000467973

NM_000179.3(MSH6):c.-12C>G

SNV
Germline

Chr2:47783222

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA067463

rs_766407370

5 SubmittersRCV000443454 RCV000580863 RCV003996067

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
Condition: not provided
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA039993

rs_751195930

5 SubmittersRCV000553928 RCV000564734 RCV001712362 RCV001139362

NM_000179.3(MSH6):c.628-7C>T

SNV
Germline

Chr2:47798604

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA073257

rs_373129248

6 SubmittersRCV000444664 RCV000589714 RCV001082338 RCV001525063 RCV004000439 RCV004533051

NM_000251.3(MSH2):c.2458+4T>C

SNV
Germline

Chr2:47478523

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16604275

rs_1038735071

6 SubmittersRCV000431124 RCV000574853 RCV000630059 RCV001712259 RCV004000450

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

Criteria Provided
Conflicting Classifications

CA2109755

rs_148302981

4 SubmittersRCV000438295 RCV001138378 RCV001138379 RCV001138380 RCV002521706 RCV004539845

NM_000251.3(MSH2):c.211+8C>T

SNV
Germline

Chr2:47403410

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA034009

rs_267607916

10 SubmittersRCV000427874 RCV000579968 RCV000759110 RCV000663062 RCV001085835 RCV004539773

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

Criteria Provided
Conflicting Classifications

CA16604543

rs_920449426

5 SubmittersRCV000424515 RCV000557995 RCV001013070 RCV003996064

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

Criteria Provided
Conflicting Classifications

CA031127

rs_145535636

7 SubmittersRCV000430377 RCV000476999 RCV000572236 RCV001498345 RCV004000532

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_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
SETD2-related disorder
Inborn genetic diseases
Congenital cerebellar hypoplasia
SETD2 associated neurodevelopmental disorder with multiple congenital anomalies
Rabin-Pappas syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16604601

rs_1057523157

14 SubmittersRCV000426759 RCV000779643 RCV000853394 RCV001267684 RCV001267453 RCV001258009 RCV004554776 RCV002467447

NM_001378615.1(CC2D2A):c.3135G>A (p.Val1045=)

SNV
Germline

Chr4:15563475

Conflicting classifications of pathogenicity

Condition: not provided
COACH syndrome 1
Joubert syndrome 9
Meckel syndrome, type 6
Familial aplasia of the vermis
Meckel-Gruber syndrome

Criteria Provided
Conflicting Classifications

CA2864082

rs_371608031

3 SubmittersRCV000442925 RCV000765760 RCV001402263

NM_002495.4(NDUFS4):c.150A>G (p.Thr50=)

SNV
Germline

Chr5:53603503

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3264190

rs_142368721

3 SubmittersRCV001157095 RCV001157096 RCV000906096

NM_000108.5(DLD):c.321A>G (p.Ala107=)

SNV
Germline

Chr7:107903531

Conflicting classifications of pathogenicity

Pyruvate dehydrogenase E3 deficiency
Leigh syndrome
Pyruvate dehydrogenase complex deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4434418

rs_138398782

4 SubmittersRCV000898845 RCV001160216 RCV001163571 RCV001703709

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
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA049358

rs_766373982

6 SubmittersRCV000425644 RCV001211500 RCV002258890 RCV004000433

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
Paragangliomas 5
Leigh syndrome
Hereditary pheochromocytoma-paraganglioma
Mitochondrial complex II deficiency, nuclear type 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA3173017

rs_201461936

4 SubmittersRCV000440704 RCV000662985 RCV001157730 RCV001157731 RCV001157732 RCV002256236

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

2 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
Mitochondrial complex I deficiency, nuclear type 1
Leigh syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6143092

rs_199963966

3 SubmittersRCV000444487 RCV001105992 RCV001105991 RCV002062380

NM_007103.4(NDUFV1):c.831C>T (p.Asn277=)

SNV
Germline

Chr11:67611125

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6143295

rs_139299777

3 SubmittersRCV000917470 RCV001106099 RCV001106100

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
Condition: not provided
Mitochondrial complex I deficiency, nuclear type 1
Leigh syndrome
NDUFS8-related disorder

Criteria Provided
Conflicting Classifications

CA6146432

rs_144125742

8 SubmittersRCV000431887 RCV000676967 RCV001111479 RCV001111480 RCV003912624

NM_000540.3(RYR1):c.7835+1G>A

SNV
Germline

Chr19:38502728

Likely pathogenic

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

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
Malignant hyperthermia, susceptibility to, 1
Congenital myopathy with fiber type disproportion
King Denborough syndrome
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
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

4 SubmittersRCV001125643 RCV001125644 RCV001718821 RCV003950347

NM_024407.5(NDUFS7):c.138G>A (p.Leu46=)

SNV
Germline

Chr19:1388848

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9043125

rs_147710123

3 SubmittersRCV001127213 RCV001123144 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

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

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 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA030766

rs_372189599

7 SubmittersRCV000470314 RCV000491232 RCV003153620 RCV003329284

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
Lynch syndrome
not specified

Criteria Provided
Conflicting Classifications

CA038704

rs_774132884

6 SubmittersRCV000472699 RCV000572837 RCV001764409 RCV004000783 RCV003226296

NM_000251.3(MSH2):c.589A>C (p.Lys197Gln)

SNV
Germline

Chr2:47410316

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA039407

rs_778573140

6 SubmittersRCV000458204 RCV000566582 RCV000780450 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
not specified
Condition: not provided
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA040214

rs_138857091

9 SubmittersRCV000466771 RCV000570120 RCV001821275 RCV001591088 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

5 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

Criteria Provided
Conflicting Classifications

CA16610792

rs_1060501992

4 SubmittersRCV000473169 RCV000571885 RCV001526843 RCV004000772

NM_000251.3(MSH2):c.715C>G (p.Gln239Glu)

SNV
Germline

Chr2:47412483

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16610793

rs_63750488

7 SubmittersRCV000456715 RCV002291632 RCV001026093 RCV001843521 RCV004000794

NM_000251.3(MSH2):c.759G>A (p.Met253Ile)

SNV
Germline

Chr2:47412527

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16610795

rs_1060502021

9 SubmittersRCV000467943 RCV000568397 RCV001171949 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
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA028501

rs_544265737

6 SubmittersRCV000463668 RCV000561959 RCV001753886 RCV004000788 RCV004568018

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

Criteria Provided
Conflicting Classifications

CA028775

rs_376990143

5 SubmittersRCV000458047 RCV000573378 RCV003463907

NM_000251.3(MSH2):c.1595T>C (p.Val532Ala)

SNV
Germline

Chr2:47466742

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA029661

rs_754778750

4 SubmittersRCV000572859 RCV000791418 RCV000986674

NM_000251.3(MSH2):c.1861C>G (p.Arg621Gly)

SNV
Germline

Chr2:47475126

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA031770

rs_63750508

5 SubmittersRCV000465743 RCV000483159 RCV000561447 RCV001192651 RCV003449133

NM_000251.3(MSH2):c.2281G>A (p.Gly761Arg)

SNV
Germline

Chr2:47478342

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_000179.3(MSH6):c.104C>T (p.Ala35Val)

SNV
Germline

Chr2:47783337

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA067076

rs_776547943

7 SubmittersRCV000461408 RCV000573037 RCV000480657 RCV000765675 RCV001192488 RCV003463931

NM_000179.3(MSH6):c.115G>C (p.Gly39Arg)

SNV
Germline

Chr2:47783348

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA067226

rs_751838296

7 SubmittersRCV000459919 RCV000481267 RCV000567789 RCV000663030 RCV001721501

NM_000179.3(MSH6):c.188C>G (p.Ser63Cys)

SNV
Germline

Chr2:47783421

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16610836

rs_587779920

7 SubmittersRCV000459237 RCV000761153 RCV000572922 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

Criteria Provided
Multiple Submitters
No Conflicts

CA16610843

rs_1060502001

3 SubmittersRCV000467909 RCV004017628 RCV004022693

NM_000251.3(MSH2):c.2594T>C (p.Ile865Thr)

SNV
Germline

Chr2:47480831

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA036766

rs_549759248

5 SubmittersRCV000580161 RCV000460192 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
Lynch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA037887

rs_749545338

5 SubmittersRCV000465504 RCV000774555 RCV004000782 RCV003129863

NM_000251.3(MSH2):c.793-10T>G

SNV
Germline

Chr2:47414259

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA16610848

rs_1060502016

4 SubmittersRCV000464809 RCV001525043 RCV003225726 RCV003492058

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

Criteria Provided
Conflicting Classifications

CA16610852

rs_1046304919

7 SubmittersRCV000491454 RCV000521132 RCV001082030 RCV001355486 RCV004002173

NM_000251.3(MSH2):c.943-1G>T

SNV
Germline

Chr2:47416295

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16610853

rs_12476364

8 SubmittersRCV000468897 RCV000491423 RCV000985819 RCV001194032 RCV004000776 RCV003449129

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

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

Criteria Provided
Conflicting Classifications

CA16610859

rs_753237286

8 SubmittersRCV000457800 RCV000575104 RCV000663211 RCV000852299 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

4 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

Criteria Provided
Conflicting Classifications

CA027158

rs_61756465

4 SubmittersRCV000473029 RCV001535616 RCV002329043 RCV003463908

NM_000179.3(MSH6):c.743G>C (p.Arg248Pro)

SNV
Germline

Chr2:47798726

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

CA073426

rs_764870249

8 SubmittersRCV000562563 RCV000476123 RCV000587170 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 cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA073528

rs_751309721

7 SubmittersRCV000568053 RCV000985853 RCV000473462 RCV001821283 RCV004001830

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

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

Criteria Provided
Conflicting Classifications

CA067350

rs_768740986

5 SubmittersRCV000520334 RCV000460255 RCV000567415 RCV004000828

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_000251.3(MSH2):c.2320A>G (p.Ile774Val)

SNV
Germline

Chr2:47478381

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16610892

rs_775464903

6 SubmittersRCV000468999 RCV000492021 RCV001270006 RCV003168800 RCV003463906 RCV004000779

NM_000179.3(MSH6):c.1805C>A (p.Ser602Ter)

SNV
Germline

Chr2:47799788

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16610899

rs_730881816

4 SubmittersRCV001192458 RCV002230410 RCV003139659 RCV003449147

NM_000179.3(MSH6):c.2056G>T (p.Gly686Cys)

SNV
Germline

Chr2:47800039

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16610900

rs_1060502934

6 SubmittersRCV000460149 RCV000775722 RCV001576673 RCV001797726 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
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA067740

rs_758699749

5 SubmittersRCV000776440 RCV002508935 RCV002230121 RCV003446065

NM_000179.3(MSH6):c.2603T>C (p.Met868Thr)

SNV
Germline

Chr2:47800586

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA069266

rs_780280765

6 SubmittersRCV000771517 RCV000464988 RCV001798840 RCV002289613 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

Criteria Provided
Conflicting Classifications

CA069657

rs_772978164

6 SubmittersRCV000460082 RCV000580547 RCV003463940 RCV004001849 RCV004525934

NM_000179.3(MSH6):c.1132A>C (p.Arg378=)

SNV
Germline

Chr2:47799115

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA067192

rs_781572949

8 SubmittersRCV000485270 RCV000568836 RCV001087055 RCV001290548 RCV004002159

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.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

9 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
Lynch syndrome 5
Malignant tumor of breast
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA070372

rs_764113705

10 SubmittersRCV000464681 RCV000483362 RCV000491614 RCV000662364 RCV001354888 RCV004568054 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

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

Criteria Provided
Conflicting Classifications

CA072360

rs_759092293

7 SubmittersRCV000463911 RCV000485411 RCV000566983 RCV000662834 RCV003463934

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

SNV
Germline

Chr2:47799555

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16610964

rs_587779215

6 SubmittersRCV000457937 RCV000491224 RCV000523866 RCV000791425 RCV003449146 RCV003463929

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

Criteria Provided
Conflicting Classifications

CA16610971

rs_17217716

5 SubmittersRCV000460417 RCV000564460 RCV001798836 RCV004568016

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16610973

rs_1060502926

3 SubmittersRCV000475044 RCV002451123 RCV003449150

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
Mismatch repair cancer syndrome 3
Lynch syndrome 5
Endometrial carcinoma
Condition: not provided
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA16610976

rs_876660882

9 SubmittersRCV000457877 RCV000490961 RCV002496783 RCV003148746 RCV003463944 RCV004001861

NM_000179.3(MSH6):c.3988C>G (p.Leu1330Val)

SNV
Germline

Chr2:47806638

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16610987

rs_768944975

6 SubmittersRCV000775745 RCV000466998 RCV001555679 RCV003470467 RCV004001844

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
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA068368

rs_377356882

7 SubmittersRCV000470045 RCV000491796 RCV001565312 RCV003463933 RCV004001833

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

Criteria Provided
Conflicting Classifications

CA038750

rs_773125415

7 SubmittersRCV000458857 RCV000759835 RCV000568213 RCV003449128 RCV004000775

NM_000251.3(MSH2):c.726C>G (p.Asn242Lys)

SNV
Germline

Chr2:47412494

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16611006

rs_748427458

6 SubmittersRCV000457050 RCV000519119 RCV000775712 RCV004568017

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
Mismatch repair cancer syndrome 3
Lynch syndrome
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16611011

rs_374230313

7 SubmittersRCV000469257 RCV000566681 RCV003168831 RCV003449149 RCV003483627 RCV004001837

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.2963G>C (p.Arg988Pro)

SNV
Germline

Chr2:47800946

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Hereditary cancer-predisposing syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA069882

rs_115386788

4 SubmittersRCV002230416 RCV004001842 RCV002436447 RCV004568052

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.1510+2T>C

SNV
Germline

Chr2:47463156

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16611029

rs_1060502023

6 SubmittersRCV000491134 RCV001543671 RCV001782943 RCV002230366

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

3 SubmittersRCV000467112 RCV001013110 RCV004000784

NM_000179.3(MSH6):c.3364C>G (p.Gln1122Glu)

SNV
Germline

Chr2:47803611

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16611045

rs_1060502892

7 SubmittersRCV000467819 RCV000773186 RCV000662840 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
not specified
Lynch syndrome 1
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA035142

rs_372383829

7 SubmittersRCV000464961 RCV000573097 RCV000781562 RCV001788225 RCV003228932 RCV004000793

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

Criteria Provided
Conflicting Classifications

CA16611051

rs_878853811

10 SubmittersRCV000473566 RCV000761089 RCV001015184 RCV001284505 RCV003315429

NM_000251.3(MSH2):c.2459-1G>A

SNV
Germline/somatic

Chr2:47480695

Pathogenic/Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16611057

rs_1060501991

4 SubmittersRCV000465186 RCV001201394 RCV003449127 RCV002446811

NM_000179.3(MSH6):c.3529C>G (p.Leu1177Val)

SNV
Germline

Chr2:47805000

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA071122

rs_748398941

8 SubmittersRCV000521217 RCV000469909 RCV000568727 RCV000663017 RCV003463928 RCV004001826

NM_000179.3(MSH6):c.197C>T (p.Pro66Leu)

SNV
Germline

Chr2:47783430

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA16611077

rs_730881812

5 SubmittersRCV000470612 RCV000776536 RCV000485693 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
Condition: not provided
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA16611088

rs_756216566

6 SubmittersRCV000473620 RCV000571258 RCV002307506 RCV004001847 RCV004568053

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

6 SubmittersRCV000471664 RCV000491045 RCV000600881 RCV001140444 RCV004002161

NM_000179.3(MSH6):c.2235T>G (p.Ile745Met)

SNV
Germline

Chr2:47800218

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA068645

rs_556339046

5 SubmittersRCV000473197 RCV000663137 RCV001014897

NM_000179.3(MSH6):c.2614A>G (p.Ile872Val)

SNV
Germline

Chr2:47800597

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA16611154

rs_1060502939

5 SubmittersRCV000759137 RCV000470821 RCV000491946 RCV004001855

NM_000179.3(MSH6):c.3586G>C (p.Glu1196Gln)

SNV
Germline

Chr2:47805647

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Mismatch repair cancer syndrome 3
Lynch syndrome 5
Endometrial carcinoma
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA071434

rs_75095286

10 SubmittersRCV000467878 RCV000587963 RCV000574327 RCV002496782 RCV003470469 RCV004001852

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

Criteria Provided
Conflicting Classifications

CA028235

rs_763189331

5 SubmittersRCV000587089 RCV001088444 RCV001190846 RCV004002034

NM_000249.4(MLH1):c.1667+4A>G

SNV
Germline

Chr3:37040298

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

CA16611233

rs_983986337

8 SubmittersRCV000464057 RCV000777682 RCV001354080 RCV004000655 RCV002254696

NM_000249.4(MLH1):c.1897-7C>T

SNV
Germline/somatic

Chr3:37048510

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colon cancer

Criteria Provided
Conflicting Classifications

CA031471

rs_373078652

7 SubmittersRCV000461885 RCV000759811 RCV000758581 RCV001189941 RCV001535615

NM_000249.4(MLH1):c.589-6T>G

SNV
Germline

Chr3:37012005

Conflicting classifications of pathogenicity

Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA037159

rs_781244266

5 SubmittersRCV000662708 RCV000467939 RCV001525125 RCV004000652

NM_000249.4(MLH1):c.779T>A (p.Leu260His)

SNV
Germline

Chr3:37014533

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

CA16611244

rs_63751283

6 SubmittersRCV000463982 RCV000561786 RCV000662376 RCV000484437 RCV004000658

NM_000249.4(MLH1):c.2020G>A (p.Glu674Lys)

SNV
Germline

Chr3:37048934

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Malignant tumor of breast
Hereditary cancer-predisposing syndrome
MLH1-related disorder
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA032265

rs_755577490

7 SubmittersRCV000456564 RCV001354280 RCV001189202 RCV003409613 RCV004022567 RCV004000665

NM_000249.4(MLH1):c.1457C>T (p.Ser486Phe)

SNV
Germline

Chr3:37028831

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Ovarian cancer
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA028856

rs_532873141

7 SubmittersRCV000460169 RCV000481335 RCV000574118 RCV003153588 RCV004000656

NM_000249.4(MLH1):c.652T>C (p.Ser218Pro)

SNV
Germline

Chr3:37012074

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA037512

rs_750650349

7 SubmittersRCV000475778 RCV000564654 RCV000987155 RCV001280631 RCV004000657

NM_004168.4(SDHA):c.1527G>A (p.Ser509=)

SNV
Germline

Chr5:240452

Conflicting classifications of pathogenicity

Paragangliomas 5
Mitochondrial complex II deficiency, nuclear type 1
Hereditary cancer-predisposing syndrome
Hereditary pheochromocytoma-paraganglioma
Mitochondrial complex II deficiency, nuclear type 1
Leigh syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3173266

rs_746453879

5 SubmittersRCV000473824 RCV000573305 RCV001152360 RCV001152358 RCV001152359 RCV003478054

NM_004168.4(SDHA):c.1014G>A (p.Ala338=)

SNV
Germline

Chr5:233595

Conflicting classifications of pathogenicity

Paragangliomas 5
Mitochondrial complex II deficiency, nuclear type 1
Hereditary cancer-predisposing syndrome
Hereditary pheochromocytoma-paraganglioma
Leigh syndrome
Condition: not provided
Mitochondrial complex II deficiency, nuclear type 1
SDHA-related disorder

Criteria Provided
Conflicting Classifications

CA3173065

rs_201341132

5 SubmittersRCV000456689 RCV000563364 RCV001152244 RCV001152246 RCV001310840 RCV001152245 RCV004535493

NM_004168.4(SDHA):c.955A>C (p.Ile319Leu)

SNV
Germline

Chr5:233536

Conflicting classifications of pathogenicity

Mitochondrial complex II deficiency, nuclear type 1
Paragangliomas 5
Hereditary cancer-predisposing syndrome
Leigh syndrome
Dilated cardiomyopathy 1GG
Mitochondrial complex II deficiency, nuclear type 1
Paragangliomas 5
not specified
Condition: not provided
Dilated cardiomyopathy 1GG

Criteria Provided
Conflicting Classifications

CA3173042

rs_377509915

10 SubmittersRCV000462816 RCV000565889 RCV000765829 RCV001821296 RCV002272249 RCV003476127

NM_004168.4(SDHA):c.1725G>A (p.Ala575=)

SNV
Germline

Chr5:251399

Conflicting classifications of pathogenicity

Paragangliomas 5
Mitochondrial complex II deficiency, nuclear type 1
Hereditary cancer-predisposing syndrome
Leigh syndrome
Hereditary pheochromocytoma-paraganglioma
Mitochondrial complex II deficiency, nuclear type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3173340

rs_758252610

4 SubmittersRCV000466412 RCV000561801 RCV001156240 RCV001156241 RCV001156242 RCV003478052

NM_004168.4(SDHA):c.5C>T (p.Ser2Leu)

SNV
Germline

Chr5:218360

Conflicting classifications of pathogenicity

Paragangliomas 5
Mitochondrial complex II deficiency, nuclear type 1
Hereditary cancer-predisposing syndrome
Mitochondrial complex II deficiency, nuclear type 1
Leigh syndrome
Hereditary pheochromocytoma-paraganglioma
Condition: not provided
Dilated cardiomyopathy 1GG

Criteria Provided
Conflicting Classifications

CA3172677

rs_780064103

7 SubmittersRCV000473246 RCV000569083 RCV001153198 RCV001153199 RCV001153200 RCV003225073 RCV004568122

NM_000535.7(PMS2):c.353+2T>C

SNV
Germline

Chr7:6003688

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

CA049344

rs_111466480

7 SubmittersRCV000468932 RCV001782956 RCV001020538 RCV003449154 RCV004001879

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
Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Mismatch repair cancer syndrome 1
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA045882

rs_760629688

6 SubmittersRCV000463007 RCV000573574 RCV000765955 RCV001821289 RCV004001875

NM_000535.7(PMS2):c.591C>T (p.Gly197=)

SNV
Germline

Chr7:5999222

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA050497

rs_748518694

6 SubmittersRCV000571978 RCV000471455 RCV003151778 RCV004001877

NM_000535.7(PMS2):c.538-2A>G

SNV
Germline

Chr7:5999277

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Gastric cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA050225

rs_758304323

12 SubmittersRCV000469599 RCV000663281 RCV000825602 RCV000775368 RCV001576762 RCV003168841

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

Criteria Provided
Conflicting Classifications

CA043920

rs_749826312

5 SubmittersRCV000464024 RCV000573656 RCV001597142 RCV004001872

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

Criteria Provided
Conflicting Classifications

CA16612262

rs_1060503135

3 SubmittersRCV002230436 RCV003449155 RCV004022861

NM_000535.7(PMS2):c.713G>A (p.Ser238Asn)

SNV
Germline

Chr7:5997416

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA16612276

rs_1060503111

6 SubmittersRCV000470673 RCV000569996 RCV000987844 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

Criteria Provided
Conflicting Classifications

CA16612281

rs_368608818

8 SubmittersRCV000462666 RCV000575513 RCV001672776 RCV001821290 RCV004001881

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
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA16612292

rs_977251189

6 SubmittersRCV000473006 RCV000485503 RCV000562693 RCV001356469 RCV004568064

NM_000535.7(PMS2):c.2192T>G (p.Leu731Ter)

SNV
Germline

Chr7:5978679

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA16612382

rs_1060503110

3 SubmittersRCV000477621 RCV000521108 RCV003449153

NM_000535.7(PMS2):c.1891C>T (p.Gln631Ter)

SNV
Germline

Chr7:5986874

Pathogenic

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA16612391

rs_1060503138

3 SubmittersRCV000679346 RCV002230130 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

Criteria Provided
Conflicting Classifications

CA045058

rs_751153838

5 SubmittersRCV000471818 RCV001012607 RCV003227761 RCV004001876

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

9 SubmittersRCV000477451 RCV000481770 RCV000776176 RCV002268089 RCV004001885

NM_024426.6(WT1):c.1182C>T (p.Arg394=)

SNV
Germline

Chr11:32396339

Conflicting classifications of pathogenicity

Drash syndrome
Frasier syndrome
Wilms tumor 1
11p partial monosomy syndrome
not specified
Meacham syndrome
Wilms tumor 1
Nephrotic syndrome, type 4
WT1-related disorder

Criteria Provided
Conflicting Classifications

CA064340

rs_147939483

4 SubmittersRCV000468188 RCV000516542 RCV001107193 RCV001104444 RCV001107194 RCV004551545

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
Wilms tumor 1
Nephrotic syndrome, type 4
Meacham syndrome

Criteria Provided
Conflicting Classifications

CA064029

rs_368486676

3 SubmittersRCV000459181 RCV001104524 RCV001104523 RCV001102607

NM_024426.6(WT1):c.785G>A (p.Gly262Asp)

SNV
Germline

Chr11:32428058

Conflicting classifications of pathogenicity

Drash syndrome
Frasier syndrome
Wilms tumor 1
11p partial monosomy syndrome
Meacham syndrome
Nephrotic syndrome, type 4
Wilms tumor 1
Hereditary cancer-predisposing syndrome
Condition: not provided
WT1-related disorder

Criteria Provided
Conflicting Classifications

CA065639

rs_372225738

5 SubmittersRCV000469273 RCV001107288 RCV001107289 RCV001107939 RCV002256254 RCV003313070 RCV004551518

NM_024426.6(WT1):c.1124G>A (p.Arg375His)

SNV
Germline

Chr11:32396397

Conflicting classifications of pathogenicity

Drash syndrome
Frasier syndrome
Wilms tumor 1
11p partial monosomy syndrome
Nephrotic syndrome, type 4
Wilms tumor 1
Meacham syndrome

Criteria Provided
Conflicting Classifications

CA064260

rs_554416372

2 SubmittersRCV000462501 RCV001107842 RCV001107843 RCV001107841

NM_024426.6(WT1):c.421C>T (p.Pro141Ser)

SNV
Germline

Chr11:32434940

Conflicting classifications of pathogenicity

Drash syndrome
11p partial monosomy syndrome
Wilms tumor 1
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

Malignant tumor of breast
Colorectal cancer, hereditary nonpolyposis, type 7
Condition: not provided
not specified
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA7275709

rs_61752722

9 SubmittersRCV001270153 RCV001119882 RCV001354157 RCV002268106 RCV002463679

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

4 SubmittersRCV000486209 RCV001237885 RCV003338604

NM_000251.3(MSH2):c.47A>C (p.Glu16Ala)

SNV
Germline

Chr2:47403238

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA038939

rs_745771647

6 SubmittersRCV000484013 RCV000540608 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
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA16617546

rs_730881760

5 SubmittersRCV000485060 RCV000552453 RCV000572631 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
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA16617547

rs_1064794928

5 SubmittersRCV000479166 RCV000569588 RCV001062881 RCV004003346

NM_000251.3(MSH2):c.100G>A (p.Val34Met)

SNV
Germline

Chr2:47403291

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA16617548

rs_1064793541

6 SubmittersRCV000484906 RCV001016981 RCV001037181 RCV004002277

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
Lynch syndrome
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA038774

rs_760851623

8 SubmittersRCV000588981 RCV000771216 RCV001051880 RCV004003339 RCV004535515

NM_000251.3(MSH2):c.743A>G (p.Lys248Arg)

SNV
Germline

Chr2:47412511

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA16617562

rs_1064794704

9 SubmittersRCV001046068 RCV000757471 RCV000775779 RCV001824799

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

7 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
Hereditary nonpolyposis colon cancer

Criteria Provided
Conflicting Classifications

CA16617570

rs_193922376

7 SubmittersRCV000479341 RCV000530947 RCV001019334 RCV003463979 RCV003387853

NM_000251.3(MSH2):c.1045C>A (p.Pro349Thr)

SNV
Germline

Chr2:47416398

Likely pathogenic

Condition: not provided
Endometrial carcinoma
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16617573

rs_267607939

4 SubmittersRCV000480250 RCV001355929 RCV003766712 RCV003485590

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

8 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 cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA027116

rs_751249745

6 SubmittersRCV000478467 RCV000567051 RCV000559869 RCV003463981 RCV004002270

NM_000251.3(MSH2):c.1315C>G (p.Pro439Ala)

SNV
Germline

Chr2:47445586

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA16617576

rs_786203116

6 SubmittersRCV000487340 RCV001010926 RCV001030709 RCV001851231 RCV004003373

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 nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA16617579

rs_1051194508

6 SubmittersRCV000485109 RCV000698504 RCV000572164 RCV004003319 RCV003470555

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

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA16617581

rs_1064795039

5 SubmittersRCV000480852 RCV000775781 RCV001359758 RCV003470567

NM_000251.3(MSH2):c.1729A>G (p.Ile577Val)

SNV
Germline

Chr2:47471032

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA030657

rs_774985655

6 SubmittersRCV000484349 RCV000581019 RCV000630236 RCV004003366

NM_000251.3(MSH2):c.1765G>A (p.Val589Ile)

SNV
Germline

Chr2:47475030

Conflicting classifications of pathogenicity

not specified
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA16617588

rs_1064793981

7 SubmittersRCV000479480 RCV000551068 RCV000581059 RCV000766532 RCV003470543 RCV004002307

NM_000251.3(MSH2):c.1807G>C (p.Asp603His)

SNV
Germline

Chr2:47475072

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA16617590

rs_63750657

6 SubmittersRCV000485623 RCV001187838 RCV002280119 RCV003758780

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
Lynch syndrome
not specified
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA16617598

rs_185356145

8 SubmittersRCV000479030 RCV000688258 RCV001013864 RCV004002300 RCV002230906 RCV003463995

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

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA16617601

rs_1064795116

6 SubmittersRCV000484269 RCV000527665 RCV000563540 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

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA16617611

rs_63750409

4 SubmittersRCV000485019 RCV000549838 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 5
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA16617616

rs_730881810

7 SubmittersRCV000482378 RCV000537973 RCV000565704 RCV003387854 RCV004002285

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
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA068115

rs_761033647

6 SubmittersRCV000482176 RCV000557696 RCV000560960 RCV004003399 RCV004568208

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

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA16617634

rs_1064795970

5 SubmittersRCV000481633 RCV001183212 RCV003758791 RCV004003386

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

Criteria Provided
Conflicting Classifications

CA067106

rs_771529531

7 SubmittersRCV000485837 RCV000582356 RCV000629703 RCV003464014 RCV004003341

NM_000179.3(MSH6):c.1078A>G (p.Ser360Gly)

SNV
Germline

Chr2:47799061

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA067126

rs_145994565

6 SubmittersRCV000629709 RCV000563224 RCV001704606 RCV004003316

NM_000179.3(MSH6):c.1633A>G (p.Lys545Glu)

SNV
Germline

Chr2:47799616

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Lynch syndrome 5
Endometrial carcinoma
Mismatch repair cancer syndrome 1
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA16617656

rs_1064793403

8 SubmittersRCV000479973 RCV000574287 RCV000545794 RCV000659891 RCV000765683 RCV004002268 RCV003470532

NM_000179.3(MSH6):c.1637A>G (p.Glu546Gly)

SNV
Germline

Chr2:47799620

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA067957

rs_373554374

5 SubmittersRCV000487153 RCV000582070 RCV000706852 RCV004002289

NM_000179.3(MSH6):c.1714C>T (p.Gln572Ter)

SNV
Germline

Chr2:47799697

Pathogenic

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA16617658

rs_1064795256

6 SubmittersRCV000487144 RCV001036388 RCV001643202 RCV002402404 RCV003449215

NM_000179.3(MSH6):c.1933G>T (p.Glu645Ter)

SNV
Germline

Chr2:47799916

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Endometrial carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA16617661

rs_1064795591

6 SubmittersRCV000483556 RCV000490938 RCV000685973 RCV003449220 RCV003464024

NM_000179.3(MSH6):c.2122G>T (p.Glu708Ter)

SNV
Germline

Chr2:47800105

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA16617667

rs_1064795960

3 SubmittersRCV000486081 RCV000491313 RCV003449238

NM_000179.3(MSH6):c.2195G>C (p.Arg732Pro)

SNV
Germline

Chr2:47800178

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA16617670

rs_749746725

5 SubmittersRCV000483131 RCV000571852 RCV001238127 RCV004003395

NM_000179.3(MSH6):c.2300C>G (p.Thr767Ser)

SNV
Germline

Chr2:47800283

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Mismatch repair cancer syndrome 1
Endometrial carcinoma
Lynch syndrome 5
Condition: not provided
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA068793

rs_587781462

10 SubmittersRCV000542142 RCV000580933 RCV000662407 RCV000765686 RCV001284514 RCV004002290 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
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA068796

rs_35946687

6 SubmittersRCV000481556 RCV001190572 RCV000822224 RCV003470572 RCV004003355

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.2753A>G (p.His918Arg)

SNV
Germline

Chr2:47800736

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA069591

rs_754948438

7 SubmittersRCV000480774 RCV000774604 RCV001071302 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
Lynch syndrome 5
Endometrial carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA16617684

rs_1064793671

5 SubmittersRCV000480127 RCV001381214 RCV002436530 RCV003449184 RCV003463990

NM_000179.3(MSH6):c.2989A>T (p.Lys997Ter)

SNV
Germline

Chr2:47800972

Pathogenic

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA16617688

rs_1064794943

4 SubmittersRCV000478571 RCV001037717 RCV002436544 RCV003449211

NM_000179.3(MSH6):c.3083C>G (p.Ser1028Ter)

SNV
Germline

Chr2:47801066

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA16617691

rs_876660853

4 SubmittersRCV000481140 RCV000491967 RCV000794243 RCV003449218

NM_000179.3(MSH6):c.3254C>T (p.Thr1085Ile)

SNV
Germline

Chr2:47803501

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA16617694

rs_761724581

5 SubmittersRCV000484206 RCV001019455 RCV001303106 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
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA070513

rs_780345806

5 SubmittersRCV000482150 RCV000570886 RCV000560746 RCV004003362

NM_000179.3(MSH6):c.3442G>A (p.Gly1148Ser)

SNV
Germline/somatic

Chr2:47804913

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA070946

rs_63750257

6 SubmittersRCV000478492 RCV000561997 RCV000758613 RCV000820952

NM_000179.3(MSH6):c.3524C>T (p.Thr1175Ile)

SNV
Germline

Chr2:47804995

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA071114

rs_369583604

7 SubmittersRCV000484936 RCV000573926 RCV000706792 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

4 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

9 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
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA16617724

rs_545466048

3 SubmittersRCV000479661 RCV001081841 RCV004002302

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_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
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA036814

rs_777971431

8 SubmittersRCV000484514 RCV000542526 RCV000574007 RCV003476160 RCV004526688 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

10 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
COACH syndrome 1
Joubert syndrome 9
Meckel syndrome, type 6
Familial aplasia of the vermis
Meckel-Gruber syndrome
CC2D2A-related disorder

Criteria Provided
Conflicting Classifications

CA2864250

rs_200427832

5 SubmittersRCV000726978 RCV000765762 RCV001081324 RCV004535520

NM_001378615.1(CC2D2A):c.4729G>A (p.Ala1577Thr)

SNV
Germline

Chr4:15601291

Conflicting classifications of pathogenicity

Condition: not provided
Familial aplasia of the vermis
Meckel-Gruber syndrome
Joubert syndrome 9
COACH syndrome 2
Retinitis pigmentosa 93
Meckel syndrome, type 6
Inborn genetic diseases
CC2D2A-related disorder

Criteria Provided
Conflicting Classifications

CA2864468

rs_199695154

6 SubmittersRCV000479727 RCV001053315 RCV002496867 RCV002525868 RCV004541523

NM_000535.7(PMS2):c.1765G>C (p.Asp589His)

SNV
Germline

Chr7:5987000

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome 4
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA16618498

rs_749727182

8 SubmittersRCV000483031 RCV000548259 RCV000561065 RCV001821390 RCV003470536 RCV004002274

NM_000535.7(PMS2):c.828C>A (p.Cys276Ter)

SNV
Germline

Chr7:5995609

Pathogenic

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA16618521

rs_757324104

4 SubmittersRCV000487083 RCV000818334 RCV002431407 RCV003449212

NM_000535.7(PMS2):c.655G>T (p.Gly219Ter)

SNV
Germline

Chr7:5999158

Pathogenic

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA16618526

rs_1064796190

5 SubmittersRCV000479716 RCV000629800 RCV002367652 RCV003449240

NM_000535.7(PMS2):c.248T>G (p.Leu83Ter)

SNV
Germline

Chr7:6003974

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

CA16618539

rs_1064794083

10 SubmittersRCV000484847 RCV000690271 RCV002466515 RCV001188863 RCV004002311

NM_000535.7(PMS2):c.163+1G>A

SNV
Germline

Chr7:6005891

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA16618542

rs_1064795705

5 SubmittersRCV000481277 RCV000569035 RCV003449226

NM_024426.6(WT1):c.1400G>A (p.Arg467Gln)

SNV
Germline

Chr11:32392019

Pathogenic/Likely pathogenic

Condition: not provided
Kidney disorder
8 conditions
Drash syndrome
Wilms tumor 1
11p partial monosomy syndrome
Frasier syndrome
WT1-related Wilms tumor
WT1-related disorder
Wilms tumor 1
Drash syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16619314

rs_121907903

9 SubmittersRCV000484903 RCV002294337 RCV002506163 RCV003766670 RCV003458440 RCV004551581 RCV003147478 RCV003225075

NM_000321.3(RB1):c.607+1G>A

SNV
Germline

Chr13:48349024

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Condition: not provided
Retinoblastoma

Criteria Provided
Multiple Submitters
No Conflicts

CA16619811

rs_587776789

7 SubmittersRCV000492670 RCV000786882 RCV000483814 RCV002525820

NM_015272.5(RPGRIP1L):c.1660C>A (p.Leu554Ile)

SNV
Germline

Chr16:53656511

Conflicting classifications of pathogenicity

COACH syndrome 1
Joubert syndrome 7
Meckel syndrome, type 5
Familial aplasia of the vermis
Meckel-Gruber syndrome
Condition: not provided
RPGRIP1L-related disorder

Criteria Provided
Conflicting Classifications

CA8057740

rs_79524027

4 SubmittersRCV000765296 RCV000862031 RCV001696865 RCV004535531

NM_000377.3(WAS):c.1453G>A (p.Asp485Asn)

SNV
Germline

ChrX:48689434

Pathogenic

Condition: not provided
Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia
Thrombocytopenia 1
Wiskott-Aldrich syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16621420

rs_1064793293

5 SubmittersRCV000482823 RCV000780796 RCV001038563

NM_000251.3(MSH2):c.1667T>G (p.Leu556Trp)

SNV
Germline

Chr2:47470970

Likely pathogenic

Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA346728044

rs_587779101

4 SubmittersRCV000490580 RCV001856915 RCV002404286

NM_000251.3(MSH2):c.1865C>A (p.Pro622Gln)

SNV
Germline

Chr2:47475130

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346728465

rs_28929483

3 SubmittersRCV000780453 RCV002413352 RCV003449268

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

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch-like syndrome
Mismatch repair cancer syndrome 3
Endometrial carcinoma
Lynch syndrome 5
Breast and/or ovarian cancer
Condition: not provided
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA071525

rs_769279475

10 SubmittersRCV001041513 RCV001020758 RCV001249983 RCV002475965 RCV003492074 RCV003235247 RCV004568605 RCV004003433

NM_000540.3(RYR1):c.4160+1G>A

SNV
Germline

Chr19:38473772

Likely pathogenic

Hypotonia
Malignant hyperthermia, susceptibility to, 1
Congenital myopathy with fiber type disproportion
King Denborough syndrome
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
RYR1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA405643333

rs_113460156

3 SubmittersRCV000490681 RCV002489200 RCV003757181

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
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346729068

rs_1114167883

7 SubmittersRCV000491082 RCV000529790 RCV000507775 RCV003449379

NM_000251.3(MSH2):c.391T>G (p.Phe131Val)

SNV
Germline

Chr2:47410118

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA038462

rs_755423698

4 SubmittersRCV000491136 RCV000810636 RCV004003473

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

2 SubmittersRCV000491309 RCV003449346

NM_000251.3(MSH2):c.509A>G (p.Gln170Arg)

SNV
Germline

Chr2:47410236

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346730701

rs_1114167865

6 SubmittersRCV000491118 RCV001053469 RCV001532970 RCV000985813 RCV004003472

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

Criteria Provided
Multiple Submitters
No Conflicts

CA346733020

rs_1114167845

3 SubmittersRCV000491147 RCV000693833 RCV003449366

NM_000251.3(MSH2):c.942+2T>A

SNV
Germline

Chr2:47414420

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346733028

rs_587779195

6 SubmittersRCV000491819 RCV001229248 RCV001800711 RCV003449349

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
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA027092

rs_376934727

7 SubmittersRCV000490918 RCV000704685 RCV001264478 RCV004003471 RCV004527600

NM_000251.3(MSH2):c.1510+1G>A

SNV
Germline/somatic

Chr2:47463155

Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome
Lynch-like syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346727215

rs_1114167852

4 SubmittersRCV000491735 RCV000780446 RCV001249922 RCV003449369

NM_000251.3(MSH2):c.1684G>T (p.Glu562Ter)

SNV
Germline

Chr2:47470987

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Gastric cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA346728082

rs_1114167816

4 SubmittersRCV000491179 RCV003449344 RCV003159593

NM_000251.3(MSH2):c.1757C>G (p.Ser586Ter)

SNV
Germline

Chr2:47471060

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346728237

rs_1114167854

3 SubmittersRCV000491644 RCV000657671 RCV003449370

NM_000251.3(MSH2):c.1901T>G (p.Leu634Ter)

SNV
Germline

Chr2:47475166

Pathogenic

Hereditary cancer-predisposing syndrome
Carcinoma of colon
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346728596

rs_1114167811

3 SubmittersRCV000490923 RCV000502231 RCV003449341

NM_000251.3(MSH2):c.1933C>T (p.Gln645Ter)

SNV
Germline

Chr2:47475198

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346728706

rs_267607982

4 SubmittersRCV000491204 RCV000520348 RCV001237307 RCV003449338

NM_000251.3(MSH2):c.2041C>T (p.Gln681Ter)

SNV
Germline

Chr2:47476402

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346729133

rs_730881762

5 SubmittersRCV000491607 RCV000520788 RCV000586396 RCV000541933 RCV003449362

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

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA346729189

rs_63750232

5 SubmittersRCV000490880 RCV000664310 RCV000659883 RCV001209603

NM_000251.3(MSH2):c.2105T>A (p.Val702Glu)

SNV
Germline

Chr2:47476466

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346729242

rs_587779137

4 SubmittersRCV000491379 RCV001215708 RCV003449383

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

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA46707640

rs_989510855

3 SubmittersRCV000492018 RCV000691228 RCV003470605

NM_000251.3(MSH2):c.2635-1G>A

SNV
Germline

Chr2:47482778

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346731306

rs_267608020

3 SubmittersRCV000491804 RCV003449378

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
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Endometrial carcinoma
Lynch syndrome
MSH6-related disorder

Criteria Provided
Conflicting Classifications

CA068021

rs_200944853

8 SubmittersRCV000490967 RCV000549468 RCV000759128 RCV003464056 RCV004003459 RCV004535548

NM_000179.3(MSH6):c.154G>T (p.Glu52Ter)

SNV
Germline

Chr2:47783387

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Endometrial carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA346734949

rs_1114167719

4 SubmittersRCV000491318 RCV001383954 RCV003449303 RCV003470600

NM_000179.3(MSH6):c.377C>G (p.Ser126Ter)

SNV
Germline

Chr2:47791043

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346737042

rs_1114167689

3 SubmittersRCV000491879 RCV000703232 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
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346739195

rs_1114167725

4 SubmittersRCV000491365 RCV001001010 RCV000690593 RCV003449307

NM_000179.3(MSH6):c.952G>T (p.Glu318Ter)

SNV
Germline

Chr2:47798935

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346740848

rs_1114167763

3 SubmittersRCV000491698 RCV001387270 RCV003449321

NM_000179.3(MSH6):c.1012A>T (p.Arg338Ter)

SNV
Germline

Chr2:47798995

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA346741265

rs_1114167804

4 SubmittersRCV000491015 RCV001063240 RCV003449337 RCV003441895

NM_000179.3(MSH6):c.1115G>A (p.Trp372Ter)

SNV
Germline

Chr2:47799098

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

CA346741989

rs_1114167731

7 SubmittersRCV000491992 RCV001782978 RCV001851339 RCV003464049 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

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA346743776

rs_1114167756

6 SubmittersRCV000490843 RCV000657749 RCV000812630 RCV003449317 RCV004003458

NM_000179.3(MSH6):c.1299T>G (p.Tyr433Ter)

SNV
Germline

Chr2:47799282

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Carcinoma of colon
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Endometrial carcinoma
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346744258

rs_267608055

6 SubmittersRCV000491745 RCV000502404 RCV001223369 RCV001786392 RCV003464055 RCV003449318

NM_000179.3(MSH6):c.1450G>T (p.Glu484Ter)

SNV
Germline

Chr2:47799433

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346745692

rs_587782706

5 SubmittersRCV000491319 RCV001865528 RCV003464058 RCV003449325

NM_000179.3(MSH6):c.1607G>C (p.Ser536Thr)

SNV
Germline

Chr2:47799590

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346746995

rs_587782352

5 SubmittersRCV000491862 RCV000822280 RCV003464048 RCV004003456

NM_000179.3(MSH6):c.1969C>T (p.Gln657Ter)

SNV
Germline

Chr2:47799952

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer
Lynch syndrome 5
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA346750600

rs_1114167709

7 SubmittersRCV000491722 RCV000494682 RCV001204100 RCV001293606 RCV003449296 RCV004003454

NM_000179.3(MSH6):c.2910G>A (p.Trp970Ter)

SNV
Germline

Chr2:47800893

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346756153

rs_765411990

5 SubmittersRCV000491637 RCV000657724 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
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
MSH6-related disorder
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346756575

rs_1114167707

6 SubmittersRCV000491165 RCV001284660 RCV001383493 RCV003464045 RCV004541540 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

Criteria Provided
Multiple Submitters
No Conflicts

CA346756752

rs_587779255

3 SubmittersRCV000491302 RCV001390928 RCV003449283

NM_000179.3(MSH6):c.3173-1G>A

SNV
Germline

Chr2:47803419

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346757809

rs_397515875

3 SubmittersRCV000490839 RCV001856943 RCV003449319

NM_000179.3(MSH6):c.3226C>G (p.Arg1076Gly)

SNV
Germline

Chr2:47803473

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA070417

rs_63750617

6 SubmittersRCV000491655 RCV000504512 RCV000759862 RCV000629920

NM_000179.3(MSH6):c.3358G>T (p.Glu1120Ter)

SNV
Germline

Chr2:47803605

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346758771

rs_1114167793

2 SubmittersRCV000491480 RCV003449335

NM_000179.3(MSH6):c.3439-2A>T

SNV
Germline

Chr2:47804908

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346759882

rs_267608098

3 SubmittersRCV000491972 RCV000703833 RCV003449312

NM_000179.3(MSH6):c.3539C>G (p.Ser1180Ter)

SNV
Germline

Chr2:47805010

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA071147

rs_766905993

4 SubmittersRCV000491840 RCV003766761 RCV002467449

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

4 SubmittersRCV000491533 RCV001355461 RCV001851337 RCV003449305

NM_000179.3(MSH6):c.3626T>C (p.Leu1209Pro)

SNV
Germline

Chr2:47805687

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA346760597

rs_1114167688

4 SubmittersRCV000491433 RCV003449281 RCV004003451 RCV002523978

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
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA072394

rs_763608368

4 SubmittersRCV000491543 RCV001856944 RCV004003464

NM_000179.3(MSH6):c.3968T>C (p.Phe1323Ser)

SNV
Germline

Chr2:47806618

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

CA46719891

rs_1051564593

7 SubmittersRCV000491517 RCV000797850 RCV000759147 RCV003464057 RCV004003460 RCV003316642

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_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_023936.1(MRPS34):c.321+1G>T

SNV
Germline

Chr16:1772798

Pathogenic

Combined oxidative phosphorylation deficiency 32
Leigh syndrome

No Assertion Criteria Provided

CA394243765

rs_1161932777

2 SubmittersRCV000505529 RCV000585740

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 cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA346734032

rs_63751271

4 SubmittersRCV000501259 RCV002358382 RCV003449400 RCV002527179

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 nonpolyposis colon cancer
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA46704739

rs_267608001

5 SubmittersRCV000504524 RCV000700706 RCV001251330 RCV002431453 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
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346730246

rs_202145681

6 SubmittersRCV000500713 RCV001353705 RCV001865590 RCV002446975 RCV003449406

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

4 SubmittersRCV000501100 RCV000808700 RCV002455962 RCV003449408

NM_000179.3(MSH6):c.2342C>T (p.Pro781Leu)

SNV
Germline

Chr2:47800325

Conflicting classifications of pathogenicity

Lynch syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346753452

rs_1553413710

5 SubmittersRCV000664307 RCV000589271 RCV002527180 RCV004023356

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
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA069854

rs_780485157

5 SubmittersRCV000499422 RCV000573654 RCV001350778 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
Condition: not provided
Lynch-like syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346761548

rs_1553333707

6 SubmittersRCV001035303 RCV001200630 RCV001249980 RCV002358383 RCV003449415

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
Mismatch repair cancer syndrome 4
Condition: not provided
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA153242095

rs_988423880

8 SubmittersRCV000500977 RCV000772161 RCV000818274 RCV001523839 RCV003126761 RCV003449416

NM_000535.7(PMS2):c.299A>G (p.Gln100Arg)

SNV
Germline/somatic

Chr7:6003744

Conflicting classifications of pathogenicity

Lynch syndrome
Endometrial carcinoma
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_747771951

5 SubmittersRCV000758690 RCV001355159 RCV001857068 RCV002438213

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
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A-related disorder

Criteria Provided
Conflicting Classifications

CA1555984

rs_375421208

3 SubmittersRCV000501518 RCV002527240 RCV003915371

NM_022552.5(DNMT3A):c.1155G>A (p.Pro385=)

SNV
Germline

Chr2:25246744

Conflicting classifications of pathogenicity

not specified
Tatton-Brown-Rahman overgrowth syndrome
Condition: not provided
DNMT3A-related disorder

Criteria Provided
Conflicting Classifications

CA1556117

rs_368009374

5 SubmittersRCV000503622 RCV000945500 RCV001534819 RCV003960160

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
X-linked severe congenital neutropenia
Wiskott-Aldrich syndrome

Criteria Provided
Conflicting Classifications

CA516356386

rs_1409607754

3 SubmittersRCV000501304 RCV003326446 RCV003766858

NM_001379500.1(COL18A1):c.2368C>T (p.Arg790Ter)

SNV
Germline

Chr21:45494560

Pathogenic

Retinal dystrophy
Knobloch syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA410497580

rs_1555870809

3 SubmittersRCV000504887 RCV001805122 RCV002524405

NM_022552.5(DNMT3A):c.2312G>A (p.Arg771Gln)

SNV
Germline

Chr2:25240312

Pathogenic

Tatton-Brown-Rahman overgrowth syndrome
Inborn genetic diseases

Criteria Provided
Single Submitter

CA1555657

rs_757823678

2 SubmittersRCV000505187 RCV000624769

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.1331G>A (p.Arg444His)

SNV
Germline

Chr2:47445602

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346724650

rs_557339938

7 SubmittersRCV000507809 RCV000572189 RCV000541857 RCV000986669 RCV004003546

NM_000251.3(MSH2):c.2152C>G (p.Gln718Glu)

SNV
Germline

Chr2:47476513

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346729326

rs_587779139

6 SubmittersRCV000508020 RCV000776722 RCV001539955 RCV002527341 RCV004003548

NM_000251.3(MSH2):c.2228C>T (p.Ser743Leu)

SNV
Germline/somatic

Chr2:47478289

Conflicting classifications of pathogenicity

not specified
Hereditary nonpolyposis colorectal neoplasms
Lynch-like syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346729718

rs_63751155

5 SubmittersRCV000507559 RCV001219215 RCV001250042 RCV002431464 RCV003449448

NM_000251.3(MSH2):c.2251G>C (p.Gly751Arg)

SNV
Germline

Chr2:47478312

Likely pathogenic

Condition: not provided
Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA346729765

rs_63751119

6 SubmittersRCV000508314 RCV000680198 RCV001014940 RCV003593976

NM_000179.3(MSH6):c.2677C>G (p.Leu893Val)

SNV
Germline

Chr2:47800660

Conflicting classifications of pathogenicity

not specified
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA069423

rs_370754319

5 SubmittersRCV000506119 RCV000794150 RCV001179711 RCV004003551

NM_000249.4(MLH1):c.454-10T>G

SNV
Germline

Chr3:37008804

Conflicting classifications of pathogenicity

not specified
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA542218413

rs_1260098414

3 SubmittersRCV000506460 RCV001392293 RCV004003543

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

7 SubmittersRCV000507540 RCV000530268 RCV000662813 RCV001026032 RCV004003553

NM_000535.7(PMS2):c.241G>T (p.Glu81Ter)

SNV
Germline

Chr7:6003981

Pathogenic/Likely 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

11 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
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346749316

rs_756043669

3 SubmittersRCV000507042 RCV000657686 RCV003449451

NM_017547.4(FOXRED1):c.754C>T (p.Arg252Cys)

SNV
Germline

Chr11:126275814

Conflicting classifications of pathogenicity

Condition: not provided
Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 1
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
Leigh syndrome
Mitochondrial complex IV deficiency, nuclear type 1
COX10-related disorder

Criteria Provided
Conflicting Classifications

CA8402598

rs_113058506

7 SubmittersRCV000514768 RCV000603785 RCV001122054 RCV001122055 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
Knobloch syndrome
Condition: not provided
Inborn genetic diseases
COL18A1-related disorder

Criteria Provided
Conflicting Classifications

CA10065497

rs_200284308

9 SubmittersRCV000517619 RCV000764262 RCV000766954 RCV002527466 RCV004553126

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

Criteria Provided
Conflicting Classifications

CA039794

rs_761205332

6 SubmittersRCV000521261 RCV000583363 RCV001356013 RCV001553591 RCV002060268 RCV004003605

NM_000251.3(MSH2):c.999T>G (p.Cys333Trp)

SNV
Germline

Chr2:47416352

Pathogenic/Likely pathogenic

Condition: not provided
Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA346733125

rs_1553353167

3 SubmittersRCV000521057 RCV003449485 RCV002384007

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

Criteria Provided
Conflicting Classifications

CA46702663

rs_763985746

5 SubmittersRCV000519754 RCV000547472 RCV001010007 RCV004568666

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_000249.4(MLH1):c.1667G>A (p.Ser556Asn)

SNV
Germline/somatic

Chr3:37040294

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Lynch-like syndrome
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA352060789

rs_63751596

7 SubmittersRCV000520479 RCV001046224 RCV001093684 RCV001249931 RCV001012628 RCV003470652

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

Condition: not provided
Wilms tumor 1
Frasier syndrome
Wilms tumor 1
Drash syndrome
11p partial monosomy syndrome
Drash syndrome
Inborn genetic diseases
WT1-related Wilms tumor
WT1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA379960070

rs_1423753702

7 SubmittersRCV000523951 RCV000709138 RCV000653779 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 4 deficiency, nuclear type 3

Criteria Provided
Conflicting Classifications

CA8402295

rs_202207627

6 SubmittersRCV000521510 RCV001127738 RCV001127737 RCV002476049

NM_000540.3(RYR1):c.9472+1G>A

SNV
Germline

Chr19:38512484

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
RYR1-related disorder
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
Central core myopathy
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA073621

rs_776697656

6 SubmittersRCV000522844 RCV001266974 RCV001858000 RCV002506276 RCV004003622

NM_000540.3(RYR1):c.14129+1G>A

SNV
Germline

Chr19:38573308

Likely pathogenic

Condition: not provided
RYR1-related disorder
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
Central core myopathy

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
Thrombocytopenia 1
Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia

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
X-linked severe congenital neutropenia
Thrombocytopenia 1
Wiskott-Aldrich syndrome
Wiskott-Aldrich syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA412872755

rs_1557007123

3 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

5 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
Lynch syndrome 1
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA040694

rs_758403441

4 SubmittersRCV000544343 RCV002289719 RCV001764526 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

Criteria Provided
Conflicting Classifications

CA425972522

rs_1553353105

5 SubmittersRCV000557307 RCV000563808 RCV004003757

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.166G>C (p.Glu56Gln)

SNV
Germline

Chr2:47403357

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346728981

rs_587779102

6 SubmittersRCV000525199 RCV001012654 RCV001260343 RCV004003737 RCV003459177

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.1192G>A (p.Ala398Thr)

SNV
Germline

Chr2:47429857

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA46702776

rs_988252817

7 SubmittersRCV000550490 RCV001141978 RCV002225648 RCV002341256 RCV004003727

NM_000251.3(MSH2):c.2211-7G>A

SNV
Germline

Chr2:47478265

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
not specified
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA658655739

rs_764972956

5 SubmittersRCV001393988 RCV001193291 RCV003584645 RCV004003743

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

Criteria Provided
Conflicting Classifications

CA027338

rs_201059765

4 SubmittersRCV000547106 RCV000774563 RCV004003729

NM_000251.3(MSH2):c.2412A>G (p.Ala804=)

SNV
Germline

Chr2:47478473

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346730217

rs_141523959

3 SubmittersRCV000559989 RCV004003748 RCV002456045

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

Criteria Provided
Conflicting Classifications

CA346731558

rs_786203553

6 SubmittersRCV000539916 RCV000561718 RCV001357777 RCV003441913 RCV003459180

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

Criteria Provided
Conflicting Classifications

CA346728296

rs_1553368514

3 SubmittersRCV000542666 RCV002404371 RCV003459178

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
Condition: not provided
Hereditary cancer-predisposing syndrome
Ovarian cancer
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA068784

rs_745442468

7 SubmittersRCV000525000 RCV000759131 RCV000561728 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

Criteria Provided
Conflicting Classifications

CA346736958

rs_1182444882

6 SubmittersRCV000537161 RCV000575269 RCV000781599 RCV004003690

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_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

4 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

Criteria Provided
Conflicting Classifications

CA346731004

rs_1313098392

4 SubmittersRCV000547670 RCV001016009 RCV004003749

NM_000251.3(MSH2):c.2661C>G (p.Phe887Leu)

SNV
Germline

Chr2:47482805

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
not specified
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346731442

rs_1290935051

5 SubmittersRCV000526536 RCV001193289 RCV002431522 RCV002289718 RCV004003750

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

7 SubmittersRCV000538201 RCV000562322 RCV000759824 RCV004003738 RCV004568717

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

Criteria Provided
Conflicting Classifications

CA46678574

rs_63749984

5 SubmittersRCV000526049 RCV000579804 RCV001584241 RCV004003753

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

Criteria Provided
Conflicting Classifications

CA532705780

rs_1464965737

3 SubmittersRCV000559786 RCV002456043 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
Condition: not provided
Lynch syndrome
Muir-Torré syndrome
Lynch syndrome 1
Mismatch repair cancer syndrome 2

Criteria Provided
Conflicting Classifications

CA46660139

rs_267607954

6 SubmittersRCV000556329 RCV000567928 RCV003478112 RCV004003731 RCV002476086

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
not specified
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA040162

rs_749442037

6 SubmittersRCV000559155 RCV001025957 RCV002248760 RCV001770405 RCV004003754

NM_000251.3(MSH2):c.904T>A (p.Leu302Met)

SNV
Germline

Chr2:47414380

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346732951

rs_876660115

7 SubmittersRCV000527981 RCV001800735 RCV000573534 RCV003470714 RCV004003755

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

Criteria Provided
Conflicting Classifications

CA346727075

rs_1553365792

3 SubmittersRCV000553969 RCV003159731 RCV003459176

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 cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA031369

rs_778152746

6 SubmittersRCV000570637 RCV000556013 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

Criteria Provided
Conflicting Classifications

CA346729424

rs_1553369204

5 SubmittersRCV000532179 RCV000568631 RCV001755787 RCV004003742

NM_000251.3(MSH2):c.1892G>A (p.Arg631Lys)

SNV
Germline

Chr2:47475157

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

CA346728562

rs_1361816581

8 SubmittersRCV000568306 RCV000547904 RCV001572130 RCV002481753 RCV004003740 RCV004568718

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

4 SubmittersRCV000553342 RCV000679305 RCV002456044 RCV004003745

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

Criteria Provided
Conflicting Classifications

CA036330

rs_779729016

5 SubmittersRCV000550167 RCV000567964 RCV003459179

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
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA070770

rs_781676597

6 SubmittersRCV000525940 RCV000579610 RCV003225079 RCV004003691 RCV004568709

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.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

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

4 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

5 SubmittersRCV000537305 RCV000774617 RCV001140557

NM_000179.3(MSH6):c.945T>G (p.Ser315=)

SNV
Germline

Chr2:47798928

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA426120632

rs_761581941

8 SubmittersRCV000562002 RCV000781580 RCV001079303 RCV000827332 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

5 SubmittersRCV000534112 RCV000569127 RCV003488656 RCV004003668

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

Criteria Provided
Conflicting Classifications

CA069233

rs_745954217

5 SubmittersRCV000526734 RCV000567854 RCV004003680 RCV004568706

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

Criteria Provided
Conflicting Classifications

CA068496

rs_749711246

7 SubmittersRCV000550483 RCV000572538 RCV001548306 RCV004003671

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

Criteria Provided
Conflicting Classifications

CA346755166

rs_587782593

8 SubmittersRCV000529411 RCV000581939 RCV001000818 RCV003459169 RCV004003681 RCV004546513

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

Criteria Provided
Conflicting Classifications

CA069556

rs_761622304

7 SubmittersRCV000560703 RCV000566003 RCV000708881 RCV001558112 RCV003459170

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.3505C>G (p.Pro1169Ala)

SNV
Germline

Chr2:47804976

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA46717040

rs_904846776

8 SubmittersRCV000543217 RCV000572853 RCV000588973 RCV003470704 RCV004003694

NM_000249.4(MLH1):c.1731+2T>C

SNV
Germline/somatic

Chr3:37042333

Pathogenic/Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA352062181

rs_267607856

3 SubmittersRCV000758580 RCV000550081 RCV002413436

NM_000249.4(MLH1):c.1732-2A>C

SNV
Germline

Chr3:37047517

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA352064122

rs_267607852

4 SubmittersRCV000542173 RCV002268141 RCV002284405 RCV002404368

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.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_014159.7(SETD2):c.664C>A (p.Leu222Ile)

SNV
Germline

Chr3:47123972

Conflicting classifications of pathogenicity

Luscan-Lumish syndrome
Luscan-Lumish syndrome
Intellectual developmental disorder, autosomal dominant 70
Rabin-Pappas syndrome
SETD2-related disorder

Criteria Provided
Conflicting Classifications

CA2363732

rs_192262279

3 SubmittersRCV000526824 RCV003224336 RCV004543235

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
Paragangliomas 5
Hereditary cancer-predisposing syndrome
Mitochondrial complex II deficiency, nuclear type 1
Hereditary pheochromocytoma-paraganglioma
Leigh syndrome

Criteria Provided
Conflicting Classifications

CA3173134

rs_778667374

3 SubmittersRCV000541698 RCV001010227 RCV001156143 RCV001156144 RCV001157830

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
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA051535

rs_775445157

8 SubmittersRCV000556803 RCV000564413 RCV000781740 RCV001568558 RCV004003768 RCV003338645

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
Lynch syndrome 4
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA042611

rs_776725795

5 SubmittersRCV000551665 RCV000987835 RCV001010398 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

Criteria Provided
Multiple Submitters
No Conflicts

CA366736382

rs_1554294393

2 SubmittersRCV000528011 RCV003449547

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_024426.6(WT1):c.662-5C>T

SNV
Germline

Chr11:32428624

Conflicting classifications of pathogenicity

Wilms tumor 1
11p partial monosomy syndrome
Frasier syndrome
Drash syndrome
Hereditary cancer-predisposing syndrome
Wilms tumor 1

Criteria Provided
Conflicting Classifications

CA065411

rs_780259089

3 SubmittersRCV000542648 RCV002256395 RCV003316729

NM_024426.6(WT1):c.314C>G (p.Ala105Gly)

SNV
Germline

Chr11:32435047

Conflicting classifications of pathogenicity

Drash syndrome
Frasier syndrome
Wilms tumor 1
11p partial monosomy syndrome
Wilms tumor 1
8 conditions
Disorder of sexual differentiation
Condition: not provided
Drash syndrome

Criteria Provided
Conflicting Classifications

CA219511175

rs_948061247

7 SubmittersRCV000545211 RCV000709150 RCV000763735 RCV001568364 RCV003139859 RCV003459256

NM_000540.3(RYR1):c.4847C>T (p.Thr1616Met)

SNV
Germline

Chr19:38483429

Conflicting classifications of pathogenicity

RYR1-related disorder
Condition: not provided
King Denborough syndrome
Central core myopathy
Congenital myopathy with fiber type disproportion
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA066462

rs_776194441

5 SubmittersRCV000541033 RCV001546453 RCV002476208 RCV004024433

NM_000540.3(RYR1):c.14833C>T (p.Arg4945Ter)

SNV
Germline

Chr19:38585967

Conflicting classifications of pathogenicity

RYR1-related disorder
Condition: not provided
Congenital multicore myopathy with external ophthalmoplegia
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
Congenital myopathy with fiber type disproportion
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA405692312

rs_1432807966

6 SubmittersRCV000541517 RCV000595499 RCV002250657 RCV002497202 RCV003999490

NM_000540.3(RYR1):c.14070G>A (p.Thr4690=)

SNV
Germline

Chr19:38573248

Conflicting classifications of pathogenicity

RYR1-related disorder
Condition: not provided
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
Congenital myopathy with fiber type disproportion
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA060795

rs_113058779

5 SubmittersRCV001078943 RCV000827374 RCV002497201 RCV003999489

NM_000540.3(RYR1):c.5287C>T (p.Pro1763Ser)

SNV
Germline

Chr19:38485942

Conflicting classifications of pathogenicity

RYR1-related disorder
King Denborough syndrome
Central core myopathy
Congenital myopathy with fiber type disproportion
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1
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
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

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

Criteria Provided
Conflicting Classifications

CA426119404

rs_775554736

7 SubmittersRCV000575417 RCV000979908 RCV002510922 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
Lynch syndrome 1
Lynch syndrome
not specified

Criteria Provided
Conflicting Classifications

CA346729713

rs_1183145967

7 SubmittersRCV000572927 RCV001575414 RCV001858103 RCV003459289 RCV004000847 RCV003320690

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.161C>T (p.Ala54Val)

SNV
Germline

Chr2:47403352

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA029814

rs_768661914

4 SubmittersRCV000560975 RCV003447542 RCV001867892

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
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346730475

rs_1553350714

3 SubmittersRCV000575907 RCV001858299 RCV003451249

NM_000251.3(MSH2):c.464T>C (p.Val155Ala)

SNV
Germline

Chr2:47410191

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Muir-Torré syndrome
Mismatch repair cancer syndrome 1
Condition: not provided
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346730530

rs_876658188

7 SubmittersRCV000566316 RCV000808811 RCV000764422 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.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

Criteria Provided
Conflicting Classifications

CA426119361

rs_1553348705

5 SubmittersRCV000573752 RCV000943982 RCV001552391 RCV004000861

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

Criteria Provided
Conflicting Classifications

CA029754

rs_587778523

7 SubmittersRCV000567489 RCV000662462 RCV001039308 RCV003153734 RCV004000846

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

4 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.1661G>A (p.Ser554Asn)

SNV
Germline

Chr2:47466808

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Muir-Torré syndrome
Lynch syndrome 1
Mismatch repair cancer syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA030195

rs_63750597

5 SubmittersRCV000802215 RCV001310202 RCV000570315 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 nonpolyposis colorectal neoplasms
Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Muir-Torré syndrome
Mismatch repair cancer syndrome 2
not specified

Criteria Provided
Conflicting Classifications

CA042047

rs_779673318

6 SubmittersRCV000629913 RCV000708829 RCV000572560 RCV002483525 RCV003320694

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.183G>C (p.Gln61His)

SNV
Germline

Chr2:47403374

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA031678

rs_751082926

6 SubmittersRCV000571464 RCV000679297 RCV001858303 RCV004001042

NM_000251.3(MSH2):c.211+3G>T

SNV
Germline

Chr2:47403405

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA033928

rs_778940305

5 SubmittersRCV000574792 RCV004001033 RCV001867893 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

6 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
not specified
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346729739

rs_1553369652

4 SubmittersRCV000561848 RCV001065224 RCV003987610 RCV004569216

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

6 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
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346730953

rs_1400051085

4 SubmittersRCV000575878 RCV000823779 RCV000780442 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

Criteria Provided
Conflicting Classifications

CA346724829

rs_757534022

3 SubmittersRCV000574584 RCV001223400 RCV004001117

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

Criteria Provided
Conflicting Classifications

CA425971003

rs_1368565489

8 SubmittersRCV000569433 RCV001439849 RCV001692208 RCV004000860 RCV004530598

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
Muir-Torré syndrome
Mismatch repair cancer syndrome 2
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346726967

rs_1553365763

4 SubmittersRCV000573636 RCV001043758 RCV002497215 RCV004001118

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
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346724826

rs_1553361303

8 SubmittersRCV000567509 RCV000685208 RCV000759100 RCV003459384 RCV004001116

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
not specified
Condition: not provided
Endometrial carcinoma
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA46688635

rs_768444916

8 SubmittersRCV000572033 RCV000629809 RCV002265801 RCV001566523 RCV003465183 RCV003316740

NM_000251.3(MSH2):c.1446A>C (p.Arg482Ser)

SNV
Germline

Chr2:47463090

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346726920

rs_1553365751

2 SubmittersRCV000571070 RCV004569139

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
Lynch syndrome
not specified

Criteria Provided
Conflicting Classifications

CA46712554

rs_890670494

7 SubmittersRCV000569579 RCV000629815 RCV003222042 RCV004000905 RCV003987605

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
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346731919

rs_1399941088

5 SubmittersRCV000572179 RCV000697646 RCV004000845 RCV004569109

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

Criteria Provided
Conflicting Classifications

CA073615

rs_562487553

4 SubmittersRCV000562657 RCV000630127 RCV004001067

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
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346729275

rs_63750108

4 SubmittersRCV000563438 RCV000629938 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

3 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

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA346729821

rs_1060502038

4 SubmittersRCV000564777 RCV001844200 RCV003451247 RCV001858296

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
Lynch syndrome 5
Endometrial carcinoma
Endometrial carcinoma
Mismatch repair cancer syndrome 3
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346735083

rs_1553408388

5 SubmittersRCV000569470 RCV000695473 RCV003451234 RCV003459308 RCV002483526

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

Criteria Provided
Multiple Submitters
No Conflicts

CA346747546

rs_63749973

3 SubmittersRCV000574484 RCV003451270 RCV003459390

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.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

7 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
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified

Criteria Provided
Conflicting Classifications

CA426121617

rs_537604099

6 SubmittersRCV000565256 RCV000758624 RCV000630416 RCV001001258

NM_000179.3(MSH6):c.2183A>G (p.Lys728Arg)

SNV
Germline

Chr2:47800166

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Endometrial carcinoma
Mismatch repair cancer syndrome 1
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA068575

rs_35552856

8 SubmittersRCV000564228 RCV000765685 RCV000688061 RCV001591322 RCV003470823 RCV004000868

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
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA067120

rs_760311819

5 SubmittersRCV000566365 RCV002469207 RCV001229506 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
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA069760

rs_778287080

8 SubmittersRCV000561841 RCV000629885 RCV001374579 RCV001355686 RCV001764641 RCV004000884

NM_000179.3(MSH6):c.2413A>G (p.Ile805Val)

SNV
Germline

Chr2:47800396

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA46711082

rs_928923556

7 SubmittersRCV000564287 RCV000815080 RCV000985832 RCV004000878 RCV004569115

NM_000179.3(MSH6):c.1910T>C (p.Leu637Pro)

SNV
Germline

Chr2:47799893

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA346750185

rs_1553413288

2 SubmittersRCV000564992 RCV003451218

NM_000179.3(MSH6):c.1030C>T (p.Gln344Ter)

SNV
Germline

Chr2:47799013

Pathogenic

Hereditary cancer-predisposing syndrome
Carcinoma of colon
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA346741390

rs_730881815

4 SubmittersRCV000570360 RCV001354541 RCV003451217 RCV001865721

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

5 SubmittersRCV000570481 RCV000758675 RCV001327550 RCV004568234

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.3463C>T (p.Gln1155Ter)

SNV
Germline

Chr2:47804934

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346760051

rs_1553332166

5 SubmittersRCV000568670 RCV000780477 RCV001853718 RCV003451256

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

5 SubmittersRCV000566298 RCV000630257 RCV001139789 RCV004000865

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_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

Criteria Provided
Conflicting Classifications

CA433065547

rs_63751191

4 SubmittersRCV000564871 RCV000934452 RCV003155236 RCV004000836

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

7 SubmittersRCV000567341 RCV000630256 RCV000781586 RCV004001049 RCV004530606

NM_000249.4(MLH1):c.1989+2T>C

SNV
Germline

Chr3:37048611

Likely pathogenic

Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Condition: not provided
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA352066025

rs_1553664119

4 SubmittersRCV000564282 RCV003451274 RCV003144386 RCV004001191

NM_000249.4(MLH1):c.2059C>A (p.Arg687=)

SNV
Germline

Chr3:37048973

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA433086568

rs_63751275

4 SubmittersRCV000564963 RCV001220366 RCV004001029

NM_000249.4(MLH1):c.432C>T (p.Gly144=)

SNV
Germline

Chr3:37007042

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA433067110

rs_1553642108

4 SubmittersRCV000576045 RCV001066875 RCV004001115

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

4 SubmittersRCV000564955 RCV001153196 RCV001151934 RCV001153197 RCV003139877

NM_000535.7(PMS2):c.2445+1G>A

SNV
Germline

Chr7:5977587

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Carcinoma of colon
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366735529

rs_876661113

5 SubmittersRCV000564513 RCV001358239 RCV001386315 RCV003451263

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.1760G>A (p.Ser587Asn)

SNV
Germline

Chr7:5987005

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
not specified

Criteria Provided
Conflicting Classifications

CA045499

rs_762100304

10 SubmittersRCV000569664 RCV000662639 RCV000629864 RCV001356078 RCV001821663

NM_000535.7(PMS2):c.1606C>T (p.Gln536Ter)

SNV
Germline

Chr7:5987159

Pathogenic

Hereditary cancer-predisposing syndrome
Mismatch repair cancer syndrome 4
Lynch syndrome 4
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA366741495

rs_1554297488

6 SubmittersRCV000564667 RCV003315438 RCV003451290 RCV003758846

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 4
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA153227998

rs_557906137

6 SubmittersRCV000562900 RCV000796414 RCV002509443 RCV003459301 RCV004000893

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

6 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.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.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
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA051942

rs_1805322

7 SubmittersRCV000573847 RCV000587439 RCV001553488 RCV001049150 RCV004001071

NM_000535.7(PMS2):c.803+5G>A

SNV
Germline

Chr7:5997321

Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA153239468

rs_939641251

3 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

Criteria Provided
Multiple Submitters
No Conflicts

CA366744819

rs_1554304979

6 SubmittersRCV000564836 RCV000630233 RCV001545463 RCV003465282 RCV004001202

NM_000535.7(PMS2):c.164-1G>A

SNV
Germline

Chr7:6004059

Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA044881

rs_763308607

5 SubmittersRCV000564457 RCV001378577 RCV001280603 RCV003451261

NM_000535.7(PMS2):c.535A>T (p.Lys179Ter)

SNV
Germline

Chr7:6002455

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA366744151

rs_1554303861

3 SubmittersRCV000574316 RCV003451235 RCV004017678

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_000535.7(PMS2):c.60G>C (p.Arg20=)

SNV
Germline

Chr7:6005995

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA453650334

rs_1554306548

4 SubmittersRCV000565859 RCV001463104 RCV004001125

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

Criteria Provided
Multiple Submitters
No Conflicts

CA375693588

rs_1391748504

3 SubmittersRCV000578241

NM_000251.3(MSH2):c.1045C>T (p.Pro349Ser)

SNV
Germline

Chr2:47416398

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA346733218

rs_267607939

4 SubmittersRCV000579738 RCV003237947 RCV003886417 RCV003758849

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

Criteria Provided
Conflicting Classifications

CA346734041

rs_146567853

4 SubmittersRCV000580175 RCV000696098 RCV004001255

NM_000251.3(MSH2):c.286C>T (p.Arg96Cys)

SNV
Germline

Chr2:47408475

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
not specified

Criteria Provided
Conflicting Classifications

CA346729600

rs_1443234544

7 SubmittersRCV000580951 RCV001090210 RCV000629862 RCV004001260 RCV001193290

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

Criteria Provided
Conflicting Classifications

CA346729112

rs_1553369013

5 SubmittersRCV000579590 RCV001240812 RCV001574074 RCV004001257

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

3 SubmittersRCV000580956 RCV000800340 RCV004001261

NM_000251.3(MSH2):c.2649T>G (p.Ile883Met)

SNV
Germline

Chr2:47482793

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA037199

rs_768983827

6 SubmittersRCV000580301 RCV000629841 RCV001193286 RCV002245022 RCV004001259

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

Criteria Provided
Conflicting Classifications

CA346755351

rs_1436232875

5 SubmittersRCV000580164 RCV000695435 RCV003459430 RCV004001269

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
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346737166

rs_1321666742

8 SubmittersRCV000581061 RCV000797264 RCV001284187 RCV001779017 RCV003459433 RCV004001272

NM_000251.3(MSH2):c.-5T>G

SNV
Germline

Chr2:47403187

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA658683193

rs_1553348652

3 SubmittersRCV000583705 RCV003767309 RCV004002325

NM_000251.3(MSH2):c.-8G>A

SNV
Germline

Chr2:47403184

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Breast and/or ovarian cancer
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA658683192

rs_1064795641

5 SubmittersRCV000581194 RCV001358264 RCV003150287 RCV001860085 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.1369A>G (p.Thr457Ala)

SNV
Germline

Chr2:47445640

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346724787

rs_1445965781

4 SubmittersRCV000583346 RCV001860087 RCV004002329

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
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA532705013

rs_749778569

4 SubmittersRCV000582182 RCV001323272 RCV001731797 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

5 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.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.1803G>C (p.Gln601His)

SNV
Germline

Chr2:47475068

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346728326

rs_1553368556

4 SubmittersRCV000584510 RCV000796750 RCV000735960

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_000179.3(MSH6):c.628-13C>G

SNV
Germline

Chr2:47798598

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Condition: not provided
Malignant tumor of breast
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA073220

rs_538280815

7 SubmittersRCV000584305 RCV001142202 RCV001712596 RCV001357031 RCV002061863 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.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.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

Criteria Provided
Conflicting Classifications

CA346760558

rs_369778514

6 SubmittersRCV000584693 RCV000587024 RCV000629874 RCV000610333 RCV004002353

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

3 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.804-15A>G

SNV
Germline

Chr7:5995648

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA572547855

rs_1448706115

5 SubmittersRCV000581748 RCV001293510 RCV001662632 RCV002061909 RCV004002371

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

Criteria Provided
Conflicting Classifications

CA453650319

rs_1554306525

6 SubmittersRCV000582802 RCV001433232 RCV003155240 RCV003992336 RCV004002370

NM_000535.7(PMS2):c.1120C>T (p.Gln374Ter)

SNV
Germline

Chr7:5989824

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colon cancer
Lynch syndrome 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA366742765

rs_1437858319

5 SubmittersRCV000581876 RCV001193817 RCV003451309 RCV002509456

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

Criteria Provided
Conflicting Classifications

CA572548192

rs_1229860023

5 SubmittersRCV000584358 RCV000630290 RCV000987845 RCV004002368

NM_000535.7(PMS2):c.354-7C>T

SNV
Germline

Chr7:6002643

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome 4
Hereditary nonpolyposis colorectal neoplasms
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA049526

rs_758471869

6 SubmittersRCV000583777 RCV000590705 RCV000662819 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

Criteria Provided
Multiple Submitters
No Conflicts

CA366744852

rs_730881914

3 SubmittersRCV000584111 RCV000657694 RCV003451311

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
Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346724761

rs_1060502025

4 SubmittersRCV000589611 RCV001220102 RCV003451329 RCV002384283

NM_000179.3(MSH6):c.3646+1G>T

SNV
Germline

Chr2:47805708

Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA346760640

rs_1553332772

4 SubmittersRCV000587991 RCV001860121 RCV003451326 RCV003278922

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

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA352035488

rs_63750206

4 SubmittersRCV000589590 RCV000700612 RCV003388588

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

Criteria Provided
Multiple Submitters
No Conflicts

CA3264179

rs_376281345

4 SubmittersRCV000007294 RCV000588112 RCV003558447

NM_174889.5(NDUFAF2):c.221G>A (p.Trp74Ter)

SNV
Germline

Chr5:61098995

Pathogenic/Likely pathogenic

Leigh syndrome
Condition: not provided
Mitochondrial complex 1 deficiency, nuclear type 10

Criteria Provided
Multiple Submitters
No Conflicts

CA3278149

rs_772294726

4 SubmittersRCV000587093 RCV001557146 RCV002497240

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

Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2
Leigh syndrome
Condition: not provided
See cases

Criteria Provided
Multiple Submitters
No Conflicts

CA5642259

rs_149718203

5 SubmittersRCV000033254 RCV000586150 RCV000599531 RCV002252173

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

Conflicting classifications of pathogenicity

Condition: not provided
Mitochondrial complex I deficiency
Leigh syndrome
Mitochondrial complex 1 deficiency, nuclear type 4
NDUFV1-related disorder

Criteria Provided
Conflicting Classifications

CA6143414

rs_536758576

11 SubmittersRCV000592779 RCV001267712 RCV001731801 RCV001783094 RCV004530649

NM_001378615.1(CC2D2A):c.1946C>T (p.Thr649Met)

SNV
Germline

Chr4:15538080

Conflicting classifications of pathogenicity

Condition: not provided
Familial aplasia of the vermis
Meckel-Gruber syndrome
COACH syndrome 1
Meckel syndrome, type 6
Joubert syndrome 9
Meckel syndrome, type 6
Joubert syndrome 9

Criteria Provided
Conflicting Classifications

CA2863798

rs_201884883

5 SubmittersRCV000594861 RCV000694442 RCV000765756 RCV001148070 RCV001148071

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
DNMT3A-related disorder

Criteria Provided
Conflicting Classifications

CA1555477

rs_763189481

4 SubmittersRCV000596005 RCV001088447 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
Malignant hyperthermia, susceptibility to, 1
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
Conflicting Classifications

CA066047

rs_151325948

8 SubmittersRCV000623845 RCV000721535 RCV000818782 RCV003514380 RCV002497264

NM_015272.5(RPGRIP1L):c.502G>A (p.Ala168Thr)

SNV
Germline

Chr16:53692093

Conflicting classifications of pathogenicity

Condition: not provided
Meckel-Gruber syndrome
Familial aplasia of the vermis
Familial aplasia of the vermis
Joubert syndrome 7
COACH syndrome 3
Meckel syndrome, type 5
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
Familial aplasia of the vermis
Meckel syndrome, type 5
Familial aplasia of the vermis
Joubert syndrome 7
Meckel syndrome, type 5
COACH syndrome 3
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8058130

rs_201413825

7 SubmittersRCV000596655 RCV001248488 RCV001330328 RCV001829675 RCV002476328 RCV003278935

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_000179.3(MSH6):c.1993G>T (p.Glu665Ter)

SNV
Germline

Chr2:47799976

Pathogenic/Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colon cancer
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
MSH6-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA346750651

rs_1333555322

5 SubmittersRCV000602898 RCV003117420 RCV002420653 RCV003451452 RCV004527682

NM_000179.3(MSH6):c.2419G>T (p.Glu807Ter)

SNV
Germline

Chr2:47800402

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346754007

rs_587779923

3 SubmittersRCV000601053 RCV000688489 RCV003316777

NM_000535.7(PMS2):c.2239A>T (p.Arg747Ter)

SNV
Germline

Chr7:5978632

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366736632

rs_1554294448

4 SubmittersRCV000607235 RCV002431760 RCV003758874 RCV003451360

NM_024426.6(WT1):c.1568G>A (p.Ter523=)

SNV
Germline

Chr11:32389059

Conflicting classifications of pathogenicity

Drash syndrome
Frasier syndrome
Wilms tumor 1
11p partial monosomy syndrome
Nephrotic syndrome, type 4
Wilms tumor 1
Meacham syndrome
Condition: not provided
Kidney disorder
WT1-related disorder

Criteria Provided
Conflicting Classifications

CA064691

rs_148856160

7 SubmittersRCV000863727 RCV001104139 RCV001104138 RCV001104443 RCV001698053 RCV002294359 RCV004547744

NM_004551.3(NDUFS3):c.747G>A (p.Pro249=)

SNV
Germline

Chr11:47584433

Conflicting classifications of pathogenicity

not specified
Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5978089

rs_3740654

3 SubmittersRCV000614898 RCV001103854 RCV001103853 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

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

rs_587753385

2 SubmittersRCV000754103

NM_000179.3(MSH6):c.1100A>G (p.His367Arg)

SNV
Germline

Chr2:47799083

Pathogenic

Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA346741910

rs_1553412495

4 SubmittersRCV000622394 RCV003278952 RCV003451475 RCV003594011

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_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

7 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
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion
Central core myopathy
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA074223

rs_752199191

8 SubmittersRCV000627253 RCV001809708 RCV001855333 RCV002499018

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

Early infantile epileptic encephalopathy with suppression bursts
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
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346731985

rs_1212577306

6 SubmittersRCV000629704 RCV000777452 RCV002233918 RCV004002771 RCV004568355

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.2129C>G (p.Ala710Gly)

SNV
Germline

Chr2:47476490

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA034290

rs_373717132

4 SubmittersRCV000629899 RCV004002780 RCV002420671

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

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346738562

rs_1553411391

4 SubmittersRCV000629824 RCV001805232 RCV003451488

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
Endometrial carcinoma
Mismatch repair cancer syndrome 3
Lynch syndrome 5
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA46703403

rs_148517241

5 SubmittersRCV000630129 RCV001024658 RCV002483771 RCV004002791 RCV004568365

NM_000179.3(MSH6):c.2180C>G (p.Thr727Ser)

SNV
Germline

Chr2:47800163

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA068566

rs_767861096

4 SubmittersRCV000629678 RCV000774601 RCV004002769

NM_000251.3(MSH2):c.1810G>A (p.Ala604Thr)

SNV
Germline

Chr2:47475075

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346728336

rs_1553368568

5 SubmittersRCV000629723 RCV001013211 RCV001731820 RCV004002772

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.3173-2A>C

SNV
Germline

Chr2:47803418

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Endometrial carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA346757808

rs_1553331242

4 SubmittersRCV000630128 RCV002325200 RCV003451501 RCV003459499

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

5 SubmittersRCV000630015 RCV000771661 RCV003332215 RCV004002789

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
Lynch syndrome 5
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA346756433

rs_1553414395

5 SubmittersRCV000629667 RCV000986728 RCV001541581 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
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA346761006

rs_1469961964

4 SubmittersRCV000629876 RCV002343196 RCV004002778 RCV004568359

NM_000249.4(MLH1):c.227T>A (p.Val76Glu)

SNV
Germline

Chr3:37000974

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Conflicting Classifications

CA352035965

rs_1434599441

4 SubmittersRCV000629926 RCV004002782 RCV002448929 RCV003451493

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

Criteria Provided
Conflicting Classifications

CA433079515

rs_147939838

5 SubmittersRCV000630321 RCV001011502 RCV002264965 RCV004002801

NM_000249.4(MLH1):c.1051G>A (p.Gly351Arg)

SNV
Germline

Chr3:37025649

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
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA352052043

rs_1437454428

7 SubmittersRCV000629849 RCV000985774 RCV001017137 RCV002492942 RCV003459491 RCV004002777

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

Luscan-Lumish syndrome
not specified
Condition: not provided
SETD2-related disorder

Criteria Provided
Conflicting Classifications

CA2363615

rs_145650484

6 SubmittersRCV000652623 RCV001816638 RCV001719158 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

Paragangliomas 5
Mitochondrial complex II deficiency, nuclear type 1
Hereditary pheochromocytoma-paraganglioma
Mitochondrial complex II deficiency, nuclear type 1
Leigh syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA3172877

rs_199618059

3 SubmittersRCV000649483 RCV001155907 RCV001155908 RCV001155909 RCV002343344

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

Criteria Provided
Conflicting Classifications

CA453645313

rs_1405625567

3 SubmittersRCV000630341 RCV002377348 RCV004002802

NM_000535.7(PMS2):c.353G>A (p.Ser118Asn)

SNV
Germline

Chr7:6003690

Pathogenic/Likely pathogenic

Carcinoma of colon
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA366744522

rs_1394474494

6 SubmittersRCV001358610 RCV000629959 RCV002457987 RCV003451495 RCV001692240

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
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366742939

rs_1554298786

5 SubmittersRCV000629989 RCV001805233 RCV001591406 RCV003451496

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.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

Criteria Provided
Conflicting Classifications

CA064328

rs_377446096

2 SubmittersRCV000653797 RCV002493052

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

Criteria Provided
Conflicting Classifications

CA064232

rs_762288656

5 SubmittersRCV000653792 RCV001108129 RCV000709154 RCV000988523 RCV001108130 RCV003442007

NM_000540.3(RYR1):c.7261G>T (p.Ala2421Ser)

SNV
Germline

Chr19:38499954

Conflicting classifications of pathogenicity

RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
Condition: not provided
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion
Central core myopathy
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA069413

rs_193922808

6 SubmittersRCV000655593 RCV001125555 RCV001125554 RCV002275123 RCV002507140

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 multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion
Central core myopathy
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA074235

rs_201276068

5 SubmittersRCV000655563 RCV000721760 RCV002307581 RCV002499131

NM_000377.3(WAS):c.271C>T (p.Gln91Ter)

SNV
Germline

ChrX:48684421

Pathogenic

X-linked severe congenital neutropenia
Thrombocytopenia 1
Wiskott-Aldrich syndrome

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

X-linked severe congenital neutropenia
Thrombocytopenia 1
Wiskott-Aldrich syndrome
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

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

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

rs_864622153

4 SubmittersRCV000657688 RCV000705277 RCV002397335 RCV003451603

NM_000179.3(MSH6):c.1921G>T (p.Glu641Ter)

SNV
Germline

Chr2:47799904

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553413305

4 SubmittersRCV000657743 RCV001013705 RCV001386205 RCV003451608

NM_000249.4(MLH1):c.1546C>T (p.Gln516Ter)

SNV
Germline

Chr3:37028920

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553653195

7 SubmittersRCV000791767 RCV001012049 RCV000657574 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

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

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
SUDDEN INFANT DEATH SYNDROME
Hypertrophic cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_760978512

6 SubmittersRCV000658349 RCV001177934 RCV001788314 RCV001855374 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

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
X-linked severe congenital neutropenia
Wiskott-Aldrich syndrome
Thrombocytopenia 1

Criteria Provided
Conflicting Classifications

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

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

rs_1060502929

3 SubmittersRCV000659886 RCV003362884 RCV004004199

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

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

rs_1057520700

1 SubmittersRCV000714956

NM_000251.3(MSH2):c.354T>G (p.Tyr118Ter)

SNV
Germline

Chr2:47408543

Pathogenic/Likely pathogenic

Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

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

rs_753237286

8 SubmittersRCV000662549 RCV001019794 RCV001229515 RCV001584524 RCV004004205

NM_000251.3(MSH2):c.1760-10T>A

SNV
Germline

Chr2:47475015

Conflicting classifications of pathogenicity

Lynch syndrome 1
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_767536391

6 SubmittersRCV000662919 RCV000838618 RCV001444969 RCV003584700

NM_000179.3(MSH6):c.309C>A (p.Tyr103Ter)

SNV
Germline

Chr2:47790975

Pathogenic/Likely pathogenic

Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

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

rs_1553333039

3 SubmittersRCV000662575 RCV003163050

NM_000535.7(PMS2):c.2276-2A>C

SNV
Unknown

Chr7:5977759

Likely pathogenic

Lynch syndrome 4

Criteria Provided
Single Submitter

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

Criteria Provided
Conflicting Classifications

rs_758225108

7 SubmittersRCV000662652 RCV001244703 RCV001797773 RCV002255499

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

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
Lynch syndrome 4
Hereditary nonpolyposis colorectal neoplasms
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

rs_1304634005

9 SubmittersRCV000772030 RCV000662640 RCV001061729 RCV001358228 RCV001030721 RCV004004206

NM_000251.3(MSH2):c.1832T>A (p.Val611Glu)

SNV
Germline

Chr2:47475097

Likely pathogenic

Lynch syndrome

Criteria Provided
Single Submitter

rs_1553368590

1 SubmittersRCV000664317

NM_022552.5(DNMT3A):c.2086C>T (p.Gln696Ter)

SNV
Germline

Chr2:25240727

Likely pathogenic

Tatton-Brown-Rahman overgrowth syndrome

No Assertion Criteria Provided

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

rs_1553412485

1 SubmittersRCV000677682

NM_000540.3(RYR1):c.7836-1G>A

SNV
Germline

Chr19:38502879

Likely pathogenic

Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion
Central core myopathy
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1
RYR1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_1568507354

3 SubmittersRCV000678325 RCV002493120 RCV003591771

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

rs_772491283

4 SubmittersRCV000679302 RCV001014370 RCV001226997 RCV003459650

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
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion
Central core myopathy
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

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

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

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

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

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

rs_587779950

2 SubmittersRCV000680196 RCV002331313

NM_000249.4(MLH1):c.923A>C (p.His308Pro)

SNV
Germline

Chr3:37020348

Likely pathogenic

Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

rs_1559543768

3 SubmittersRCV000680200 RCV001861879 RCV002369811

NM_000535.7(PMS2):c.706-2A>T

SNV
Germline

Chr7:5997425

Likely pathogenic

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4

Criteria Provided
Single Submitter

rs_745487791

3 SubmittersRCV000681963 RCV001379300 RCV003485629

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

rs_878853797

4 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
Breast carcinoma
Ependymoma
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

rs_63750126

5 SubmittersRCV000685129 RCV001554318 RCV002286419 RCV002331318 RCV003992370

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

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

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
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

rs_1060502015

4 SubmittersRCV000695223 RCV002473115 RCV003303146 RCV003460939

NM_000179.3(MSH6):c.394C>T (p.Gln132Ter)

SNV
Germline

Chr2:47791060

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

rs_587782101

3 SubmittersRCV000699082 RCV002352177 RCV003485632

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

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

rs_751707090

2 SubmittersRCV000696563

NM_014159.7(SETD2):c.1414C>T (p.Arg472Cys)

SNV
Germline

Chr3:47123222

Conflicting classifications of pathogenicity

Luscan-Lumish syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_771203643

3 SubmittersRCV000703479 RCV003362914

NM_000251.3(MSH2):c.598G>A (p.Val200Ile)

SNV
Germline

Chr2:47410325

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

rs_1558459684

5 SubmittersRCV000694159 RCV001771962 RCV003999611 RCV002352150 RCV004569320

NM_000251.3(MSH2):c.1013G>T (p.Gly338Val)

SNV
Germline

Chr2:47416366

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

rs_587779065

4 SubmittersRCV000689433 RCV001269518 RCV002352132 RCV003453433

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

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

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
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

rs_1558661932

6 SubmittersRCV000697076 RCV002307598 RCV002388276 RCV004569339 RCV003999663

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

rs_878853704

2 SubmittersRCV000706233 RCV003453502

NM_000179.3(MSH6):c.2386G>T (p.Glu796Ter)

SNV
Germline

Chr2:47800369

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1558665297

3 SubmittersRCV000695381 RCV003453460 RCV002424656

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

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

Criteria Provided
Conflicting Classifications

rs_1316409501

5 SubmittersRCV000704717 RCV001524596 RCV003453499

NM_000251.3(MSH2):c.11A>C (p.Gln4Pro)

SNV
Germline

Chr2:47403202

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

rs_754562075

5 SubmittersRCV000699823 RCV001771985 RCV001010272 RCV003460965

NM_000251.3(MSH2):c.576C>G (p.Ile192Met)

SNV
Germline

Chr2:47410303

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

rs_864622381

5 SubmittersRCV001175679 RCV000702160 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

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

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

rs_377115716

3 SubmittersRCV000691007 RCV002544899 RCV003437397

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

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

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1562605623

3 SubmittersRCV000706835 RCV003453507

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

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1562669585

5 SubmittersRCV000700344 RCV001784337 RCV002422563 RCV003453480

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

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

rs_1060500702

3 SubmittersRCV000696093 RCV000781989 RCV002332456

NM_000249.4(MLH1):c.1279C>T (p.Gln427Ter)

SNV
Germline

Chr3:37025877

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1559553501

5 SubmittersRCV000692188 RCV002307594 RCV003453448 RCV003999578 RCV002386200

NM_000535.7(PMS2):c.1771T>C (p.Cys591Arg)

SNV
Germline

Chr7:5986994

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
not specified

Criteria Provided
Conflicting Classifications

rs_764252217

6 SubmittersRCV000772031 RCV000693132 RCV001358468 RCV001816711

NM_000535.7(PMS2):c.251-1G>T

SNV
Germline

Chr7:6003793

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_764171734

3 SubmittersRCV000689815 RCV003453438 RCV002424609

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

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

rs_1562604682

4 SubmittersRCV000702280 RCV002442511 RCV003453491 RCV003420251

NM_000535.7(PMS2):c.804-1G>A

SNV
Germline/somatic

Chr7:5995634

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

rs_1562664845

5 SubmittersRCV000694626 RCV001027099 RCV000758693 RCV003453458

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

rs_1562678257

5 SubmittersRCV000696743 RCV000777285 RCV003231588 RCV003453466

NM_000540.3(RYR1):c.14869-5C>G

SNV
Germline

Chr19:38586086

Conflicting classifications of pathogenicity

RYR1-related disorder
King Denborough syndrome
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Congenital myopathy with fiber type disproportion
Congenital multicore myopathy with external ophthalmoplegia

Criteria Provided
Conflicting Classifications

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
King Denborough syndrome
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

Criteria Provided
Conflicting Classifications

rs_146754847

6 SubmittersRCV000693319 RCV000721454 RCV002477569 RCV003999596

NM_000540.3(RYR1):c.4444G>A (p.Val1482Ile)

SNV
Germline

Chr19:38477860

Conflicting classifications of pathogenicity

RYR1-related disorder
Central core myopathy
Congenital myopathy with fiber type disproportion
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
Congenital multicore myopathy with external ophthalmoplegia
Condition: not provided
Inborn genetic diseases
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

rs_747718728

6 SubmittersRCV000693287 RCV002477568 RCV003130003 RCV002531464 RCV003999595

NM_000377.3(WAS):c.734+2T>A

SNV
Germline

ChrX:48686957

Pathogenic

Thrombocytopenia 1
Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia

Criteria Provided
Single Submitter

rs_1569493877

1 SubmittersRCV000700442

NM_000179.3(MSH6):c.2665C>T (p.Gln889Ter)

SNV
Germline

Chr2:47800648

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1558666177

5 SubmittersRCV000708612 RCV003453510 RCV003758910 RCV003999789

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

Criteria Provided
Conflicting Classifications

rs_766177007

5 SubmittersRCV000708735 RCV000872839 RCV003999790

NM_000251.3(MSH2):c.2012A>G (p.Asn671Ser)

SNV
Germline

Chr2:47476373

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

rs_1558519505

4 SubmittersRCV000708839 RCV001014077 RCV001064045

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
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_876659736

5 SubmittersRCV000987842 RCV001046149 RCV001188465 RCV003156288

NM_024426.6(WT1):c.649A>G (p.Ile217Val)

SNV
Germline

Chr11:32434712

Conflicting classifications of pathogenicity

Wilms tumor 1
Wilms tumor 1
11p partial monosomy syndrome
Drash syndrome
Frasier syndrome

Criteria Provided
Conflicting Classifications

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

rs_1565001383

1 SubmittersRCV000988519

NM_002495.4(NDUFS4):c.355G>C (p.Asp119His)

SNV
Germline

Chr5:53658555

Conflicting classifications of pathogenicity

Mitochondrial complex I deficiency
Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_747359752

4 SubmittersRCV000714799 RCV000714800 RCV002532977 RCV003558540

NM_000540.3(RYR1):c.2287G>A (p.Val763Met)

SNV
Germline

Chr19:38459265

Conflicting classifications of pathogenicity

Condition: not provided
King Denborough syndrome
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Congenital myopathy with fiber type disproportion
RYR1-related disorder

Criteria Provided
Conflicting Classifications

rs_369947687

4 SubmittersRCV000721445 RCV002493286 RCV002533063

NM_000540.3(RYR1):c.5314A>G (p.Arg1772Gly)

SNV
Germline

Chr19:38485969

Conflicting classifications of pathogenicity

Condition: not provided
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

Criteria Provided
Conflicting Classifications

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
King Denborough syndrome
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Congenital myopathy with fiber type disproportion
RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

rs_372702492

4 SubmittersRCV000721725 RCV002485829 RCV003768164 RCV003999866

NM_000540.3(RYR1):c.9892G>A (p.Ala3298Thr)

SNV
Germline

Chr19:38517565

Conflicting classifications of pathogenicity

Condition: not provided
RYR1-related disorder
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1
Congenital myopathy with fiber type disproportion
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy

Criteria Provided
Conflicting Classifications

rs_544339193

4 SubmittersRCV000721762 RCV001312367 RCV002485830

NM_000540.3(RYR1):c.13180G>A (p.Glu4394Lys)

SNV
Germline

Chr19:38565514

Conflicting classifications of pathogenicity

Condition: not provided
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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_748844266

6 SubmittersRCV000721305 RCV001362581 RCV002507264 RCV004026924

NM_000540.3(RYR1):c.14173-2A>G

SNV
Germline

Chr19:38577916

Conflicting classifications of pathogenicity

Condition: not provided
RYR1-related disorder
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1
Congenital myopathy with fiber type disproportion
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

rs_1189024951

6 SubmittersRCV000721355 RCV000814221 RCV002499325 RCV003999821

NM_015272.5(RPGRIP1L):c.583A>T (p.Lys195Ter)

SNV
Germline

Chr16:53687912

Pathogenic/Likely pathogenic

Condition: not provided
Familial aplasia of the vermis
Meckel-Gruber syndrome
Familial aplasia of the vermis
Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

rs_1277577195

5 SubmittersRCV000722572 RCV000812456 RCV001273840 RCV002507274

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

rs_772475005

2 SubmittersRCV000729020 RCV003645873

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

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
Familial aplasia of the vermis
Meckel-Gruber syndrome
COACH syndrome 3
Joubert syndrome 7
Meckel syndrome, type 5
RPGRIP1L-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_1037406858

4 SubmittersRCV000732387 RCV001855682 RCV002485914 RCV004535855

NM_024426.6(WT1):c.1388G>A (p.Arg463Gln)

SNV
Germline

Chr11:32392031

Conflicting classifications of pathogenicity

Nephrotic syndrome, type 4
Frasier syndrome
Drash syndrome
Wilms tumor 1
11p partial monosomy syndrome
8 conditions
Focal segmental glomerulosclerosis
Drash syndrome

Criteria Provided
Conflicting Classifications

rs_1037084691

6 SubmittersRCV000735697 RCV001302945 RCV001535956 RCV001195711 RCV003338777

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

rs_782609482

5 SubmittersRCV000735985 RCV000781906 RCV002272341 RCV001784364

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

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
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

rs_63750832

4 SubmittersRCV000755028 RCV002282352 RCV003453537 RCV002536550

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

rs_587779294

2 SubmittersRCV000755029 RCV002352259

NC_012920.1(MT-ND4L):m.10644G>A

SNV
Germline

ChrMT:10644

Conflicting classifications of pathogenicity

Condition: not provided
Leigh syndrome

Criteria Provided
Conflicting Classifications

rs_1569484385

2 SubmittersRCV000756358 RCV000854667

NC_012920.1(MT-ND4):m.10931T>C

SNV
Germline

ChrMT:10931

Conflicting classifications of pathogenicity

Condition: not provided
Leigh syndrome

Criteria Provided
Conflicting Classifications

rs_1569484408

2 SubmittersRCV000757487 RCV000854693

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

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

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

Criteria Provided
Conflicting Classifications

rs_587781617

3 SubmittersRCV000758661 RCV003768276 RCV004027162

NM_000251.3(MSH2):c.2095T>C (p.Ser699Pro)

SNV
Germline/somatic

Chr2:47476456

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1428704795

2 SubmittersRCV000758655 RCV004027161

NM_000251.3(MSH2):c.2360T>G (p.Leu787Arg)

SNV
Germline/somatic

Chr2:47478421

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary nonpolyposis colon cancer
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

rs_1558521929

4 SubmittersRCV000758593 RCV001269395 RCV002442567 RCV003453545

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

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

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

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

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
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

rs_1558661242

3 SubmittersRCV001194364 RCV002533819 RCV000758621

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

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

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

Criteria Provided
Conflicting Classifications

rs_752212361

4 SubmittersRCV000758614 RCV001175727 RCV003453547

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

rs_267608125

2 SubmittersRCV000758627 RCV001805839

NM_000179.3(MSH6):c.3964G>A (p.Glu1322Lys)

SNV
Germline/somatic

Chr2:47806614

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

rs_1553333707

2 SubmittersRCV001021540 RCV000758616

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

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

rs_72481822

2 SubmittersRCV000758583 RCV001249905

NM_000249.4(MLH1):c.100G>A (p.Glu34Lys)

SNV
Germline/somatic

Chr3:36993647

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

rs_1559500884

3 SubmittersRCV001016980 RCV000758634 RCV003594028

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

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_63751109

2 SubmittersRCV000758568 RCV002386318

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

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

rs_1559591546

2 SubmittersRCV000758636 RCV001855909

NM_000535.7(PMS2):c.2075A>G (p.Asn692Ser)

SNV
Germline/somatic

Chr7:5982923

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

rs_1562615666

2 SubmittersRCV003584736 RCV000758681

NM_000535.7(PMS2):c.195T>C (p.Leu65=)

SNV
Germline/somatic

Chr7:6004027

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_780080040

3 SubmittersRCV000758632 RCV002422641

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

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

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

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

Criteria Provided
Conflicting Classifications

rs_267607988

4 SubmittersRCV000758657 RCV001187975 RCV003453554

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

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

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

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

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

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
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Multiple Submitters
No Conflicts

rs_267607745

3 SubmittersRCV000758639 RCV002352267 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

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

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

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_267607771

3 SubmittersRCV000758644 RCV003453553 RCV004027160

NM_000249.4(MLH1):c.2104-1G>A

SNV
Germline/somatic

Chr3:37050485

Pathogenic/Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch-like syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_587778978

4 SubmittersRCV000758582 RCV001211814 RCV001249940 RCV002422640

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

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
Hereditary cancer-predisposing syndrome
Lynch syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

rs_63751097

7 SubmittersRCV000759849 RCV001061933 RCV001805840 RCV003999908 RCV003453560

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

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

rs_587782408

3 SubmittersRCV000759123 RCV002422644 RCV003453556

NM_000535.7(PMS2):c.1144+1G>C

SNV
Germline

Chr7:5989799

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_373885654

4 SubmittersRCV000759912 RCV001378056 RCV003303232 RCV003453563

NM_022552.5(DNMT3A):c.2525A>G (p.Gln842Arg)

SNV
Germline

Chr2:25235779

Likely pathogenic

Tatton-Brown-Rahman overgrowth syndrome
Acute myeloid leukemia

Criteria Provided
Single Submitter

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

rs_759380437

1 SubmittersRCV000760251

NM_000535.7(PMS2):c.730C>T (p.Gln244Ter)

SNV
Germline

Chr7:5997399

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_1562671039

7 SubmittersRCV000760335 RCV001026254 RCV001221708 RCV003453566

NM_015272.5(RPGRIP1L):c.2451C>G (p.Tyr817Ter)

SNV
Germline

Chr16:53645857

Pathogenic/Likely pathogenic

Condition: not provided
Familial aplasia of the vermis
Meckel-Gruber syndrome
Meckel syndrome, type 5
COACH syndrome 3
Joubert syndrome 7

Criteria Provided
Multiple Submitters
No Conflicts

rs_145807002

3 SubmittersRCV000760815 RCV001869036 RCV002485971

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

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

rs_1564969626

1 SubmittersRCV000761347

NM_001379500.1(COL18A1):c.3809+2T>C

SNV
Germline

Chr21:45511228

Conflicting classifications of pathogenicity

Knobloch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

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

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
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

rs_1060502002

6 SubmittersRCV000777440 RCV000802482 RCV002245663 RCV004001498 RCV004569481

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

rs_368982417

5 SubmittersRCV000771481 RCV001044734 RCV003492163 RCV003999955

NM_000251.3(MSH2):c.2439G>C (p.Met813Ile)

SNV
Germline

Chr2:47478500

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Malignant tumor of breast
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

rs_587781678

6 SubmittersRCV000807280 RCV000777250 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

rs_35819209

3 SubmittersRCV000774981 RCV004001424

NM_000179.3(MSH6):c.1097A>G (p.Tyr366Cys)

SNV
Germline

Chr2:47799080

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

rs_1482767334

4 SubmittersRCV000773039 RCV001065372 RCV001175269

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

Criteria Provided
Conflicting Classifications

rs_267608129

6 SubmittersRCV000773996 RCV000780474 RCV002067281 RCV003478463 RCV004001341

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

Criteria Provided
Conflicting Classifications

rs_528499793

6 SubmittersRCV000775365 RCV000938343 RCV001086951 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

rs_1562651617

2 SubmittersRCV000776748 RCV003461041

NM_000179.3(MSH6):c.261-6C>G

SNV
Germline

Chr2:47790921

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

rs_1558651835

4 SubmittersRCV000772888 RCV002067257 RCV001789783

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

rs_267607884

5 SubmittersRCV000772614 RCV001036557 RCV001310199 RCV002477757

NM_078470.6(COX15):c.784C>T (p.Arg262Ter)

SNV
Germline

Chr10:99721035

Conflicting classifications of pathogenicity

Leigh syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_774366079

2 SubmittersRCV000778265 RCV002535631

NM_014159.7(SETD2):c.4997A>G (p.Tyr1666Cys)

SNV
Germline

Chr3:47101476

Pathogenic/Likely pathogenic

Genetic syndrome with a Dandy-Walker malformation as major feature
Luscan-Lumish syndrome
Ventriculomegaly
Dandy-Walker syndrome

No Assertion Criteria Provided

rs_1559720382

2 SubmittersRCV000779642 RCV001258008

NM_000251.3(MSH2):c.1819A>G (p.Ser607Gly)

SNV
Germline

Chr2:47475084

Conflicting classifications of pathogenicity

not specified
Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

rs_772991620

4 SubmittersRCV000780460 RCV003461053 RCV002406710 RCV002535673

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

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

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

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

Reviewed By Expert Panel

rs_772491283

2 SubmittersRCV000781997 RCV001014369

NM_000179.3(MSH6):c.1252T>C (p.Ser418Pro)

SNV
Germline

Chr2:47799235

Likely pathogenic

Lynch syndrome

Reviewed By Expert Panel

rs_1251033858

1 SubmittersRCV000781998

NM_000179.3(MSH6):c.1439T>A (p.Val480Glu)

SNV
Germline

Chr2:47799422

Pathogenic

Lynch syndrome

Reviewed By Expert Panel

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

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

rs_1481129490

4 SubmittersRCV000782000 RCV001024107 RCV003453615

NM_003172.4(SURF1):c.504C>A (p.Cys168Ter)

SNV
Germline

Chr9:133353760

Likely pathogenic

Leigh syndrome

Criteria Provided
Single Submitter

rs_1564349087

1 SubmittersRCV000785948

NM_000251.3(MSH2):c.2211-1G>A

SNV
Germline

Chr2:47478271

Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_267607979

6 SubmittersRCV001378014 RCV000786796 RCV002424783 RCV003453621 RCV004001545

NM_000321.3(RB1):c.273T>A (p.Tyr91Ter)

SNV
Germline

Chr13:48342607

Likely pathogenic

Lynch syndrome 4

No Assertion Criteria Provided

rs_750136284

1 SubmittersRCV000786881

NM_000535.7(PMS2):c.451C>G (p.Arg151Gly)

SNV
Germline

Chr7:6002539

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

rs_758561884

4 SubmittersRCV000993767 RCV001022626 RCV002535819 RCV003467323

NM_000377.3(WAS):c.735-2A>G

SNV
Germline

ChrX:48688052

Pathogenic

Wiskott-Aldrich syndrome

No Assertion Criteria Provided

rs_1602178800

1 SubmittersRCV000791261

NM_000179.3(MSH6):c.619G>T (p.Glu207Ter)

SNV
Germline

Chr2:47796055

Likely pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

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

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

rs_1395575712

1 SubmittersRCV000812887

NM_022552.5(DNMT3A):c.2309C>T (p.Ser770Leu)

SNV
Germline

Chr2:25240315

Conflicting classifications of pathogenicity

Tatton-Brown-Rahman overgrowth syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

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

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
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

rs_146017810

3 SubmittersRCV000809070 RCV003307495 RCV004001707

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

Criteria Provided
Conflicting Classifications

rs_1320061495

4 SubmittersRCV000805682 RCV001024434 RCV002291700

NM_000251.3(MSH2):c.198C>A (p.Tyr66Ter)

SNV
Germline/somatic

Chr2:47403389

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch-like syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_730881784

4 SubmittersRCV000799705 RCV001013932 RCV001250031 RCV003453663

NM_000251.3(MSH2):c.242G>A (p.Ser81Asn)

SNV
Germline

Chr2:47408431

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Mismatch repair cancer syndrome 2
Lynch syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1064793491

3 SubmittersRCV000824404 RCV003483745 RCV002453906

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
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

rs_1573436418

3 SubmittersRCV000820762 RCV003307549 RCV004569757

NM_000251.3(MSH2):c.832G>T (p.Glu278Ter)

SNV
Germline

Chr2:47414308

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1558464008

4 SubmittersRCV000794209 RCV001017577 RCV001811486 RCV003453641

NM_000251.3(MSH2):c.998G>T (p.Cys333Phe)

SNV
Germline

Chr2:47416351

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_63750828

4 SubmittersRCV000791505 RCV002249499 RCV002386370

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

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

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

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

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

rs_1573574086

3 SubmittersRCV000820262 RCV002427049 RCV003453724

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

rs_1573579206

3 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

rs_1276159036

2 SubmittersRCV000808014 RCV004028636

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

rs_1553412720

2 SubmittersRCV000815858 RCV003453715

NM_000179.3(MSH6):c.2282G>C (p.Arg761Thr)

SNV
Germline

Chr2:47800265

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome 5
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_587779233

6 SubmittersRCV001190571 RCV000793348 RCV001193700 RCV001257482 RCV003314645

NM_000179.3(MSH6):c.2295C>A (p.Cys765Ter)

SNV
Germline

Chr2:47800278

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Condition: not provided
Endometrial carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

rs_63750985

6 SubmittersRCV001184647 RCV000806058 RCV003453682 RCV003489898 RCV004569629

NM_000179.3(MSH6):c.2426T>C (p.Val809Ala)

SNV
Germline

Chr2:47800409

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_775815297

3 SubmittersRCV000812013 RCV001257480 RCV002453838

NM_000179.3(MSH6):c.2982C>G (p.Tyr994Ter)

SNV
Germline

Chr2:47800965

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_367758473

3 SubmittersRCV000803777 RCV003453677 RCV002440701

NM_000179.3(MSH6):c.3021G>A (p.Trp1007Ter)

SNV
Germline

Chr2:47801004

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Endometrial carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

rs_587779253

4 SubmittersRCV000811578 RCV002440757 RCV003453698 RCV004569673

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

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

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

rs_63751662

3 SubmittersRCV000791765 RCV002422677 RCV004001556

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

rs_769791652

2 SubmittersRCV000816979 RCV002534913

NM_004168.4(SDHA):c.1781G>A (p.Arg594Lys)

SNV
Germline

Chr5:251455

Conflicting classifications of pathogenicity

Leigh syndrome
Mitochondrial complex II deficiency, nuclear type 1
Paragangliomas 5
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1302547655

3 SubmittersRCV001089548 RCV000803949 RCV003338812

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

rs_1554292741

4 SubmittersRCV000819801 RCV002427044 RCV003315255 RCV003453723

NM_000535.7(PMS2):c.478C>T (p.Gln160Ter)

SNV
Germline

Chr7:6002512

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_36038802

4 SubmittersRCV000814188 RCV002332681 RCV003453711

NM_024426.6(WT1):c.1499G>A (p.Arg500Gln)

SNV
Germline

Chr11:32389128

Pathogenic

Drash syndrome
Frasier syndrome
Wilms tumor 1
11p partial monosomy syndrome
Drash syndrome

Criteria Provided
Single Submitter

rs_1590326226

2 SubmittersRCV000822133 RCV003446461

NM_024426.6(WT1):c.882C>A (p.Tyr294Ter)

SNV
Germline

Chr11:32427961

Pathogenic

Drash syndrome
Wilms tumor 1
11p partial monosomy syndrome
Frasier syndrome

Criteria Provided
Single Submitter

rs_1554945031

1 SubmittersRCV000799020

NM_000540.3(RYR1):c.2984G>A (p.Trp995Ter)

SNV
Germline

Chr19:38466204

Conflicting classifications of pathogenicity

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
Condition: not provided
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

rs_1440262870

4 SubmittersRCV000811818 RCV002495127 RCV003141824 RCV004001735

NM_000377.3(WAS):c.266G>A (p.Gly89Asp)

SNV
Germline

ChrX:48684416

Conflicting classifications of pathogenicity

Thrombocytopenia 1
Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_139857045

2 SubmittersRCV000812382 RCV003480857

NM_000377.3(WAS):c.355G>T (p.Gly119Ter)

SNV
Germline

ChrX:48685628

Pathogenic

Thrombocytopenia 1
X-linked severe congenital neutropenia
Wiskott-Aldrich syndrome

Criteria Provided
Single Submitter

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

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

rs_559534512

3 SubmittersRCV000819867 RCV001776038 RCV003928284

NM_000179.3(MSH6):c.458-1G>T

SNV
Germline

Chr2:47795893

Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

rs_267608035

2 SubmittersRCV000803405 RCV003453672

NM_000179.3(MSH6):c.3556+1G>T

SNV
Germline

Chr2:47805028

Pathogenic/Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 5
Gastric cancer

Criteria Provided
Multiple Submitters
No Conflicts

rs_1060502926

5 SubmittersRCV000826201 RCV000800963 RCV001574493 RCV003453666 RCV003166197

NM_000179.3(MSH6):c.627+1G>A

SNV
Germline

Chr2:47796064

Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

rs_1572716545

2 SubmittersRCV000798211 RCV003453653

NM_000535.7(PMS2):c.2275+1G>C

SNV
Germline

Chr7:5978595

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_1554294393

5 SubmittersRCV000823059 RCV002442765 RCV003453733

NM_018344.6(SLC29A3):c.611-1G>T

SNV
Germline

Chr10:71356080

Likely pathogenic

H syndrome

Criteria Provided
Single Submitter

rs_139857136

1 SubmittersRCV000816718

NM_024426.6(WT1):c.965+1G>A

SNV
Germline

Chr11:32417576

Likely pathogenic

Wilms tumor 1
11p partial monosomy syndrome
Drash syndrome
Frasier syndrome
Condition: not provided
Wilms tumor 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_771527206

3 SubmittersRCV000819469 RCV001784448 RCV004001822

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

Criteria Provided
Conflicting Classifications

rs_1455790542

2 SubmittersRCV000819616 RCV002249530

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

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 nonpolyposis colorectal neoplasms
Lynch syndrome 5
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_746306598

4 SubmittersRCV000825599 RCV002536057 RCV003453747 RCV002427080

NM_000179.3(MSH6):c.3952A>T (p.Arg1318Ter)

SNV
Germline

Chr2:47806602

Pathogenic/Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

rs_1572747685

4 SubmittersRCV000826178 RCV002352477 RCV003594042 RCV003453759

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

rs_771752014

2 SubmittersRCV000825517 RCV001869266

NC_012920.1(MT-ATP6):m.9035T>C

SNV
Germline

ChrMT:9035

Likely pathogenic

Progressive cerebellar ataxia
Leigh syndrome
See cases
Leber optic atrophy
Mitochondrial disease
MT-ATP6-related primary mitochondrial disease

Reviewed By Expert Panel

rs_1603222000

7 SubmittersRCV000851177 RCV000854406 RCV001196557 RCV002249546 RCV002260672 RCV002466594

NC_012920.1(MT-ND5):m.13063G>A

SNV
Germline

ChrMT:13063

Pathogenic/Likely pathogenic

Leigh syndrome
Leber optic atrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_1603224017

2 SubmittersRCV000854888 RCV002249551

NC_012920.1(MT-CO1):m.6526T>C

SNV
Germline

ChrMT:6526

Likely pathogenic

Leigh syndrome

Criteria Provided
Single Submitter

rs_1603220522

1 SubmittersRCV000853981

NC_012920.1(MT-CO2):m.7746A>G

SNV
Germline

ChrMT:7746

Conflicting classifications of pathogenicity

Leigh syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1603221113

2 SubmittersRCV000854095 RCV000992351

NC_012920.1(MT-ATP6):m.8783G>A

SNV
Germline

ChrMT:8783

Pathogenic/Likely pathogenic

Leigh syndrome
Leber optic atrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_1603221804

2 SubmittersRCV000854322 RCV002249549

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

rs_1603222011

2 SubmittersRCV000854410 RCV000993792

NC_012920.1(MT-ATP6):m.9134A>G

SNV
Germline

ChrMT:9134

Likely pathogenic

Leigh syndrome

Criteria Provided
Single Submitter

rs_1603222119

1 SubmittersRCV000854453

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

rs_1572728898

2 SubmittersRCV000856619 RCV002434052

NM_000179.3(MSH6):c.3804A>G (p.Ala1268=)

SNV
Germline

Chr2:47806454

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

rs_1572746044

5 SubmittersRCV001021193 RCV000862856 RCV001193727 RCV004002921

NM_024426.6(WT1):c.569C>T (p.Pro190Leu)

SNV
Germline

Chr11:32434792

Conflicting classifications of pathogenicity

Drash syndrome
Frasier syndrome
Wilms tumor 1
11p partial monosomy syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_757349907

2 SubmittersRCV002064470 RCV002538928

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

rs_373524969

2 SubmittersRCV000865882 RCV001816974

NM_000540.3(RYR1):c.46-4G>A

SNV
Germline

Chr19:38440741

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
Malignant hyperthermia, susceptibility to, 1
RYR1-related disorder

Criteria Provided
Conflicting Classifications

rs_201094741

4 SubmittersRCV004002997 RCV002487901 RCV000867181

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

rs_141425824

3 SubmittersRCV000874503 RCV001593100

NM_024426.6(WT1):c.1008G>A (p.Gly336=)

SNV
Germline

Chr11:32416498

Conflicting classifications of pathogenicity

Drash syndrome
Wilms tumor 1
11p partial monosomy syndrome
Frasier syndrome
Condition: not provided
Wilms tumor 1

Criteria Provided
Conflicting Classifications

rs_1369099437

3 SubmittersRCV000873532 RCV003325526 RCV004003088

NM_006941.4(SOX10):c.274G>C (p.Val92Leu)

SNV
Germline

Chr22:37983511

Conflicting classifications of pathogenicity

PCWH syndrome
Hearing impairment
Waardenburg syndrome
Condition: not provided
SOX10-related disorder

Criteria Provided
Conflicting Classifications

rs_142113652

6 SubmittersRCV001146314 RCV001375097 RCV001146313 RCV000871484 RCV004540232

NM_014159.7(SETD2):c.5829C>G (p.Asn1943Lys)

SNV
Germline

Chr3:47083951

Conflicting classifications of pathogenicity

Luscan-Lumish syndrome

Criteria Provided
Conflicting Classifications

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

rs_199523495

3 SubmittersRCV000949107 RCV001141916

NM_022552.5(DNMT3A):c.187G>A (p.Gly63Ser)

SNV
Germline

Chr2:25282702

Conflicting classifications of pathogenicity

Tatton-Brown-Rahman overgrowth syndrome
DNMT3A-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_781108426

3 SubmittersRCV002547289 RCV003943135 RCV003886459

NM_004168.4(SDHA):c.1977A>G (p.Pro659=)

SNV
Germline

Chr5:256402

Conflicting classifications of pathogenicity

Paragangliomas 5
Mitochondrial complex II deficiency, nuclear type 1
Hereditary cancer-predisposing syndrome
Hereditary pheochromocytoma-paraganglioma
Leigh syndrome
Mitochondrial complex II deficiency, nuclear type 1

Criteria Provided
Conflicting Classifications

rs_768693502

3 SubmittersRCV000887554 RCV001013815 RCV001158014 RCV001158015 RCV001158016

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

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

rs_2231682

4 SubmittersRCV000898890 RCV001108828 RCV003950526

NM_024426.6(WT1):c.402G>A (p.Pro134=)

SNV
Germline

Chr11:32434959

Conflicting classifications of pathogenicity

Wilms tumor 1
Nephrotic syndrome, type 4
Wilms tumor 1
11p partial monosomy syndrome
Drash syndrome
Frasier syndrome
Meacham syndrome
not specified

Criteria Provided
Conflicting Classifications

rs_777527675

3 SubmittersRCV001104628 RCV001104629 RCV000894878 RCV001107374 RCV003117641

NM_007103.4(NDUFV1):c.597C>T (p.Arg199=)

SNV
Germline

Chr11:67610467

Conflicting classifications of pathogenicity

Condition: not provided
Mitochondrial complex I deficiency, nuclear type 1
Leigh syndrome

Criteria Provided
Conflicting Classifications

rs_151104852

3 SubmittersRCV000898339 RCV001103034 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

rs_376145746

3 SubmittersRCV000906371 RCV001124445 RCV001124446 RCV004531046

NM_001303.4(COX10):c.260C>T (p.Thr87Ile)

SNV
Germline

Chr17:14076817

Conflicting classifications of pathogenicity

Condition: not provided
Mitochondrial complex IV deficiency, nuclear type 1
Leigh syndrome

Criteria Provided
Conflicting Classifications

rs_144000161

3 SubmittersRCV000899247 RCV001127734 RCV001127733

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

rs_200226880

2 SubmittersRCV000908897 RCV001150502 RCV001150503

NM_022552.5(DNMT3A):c.448+7C>T

SNV
Germline

Chr2:25282434

Conflicting classifications of pathogenicity

Tatton-Brown-Rahman overgrowth syndrome
DNMT3A-related disorder

Criteria Provided
Conflicting Classifications

rs_773465605

2 SubmittersRCV003584776 RCV003950451

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

rs_1553370386

4 SubmittersRCV000917330 RCV001015910 RCV001142094

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

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

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

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
Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 1

Criteria Provided
Conflicting Classifications

rs_142658611

6 SubmittersRCV000923575 RCV001103232 RCV001103233

NM_000179.3(MSH6):c.195A>G (p.Ser65=)

SNV
Germline

Chr2:47783428

Conflicting classifications of pathogenicity

Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

rs_1572698398

2 SubmittersRCV000932608 RCV004003249

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

Criteria Provided
Conflicting Classifications

rs_1057523564

3 SubmittersRCV000938012 RCV001015548 RCV004003299

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

Criteria Provided
Conflicting Classifications

rs_1405000889

4 SubmittersRCV000939147 RCV000986704 RCV001023729 RCV003478590

NM_000179.3(MSH6):c.1902G>A (p.Leu634=)

SNV
Germline

Chr2:47799885

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

rs_1572724876

5 SubmittersRCV001422530 RCV002409244 RCV002265911 RCV003478591 RCV004004320

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
Lynch syndrome

Criteria Provided
Conflicting Classifications

rs_779148982

4 SubmittersRCV001023599 RCV001394957 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

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

rs_199543540

3 SubmittersRCV000944245 RCV001279574

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

rs_373404056

3 SubmittersRCV000978966 RCV003906103

NM_000377.3(WAS):c.1049C>T (p.Ala350Val)

SNV
Germline

ChrX:48688777

Conflicting classifications of pathogenicity

Thrombocytopenia 1
Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_1307143057

2 SubmittersRCV001484626 RCV003307780

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

rs_778120270

4 SubmittersRCV000984085 RCV001090022 RCV002508273

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

Criteria Provided
Conflicting Classifications

rs_1242136178

3 SubmittersRCV000985783 RCV002067570 RCV004004414

NM_005006.7(NDUFS1):c.1256G>A (p.Arg419Gln)

SNV
Germline

Chr2:206141947

Conflicting classifications of pathogenicity

Leigh syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_776114731

2 SubmittersRCV000986982 RCV001858657

NM_005006.7(NDUFS1):c.518T>G (p.Met173Arg)

SNV
Unknown

Chr2:206147564

Likely pathogenic

Leigh syndrome

Criteria Provided
Single Submitter

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

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

rs_730881784

3 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

Criteria Provided
Conflicting Classifications

rs_267607914

2 SubmittersRCV000986646 RCV002416268

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

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

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

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

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

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

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

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

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

rs_1244071473

2 SubmittersRCV000988283

NM_007103.4(NDUFV1):c.766C>T (p.Arg256Cys)

SNV
Germline

Chr11:67611060

Conflicting classifications of pathogenicity

Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_755312472

3 SubmittersRCV000988584 RCV001104933 RCV001869354

NM_007103.4(NDUFV1):c.1129G>T (p.Glu377Ter)

SNV
Unknown

Chr11:67611945

Likely pathogenic

Leigh syndrome

Criteria Provided
Single Submitter

rs_1591111808

1 SubmittersRCV000988585

NM_000377.3(WAS):c.1081C>A (p.Pro361Thr)

SNV
Germline

ChrX:48688809

Conflicting classifications of pathogenicity

X-linked severe congenital neutropenia
Thrombocytopenia 1
Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia

Criteria Provided
Conflicting Classifications

rs_201657175

2 SubmittersRCV000990813 RCV001517040

NM_006218.4(PIK3CA):c.1090G>A (p.Gly364Arg)

SNV
Germline

Chr3:179204533

Pathogenic/Likely pathogenic

Condition: not provided
Megalencephaly-capillary malformation-polymicrogyria syndrome
PIK3CA related overgrowth syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1576935161

3 SubmittersRCV000998161 RCV001775154 RCV003233916

NM_001376571.1(MADD):c.1037T>C (p.Leu346Pro)

SNV
Germline

Chr11:47276805

Conflicting classifications of pathogenicity

Condition: not provided
Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia
Deeah syndrome

Criteria Provided
Conflicting Classifications

rs_1591767154

3 SubmittersRCV000994628 RCV001784525 RCV002290509

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

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

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

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
Malignant lymphoma, large B-cell, diffuse

Criteria Provided
Conflicting Classifications

rs_147828672

5 SubmittersRCV001003798 RCV001776076 RCV002249617 RCV002471010 RCV003448984

NM_000540.3(RYR1):c.2044C>T (p.Arg682Trp)

SNV
Germline

Chr19:38458169

Conflicting classifications of pathogenicity

Central core myopathy
Condition: not provided
RYR1-related disorder
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1
Congenital myopathy with fiber type disproportion
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

rs_776252106

6 SubmittersRCV001004922 RCV002305557 RCV001862742 RCV002479200 RCV004004475

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

rs_74315515

2 SubmittersRCV001007915 RCV001262264

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
Lynch syndrome 1
MSH2-related disorder

Criteria Provided
Conflicting Classifications

rs_878853826

5 SubmittersRCV001027033 RCV001342142 RCV003479266 RCV003989625 RCV004528342

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

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

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

rs_1558459194

3 SubmittersRCV001022796 RCV001060535 RCV004004632

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

rs_369670665

4 SubmittersRCV001026090 RCV001862352 RCV003455135

NM_000251.3(MSH2):c.809T>C (p.Leu270Pro)

SNV
Germline

Chr2:47414285

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

rs_1573451078

3 SubmittersRCV001027174 RCV001066735 RCV003455140

NM_000251.3(MSH2):c.1105G>A (p.Asp369Asn)

SNV
Germline

Chr2:47429770

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

rs_1573484275

4 SubmittersRCV001009904 RCV001066046 RCV004004478 RCV004569860

NM_000251.3(MSH2):c.1276G>C (p.Gly426Arg)

SNV
Germline

Chr2:47429941

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

rs_879254234

3 SubmittersRCV001010702 RCV003594068 RCV003336230

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

rs_1573553178

2 SubmittersRCV001012066 RCV003455073

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

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
Muir-Torré syndrome
Lynch syndrome 1
Mismatch repair cancer syndrome 2
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_63751409

2 SubmittersRCV001014362 RCV003455083

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

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

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

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

rs_775464903

3 SubmittersRCV001015182 RCV001860785 RCV003461347

NM_000251.3(MSH2):c.2386A>G (p.Thr796Ala)

SNV
Germline

Chr2:47478447

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

rs_876660738

3 SubmittersRCV001199895 RCV001015359 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

rs_1114167875

4 SubmittersRCV001015422 RCV001062324 RCV003467624

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

rs_63750571

2 SubmittersRCV001015793 RCV003455091

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

rs_751216225

4 SubmittersRCV001016472 RCV001860831 RCV004004557

NM_000179.3(MSH6):c.901A>T (p.Lys301Ter)

SNV
Germline

Chr2:47798884

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Endometrial carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

rs_1572720794

5 SubmittersRCV001018658 RCV001779102 RCV001039831 RCV003455101 RCV003461371

NM_000179.3(MSH6):c.1368G>A (p.Trp456Ter)

SNV
Germline

Chr2:47799351

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

rs_1572722737

3 SubmittersRCV001011198 RCV001047126 RCV003455070

NM_000179.3(MSH6):c.1493A>G (p.Lys498Arg)

SNV
Germline

Chr2:47799476

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Malignant tumor of breast
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

rs_147136417

5 SubmittersRCV001011856 RCV001215217 RCV001354837 RCV002279707 RCV004004504

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

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

rs_1572728472

3 SubmittersRCV001016441 RCV002549439 RCV003455093

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

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

rs_1572739043

3 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
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

rs_201830316

5 SubmittersRCV001021223 RCV001861012 RCV004004611 RCV004569996

NM_000179.3(MSH6):c.3861T>G (p.Tyr1287Ter)

SNV
Germline

Chr2:47806511

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1060504739

5 SubmittersRCV001021315 RCV001585927 RCV003455119 RCV003758986 RCV004004613

NM_004168.4(SDHA):c.1177G>A (p.Val393Met)

SNV
Germline

Chr5:235256

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Mitochondrial complex II deficiency, nuclear type 1
Hereditary pheochromocytoma-paraganglioma
Leigh syndrome
Mitochondrial complex II deficiency, nuclear type 1
Paragangliomas 5
Condition: not provided
SDHA-related disorder
Dilated cardiomyopathy 1GG

Criteria Provided
Conflicting Classifications

rs_372989971

6 SubmittersRCV001010145 RCV001156140 RCV001156141 RCV001156142 RCV001238661 RCV003478607 RCV004536047 RCV004569864

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

rs_377259633

5 SubmittersRCV001015297 RCV001362342 RCV003461349 RCV003479263

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

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_767028531

4 SubmittersRCV001025441 RCV001383035 RCV003455132

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
Hereditary nonpolyposis colon cancer
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_587779333

6 SubmittersRCV001013976 RCV001242115 RCV002259376 RCV003387954 RCV003455081

NM_000251.3(MSH2):c.942+1G>A

SNV
Germline

Chr2:47414419

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_587779193

3 SubmittersRCV001019333 RCV001210828 RCV003455107

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

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

rs_1572746025

3 SubmittersRCV001021191 RCV003455116 RCV002551836

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

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_267608147

4 SubmittersRCV001025972 RCV003455134 RCV003758989

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

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

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

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

rs_114527197

3 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

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 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

rs_1166747167

6 SubmittersRCV001062343 RCV001806007 RCV002268425 RCV003467816 RCV004000125

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

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

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
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

rs_1666901220

5 SubmittersRCV001042504 RCV002400248 RCV003321787 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 1
Mismatch repair cancer syndrome 2
Muir-Torré syndrome
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

rs_63751054

6 SubmittersRCV001062181 RCV001183388 RCV002479368 RCV004000124 RCV004570256

NM_000251.3(MSH2):c.2090G>C (p.Cys697Ser)

SNV
Germline

Chr2:47476451

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

rs_63750398

3 SubmittersRCV001061905 RCV004030441 RCV004570253

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

Criteria Provided
Conflicting Classifications

rs_373393954

6 SubmittersRCV001047234 RCV001183949 RCV003226427 RCV003467748 RCV004004786

NM_000251.3(MSH2):c.2629A>T (p.Arg877Ter)

SNV
Germline

Chr2:47480866

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1667504677

2 SubmittersRCV001063932 RCV004570268

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

rs_752887988

3 SubmittersRCV001039473 RCV002354992 RCV004004727

NM_000179.3(MSH6):c.1039G>T (p.Glu347Ter)

SNV
Germline

Chr2:47799022

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1669287624

3 SubmittersRCV001055202 RCV003455252 RCV002393274

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

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_41295270

3 SubmittersRCV001043808 RCV001356226 RCV003455178

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

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
Lynch syndrome

Criteria Provided
Conflicting Classifications

rs_2080897397

3 SubmittersRCV001069082 RCV002355096 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

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

rs_141852778

2 SubmittersRCV001043833 RCV002553101

NM_001378615.1(CC2D2A):c.3325C>T (p.Arg1109Ter)

SNV
Germline

Chr4:15567713

Pathogenic/Likely pathogenic

Familial aplasia of the vermis
Meckel-Gruber syndrome
Condition: not provided
Meckel syndrome, type 6
Joubert syndrome 9
COACH syndrome 2
Retinitis pigmentosa 93
Neurodevelopmental disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_760676442

5 SubmittersRCV001041856 RCV001280749 RCV002489573 RCV002276597

NM_000535.7(PMS2):c.2489T>C (p.Leu830Pro)

SNV
Germline

Chr7:5973499

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

rs_1781502574

3 SubmittersRCV001047153 RCV002429620 RCV002280584

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

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

rs_63750456

5 SubmittersRCV001061254 RCV002411572 RCV003446602

NM_000535.7(PMS2):c.520C>T (p.Gln174Ter)

SNV
Germline

Chr7:6002470

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_1221485925

3 SubmittersRCV001058031 RCV003455262

NM_018344.6(SLC29A3):c.139G>T (p.Glu47Ter)

SNV
Germline

Chr10:71322893

Pathogenic

H syndrome

Criteria Provided
Single Submitter

rs_377762611

1 SubmittersRCV001069573

NM_024426.6(WT1):c.980G>A (p.Ser327Asn)

SNV
Germline

Chr11:32416526

Conflicting classifications of pathogenicity

Drash syndrome
Frasier syndrome
Wilms tumor 1
11p partial monosomy syndrome
Ovarian cancer

Criteria Provided
Conflicting Classifications

rs_1308955642

2 SubmittersRCV001048053 RCV003153907

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

Criteria Provided
Conflicting Classifications

rs_61755653

4 SubmittersRCV001121872 RCV004031840 RCV004576982

NM_000540.3(RYR1):c.1983G>A (p.Trp661Ter)

SNV
Germline

Chr19:38458108

Conflicting classifications of pathogenicity

RYR1-related disorder
Condition: not provided
Malignant hyperthermia, susceptibility to, 1
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

rs_1305971341

5 SubmittersRCV001058792 RCV001784614 RCV002505620 RCV004000105

NM_000540.3(RYR1):c.8342T>C (p.Ile2781Thr)

SNV
Germline

Chr19:38505340

Conflicting classifications of pathogenicity

RYR1-related disorder
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion
King Denborough syndrome
Condition: not provided
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

rs_767805554

5 SubmittersRCV001051646 RCV002505599 RCV003490034 RCV003514460

NM_000540.3(RYR1):c.14474G>A (p.Arg4825His)

SNV
Germline

Chr19:38580091

Conflicting classifications of pathogenicity

RYR1-related disorder
Central core myopathy
Congenital myopathy with fiber type disproportion
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_193922875

3 SubmittersRCV001040954 RCV002481884 RCV003130110

NM_000377.3(WAS):c.70T>C (p.Ser24Pro)

SNV
Germline

ChrX:48683923

Likely pathogenic

X-linked severe congenital neutropenia
Thrombocytopenia 1
Wiskott-Aldrich syndrome

Criteria Provided
Single Submitter

rs_2062410722

1 SubmittersRCV001035433

NM_000377.3(WAS):c.172C>A (p.Pro58Thr)

SNV
Germline

ChrX:48684322

Pathogenic

Thrombocytopenia 1
X-linked severe congenital neutropenia
Wiskott-Aldrich syndrome

Criteria Provided
Single Submitter

rs_2062412365

1 SubmittersRCV001047233

NM_000377.3(WAS):c.238C>T (p.Gln80Ter)

SNV
Germline

ChrX:48684388

Pathogenic

Thrombocytopenia 1
Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia

Criteria Provided
Single Submitter

rs_2062412730

1 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

rs_2062429013

4 SubmittersRCV001041620 RCV001091017

NM_022552.5(DNMT3A):c.1122+3G>A

SNV
Germline

Chr2:25247048

Conflicting classifications of pathogenicity

Tatton-Brown-Rahman overgrowth syndrome
DNMT3A-related disorder

Criteria Provided
Conflicting Classifications

rs_189798836

2 SubmittersRCV001038011 RCV003898044

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

rs_373885654

3 SubmittersRCV001053111 RCV003455235 RCV004031668

NM_000535.7(PMS2):c.803+1G>A

SNV
Germline

Chr7:5997325

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_1562669585

4 SubmittersRCV001068955 RCV001800953 RCV003455298

NM_000535.7(PMS2):c.804-2A>G

SNV
Germline

Chr7:5995635

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Hereditary nonpolyposis colon cancer

Criteria Provided
Multiple Submitters
No Conflicts

rs_1307026290

5 SubmittersRCV001054912 RCV002409456 RCV003455250 RCV003994200

NM_015272.5(RPGRIP1L):c.1244-1G>T

SNV
Germline

Chr16:53658879

Likely pathogenic

Familial aplasia of the vermis
Meckel-Gruber syndrome
Joubert syndrome 7
Meckel syndrome, type 5
COACH syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

rs_1306595038

2 SubmittersRCV001058076 RCV002479353

NM_015272.5(RPGRIP1L):c.776+1G>A

SNV
Germline

Chr16:53686432

Pathogenic/Likely pathogenic

Meckel-Gruber syndrome
Familial aplasia of the vermis
Familial aplasia of the vermis
Condition: not provided
Meckel syndrome, type 5
COACH syndrome 3
Joubert syndrome 7

Criteria Provided
Multiple Submitters
No Conflicts

rs_771226563

4 SubmittersRCV001070906 RCV001828525 RCV001784626 RCV002505659

NM_000540.3(RYR1):c.10824+8G>A

SNV
Germline

Chr19:38527792

Conflicting classifications of pathogenicity

RYR1-related disorder
Central core myopathy
Congenital myopathy with fiber type disproportion
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia

Criteria Provided
Conflicting Classifications

rs_374325589

2 SubmittersRCV001034975 RCV002489536

NM_000377.3(WAS):c.397G>A (p.Glu133Lys)

SNV
Germline

ChrX:48685770

Conflicting classifications of pathogenicity

Wiskott-Aldrich syndrome

Criteria Provided
Conflicting Classifications

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

rs_751562376

3 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

rs_1669552731

2 SubmittersRCV001093450 RCV003455441

NM_000249.4(MLH1):c.2080G>T (p.Glu694Ter)

SNV
Germline

Chr3:37048994

Pathogenic

Lynch syndrome 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Gastric cancer

Criteria Provided
Multiple Submitters
No Conflicts

rs_147542208

6 SubmittersRCV001093683 RCV001784646 RCV002418578 RCV003455442 RCV003160614

NM_000249.4(MLH1):c.885-2A>C

SNV
Germline

Chr3:37020308

Likely pathogenic

Lynch syndrome 1

No Assertion Criteria Provided

rs_267607805

1 SubmittersRCV001093689

NM_000251.3(MSH2):c.2635-24A>G

SNV
Germline

Chr2:47482755

Pathogenic/Likely pathogenic

Familial colorectal cancer
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1667575488

6 SubmittersRCV001171465 RCV001856289 RCV002256681 RCV002290600

NM_000249.4(MLH1):c.1732-264A>T

SNV
Germline

Chr3:37047255

Likely pathogenic

Familial colorectal cancer
Lynch syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Single Submitter

rs_2085261656

2 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

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

rs_757865136

2 SubmittersRCV001107986

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

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
Drash syndrome
Frasier syndrome
Wilms tumor 1
11p partial monosomy syndrome

Criteria Provided
Conflicting Classifications

rs_375114529

3 SubmittersRCV001102604 RCV001102605 RCV001102606 RCV001499170

NM_024426.6(WT1):c.813G>C (p.Pro271=)

SNV
Germline

Chr11:32428030

Conflicting classifications of pathogenicity

Wilms tumor 1
Nephrotic syndrome, type 4
Meacham syndrome
not specified
Drash syndrome
Frasier syndrome
Wilms tumor 1
11p partial monosomy syndrome

Criteria Provided
Conflicting Classifications

rs_1341857958

4 SubmittersRCV001107285 RCV001107286 RCV001107287 RCV001553700 RCV001454642

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

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

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

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

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
Familial aplasia of the vermis
Meckel-Gruber syndrome
COACH syndrome 3
Meckel syndrome, type 5
Joubert syndrome 7
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_973841786

4 SubmittersRCV001116968 RCV001116969 RCV001116970 RCV001856535 RCV002491365 RCV003425936

NM_004589.4(SCO1):c.16C>T (p.Leu6=)

SNV
Germline

Chr17:10697492

Conflicting classifications of pathogenicity

Mitochondrial complex IV deficiency, nuclear type 1
Condition: not provided
Leigh syndrome

Criteria Provided
Conflicting Classifications

rs_61753148

2 SubmittersRCV001124543 RCV002558228 RCV001124544

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

rs_199737206

2 SubmittersRCV001122056 RCV001122057 RCV002556626

NM_001303.4(COX10):c.*305A>G

SNV
Germline

Chr17:14207518

Conflicting classifications of pathogenicity

Mitochondrial complex IV deficiency, nuclear type 1
Leigh syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_143758001

2 SubmittersRCV001124826 RCV001124825 RCV003405332

NM_001303.4(COX10):c.*904C>G

SNV
Germline

Chr17:14208117

Conflicting classifications of pathogenicity

Leigh syndrome
Mitochondrial complex IV deficiency, nuclear type 1

Criteria Provided
Conflicting Classifications

rs_75839697

1 SubmittersRCV001125911 RCV001125912

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

rs_116445114

2 SubmittersRCV001122250 RCV001122251 RCV001779119

NM_001303.4(COX10):c.*1267A>G

SNV
Germline

Chr17:14208480

Conflicting classifications of pathogenicity

Leigh syndrome
Mitochondrial complex IV deficiency, nuclear type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_75844637

2 SubmittersRCV001122255 RCV001122254 RCV001786437

NM_001303.4(COX10):c.*1383G>A

SNV
Germline

Chr17:14208596

Conflicting classifications of pathogenicity

Leigh syndrome
Condition: not provided
Mitochondrial complex IV deficiency, nuclear type 1

Criteria Provided
Conflicting Classifications

rs_145948022

2 SubmittersRCV001125029 RCV001836945 RCV001125028

NM_024407.5(NDUFS7):c.158C>T (p.Ala53Val)

SNV
Germline

Chr19:1388868

Conflicting classifications of pathogenicity

Mitochondrial complex I deficiency, nuclear type 1
Leigh syndrome
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_565395435

3 SubmittersRCV001123146 RCV001123145 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

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

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

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

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
Leigh syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_769276632

2 SubmittersRCV001136552 RCV001136551 RCV002558295

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

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

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

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

rs_138818421

2 SubmittersRCV001138995 RCV001138996 RCV003438669

NM_005006.7(NDUFS1):c.-76G>A

SNV
Germline

Chr2:206159412

Conflicting classifications of pathogenicity

Mitochondrial complex I deficiency, nuclear type 1
Leigh syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_116137442

2 SubmittersRCV001141607 RCV001141606 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

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

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

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

rs_374065697

1 SubmittersRCV001140110 RCV001140109

NM_004544.4(NDUFA10):c.*428C>T

SNV
Germline

Chr2:239960690

Conflicting classifications of pathogenicity

Mitochondrial complex I deficiency, nuclear type 1
Leigh syndrome

Criteria Provided
Conflicting Classifications

rs_557106858

1 SubmittersRCV001142725 RCV001142724

NM_004544.4(NDUFA10):c.*183C>T

SNV
Germline

Chr2:239960935

Conflicting classifications of pathogenicity

Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 1

Criteria Provided
Conflicting Classifications

rs_112660586

1 SubmittersRCV001138396 RCV001138395

NM_004544.4(NDUFA10):c.630C>T (p.Pro210=)

SNV
Germline

Chr2:240014778

Conflicting classifications of pathogenicity

Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_148656779

2 SubmittersRCV001138079 RCV001138078 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
Condition: not provided
NDUFA10-related disorder

Criteria Provided
Conflicting Classifications

rs_118106981

4 SubmittersRCV001141071 RCV001141072 RCV002285448 RCV003928737

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

Criteria Provided
Conflicting Classifications

rs_928084265

2 SubmittersRCV001138192 RCV001138193 RCV004032319

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

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

rs_1196239075

2 SubmittersRCV001137349 RCV003320805

NM_000179.3(MSH6):c.2356T>C (p.Tyr786His)

SNV
Germline

Chr2:47800339

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

rs_773193199

4 SubmittersRCV001362434 RCV002445397 RCV001140445 RCV003462638

NC_000021.9:g.45405463C>T

SNV
Germline

Chr21:45405463

Conflicting classifications of pathogenicity

Knobloch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_772492972

2 SubmittersRCV001139085 RCV001490069

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

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
Inborn genetic diseases
COL18A1-related disorder

Criteria Provided
Conflicting Classifications

rs_2236453

4 SubmittersRCV001141700 RCV001520163 RCV003293899 RCV004548021

NM_001379500.1(COL18A1):c.855G>A (p.Leu285=)

SNV
Germline

Chr21:45476407

Conflicting classifications of pathogenicity

Knobloch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_754187386

2 SubmittersRCV001139193 RCV002070646

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

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

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

rs_201380467

2 SubmittersRCV001143618 RCV002070728

NM_001379500.1(COL18A1):c.1542C>T (p.Asp514=)

SNV
Germline

Chr21:45480789

Conflicting classifications of pathogenicity

Knobloch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_200106008

2 SubmittersRCV001137046 RCV001521427

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

rs_556113991

2 SubmittersRCV001139405 RCV002070656

NM_001379500.1(COL18A1):c.2388C>T (p.Tyr796=)

SNV
Germline

Chr21:45494870

Conflicting classifications of pathogenicity

Knobloch syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

rs_139122081

4 SubmittersRCV001142029 RCV001516386 RCV001700978

NM_001379500.1(COL18A1):c.2490C>T (p.Ser830=)

SNV
Germline

Chr21:45495414

Conflicting classifications of pathogenicity

Knobloch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_377601838

2 SubmittersRCV001143837 RCV001521557

NM_001379500.1(COL18A1):c.2568C>T (p.Tyr856=)

SNV
Germline

Chr21:45496559

Conflicting classifications of pathogenicity

Knobloch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_376919554

2 SubmittersRCV001143839 RCV002070733

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

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

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

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

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

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

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

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

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

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
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

rs_749671520

6 SubmittersRCV001149362 RCV001469803 RCV003117786 RCV002375041 RCV004000255

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

rs_189989110

1 SubmittersRCV001153828 RCV001153829 RCV001153830

NM_174889.5(NDUFAF2):c.423A>G (p.Glu141=)

SNV
Germline

Chr5:61152868

Conflicting classifications of pathogenicity

Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_550008432

3 SubmittersRCV001152462 RCV001152461 RCV001712860

NM_000108.5(DLD):c.30C>A (p.Ser10=)

SNV
Germline

Chr7:107891280

Conflicting classifications of pathogenicity

Pyruvate dehydrogenase E3 deficiency
Leigh syndrome
Pyruvate dehydrogenase complex deficiency

Criteria Provided
Conflicting Classifications

rs_779166996

2 SubmittersRCV001163465 RCV001163467 RCV001163466

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

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

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

rs_1784804225

2 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

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

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

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

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

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

rs_753935209

1 SubmittersRCV001170051

NM_006941.4(SOX10):c.425G>C (p.Trp142Ser)

SNV
Germline

Chr22:37983360

Pathogenic

PCWH syndrome

No Assertion Criteria Provided

rs_886039664

1 SubmittersRCV001170070

NM_000251.3(MSH2):c.776C>T (p.Pro259Leu)

SNV
Germline

Chr2:47412544

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

rs_866818044

5 SubmittersRCV001177728 RCV001875856 RCV003478706 RCV004006403

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

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

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

rs_587779092

3 SubmittersRCV001190620 RCV002560088 RCV004010447

NM_000251.3(MSH2):c.1840G>T (p.Gly614Ter)

SNV
Germline

Chr2:47475105

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

rs_1380847972

4 SubmittersRCV001188274 RCV003449614 RCV002560014

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

rs_754533481

2 SubmittersRCV001185403 RCV003449604

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

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

rs_1669552731

4 SubmittersRCV001190006 RCV001859140 RCV003449617

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

rs_764112241

3 SubmittersRCV001176248 RCV004000331

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

rs_758250810

6 SubmittersRCV001192082 RCV001269755 RCV001859159 RCV003388604 RCV003449623

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

rs_1785723689

3 SubmittersRCV001186032 RCV003449605

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

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

rs_587779279

4 SubmittersRCV001190323 RCV001382590 RCV003449622

NM_000535.7(PMS2):c.705+2T>C

SNV
Germline

Chr7:5999106

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_1784783734

5 SubmittersRCV001179571 RCV001380257 RCV001780095 RCV003449589

NM_000535.7(PMS2):c.354-15G>T

SNV
Germline

Chr7:6002651

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

rs_1250216615

3 SubmittersRCV001186597 RCV002559940 RCV004008615

NM_000535.7(PMS2):c.538-2A>C

SNV
Germline

Chr7:5999277

Likely pathogenic

Hereditary cancer-predisposing syndrome
Mismatch repair cancer syndrome 4
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_758304323

2 SubmittersRCV001189613 RCV002497660

NM_000251.3(MSH2):c.1609A>T (p.Lys537Ter)

SNV
Germline

Chr2:47466756

Pathogenic

Hereditary nonpolyposis colon cancer
Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_980244810

3 SubmittersRCV001193244 RCV003449627 RCV002393445

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

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

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

rs_782601312

2 SubmittersRCV001193157

NM_000251.3(MSH2):c.1384C>G (p.Gln462Glu)

SNV
Germline

Chr2:47445655

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

rs_876657701

4 SubmittersRCV001219639 RCV001664761 RCV002379829 RCV004010728

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

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

rs_1667078647

3 SubmittersRCV001221997 RCV002402680 RCV003449701

NM_000179.3(MSH6):c.1281C>A (p.Tyr427Ter)

SNV
Germline

Chr2:47799264

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Endometrial carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553412720

4 SubmittersRCV001217699 RCV002379819 RCV003449686 RCV004570494

NM_000179.3(MSH6):c.1559G>A (p.Gly520Asp)

SNV
Germline

Chr2:47799542

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

rs_1669344619

3 SubmittersRCV001223696 RCV002402694 RCV003449707

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

rs_1785199575

4 SubmittersRCV001216994 RCV002339568 RCV003449684

NM_024426.6(WT1):c.273G>A (p.Leu91=)

SNV
Germline

Chr11:32435088

Conflicting classifications of pathogenicity

Drash syndrome
Frasier syndrome
Wilms tumor 1
11p partial monosomy syndrome
Hereditary cancer-predisposing syndrome
Wilms tumor 1

Criteria Provided
Conflicting Classifications

rs_1396104394

3 SubmittersRCV001220883 RCV002258165 RCV004010738

NM_000540.3(RYR1):c.7029C>T (p.Gly2343=)

SNV
Germline

Chr19:38499636

Conflicting classifications of pathogenicity

RYR1-related disorder
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1
Central core myopathy
Congenital myopathy with fiber type disproportion
Congenital multicore myopathy with external ophthalmoplegia

Criteria Provided
Conflicting Classifications

rs_138617219

2 SubmittersRCV001217935 RCV002504268

NM_000540.3(RYR1):c.7858C>T (p.Gln2620Ter)

SNV
Germline

Chr19:38502902

Pathogenic

Condition: not provided
RYR1-related disorder
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1
Central core myopathy
Congenital myopathy with fiber type disproportion
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy

Criteria Provided
Multiple Submitters
No Conflicts

rs_1365856881

4 SubmittersRCV001780144 RCV001219907 RCV002491686 RCV003156321

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
Multiple Submitters
No Conflicts

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

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

rs_1013401625

4 SubmittersRCV001213246 RCV002258160 RCV003462715

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

rs_1669881416

2 SubmittersRCV001203597 RCV004010629

NM_014159.7(SETD2):c.7660G>A (p.Val2554Ile)

SNV
Germline

Chr3:47017128

Conflicting classifications of pathogenicity

Luscan-Lumish syndrome
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

rs_768564000

3 SubmittersRCV001208523 RCV002561689 RCV003317449

NM_000377.3(WAS):c.142A>C (p.Thr48Pro)

SNV
Germline

ChrX:48684292

Likely pathogenic

X-linked severe congenital neutropenia
Thrombocytopenia 1
Wiskott-Aldrich syndrome

Criteria Provided
Single Submitter

rs_2062412197

1 SubmittersRCV001204405

NM_000377.3(WAS):c.256C>T (p.Arg86Cys)

SNV
Germline

ChrX:48684406

Pathogenic

X-linked severe congenital neutropenia
Thrombocytopenia 1
Wiskott-Aldrich syndrome
Wiskott-Aldrich syndrome
WAS-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_2062412810

3 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

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

Criteria Provided
Conflicting Classifications

rs_1389301978

4 SubmittersRCV001202557 RCV003293994 RCV004010621

NM_024426.6(WT1):c.1114-1G>T

SNV
Germline

Chr11:32396408

Likely pathogenic

Drash syndrome
Frasier syndrome
Wilms tumor 1
11p partial monosomy syndrome

Criteria Provided
Single Submitter

rs_1851976798

1 SubmittersRCV001213839

NM_000251.3(MSH2):c.792+1G>C

SNV
Germline

Chr2:47412561

Pathogenic/Likely pathogenic

Malignant tumor of breast
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_267607934

5 SubmittersRCV001357326 RCV001223371 RCV003449704 RCV003363185

NM_000251.3(MSH2):c.793-2A>G

SNV
Germline

Chr2:47414267

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_267607933

3 SubmittersRCV001219161 RCV002418752 RCV003449695

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

rs_988423880

5 SubmittersRCV001219564 RCV002290643 RCV002348734 RCV004546618

NM_024426.6(WT1):c.1447+2T>C

SNV
Germline

Chr11:32391970

Likely pathogenic

Wilms tumor 1
11p partial monosomy syndrome
Drash syndrome
Frasier syndrome

Criteria Provided
Single Submitter

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

rs_778270132

3 SubmittersRCV001227614 RCV003321812 RCV004557460

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

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

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

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

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

rs_2041416610

3 SubmittersRCV001227955 RCV003127704

NM_014159.7(SETD2):c.265C>T (p.Leu89Phe)

SNV
Germline

Chr3:47124371

Conflicting classifications of pathogenicity

Luscan-Lumish syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_374799616

3 SubmittersRCV001225345 RCV001549883

NM_000535.7(PMS2):c.1123C>T (p.Gln375Ter)

SNV
Germline

Chr7:5989821

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_956005905

3 SubmittersRCV001227131 RCV002436879 RCV003449715

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

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

rs_758201217

2 SubmittersRCV001237894

NM_015272.5(RPGRIP1L):c.3121A>T (p.Lys1041Ter)

SNV
Germline

Chr16:53637794

Pathogenic/Likely pathogenic

Familial aplasia of the vermis
Meckel-Gruber syndrome
Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3
RPGRIP1L-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_1456208953

3 SubmittersRCV001231979 RCV002497792 RCV004538486

NM_015272.5(RPGRIP1L):c.1799T>G (p.Leu600Ter)

SNV
Germline

Chr16:53652888

Pathogenic/Likely pathogenic

Familial aplasia of the vermis
Meckel-Gruber syndrome
Joubert syndrome 7
COACH syndrome 3
Meckel syndrome, type 5

Criteria Provided
Multiple Submitters
No Conflicts

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

rs_1674744924

1 SubmittersRCV001245491

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

Criteria Provided
Conflicting Classifications

rs_768072239

5 SubmittersRCV001239492 RCV001773542 RCV002563944

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

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_267607948

2 SubmittersRCV001235341 RCV003142200

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

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1114167883

3 SubmittersRCV001241243 RCV001806078 RCV003449751

NM_000535.7(PMS2):c.988+1G>T

SNV
Germline

Chr7:5991972

Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_757110564

5 SubmittersRCV001243900 RCV001524006 RCV003449767 RCV004004899

NM_152416.4(NDUFAF6):c.337C>T (p.Arg113Ter)

SNV
Germline

Chr8:95035493

Pathogenic/Likely pathogenic

Leigh syndrome
Condition: not provided
Mitochondrial complex 1 deficiency, nuclear type 17

Criteria Provided
Multiple Submitters
No Conflicts

rs_753873681

6 SubmittersRCV001249207 RCV001556391 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

rs_201992354

3 SubmittersRCV001249206 RCV001267713 RCV001879751

NM_024120.5(NDUFAF5):c.562A>G (p.Met188Val)

SNV
Germline

Chr20:13801528

Likely pathogenic

Leigh syndrome

Criteria Provided
Single Submitter

rs_200756131

1 SubmittersRCV001249209

NM_024120.5(NDUFAF5):c.519+4A>G

SNV
Germline

Chr20:13798504

Conflicting classifications of pathogenicity

Leigh syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_373951216

3 SubmittersRCV001249208 RCV001844279 RCV002570397

NM_024426.6(WT1):c.1338C>A (p.His446Gln)

SNV
Germline

Chr11:32392682

Pathogenic

Drash syndrome
Frasier syndrome
Wilms tumor 1
11p partial monosomy syndrome
Drash syndrome
Frasier syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_121907907

2 SubmittersRCV001280531 RCV001879755

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

rs_1573437064

2 SubmittersRCV001249955 RCV002291503

NM_000251.3(MSH2):c.803C>A (p.Ser268Ter)

SNV
Germline/somatic

Chr2:47414279

Pathogenic

Lynch-like syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_563410947

4 SubmittersRCV001249913 RCV002570409 RCV002418857 RCV003449805

NM_000179.3(MSH6):c.3141G>A (p.Trp1047Ter)

SNV
Germline/somatic

Chr2:47801124

Pathogenic

Lynch-like syndrome
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553414554

4 SubmittersRCV001249959 RCV003449807 RCV003594123 RCV002322167

NM_001376571.1(MADD):c.2816+1G>A

SNV
Germline

Chr11:47289494

Pathogenic

Deeah syndrome

Criteria Provided
Single Submitter

rs_2063412625

1 SubmittersRCV001250121

NM_006941.4(SOX10):c.941C>A (p.Ser314Ter)

SNV
Germline

Chr22:37973955

Pathogenic

PCWH syndrome

Criteria Provided
Single Submitter

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

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

rs_2041433287

1 SubmittersRCV001254166

NM_001376571.1(MADD):c.914G>T (p.Gly305Val)

SNV
Germline

Chr11:47276153

Pathogenic

Deeah syndrome

No Assertion Criteria Provided

rs_1326027590

1 SubmittersRCV001256020

NM_001376571.1(MADD):c.963+1G>A

SNV
Germline

Chr11:47276203

Pathogenic

Deeah syndrome

No Assertion Criteria Provided

rs_2049640804

1 SubmittersRCV001256022

NM_001376571.1(MADD):c.770C>T (p.Ser257Phe)

SNV
Germline

Chr11:47276009

Pathogenic

Deeah syndrome

No Assertion Criteria Provided

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
Wilms tumor 1
11p partial monosomy syndrome
Drash syndrome
Frasier syndrome

Criteria Provided
Conflicting Classifications

rs_756055892

2 SubmittersRCV001257278 RCV003770342

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

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

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

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

rs_760854242

3 SubmittersRCV001260609 RCV001879994

NM_001378615.1(CC2D2A):c.2803C>T (p.Arg935Ter)

SNV
Germline

Chr4:15557481

Pathogenic

Meckel-Gruber syndrome
Familial aplasia of the vermis
Meckel syndrome, type 6
Retinitis pigmentosa 93
Joubert syndrome 9
COACH syndrome 2
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

rs_563610095

3 SubmittersRCV001880034 RCV002499450 RCV002541585

NM_000535.7(PMS2):c.1112A>T (p.Asn371Ile)

SNV
Unknown

Chr7:5989832

Likely pathogenic

Lynch syndrome 4

Criteria Provided
Single Submitter

rs_1783517960

1 SubmittersRCV001262163

NC_012920.1(MT-ATP6):m.9155A>G

SNV
Germline

ChrMT:9155

Likely pathogenic

Mitochondrial disease
Leigh syndrome

Reviewed By Expert Panel

2 SubmittersRCV002291223 RCV002537703

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

rs_767236033

2 SubmittersRCV001269839 RCV003746587

NM_024120.5(NDUFAF5):c.480-3T>G

SNV
Germline

Chr20:13798458

Conflicting classifications of pathogenicity

Leigh syndrome
Condition: not provided
Mitochondrial complex 1 deficiency, nuclear type 16

Criteria Provided
Conflicting Classifications

rs_749288299

3 SubmittersRCV001279569 RCV001773584 RCV003469500

NM_000251.3(MSH2):c.2377C>T (p.Gln793Ter)

SNV
Germline

Chr2:47478438

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_730881769

4 SubmittersRCV001284507 RCV001384160 RCV002451640 RCV003449836

NM_000535.7(PMS2):c.903+1G>A

SNV
Germline

Chr7:5995533

Likely pathogenic

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_1554300689

7 SubmittersRCV001284681 RCV002537934 RCV002375329 RCV003449837

NM_006218.4(PIK3CA):c.271G>A (p.Asp91Asn)

SNV
Somatic

Chr3:179199096

Pathogenic

PIK3CA related overgrowth syndrome

No Assertion Criteria Provided

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

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
SETD2-related disorder

Criteria Provided
Conflicting Classifications

rs_764195998

3 SubmittersRCV001291822 RCV004035586 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

rs_917968387

2 SubmittersRCV001295935 RCV003449847

NM_000251.3(MSH2):c.1185A>C (p.Gln395His)

SNV
Germline

Chr2:47429850

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

rs_1032873228

3 SubmittersRCV001299434 RCV002341591 RCV004004987

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

rs_750646335

2 SubmittersRCV001305464 RCV003449871

NM_000251.3(MSH2):c.2276G>T (p.Gly759Val)

SNV
Germline

Chr2:47478337

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

rs_386833406

3 SubmittersRCV001302008 RCV002447293 RCV003449856

NM_014159.7(SETD2):c.5635C>T (p.Arg1879Cys)

SNV
Germline

Chr3:47084145

Pathogenic

Luscan-Lumish syndrome

Criteria Provided
Single Submitter

rs_1575744958

1 SubmittersRCV001302348

NM_014159.7(SETD2):c.4930G>A (p.Gly1644Arg)

SNV
Germline

Chr3:47101543

Conflicting classifications of pathogenicity

Luscan-Lumish syndrome
SETD2-related disorder

Criteria Provided
Conflicting Classifications

rs_2042210578

2 SubmittersRCV001303150 RCV004531086

NM_000251.3(MSH2):c.1899A>T (p.Ile633=)

SNV
Germline

Chr2:47475164

Conflicting classifications of pathogenicity

Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1667243318

3 SubmittersRCV001310074 RCV003759043 RCV003294253

NM_000251.3(MSH2):c.987G>C (p.Leu329Phe)

SNV
Germline

Chr2:47416340

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_933434691

3 SubmittersRCV001321787 RCV004005110 RCV004035040

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

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

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

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

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

rs_1781486223

3 SubmittersRCV001327730 RCV002431938 RCV003449942

NM_022552.5(DNMT3A):c.427C>T (p.Arg143Ter)

SNV
Germline

Chr2:25282462

Pathogenic

Intellectual disability
Tatton-Brown-Rahman overgrowth syndrome

Criteria Provided
Single Submitter

rs_1352259738

2 SubmittersRCV001328488 RCV003584898

NM_002495.4(NDUFS4):c.80T>A (p.Val27Asp)

SNV
Germline

Chr5:53560742

Conflicting classifications of pathogenicity

Leigh syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_145347909

3 SubmittersRCV001328961 RCV002070156

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

rs_778412019

3 SubmittersRCV001331215 RCV002307728 RCV003738044

NM_015272.5(RPGRIP1L):c.2239C>T (p.Arg747Ter)

SNV
Germline

Chr16:53649029

Pathogenic/Likely pathogenic

Familial aplasia of the vermis
Meckel-Gruber syndrome
COACH syndrome 3
Joubert syndrome 7
Meckel syndrome, type 5
Joubert syndrome and related disorders

Criteria Provided
Multiple Submitters
No Conflicts

rs_767686118

3 SubmittersRCV001975234 RCV002479591 RCV002469441

NM_000377.3(WAS):c.374G>A (p.Gly125Glu)

SNV
Unknown

ChrX:48685747

Likely pathogenic

Wiskott-Aldrich syndrome

Criteria Provided
Single Submitter

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
Familial aplasia of the vermis

Criteria Provided
Conflicting Classifications

rs_1010285962

2 SubmittersRCV001334752 RCV002070189

NM_001378615.1(CC2D2A):c.4314+12C>T

SNV
Germline

Chr4:15589691

Conflicting classifications of pathogenicity

COACH syndrome 1
Meckel-Gruber syndrome
Familial aplasia of the vermis

Criteria Provided
Conflicting Classifications

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

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
Familial aplasia of the vermis

Criteria Provided
Conflicting Classifications

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
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
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

rs_927675372

4 SubmittersRCV001334520 RCV001865812 RCV002476551 RCV004005143

NM_000540.3(RYR1):c.2113G>A (p.Gly705Arg)

SNV
Germline

Chr19:38458238

Conflicting classifications of pathogenicity

Central core myopathy
Condition: not provided
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Congenital myopathy with fiber type disproportion
Congenital multicore myopathy with external ophthalmoplegia
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1
RYR1-related disorder

Criteria Provided
Conflicting Classifications

rs_565825739

6 SubmittersRCV001334521 RCV001702096 RCV002499657 RCV004005144 RCV003591856

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

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

rs_376677710

4 SubmittersRCV001338269 RCV003169591 RCV004570806

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

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

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

rs_368465960

4 SubmittersRCV001341491 RCV003225179

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

rs_267607987

3 SubmittersRCV001355403 RCV002420773 RCV003449995

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

rs_2128672286

2 SubmittersRCV001357092 RCV003469593

NM_000179.3(MSH6):c.2118T>A (p.Phe706Leu)

SNV
Germline

Chr2:47800101

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_2104389604

3 SubmittersRCV001370981 RCV004006826 RCV004037489

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
Congenital myopathy with fiber type disproportion
King Denborough syndrome
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_919322708

3 SubmittersRCV001370546 RCV002488164 RCV003235565

NM_000540.3(RYR1):c.10347C>T (p.His3449=)

SNV
Germline

Chr19:38523115

Conflicting classifications of pathogenicity

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
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

rs_373702420

3 SubmittersRCV001370548 RCV002504621 RCV004006823

NM_022552.5(DNMT3A):c.1004A>G (p.Lys335Arg)

SNV
Germline

Chr2:25247601

Pathogenic/Likely pathogenic

Neonatal hypotonia
Autism spectrum disorder
Tatton-Brown-Rahman overgrowth syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

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

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

rs_63751604

3 SubmittersRCV001377641 RCV002420851 RCV003450044

NM_000377.3(WAS):c.250T>C (p.Phe84Leu)

SNV
Germline

ChrX:48684400

Likely pathogenic

X-linked severe congenital neutropenia
Thrombocytopenia 1
Wiskott-Aldrich syndrome

Criteria Provided
Single Submitter

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
See cases
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_568207978

3 SubmittersRCV001382894 RCV002252677 RCV002284489

NM_022552.5(DNMT3A):c.856-10G>A

SNV
Germline

Chr2:25247759

Pathogenic

Tatton-Brown-Rahman overgrowth syndrome

Criteria Provided
Single Submitter

rs_913561874

1 SubmittersRCV001382387

NM_000251.3(MSH2):c.1511-2A>C

SNV
Germline

Chr2:47466656

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_267607962

3 SubmittersRCV001384780 RCV002395870 RCV003450063

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

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

rs_746306598

2 SubmittersRCV001387656 RCV003450077

NM_000179.3(MSH6):c.333C>G (p.Tyr111Ter)

SNV
Germline

Chr2:47790999

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

rs_786202772

3 SubmittersRCV001390264 RCV002322373 RCV003451690

NM_000179.3(MSH6):c.2974G>T (p.Glu992Ter)

SNV
Germline

Chr2:47800957

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_774755404

3 SubmittersRCV001381422 RCV002438887 RCV004017826

NM_014159.7(SETD2):c.6069T>A (p.Tyr2023Ter)

SNV
Germline

Chr3:47067110

Pathogenic

Luscan-Lumish syndrome

Criteria Provided
Single Submitter

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

rs_2107651058

1 SubmittersRCV001386079

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

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

rs_267608172

2 SubmittersRCV001387075 RCV003450073

NM_000535.7(PMS2):c.1557T>G (p.Tyr519Ter)

SNV
Germline

Chr7:5987208

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_6972869

3 SubmittersRCV001387397 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

rs_1583387894

2 SubmittersRCV001386402 RCV004017829

NM_024426.6(WT1):c.798C>G (p.Tyr266Ter)

SNV
Germline

Chr11:32428045

Pathogenic

Drash syndrome
Frasier syndrome
Wilms tumor 1
11p partial monosomy syndrome

Criteria Provided
Single Submitter

rs_2133073037

1 SubmittersRCV001390720

NM_015272.5(RPGRIP1L):c.2093T>G (p.Leu698Ter)

SNV
Germline

Chr16:53652594

Pathogenic/Likely pathogenic

Meckel-Gruber syndrome
Familial aplasia of the vermis
Joubert syndrome 7
COACH syndrome 3
Meckel syndrome, type 5

Criteria Provided
Multiple Submitters
No Conflicts

rs_201081228

2 SubmittersRCV001385484 RCV002476728

NM_015272.5(RPGRIP1L):c.1372G>T (p.Glu458Ter)

SNV
Germline

Chr16:53658443

Pathogenic/Likely pathogenic

Familial aplasia of the vermis
Meckel-Gruber syndrome
Condition: not provided
Joubert syndrome 7
COACH syndrome 3
Meckel syndrome, type 5

Criteria Provided
Multiple Submitters
No Conflicts

rs_776941281

4 SubmittersRCV001384296 RCV001562284 RCV002476726

NM_000377.3(WAS):c.1453+2T>G

SNV
Germline

ChrX:48689436

Pathogenic

Thrombocytopenia 1
Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia

Criteria Provided
Single Submitter

rs_2147267350

1 SubmittersRCV001387958

NM_014159.7(SETD2):c.1849C>T (p.Pro617Ser)

SNV
Germline

Chr3:47122787

Conflicting classifications of pathogenicity

Luscan-Lumish syndrome

Criteria Provided
Conflicting Classifications

rs_372521251

2 SubmittersRCV001419782

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

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

rs_927604495

2 SubmittersRCV001419301 RCV003264033

NM_001379500.1(COL18A1):c.107-11987C>A

SNV
Germline

Chr21:45456255

Likely pathogenic

Knobloch syndrome

Criteria Provided
Single Submitter

rs_757523045

1 SubmittersRCV001420592

NM_004958.4(MTOR):c.2857G>A (p.Val953Met)

SNV
Germline

Chr1:11228841

Conflicting classifications of pathogenicity

Condition: not provided
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
MTOR-related disorder

Criteria Provided
Conflicting Classifications

rs_140269225

4 SubmittersRCV001439812 RCV003458706 RCV003955957

NM_024426.6(WT1):c.1448-7T>C

SNV
Germline

Chr11:32389186

Conflicting classifications of pathogenicity

Drash syndrome
Frasier syndrome
Wilms tumor 1
11p partial monosomy syndrome
Hereditary cancer-predisposing syndrome
Wilms tumor 1

Criteria Provided
Conflicting Classifications

rs_1392191365

3 SubmittersRCV001448308 RCV002258262 RCV004007044

NM_000377.3(WAS):c.1280C>T (p.Pro427Leu)

SNV
Germline

ChrX:48689008

Conflicting classifications of pathogenicity

Thrombocytopenia 1
Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

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

Criteria Provided
Conflicting Classifications

rs_2148521621

2 SubmittersRCV001454810 RCV004007053

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

rs_368132877

3 SubmittersRCV001462584 RCV003434248

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

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

Criteria Provided
Conflicting Classifications

rs_758445380

3 SubmittersRCV001525821 RCV001597290 RCV004008875

NM_006218.4(PIK3CA):c.344G>C (p.Arg115Pro)

SNV
Germline/somatic

Chr3:179199169

Likely pathogenic

CLAPO syndrome
MACRODACTYLY, SOMATIC
Megalencephaly-capillary malformation-polymicrogyria syndrome
PIK3CA-related disorder
PIK3CA related overgrowth syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_200018596

4 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

rs_1242945375

2 SubmittersRCV001526504 RCV003234076

NM_022552.5(DNMT3A):c.1757G>T (p.Cys586Phe)

SNV
Germline

Chr2:25244249

Pathogenic

Tatton-Brown-Rahman overgrowth syndrome

Criteria Provided
Single Submitter

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

rs_761175955

3 SubmittersRCV001882603 RCV001814446

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

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 cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

rs_2104185998

5 SubmittersRCV001544966 RCV001806235 RCV001859363 RCV004008923

NM_022552.5(DNMT3A):c.835G>A (p.Asp279Asn)

SNV
Germline

Chr2:25248057

Conflicting classifications of pathogenicity

Condition: not provided
Tatton-Brown-Rahman overgrowth syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_1203141216

3 SubmittersRCV001550708 RCV002568322 RCV002570687

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

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

rs_587782074

3 SubmittersRCV001559122 RCV002568385 RCV003470864

NM_006218.4(PIK3CA):c.277C>T (p.Arg93Trp)

SNV
Germline

Chr3:179199102

Pathogenic/Likely pathogenic

Condition: not provided
PIK3CA related overgrowth syndrome
PIK3CA-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_1724342112

3 SubmittersRCV001563115 RCV002271660 RCV004528517

NM_022552.5(DNMT3A):c.1851+3G>C

SNV
Unknown

Chr2:25244152

Likely pathogenic

Tatton-Brown-Rahman overgrowth syndrome

Criteria Provided
Single Submitter

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

rs_148016422

1 SubmittersRCV001564052

NM_000251.3(MSH2):c.942+3A>C

SNV
Germline

Chr2:47414421

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

rs_193922376

5 SubmittersRCV001565948 RCV002449370 RCV003451813 RCV001859406

NM_001127222.2(CACNA1A):c.3365G>A (p.Arg1122His)

SNV
Germline

Chr19:13286691

Conflicting classifications of pathogenicity

Condition: not provided
SUDDEN INFANT DEATH SYNDROME
Episodic ataxia type 2
Developmental and epileptic encephalopathy, 42

Criteria Provided
Conflicting Classifications

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

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 2E
PCWH syndrome
Waardenburg syndrome type 4C

Criteria Provided
Conflicting Classifications

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

rs_2108429272

3 SubmittersRCV001577605 RCV002472380

NM_003172.4(SURF1):c.491C>T (p.Thr164Ile)

SNV
Germline

Chr9:133353773

Conflicting classifications of pathogenicity

Condition: not provided
Mitochondrial complex IV deficiency, nuclear type 1
Leigh syndrome

Criteria Provided
Conflicting Classifications

rs_782214884

3 SubmittersRCV001589557 RCV003106238 RCV001866121

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

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

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

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

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

rs_2100477650

1 SubmittersRCV001837036

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

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
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

rs_2104431856

2 SubmittersRCV001732814 RCV003451869

NM_000251.3(MSH2):c.2275G>A (p.Gly759Arg)

SNV
Germline

Chr2:47478336

Conflicting classifications of pathogenicity

Condition: not provided
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

rs_63749854

2 SubmittersRCV001763145 RCV004040161

NM_001378615.1(CC2D2A):c.932A>G (p.Asp311Gly)

SNV
Germline

Chr4:15515919

Conflicting classifications of pathogenicity

Condition: not provided
Familial aplasia of the vermis
Meckel-Gruber syndrome
Retinitis pigmentosa 93
Joubert syndrome 9
COACH syndrome 2
Meckel syndrome, type 6

Criteria Provided
Conflicting Classifications

rs_375247004

3 SubmittersRCV001753222 RCV001868722 RCV002478000

NM_000535.7(PMS2):c.1624A>C (p.Thr542Pro)

SNV
Germline

Chr7:5987141

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Ovarian cancer
Lynch syndrome

Criteria Provided
Conflicting Classifications

rs_1425816147

5 SubmittersRCV001768213 RCV002540683 RCV002405310 RCV003154042 RCV004009037

NM_000179.3(MSH6):c.1453C>T (p.Gln485Ter)

SNV
Germline

Chr2:47799436

Likely pathogenic

Lynch syndrome

Criteria Provided
Single Submitter

rs_1114167803

1 SubmittersRCV001775048

NM_000179.3(MSH6):c.4001+1G>A

SNV
Germline

Chr2:47806652

Conflicting classifications of pathogenicity

Lynch syndrome 5
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

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

rs_759936287

1 SubmittersRCV001775240

NM_003172.4(SURF1):c.867G>A (p.Trp289Ter)

SNV
Germline

Chr9:133351949

Pathogenic

Leigh syndrome

Criteria Provided
Single Submitter

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

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 1 deficiency, nuclear type 16

Criteria Provided
Multiple Submitters
No Conflicts

rs_368690277

4 SubmittersRCV001779523 RCV002307759 RCV003470897

NM_000179.3(MSH6):c.3982C>T (p.Gln1328Ter)

SNV
Germline

Chr2:47806632

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

rs_2104567084

4 SubmittersRCV001784680 RCV002359254 RCV003451930

NM_022552.5(DNMT3A):c.1554+1G>A

SNV
Germline

Chr2:25245252

Likely pathogenic

Tatton-Brown-Rahman overgrowth syndrome

Criteria Provided
Single Submitter

rs_766110518

1 SubmittersRCV003832391

NM_153704.6(TMEM67):c.2374A>G (p.Arg792Gly)

SNV
Germline

Chr8:93804813

Conflicting classifications of pathogenicity

Joubert syndrome 6
6 conditions
COACH syndrome 1
Meckel-Gruber syndrome
Familial aplasia of the vermis

Criteria Provided
Conflicting Classifications

rs_1815059174

4 SubmittersRCV001785366 RCV002478013 RCV002478012 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

Criteria Provided
Conflicting Classifications

rs_1697296215

2 SubmittersRCV001787410 RCV002422851

NM_000335.5(SCN5A):c.3837+12C>T

SNV
Germline

Chr3:38566397

Conflicting classifications of pathogenicity

SUDDEN INFANT DEATH SYNDROME
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_368550655

2 SubmittersRCV001787416 RCV003541667

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

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

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

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
Single Submitter

rs_2104420229

2 SubmittersRCV001789723 RCV002280190

NC_012920.1(MT-ND1):m.3685T>C

SNV
Germline

ChrMT:3685

Likely pathogenic

Leigh syndrome

No Assertion Criteria Provided

rs_1603219079

1 SubmittersRCV001797044

NM_003172.4(SURF1):c.575G>A (p.Arg192Gln)

SNV
Germline

Chr9:133352707

Conflicting classifications of pathogenicity

Leigh syndrome
Charcot-Marie-Tooth disease type 4K
Mitochondrial complex IV deficiency, nuclear type 1
Mitochondrial complex IV deficiency, nuclear type 1

Criteria Provided
Conflicting Classifications

rs_782021521

4 SubmittersRCV001797902 RCV002503285 RCV002246514

NM_006941.4(SOX10):c.395C>G (p.Ala132Gly)

SNV
Germline

Chr22:37983390

Pathogenic

PCWH syndrome

Criteria Provided
Single Submitter

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

rs_2145761680

1 SubmittersRCV001799541

NM_000251.3(MSH2):c.351G>A (p.Trp117Ter)

SNV
Germline

Chr2:47408540

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1558457486

5 SubmittersRCV001801163 RCV002458615 RCV002544386 RCV003451942

NM_022552.5(DNMT3A):c.2322+1G>A

SNV
Germline

Chr2:25240301

Pathogenic

Tatton-Brown-Rahman overgrowth syndrome

Criteria Provided
Single Submitter

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

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

rs_765201464

3 SubmittersRCV001804483 RCV001869513 RCV004009091

NM_000535.7(PMS2):c.163+1G>T

SNV
Germline

Chr7:6005891

Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_1064795705

3 SubmittersRCV001805683 RCV002541442 RCV003451950

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

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

rs_1327470716

1 SubmittersRCV001813903

NM_001376571.1(MADD):c.1291-2A>G

SNV
Germline

Chr11:47281573

Likely pathogenic

Deeah syndrome
Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia

Criteria Provided
Single Submitter

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

rs_766120355

1 SubmittersRCV001814943

NM_000377.3(WAS):c.1150C>T (p.Pro384Ser)

SNV
Germline

ChrX:48688878

Conflicting classifications of pathogenicity

not specified
Thrombocytopenia 1
X-linked severe congenital neutropenia
Wiskott-Aldrich syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_782761074

4 SubmittersRCV001817169 RCV002489869 RCV003883705

NM_022552.5(DNMT3A):c.1385C>T (p.Ala462Val)

SNV
Germline

Chr2:25246204

Conflicting classifications of pathogenicity

not specified
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A-related disorder

Criteria Provided
Conflicting Classifications

rs_200845575

3 SubmittersRCV001819492 RCV002542576 RCV003968578

NM_014159.7(SETD2):c.3168G>A (p.Ser1056=)

SNV
Germline

Chr3:47121468

Conflicting classifications of pathogenicity

not specified
Rabin-Pappas syndrome
Intellectual developmental disorder, autosomal dominant 70
Luscan-Lumish syndrome
SETD2-related disorder

Criteria Provided
Conflicting Classifications

rs_768944836

3 SubmittersRCV001822548 RCV003224583 RCV004536343

NM_000377.3(WAS):c.192G>A (p.Trp64Ter)

SNV
Germline

ChrX:48684342

Pathogenic

Condition: not provided
Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia
Thrombocytopenia 1

Criteria Provided
Multiple Submitters
No Conflicts

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

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 nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

rs_876658582

4 SubmittersRCV001823604 RCV001869818 RCV002388685 RCV004009163

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

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

rs_779064342

2 SubmittersRCV001999638 RCV003453954

NM_024426.6(WT1):c.459C>T (p.Gly153=)

SNV
Germline

Chr11:32434902

Conflicting classifications of pathogenicity

Wilms tumor 1
11p partial monosomy syndrome
Frasier syndrome
Drash syndrome
8 conditions

Criteria Provided
Conflicting Classifications

rs_1309250331

2 SubmittersRCV001913745 RCV002507027

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

rs_782437393

2 SubmittersRCV001986990 RCV003107937

NM_000179.3(MSH6):c.1237T>C (p.Trp413Arg)

SNV
Germline

Chr2:47799220

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

rs_2104330278

2 SubmittersRCV002012824 RCV003453943

NM_015272.5(RPGRIP1L):c.3717G>A (p.Val1239=)

SNV
Germline

Chr16:53605599

Conflicting classifications of pathogenicity

Familial aplasia of the vermis
Meckel-Gruber syndrome
COACH syndrome 3
Joubert syndrome 7
Meckel syndrome, type 5

Criteria Provided
Conflicting Classifications

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

rs_757957751

3 SubmittersRCV001893836 RCV002343987 RCV004010817

NM_024426.6(WT1):c.887+19C>G

SNV
Germline

Chr11:32427937

Conflicting classifications of pathogenicity

Wilms tumor 1
Frasier syndrome
11p partial monosomy syndrome
Drash syndrome
8 conditions

Criteria Provided
Conflicting Classifications

rs_755113185

2 SubmittersRCV001949784 RCV002507596

NM_000540.3(RYR1):c.14130-2A>G

SNV
Germline

Chr19:38575917

Conflicting classifications of pathogenicity

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
Condition: not provided
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

rs_1457662393

4 SubmittersRCV001941795 RCV002497871 RCV003325593 RCV004010985

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

rs_778741297

3 SubmittersRCV001941822 RCV003453860 RCV003471154

NM_024426.6(WT1):c.661+15G>T

SNV
Germline

Chr11:32434685

Conflicting classifications of pathogenicity

Wilms tumor 1
Frasier syndrome
Drash syndrome
11p partial monosomy syndrome
8 conditions

Criteria Provided
Conflicting Classifications

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

rs_878853724

4 SubmittersRCV001938491 RCV002509719 RCV002441040 RCV003452162

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

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

rs_757110564

3 SubmittersRCV002013192 RCV002386875 RCV003453948

NM_024426.6(WT1):c.785-7T>G

SNV
Germline

Chr11:32428065

Conflicting classifications of pathogenicity

Wilms tumor 1
11p partial monosomy syndrome
Frasier syndrome
Drash syndrome
Wilms tumor 1

Criteria Provided
Conflicting Classifications

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

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

rs_866917013

1 SubmittersRCV002046908

NM_003172.4(SURF1):c.577C>T (p.Gln193Ter)

SNV
Germline

Chr9:133352705

Pathogenic

Leigh syndrome

Criteria Provided
Single Submitter

rs_782420522

1 SubmittersRCV001902056

NM_000251.3(MSH2):c.114C>A (p.Asp38Glu)

SNV
Germline

Chr2:47403305

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

rs_587779074

2 SubmittersRCV002022770 RCV003316859

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

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
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

rs_1667495338

3 SubmittersRCV001971429 RCV003493902 RCV004556846

NM_018344.6(SLC29A3):c.300+2T>C

SNV
Germline

Chr10:71323056

Pathogenic

H syndrome

Criteria Provided
Single Submitter

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

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

rs_2107696360

1 SubmittersRCV001993212

NM_015272.5(RPGRIP1L):c.599T>G (p.Leu200Ter)

SNV
Germline

Chr16:53687896

Pathogenic/Likely pathogenic

Familial aplasia of the vermis
Meckel-Gruber syndrome
COACH syndrome 3
Joubert syndrome 7
Meckel syndrome, type 5

Criteria Provided
Multiple Submitters
No Conflicts

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553332772

3 SubmittersRCV001974193 RCV002243498

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
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

rs_764835191

4 SubmittersRCV001924322 RCV002361252 RCV003464246 RCV004010906

NM_000251.3(MSH2):c.2356G>T (p.Glu786Ter)

SNV
Germline

Chr2:47478417

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_2104405386

3 SubmittersRCV002442943 RCV002000129 RCV003453852

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

rs_767090801

2 SubmittersRCV002004102 RCV002290834

NM_000377.3(WAS):c.373G>C (p.Gly125Arg)

SNV
Germline

ChrX:48685746

Likely pathogenic

X-linked severe congenital neutropenia
Wiskott-Aldrich syndrome
Thrombocytopenia 1

Criteria Provided
Single Submitter

rs_2147263882

1 SubmittersRCV002004114

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

rs_1553413707

3 SubmittersRCV001941846 RCV003453861 RCV003365601

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

rs_773495153

2 SubmittersRCV001931182 RCV003167284

NM_000179.3(MSH6):c.37A>T (p.Lys13Ter)

SNV
Germline

Chr2:47783270

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

rs_942019524

2 SubmittersRCV002002526 RCV003453856

NM_000179.3(MSH6):c.1095G>A (p.Trp365Ter)

SNV
Germline

Chr2:47799078

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

rs_1272484865

3 SubmittersRCV001941526 RCV003170170 RCV003453857

NM_000535.7(PMS2):c.1575G>T (p.Gly525=)

SNV
Germline

Chr7:5987190

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

rs_1783045939

3 SubmittersRCV002041508 RCV002397769 RCV004009174

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

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

rs_1166563034

1 SubmittersRCV002005556

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

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

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

rs_1268933712

3 SubmittersRCV001911997 RCV002397820 RCV003464197

NM_024426.6(WT1):c.1240C>T (p.Gln414Ter)

SNV
Germline

Chr11:32396281

Pathogenic

Wilms tumor 1
11p partial monosomy syndrome
Frasier syndrome
Drash syndrome

Criteria Provided
Single Submitter

rs_2132939500

1 SubmittersRCV001956051

NM_000179.3(MSH6):c.3247G>T (p.Glu1083Ter)

SNV
Germline

Chr2:47803494

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_763844573

3 SubmittersRCV001949390 RCV003453879 RCV002324407

NM_000179.3(MSH6):c.2758A>T (p.Lys920Ter)

SNV
Germline

Chr2:47800741

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

rs_2104422674

2 SubmittersRCV001972767 RCV003453880

NM_000535.7(PMS2):c.325G>T (p.Glu109Ter)

SNV
Germline

Chr7:6003718

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

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

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

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

rs_587780054

3 SubmittersRCV001950116 RCV002442892 RCV003452185

NM_003172.4(SURF1):c.74G>A (p.Trp25Ter)

SNV
Germline

Chr9:133356301

Pathogenic/Likely pathogenic

Leigh syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1187982748

3 SubmittersRCV001951384 RCV002275298

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

rs_1553368707

3 SubmittersRCV002047131 RCV002422898 RCV003451983

NM_000535.7(PMS2):c.4G>T (p.Glu2Ter)

SNV
Germline

Chr7:6009016

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_1554309080

3 SubmittersRCV001958693 RCV002334976 RCV003453883

NM_022552.5(DNMT3A):c.2678G>A (p.Trp893Ter)

SNV
Germline

Chr2:25234340

Pathogenic

Tatton-Brown-Rahman overgrowth syndrome

Criteria Provided
Single Submitter

rs_750515748

1 SubmittersRCV002030720

NM_015272.5(RPGRIP1L):c.2958+1G>T

SNV
Germline

Chr16:53641032

Likely pathogenic

Meckel-Gruber syndrome
Familial aplasia of the vermis
Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

rs_2151056579

2 SubmittersRCV002018582 RCV002498050

NM_000377.3(WAS):c.1388C>T (p.Ser463Leu)

SNV
Germline

ChrX:48689369

Conflicting classifications of pathogenicity

Thrombocytopenia 1
Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

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

Criteria Provided
Conflicting Classifications

rs_1244752544

3 SubmittersRCV001906739 RCV002370498 RCV004010840

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

Criteria Provided
Conflicting Classifications

rs_376560886

2 SubmittersRCV001965751

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

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
PCWH syndrome
Waardenburg syndrome type 2E
Waardenburg syndrome type 4C

Criteria Provided
Multiple Submitters
No Conflicts

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

rs_2107739635

1 SubmittersRCV001984731

NM_024426.6(WT1):c.1016+1G>A

SNV
Germline

Chr11:32416489

Likely pathogenic

Wilms tumor 1
Frasier syndrome
Drash syndrome
11p partial monosomy syndrome

Criteria Provided
Single Submitter

rs_2133032244

1 SubmittersRCV002043484

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

rs_2147263906

1 SubmittersRCV001928082

NM_024426.6(WT1):c.1016+2T>G

SNV
Germline

Chr11:32416488

Likely pathogenic

Wilms tumor 1
Frasier syndrome
Drash syndrome
11p partial monosomy syndrome

Criteria Provided
Single Submitter

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

rs_774586054

3 SubmittersRCV002027023 RCV002425429 RCV004011154

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

rs_1667303602

3 SubmittersRCV001983983 RCV002423208 RCV003453939

NM_000377.3(WAS):c.1339-2A>G

SNV
Germline

ChrX:48689318

Pathogenic/Likely pathogenic

Wiskott-Aldrich syndrome
Thrombocytopenia 1
X-linked severe congenital neutropenia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

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

rs_2147265861

1 SubmittersRCV002052149

NM_003172.4(SURF1):c.324-11T>C

SNV
Germline

Chr9:133353951

Conflicting classifications of pathogenicity

Leigh syndrome
not specified

Criteria Provided
Conflicting Classifications

rs_375398247

2 SubmittersRCV002123111 RCV003323991

NM_000249.4(MLH1):c.2128A>G (p.Asn710Asp)

SNV
Germline

Chr3:37050510

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome

Criteria Provided
Conflicting Classifications

rs_1559595840

3 SubmittersRCV002168468 RCV003464405 RCV004005416

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

rs_1564975924

2 SubmittersRCV002130925 RCV002258387

NM_014159.7(SETD2):c.650C>A (p.Thr217Lys)

SNV
Germline

Chr3:47123986

Conflicting classifications of pathogenicity

Luscan-Lumish syndrome
SETD2-related disorder

Criteria Provided
Conflicting Classifications

rs_1482249689

2 SubmittersRCV002125002 RCV004543827

NM_024426.6(WT1):c.66G>T (p.Thr22=)

SNV
Germline

Chr11:32435295

Conflicting classifications of pathogenicity

Drash syndrome
Wilms tumor 1
11p partial monosomy syndrome
Frasier syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1214646426

2 SubmittersRCV002076838 RCV002258362

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

2 SubmittersRCV002286587 RCV003445147

NM_017446.4(MRPL39):c.589-924G>A

SNV
Germline

Chr21:25598338

Likely pathogenic

Leigh syndrome
Combined oxidative phosphorylation deficiency 59

Criteria Provided
Single Submitter

rs_1209423257

3 SubmittersRCV002286589 RCV003445149

NM_003172.4(SURF1):c.22C>T (p.Gln8Ter)

SNV
Germline

Chr9:133356432

Likely pathogenic

Leigh syndrome

Criteria Provided
Single Submitter

rs_1836590782

1 SubmittersRCV002222921

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

rs_2147534220

2 SubmittersRCV002223037 RCV003660912

NM_022552.5(DNMT3A):c.1978T>C (p.Tyr660His)

SNV
Germline

Chr2:25241666

Likely pathogenic

Tatton-Brown-Rahman overgrowth syndrome
Autism spectrum disorder
Condition: not provided

Criteria Provided
Single Submitter

rs_1674056899

2 SubmittersRCV002226414 RCV003238890

NM_003172.4(SURF1):c.833+1G>C

SNV
Germline

Chr9:133352060

Pathogenic/Likely pathogenic

Leigh syndrome

Criteria Provided
Multiple Submitters
No Conflicts

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

rs_2147262523

1 SubmittersRCV002245338

NM_000377.3(WAS):c.16A>G (p.Met6Val)

SNV
Germline

ChrX:48683869

Conflicting classifications of pathogenicity

not specified
Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia
Thrombocytopenia 1

Criteria Provided
Conflicting Classifications

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

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

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

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

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_2108429509

2 SubmittersRCV003157111

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

rs_1553350883

3 SubmittersRCV002257137 RCV004005557

NM_018344.6(SLC29A3):c.400C>T (p.Arg134Cys)

SNV
Germline

Chr10:71351578

Likely pathogenic

H syndrome

Criteria Provided
Single Submitter

rs_1430557607

1 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

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

rs_1555055083

1 SubmittersRCV002267183

NM_002577.4(PAK2):c.1303G>A (p.Glu435Lys)

SNV
Germline

Chr3:196820520

Pathogenic

Knobloch syndrome

No Assertion Criteria Provided

rs_2108773003

1 SubmittersRCV002267712

NM_022552.5(DNMT3A):c.1243C>T (p.Gln415Ter)

SNV
Germline

Chr2:25246656

Pathogenic

Tatton-Brown-Rahman overgrowth syndrome

Criteria Provided
Single Submitter

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

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

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

2 SubmittersRCV002290230 RCV003454080

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

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

2 SubmittersRCV002325929 RCV003454099

NM_000179.3(MSH6):c.1129A>T (p.Lys377Ter)

SNV
Germline

Chr2:47799112

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002325978 RCV003316863

NM_000179.3(MSH6):c.3556+2T>G

SNV
Germline

Chr2:47805029

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV002339752 RCV003454120 RCV004017924

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

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

2 SubmittersRCV002349017 RCV003464455

NM_000179.3(MSH6):c.3198T>G (p.Tyr1066Ter)

SNV
Germline

Chr2:47803445

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV002443338 RCV003759103 RCV003454102

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

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

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

Criteria Provided
Multiple Submitters
No Conflicts

4 SubmittersRCV002452437 RCV003234799 RCV004572257

NM_000179.3(MSH6):c.3646+2T>G

SNV
Germline

Chr2:47805709

Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002346632 RCV003454129

NM_000179.3(MSH6):c.3801+1G>A

SNV
Germline

Chr2:47806359

Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002363966 RCV003454137

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

2 SubmittersRCV002332176 RCV003454151

NM_000535.7(PMS2):c.433C>T (p.Gln145Ter)

SNV
Germline

Chr7:6002557

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002332183 RCV004005657

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

2 SubmittersRCV002460281 RCV003454122

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

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

2 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

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

2 SubmittersRCV002330372 RCV003454155

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

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

2 SubmittersRCV002335808 RCV003454161

NM_000535.7(PMS2):c.1204C>T (p.Gln402Ter)

SNV
Germline

Chr7:5987561

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV002344708 RCV003454169 RCV004017926

NM_000179.3(MSH6):c.585T>G (p.Val195=)

SNV
Germline

Chr2:47796021

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002353406 RCV004005707

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

2 SubmittersRCV002378173 RCV003454186

NM_000251.3(MSH2):c.793-1G>C

SNV
Germline

Chr2:47414268

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV002416795 RCV003099794 RCV003454202

NM_000251.3(MSH2):c.793-1G>T

SNV
Germline

Chr2:47414268

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV002416796 RCV003454203 RCV003103457

NM_000251.3(MSH2):c.793-2A>T

SNV
Germline

Chr2:47414267

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002416800 RCV003454204

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

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

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

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

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

3 SubmittersRCV002385287 RCV003094840 RCV003464502

NM_000535.7(PMS2):c.706-1G>T

SNV
Germline

Chr7:5997424

Likely pathogenic

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

4 SubmittersRCV003491098 RCV003594236 RCV002365051 RCV004017928

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

3 SubmittersRCV002374237 RCV003454228 RCV003594249

NM_000251.3(MSH2):c.952G>T (p.Glu318Ter)

SNV
Germline

Chr2:47416305

Pathogenic

Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002467459 RCV002374249

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

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

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

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

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

3 SubmittersRCV002412438 RCV003454210 RCV003594241

NM_000251.3(MSH2):c.1276G>T (p.Gly426Ter)

SNV
Germline

Chr2:47429941

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV002371717 RCV003454226 RCV003100152

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

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

2 SubmittersRCV002387094 RCV004007293

NM_000251.3(MSH2):c.1357A>G (p.Met453Val)

SNV
Germline

Chr2:47445628

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002383379 RCV003759669 RCV004572408

NM_000251.3(MSH2):c.1433T>G (p.Leu478Arg)

SNV
Germline

Chr2:47463077

Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002392126 RCV003454250

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

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

2 SubmittersRCV002392193 RCV003454254

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

3 SubmittersRCV002398363 RCV003454257

NM_000535.7(PMS2):c.1675G>T (p.Gly559Ter)

SNV
Germline

Chr7:5987090

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV002414507 RCV003454270

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

2 SubmittersRCV002387394 RCV004007294

NM_000535.7(PMS2):c.993C>A (p.Cys331Ter)

SNV
Germline

Chr7:5989951

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV002382880 RCV003454235

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

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002387717 RCV003095000 RCV004572406

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

3 SubmittersRCV002405387 RCV004007332 RCV003759682

NM_000179.3(MSH6):c.1564C>T (p.Gln522Ter)

SNV
Germline

Chr2:47799547

Pathogenic

Lynch syndrome 5
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003454255 RCV002405490

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

2 SubmittersRCV002410096 RCV003316870

NM_000179.3(MSH6):c.1810G>T (p.Glu604Ter)

SNV
Germline

Chr2:47799793

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV002410175 RCV003759698 RCV003454289

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

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

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

4 SubmittersRCV002396935 RCV002467460 RCV004017932

NM_000535.7(PMS2):c.1552G>T (p.Glu518Ter)

SNV
Germline

Chr7:5987213

Pathogenic/Likely pathogenic

Lynch syndrome 4
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003464523 RCV002403400

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

2 SubmittersRCV002407804 RCV003454286

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

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

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

2 SubmittersRCV002398771 RCV003454260

NM_000179.3(MSH6):c.1777C>T (p.Gln593Ter)

SNV
Germline

Chr2:47799760

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002404010 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

3 SubmittersRCV002413042 RCV003454291 RCV004572444

NM_000251.3(MSH2):c.1829A>C (p.His610Pro)

SNV
Germline

Chr2:47475094

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome
not specified

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002410486 RCV003482411 RCV003493949

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

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

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

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002422071 RCV003454322

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
Lynch syndrome

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002417908 RCV003121033 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

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

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

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

2 SubmittersRCV002446153 RCV003455460

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 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

4 SubmittersRCV002450225 RCV003101788 RCV003455467 RCV004007426

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

2 SubmittersRCV002459642 RCV003455468

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

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

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

3 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
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

4 SubmittersRCV002413291 RCV003320891 RCV003774574 RCV004007380

NM_000179.3(MSH6):c.194C>A (p.Ser65Ter)

SNV
Germline

Chr2:47783427

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV002421497 RCV003454307 RCV003097376

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

2 SubmittersRCV002428420 RCV003454336

NM_000179.3(MSH6):c.260+2T>G

SNV
Germline

Chr2:47783495

Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV002426247 RCV004017936 RCV003455484

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

2 SubmittersRCV002417256 RCV003454314

NM_000535.7(PMS2):c.2007-1G>C

SNV
Germline

Chr7:5982992

Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

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

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

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

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

3 SubmittersRCV002419744 RCV002469477 RCV004017934

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

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

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

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

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

2 SubmittersRCV002430718 RCV003455473

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

2 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

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

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

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

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

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

2 SubmittersRCV002455832 RCV003455483

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

3 SubmittersRCV002441865 RCV003455505

NM_000179.3(MSH6):c.290G>A (p.Trp97Ter)

SNV
Germline

Chr2:47790956

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002439818 RCV003455501

NM_000179.3(MSH6):c.3040A>T (p.Lys1014Ter)

SNV
Germline

Chr2:47801023

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002444006 RCV003455514

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

2 SubmittersRCV002444102 RCV004017937

NM_022552.5(DNMT3A):c.2186G>A (p.Arg729Gln)

SNV
Germline

Chr2:25240438

Likely pathogenic

Tatton-Brown-Rahman overgrowth syndrome

Criteria Provided
Single Submitter

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

1 SubmittersRCV002463850 RCV002508981

NM_153704.6(TMEM67):c.1847C>A (p.Ala616Asp)

SNV
Germline

Chr8:93795974

Likely pathogenic

COACH syndrome 1

Criteria Provided
Single Submitter

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

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

2 SubmittersRCV002471452

NM_000377.3(WAS):c.383T>C (p.Phe128Ser)

SNV
Germline

ChrX:48685756

Pathogenic/Likely pathogenic

Condition: not provided
Thrombocytopenia 1
Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002508888 RCV003775557

NM_003172.4(SURF1):c.589-1G>C

SNV
Germline

Chr9:133352609

Pathogenic

Leigh syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003058239

NM_018344.6(SLC29A3):c.1+2T>G

SNV
Germline

Chr10:71319312

Likely pathogenic

H syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003062269

NM_024426.6(WT1):c.1372T>C (p.Cys458Arg)

SNV
Germline

Chr11:32392047

Pathogenic

Drash syndrome
Wilms tumor 1
11p partial monosomy syndrome
Frasier syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003062358

NM_000377.3(WAS):c.58C>T (p.Gln20Ter)

SNV
Germline

ChrX:48683911

Pathogenic

X-linked severe congenital neutropenia
Thrombocytopenia 1
Wiskott-Aldrich syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003064718

NM_000377.3(WAS):c.264C>A (p.Tyr88Ter)

SNV
Germline

ChrX:48684414

Pathogenic

X-linked severe congenital neutropenia
Thrombocytopenia 1
Wiskott-Aldrich syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003041444

NM_000377.3(WAS):c.302T>C (p.Leu101Pro)

SNV
Germline

ChrX:48685575

Pathogenic

X-linked severe congenital neutropenia
Thrombocytopenia 1
Wiskott-Aldrich syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003041445

NM_000377.3(WAS):c.319T>C (p.Tyr107His)

SNV
Germline

ChrX:48685592

Pathogenic

X-linked severe congenital neutropenia
Thrombocytopenia 1
Wiskott-Aldrich syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003041446

NM_000377.3(WAS):c.401C>T (p.Ala134Val)

SNV
Germline

ChrX:48685774

Pathogenic

X-linked severe congenital neutropenia
Thrombocytopenia 1
Wiskott-Aldrich syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003064719

NM_003172.4(SURF1):c.821A>G (p.Tyr274Cys)

SNV
Germline

Chr9:133352073

Pathogenic

Leigh syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002585428

NM_024426.6(WT1):c.261C>A (p.Ala87=)

SNV
Germline

Chr11:32435100

Conflicting classifications of pathogenicity

Wilms tumor 1
11p partial monosomy syndrome
Frasier syndrome
Drash syndrome
WT1-related disorder

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002595334 RCV004550417

NM_024426.6(WT1):c.392C>T (p.Pro131Leu)

SNV
Germline

Chr11:32434969

Conflicting classifications of pathogenicity

Drash syndrome
Frasier syndrome
Wilms tumor 1
11p partial monosomy syndrome
Nephrotic syndrome, type 4

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002592136 RCV004577571

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

2 SubmittersRCV002651442 RCV003222461

NM_003172.4(SURF1):c.55-5C>T

SNV
Germline

Chr9:133356325

Conflicting classifications of pathogenicity

not specified
Leigh syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002510346 RCV002571597

NM_000251.3(MSH2):c.1757C>A (p.Ser586Ter)

SNV
Germline

Chr2:47471060

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Muir-Torré syndrome
Lynch syndrome 1
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV003112120 RCV003330111 RCV003455763

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

2 SubmittersRCV002614018 RCV003403873

NM_000251.3(MSH2):c.1661+2T>G

SNV
Germline

Chr2:47466810

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002618628 RCV003455554

NM_000251.3(MSH2):c.2599G>T (p.Glu867Ter)

SNV
Germline

Chr2:47480836

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002635267 RCV003455555

NM_003172.4(SURF1):c.769G>A (p.Gly257Arg)

SNV
Germline

Chr9:133352125

Pathogenic

Leigh syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002650257

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

2 SubmittersRCV002796574 RCV003455577

NM_000179.3(MSH6):c.628-2A>C

SNV
Germline

Chr2:47798609

Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

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

3 SubmittersRCV002815913 RCV003465840 RCV003455586

NM_000377.3(WAS):c.964G>T (p.Gly322Ter)

SNV
Germline

ChrX:48688692

Pathogenic

X-linked severe congenital neutropenia
Thrombocytopenia 1
Wiskott-Aldrich syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002829716

NM_022552.5(DNMT3A):c.1143G>A (p.Gly381=)

SNV
Germline

Chr2:25246756

Conflicting classifications of pathogenicity

Tatton-Brown-Rahman overgrowth syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002856439 RCV003491155

NM_022552.5(DNMT3A):c.629G>A (p.Trp210Ter)

SNV
Germline

Chr2:25274951

Pathogenic

Tatton-Brown-Rahman overgrowth syndrome

Criteria Provided
Single Submitter

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

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002872239 RCV003465856

NM_024426.6(WT1):c.1077C>G (p.Tyr359Ter)

SNV
Germline

Chr11:32399984

Pathogenic

Drash syndrome
Wilms tumor 1
11p partial monosomy syndrome
Frasier syndrome

Criteria Provided
Single Submitter

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

1 SubmittersRCV002871544

NM_024426.6(WT1):c.1299T>A (p.Cys433Ter)

SNV
Germline

Chr11:32392721

Pathogenic

Drash syndrome
Wilms tumor 1
11p partial monosomy syndrome
Frasier syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002885213

NM_024426.6(WT1):c.453G>A (p.Trp151Ter)

SNV
Germline

Chr11:32434908

Pathogenic

Drash syndrome
Wilms tumor 1
11p partial monosomy syndrome
Frasier syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002899411

NM_000377.3(WAS):c.765G>C (p.Gln255His)

SNV
Germline

ChrX:48688084

Conflicting classifications of pathogenicity

X-linked severe congenital neutropenia
Thrombocytopenia 1
Wiskott-Aldrich syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002933443 RCV002952500

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

2 SubmittersRCV002952788 RCV003455614

NM_003172.4(SURF1):c.751+1G>A

SNV
Germline

Chr9:133352445

Pathogenic

Leigh syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002979667

NM_000179.3(MSH6):c.3802-2A>G

SNV
Germline

Chr2:47806450

Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV003006245 RCV003455659 RCV003585329

NM_000377.3(WAS):c.735-2A>T

SNV
Germline

ChrX:48688052

Pathogenic

Thrombocytopenia 1
Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia

Criteria Provided
Single Submitter

1 SubmittersRCV003013605

NM_024426.6(WT1):c.913C>T (p.Gln305Ter)

SNV
Germline

Chr11:32417629

Pathogenic

Drash syndrome
Wilms tumor 1
11p partial monosomy syndrome
Frasier syndrome

Criteria Provided
Single Submitter

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

1 SubmittersRCV003031398

NM_000377.3(WAS):c.361-1G>C

SNV
Germline

ChrX:48685733

Pathogenic

Thrombocytopenia 1
Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia

Criteria Provided
Single Submitter

1 SubmittersRCV003051659

NM_024426.6(WT1):c.514C>T (p.Gln172Ter)

SNV
Germline

Chr11:32434847

Pathogenic

Drash syndrome
Wilms tumor 1
11p partial monosomy syndrome
Frasier syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003048353

NM_015378.4(VPS13D):c.12662+1059C>G

SNV
Germline

Chr1:12461455

Likely pathogenic

Leigh syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003110166

NM_000179.3(MSH6):c.3861T>A (p.Tyr1287Ter)

SNV
Unknown

Chr2:47806511

Pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

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

1 SubmittersRCV003140539

NM_001379500.1(COL18A1):c.2032-1G>A

SNV
Germline

Chr21:45490835

Likely pathogenic

Knobloch syndrome 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003142507 RCV003778699

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

2 SubmittersRCV003131239 RCV003455765

NM_000377.3(WAS):c.1166G>A (p.Gly389Asp)

SNV
Germline

ChrX:48688894

Conflicting classifications of pathogenicity

Condition: not provided
Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia
Thrombocytopenia 1

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003139309 RCV003778819

NM_018344.6(SLC29A3):c.2-4A>G

SNV
Unknown

Chr10:71322752

Likely pathogenic

H syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003148063

NM_006941.4(SOX10):c.671C>A (p.Ser224Ter)

SNV
Unknown

Chr22:37977893

Pathogenic

PCWH syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003148260

NC_012920.1(MT-ND5):m.12923G>A

SNV
Germline

ChrMT:12923

Likely pathogenic

Leigh syndrome
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
Leber optic atrophy

Criteria Provided
Single Submitter

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

1 SubmittersRCV003152992

NM_000377.3(WAS):c.671A>G (p.Asp224Gly)

SNV
Unknown

ChrX:48686892

Likely pathogenic

Wiskott-Aldrich syndrome

Criteria Provided
Single Submitter

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

1 SubmittersRCV003153226

NM_003172.4(SURF1):c.817C>T (p.Gln273Ter)

SNV
Germline

Chr9:133352077

Pathogenic

Leigh syndrome

Criteria Provided
Multiple Submitters
No Conflicts

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

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

3 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

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

4 SubmittersRCV003182953 RCV003459800 RCV003759798

NM_000179.3(MSH6):c.3277G>T (p.Gly1093Ter)

SNV
Germline

Chr2:47803524

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003182626 RCV003455776

NM_000377.3(WAS):c.104T>C (p.Leu35Pro)

SNV
Germline

ChrX:48683957

Likely pathogenic

Wiskott-Aldrich syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003219202

NM_017547.4(FOXRED1):c.265C>T (p.Arg89Ter)

SNV
Germline

Chr11:126271616

Likely pathogenic

Leigh syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003226822

NM_022552.5(DNMT3A):c.2597+1G>A

SNV
Germline

Chr2:25235706

Pathogenic

Tatton-Brown-Rahman overgrowth syndrome

No Assertion Criteria Provided

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

1 SubmittersRCV003227566

NM_024426.6(WT1):c.114C>G (p.Val38=)

SNV
Germline

Chr11:32435247

Conflicting classifications of pathogenicity

Condition: not provided
Wilms tumor 1
11p partial monosomy syndrome
Frasier syndrome
Drash syndrome

Criteria Provided
Conflicting Classifications

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

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

1 SubmittersRCV003233340

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

2 SubmittersRCV003278512 RCV003455790

NM_000535.7(PMS2):c.538-2A>T

SNV
Unknown

Chr7:5999277

Likely pathogenic

Lynch syndrome 4

Criteria Provided
Single Submitter

1 SubmittersRCV003316952

NM_000179.3(MSH6):c.457+1G>A

SNV
Germline

Chr2:47791124

Likely pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

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

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

1 SubmittersRCV003320345

NM_000251.3(MSH2):c.2101G>T (p.Glu701Ter)

SNV
Germline

Chr2:47476462

Pathogenic

Lynch syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003322653

NM_000251.3(MSH2):c.93C>T (p.Thr31=)

SNV
Germline

Chr2:47403284

Conflicting classifications of pathogenicity

Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003325653 RCV004009739

NM_022552.5(DNMT3A):c.2177G>T (p.Gly726Val)

SNV
Germline

Chr2:25240447

Pathogenic

Tatton-Brown-Rahman overgrowth syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003330172

NM_014159.7(SETD2):c.1771C>T (p.Gln591Ter)

SNV
Unknown

Chr3:47122865

Pathogenic

Luscan-Lumish syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003333597

NM_000179.3(MSH6):c.2788A>T (p.Lys930Ter)

SNV
Unknown

Chr2:47800771

Pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

1 SubmittersRCV003337110

NM_000535.7(PMS2):c.989-1G>C

SNV
Unknown

Chr7:5989956

Likely pathogenic

Lynch syndrome 4

Criteria Provided
Single Submitter

1 SubmittersRCV003335669

NM_000535.7(PMS2):c.1144+2T>G

SNV
Germline

Chr7:5989798

Pathogenic/Likely pathogenic

Lynch syndrome 4
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003335738 RCV003594652

NM_000179.3(MSH6):c.3438+1G>T

SNV
Unknown

Chr2:47803686

Likely pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

1 SubmittersRCV003335752

NM_000179.3(MSH6):c.1407T>G (p.Tyr469Ter)

SNV
Unknown

Chr2:47799390

Pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

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

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

2 SubmittersRCV003350722 RCV003459848

NM_000251.3(MSH2):c.897T>A (p.Tyr299Ter)

SNV
Germline

Chr2:47414373

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV003594656 RCV003350730 RCV003455811

NM_000251.3(MSH2):c.272A>C (p.Asp91Ala)

SNV
Germline

Chr2:47408461

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

3 SubmittersRCV003350732 RCV003459849

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

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

2 SubmittersRCV003438236 RCV003778454

NM_024426.6(WT1):c.384G>A (p.Ala128=)

SNV
Germline

Chr11:32434977

Conflicting classifications of pathogenicity

Condition: not provided
Wilms tumor 1
11p partial monosomy syndrome
Drash syndrome
Frasier syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003442272 RCV003778478

NM_024426.6(WT1):c.769C>T (p.Gln257Ter)

SNV
Germline

Chr11:32428512

Pathogenic

Drash syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003447756

NM_000179.3(MSH6):c.3577G>T (p.Glu1193Ter)

SNV
Germline

Chr2:47805638

Pathogenic/Likely pathogenic

Lynch syndrome 5
Endometrial carcinoma
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV003450237 RCV003459867 RCV004364745

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

2 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

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

3 SubmittersRCV003450284 RCV003466082 RCV003759854

NM_000179.3(MSH6):c.1627A>T (p.Lys543Ter)

SNV
Unknown

Chr2:47799610

Pathogenic/Likely pathogenic

Lynch syndrome 5
Endometrial carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003450428 RCV003459872

NM_004958.4(MTOR):c.5662T>C (p.Phe1888Leu)

SNV
Somatic

Chr1:11129790

Likely pathogenic

Overgrowth syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003458280

NM_000251.3(MSH2):c.1510+1G>C

SNV
Unknown

Chr2:47463155

Likely pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV003455914

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

2 SubmittersRCV003455918 RCV004364737

NM_000251.3(MSH2):c.2459-1G>T

SNV
Unknown

Chr2:47480695

Likely pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV003455919

NM_000251.3(MSH2):c.366+1G>C

SNV
Unknown

Chr2:47408556

Likely pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV003455921

NM_000251.3(MSH2):c.1811C>A (p.Ala604Asp)

SNV
Unknown

Chr2:47475076

Likely pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV003455922

NM_000251.3(MSH2):c.1714G>T (p.Glu572Ter)

SNV
Unknown

Chr2:47471017

Pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV003455926

NM_000251.3(MSH2):c.2254A>T (p.Arg752Ter)

SNV
Unknown

Chr2:47478315

Pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV003455935

NM_000251.3(MSH2):c.778G>T (p.Glu260Ter)

SNV
Unknown

Chr2:47412546

Pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV003455942

NM_000251.3(MSH2):c.679A>T (p.Arg227Ter)

SNV
Unknown

Chr2:47412447

Pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

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

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

2 SubmittersRCV003455958 RCV003594673

NM_000251.3(MSH2):c.1076+2T>A

SNV
Unknown

Chr2:47416431

Pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV003455961

NM_000251.3(MSH2):c.1076+2T>G

SNV
Unknown

Chr2:47416431

Pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV003455973

NM_000251.3(MSH2):c.2047G>C (p.Gly683Arg)

SNV
Unknown

Chr2:47476408

Pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV003455975

NM_000251.3(MSH2):c.803C>G (p.Ser268Ter)

SNV
Unknown

Chr2:47414279

Pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV003455981

NM_000251.3(MSH2):c.1115T>A (p.Leu372Ter)

SNV
Unknown

Chr2:47429780

Pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV003450102

NM_000251.3(MSH2):c.32T>A (p.Leu11Ter)

SNV
Unknown

Chr2:47403223

Pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV003450107

NM_000251.3(MSH2):c.295A>T (p.Arg99Ter)

SNV
Unknown

Chr2:47408484

Pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV003450137

NM_000251.3(MSH2):c.792+1G>T

SNV
Unknown

Chr2:47412561

Pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV003450149

NM_000251.3(MSH2):c.2257G>T (p.Gly753Ter)

SNV
Unknown

Chr2:47478318

Pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV003450153

NM_000251.3(MSH2):c.2271C>A (p.Tyr757Ter)

SNV
Unknown

Chr2:47478332

Pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV003450156

NM_000251.3(MSH2):c.773T>A (p.Leu258Ter)

SNV
Unknown

Chr2:47412541

Pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV003450166

NM_000251.3(MSH2):c.1676T>G (p.Leu559Ter)

SNV
Unknown

Chr2:47470979

Pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV003450175

NM_000251.3(MSH2):c.1127T>G (p.Leu376Ter)

SNV
Germline

Chr2:47429792

Pathogenic

Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003450180 RCV004364739

NM_000251.3(MSH2):c.839T>G (p.Leu280Ter)

SNV
Unknown

Chr2:47414315

Pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV003450185

NM_000251.3(MSH2):c.1018A>T (p.Arg340Ter)

SNV
Unknown

Chr2:47416371

Pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV003450191

NM_000179.3(MSH6):c.3438+1G>C

SNV
Unknown

Chr2:47803686

Likely pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

1 SubmittersRCV003450214

NM_000179.3(MSH6):c.261-2A>T

SNV
Unknown

Chr2:47790925

Likely pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

1 SubmittersRCV003450217

NM_000179.3(MSH6):c.3408T>G (p.Asn1136Lys)

SNV
Unknown

Chr2:47803655

Likely pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

1 SubmittersRCV003450218

NM_000179.3(MSH6):c.458-2A>C

SNV
Unknown

Chr2:47795892

Likely pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

1 SubmittersRCV003450220

NM_000179.3(MSH6):c.457+2T>G

SNV
Unknown

Chr2:47791125

Likely pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

1 SubmittersRCV003450226

NM_000179.3(MSH6):c.2773G>T (p.Gly925Ter)

SNV
Unknown

Chr2:47800756

Pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

1 SubmittersRCV003450231

NM_000179.3(MSH6):c.472G>T (p.Glu158Ter)

SNV
Unknown

Chr2:47795908

Pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

1 SubmittersRCV003450239

NM_000179.3(MSH6):c.2326C>T (p.Gln776Ter)

SNV
Unknown

Chr2:47800309

Pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

1 SubmittersRCV003450252

NM_000179.3(MSH6):c.3894T>A (p.Tyr1298Ter)

SNV
Unknown

Chr2:47806544

Pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

1 SubmittersRCV003450254

NM_000179.3(MSH6):c.3760G>T (p.Glu1254Ter)

SNV
Unknown

Chr2:47806317

Pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

1 SubmittersRCV003450261

NM_000179.3(MSH6):c.2811T>A (p.Tyr937Ter)

SNV
Unknown

Chr2:47800794

Pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

1 SubmittersRCV003450271

NM_000179.3(MSH6):c.194C>G (p.Ser65Ter)

SNV
Unknown

Chr2:47783427

Pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

1 SubmittersRCV003450274

NM_000179.3(MSH6):c.3433A>T (p.Arg1145Ter)

SNV
Unknown

Chr2:47803680

Pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

1 SubmittersRCV003450276

NM_000179.3(MSH6):c.841G>T (p.Gly281Ter)

SNV
Unknown

Chr2:47798824

Pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

1 SubmittersRCV003450286

NM_000179.3(MSH6):c.443T>G (p.Leu148Ter)

SNV
Unknown

Chr2:47791109

Pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

1 SubmittersRCV003450287

NM_000179.3(MSH6):c.2440A>T (p.Lys814Ter)

SNV
Unknown

Chr2:47800423

Pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

1 SubmittersRCV003450297

NM_000179.3(MSH6):c.1677C>A (p.Cys559Ter)

SNV
Unknown

Chr2:47799660

Pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

1 SubmittersRCV003450298

NM_000179.3(MSH6):c.676G>T (p.Glu226Ter)

SNV
Unknown

Chr2:47798659

Pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

1 SubmittersRCV003450301

NM_000179.3(MSH6):c.373A>T (p.Lys125Ter)

SNV
Unknown

Chr2:47791039

Pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

1 SubmittersRCV003450304

NM_000179.3(MSH6):c.1609A>T (p.Lys537Ter)

SNV
Unknown

Chr2:47799592

Pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

1 SubmittersRCV003450308

NM_000179.3(MSH6):c.2767A>T (p.Lys923Ter)

SNV
Germline

Chr2:47800750

Pathogenic

Lynch syndrome 5
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003450324 RCV004364748

NM_000179.3(MSH6):c.1510A>T (p.Lys504Ter)

SNV
Unknown

Chr2:47799493

Pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

1 SubmittersRCV003450341

NM_000179.3(MSH6):c.3731T>A (p.Leu1244Ter)

SNV
Unknown

Chr2:47806288

Pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

1 SubmittersRCV003450344

NM_000179.3(MSH6):c.685G>T (p.Glu229Ter)

SNV
Unknown

Chr2:47798668

Pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

1 SubmittersRCV003450362

NM_000179.3(MSH6):c.2608A>T (p.Lys870Ter)

SNV
Unknown

Chr2:47800591

Pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

1 SubmittersRCV003450388

NM_000179.3(MSH6):c.1597G>T (p.Glu533Ter)

SNV
Unknown

Chr2:47799580

Pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

1 SubmittersRCV003450425

NM_000179.3(MSH6):c.2036T>A (p.Leu679Ter)

SNV
Unknown

Chr2:47800019

Pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

1 SubmittersRCV003450427

NM_000179.3(MSH6):c.2074A>T (p.Lys692Ter)

SNV
Unknown

Chr2:47800057

Pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

1 SubmittersRCV003450432

NM_000179.3(MSH6):c.3554C>A (p.Ser1185Ter)

SNV
Unknown

Chr2:47805025

Pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

1 SubmittersRCV003450433

NM_000535.7(PMS2):c.1694T>A (p.Leu565Ter)

SNV
Unknown

Chr7:5987071

Pathogenic

Lynch syndrome 4

Criteria Provided
Single Submitter

1 SubmittersRCV003450507

NM_000179.3(MSH6):c.4001G>T (p.Arg1334Leu)

SNV
Unknown

Chr2:47806651

Likely pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

1 SubmittersRCV003450515

NM_000535.7(PMS2):c.903G>C (p.Lys301Asn)

SNV
Unknown

Chr7:5995534

Likely pathogenic

Lynch syndrome 4

Criteria Provided
Single Submitter

1 SubmittersRCV003450525

NM_000179.3(MSH6):c.1141G>T (p.Glu381Ter)

SNV
Unknown

Chr2:47799124

Pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

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

2 SubmittersRCV003452227 RCV003759863

NM_000535.7(PMS2):c.221G>A (p.Gly74Glu)

SNV
Unknown

Chr7:6004001

Conflicting classifications of pathogenicity

Lynch syndrome 4

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003452384

NM_000535.7(PMS2):c.2039G>A (p.Gly680Asp)

SNV
Unknown

Chr7:5982959

Likely pathogenic

Lynch syndrome 4

Criteria Provided
Single Submitter

1 SubmittersRCV003452385

NM_000535.7(PMS2):c.2528G>C (p.Cys843Ser)

SNV
Unknown

Chr7:5973460

Likely pathogenic

Lynch syndrome 4

Criteria Provided
Single Submitter

1 SubmittersRCV003452388

NM_000535.7(PMS2):c.164-1G>T

SNV
Unknown

Chr7:6004059

Likely pathogenic

Lynch syndrome 4

Criteria Provided
Single Submitter

1 SubmittersRCV003452389

NM_000535.7(PMS2):c.2501T>C (p.Met834Thr)

SNV
Unknown

Chr7:5973487

Likely pathogenic

Lynch syndrome 4

Criteria Provided
Single Submitter

1 SubmittersRCV003452390

NM_000535.7(PMS2):c.251-1G>C

SNV
Germline

Chr7:6003793

Pathogenic/Likely pathogenic

Lynch syndrome 4
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003452392 RCV003759864

NM_000535.7(PMS2):c.804-11A>G

SNV
Germline

Chr7:5995644

Conflicting classifications of pathogenicity

Lynch syndrome 4
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003452393 RCV003585403

NM_000535.7(PMS2):c.622C>T (p.Gln208Ter)

SNV
Germline

Chr7:5999191

Pathogenic

Lynch syndrome 4
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003452400 RCV003594681

NM_000535.7(PMS2):c.1217T>G (p.Leu406Ter)

SNV
Germline

Chr7:5987548

Pathogenic

Lynch syndrome 4
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003452406 RCV003585404

NM_000535.7(PMS2):c.2335G>T (p.Gly779Ter)

SNV
Unknown

Chr7:5977698

Pathogenic

Lynch syndrome 4

Criteria Provided
Single Submitter

1 SubmittersRCV003452409

NM_000535.7(PMS2):c.909C>A (p.Cys303Ter)

SNV
Unknown

Chr7:5992052

Pathogenic

Lynch syndrome 4

Criteria Provided
Single Submitter

1 SubmittersRCV003452416

NM_000535.7(PMS2):c.584C>A (p.Ser195Ter)

SNV
Germline

Chr7:5999229

Pathogenic

Lynch syndrome 4
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003452419 RCV003778513

NM_000535.7(PMS2):c.1545C>A (p.Cys515Ter)

SNV
Unknown

Chr7:5987220

Pathogenic

Lynch syndrome 4

Criteria Provided
Single Submitter

1 SubmittersRCV003452430

NM_000535.7(PMS2):c.1417G>T (p.Glu473Ter)

SNV
Unknown

Chr7:5987348

Pathogenic

Lynch syndrome 4

Criteria Provided
Single Submitter

1 SubmittersRCV003452432

NM_000535.7(PMS2):c.447C>G (p.Tyr149Ter)

SNV
Unknown

Chr7:6002543

Pathogenic

Lynch syndrome 4

Criteria Provided
Single Submitter

1 SubmittersRCV003452433

NM_000535.7(PMS2):c.757G>T (p.Glu253Ter)

SNV
Unknown

Chr7:5997372

Pathogenic

Lynch syndrome 4

Criteria Provided
Single Submitter

1 SubmittersRCV003452441

NM_000535.7(PMS2):c.20C>A (p.Ser7Ter)

SNV
Unknown

Chr7:6009000

Pathogenic

Lynch syndrome 4

Criteria Provided
Single Submitter

1 SubmittersRCV003452444

NM_000535.7(PMS2):c.298C>T (p.Gln100Ter)

SNV
Unknown

Chr7:6003745

Pathogenic

Lynch syndrome 4

Criteria Provided
Single Submitter

1 SubmittersRCV003452453

NM_000251.3(MSH2):c.989T>G (p.Leu330Arg)

SNV
Unknown

Chr2:47416342

Likely pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV003454364

NM_000251.3(MSH2):c.2087C>G (p.Pro696Arg)

SNV
Unknown

Chr2:47476448

Likely pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV003454366

NM_000251.3(MSH2):c.2194A>C (p.Thr732Pro)

SNV
Unknown

Chr2:47476555

Likely pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV003454367

NM_000251.3(MSH2):c.2246A>G (p.Glu749Gly)

SNV
Unknown

Chr2:47478307

Likely pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV003454368

NM_000251.3(MSH2):c.2005+2T>A

SNV
Unknown

Chr2:47475272

Likely pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV003454371

NM_000251.3(MSH2):c.809T>G (p.Leu270Arg)

SNV
Unknown

Chr2:47414285

Likely pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV003454372

NM_024426.6(WT1):c.1384C>T (p.Gln462Ter)

SNV
Germline

Chr11:32392035

Likely pathogenic

Drash syndrome
Frasier syndrome
Meacham syndrome
Nephrotic syndrome, type 4
Nephrotic syndrome, type 4

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003985900 RCV004577623

NM_181523.3(PIK3R1):c.1718T>C (p.Leu573Pro)

SNV
Somatic

Chr5:68295297

Pathogenic

Overgrowth syndrome

No Assertion Criteria Provided

1 SubmittersRCV003493323

NM_003172.4(SURF1):c.3G>A (p.Met1Ile)

SNV
Germline

Chr9:133356451

Pathogenic

Leigh syndrome

Criteria Provided
Single Submitter

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

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

1 SubmittersRCV003584060

NM_003172.4(SURF1):c.808G>T (p.Glu270Ter)

SNV
Germline

Chr9:133352086

Pathogenic

Leigh syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003511461

NM_003172.4(SURF1):c.752-3C>G

SNV
Germline

Chr9:133352145

Likely pathogenic

Leigh syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003511462

NM_003172.4(SURF1):c.640C>T (p.Gln214Ter)

SNV
Germline

Chr9:133352557

Pathogenic

Leigh syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003511463

NM_022552.5(DNMT3A):c.457C>T (p.Gln153Ter)

SNV
Germline

Chr2:25275535

Pathogenic

Tatton-Brown-Rahman overgrowth syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003584278

NM_018344.6(SLC29A3):c.777C>A (p.Tyr259Ter)

SNV
Germline

Chr10:71361957

Pathogenic

H syndrome

Criteria Provided
Single Submitter

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

1 SubmittersRCV003746731

NM_000249.4(MLH1):c.2104-13A>T

SNV
Germline

Chr3:37050473

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003759966 RCV004011650

NM_003172.4(SURF1):c.361A>T (p.Lys121Ter)

SNV
Germline

Chr9:133353903

Pathogenic

Leigh syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003620051

NM_001375834.1(WIPF1):c.587C>G (p.Ser196Ter)

SNV
Germline

Chr2:174572218

Pathogenic

Wiskott-Aldrich syndrome 2

Criteria Provided
Single Submitter

1 SubmittersRCV003643830

NM_003172.4(SURF1):c.240+1G>A

SNV
Germline

Chr9:133354823

Pathogenic

Leigh syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003621292

NM_003172.4(SURF1):c.588+1G>C

SNV
Germline

Chr9:133352693

Pathogenic

Leigh syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003621468

NM_003172.4(SURF1):c.54+1G>A

SNV
Germline

Chr9:133356399

Likely pathogenic

Leigh syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003619208

NM_003172.4(SURF1):c.1A>T (p.Met1Leu)

SNV
Germline

Chr9:133356453

Pathogenic

Leigh syndrome

Criteria Provided
Single Submitter

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

1 SubmittersRCV003747530

NM_002577.4(PAK2):c.1273G>A (p.Asp425Asn)

SNV
Germline

Chr3:196820490

Likely pathogenic

Knobloch syndrome 2

Criteria Provided
Single Submitter

1 SubmittersRCV003764498

NM_000377.3(WAS):c.399G>T (p.Glu133Asp)

SNV
Germline

ChrX:48685772

Pathogenic

Thrombocytopenia 1
Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia

Criteria Provided
Single Submitter

1 SubmittersRCV003783760

NM_000377.3(WAS):c.1318C>T (p.Gln440Ter)

SNV
Germline

ChrX:48689046

Pathogenic

Thrombocytopenia 1
Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia

Criteria Provided
Single Submitter

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

1 SubmittersRCV003797908

NM_024426.6(WT1):c.1373G>A (p.Cys458Tyr)

SNV
Germline

Chr11:32392046

Pathogenic

Frasier syndrome
Drash syndrome
Wilms tumor 1
11p partial monosomy syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003783568

NM_024426.6(WT1):c.368C>A (p.Ser123Ter)

SNV
Germline

Chr11:32434993

Pathogenic

Frasier syndrome
Drash syndrome
Wilms tumor 1
11p partial monosomy syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003783571

NM_024426.6(WT1):c.363C>A (p.Tyr121Ter)

SNV
Germline

Chr11:32434998

Pathogenic

Frasier syndrome
Drash syndrome
Wilms tumor 1
11p partial monosomy syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003783572

NM_024426.6(WT1):c.640C>T (p.Gln214Ter)

SNV
Germline

Chr11:32434721

Pathogenic

Frasier syndrome
Drash syndrome
Wilms tumor 1
11p partial monosomy syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003790865

NM_024426.6(WT1):c.1448-13A>G

SNV
Germline

Chr11:32389192

Conflicting classifications of pathogenicity

Frasier syndrome
Drash syndrome
Wilms tumor 1
11p partial monosomy syndrome
Wilms tumor 1

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003800578 RCV004006058

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

1 SubmittersRCV003801681

NM_024426.6(WT1):c.965+2T>C

SNV
Germline

Chr11:32417575

Likely pathogenic

Frasier syndrome
Drash syndrome
Wilms tumor 1
11p partial monosomy syndrome

Criteria Provided
Single Submitter

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

1 SubmittersRCV003807543

NM_003172.4(SURF1):c.1A>G (p.Met1Val)

SNV
Germline

Chr9:133356453

Pathogenic

Leigh syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003877555

NM_001379500.1(COL18A1):c.3083C>A (p.Ser1028Ter)

SNV
Unknown

Chr21:45505427

Likely pathogenic

Knobloch syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV003883229

NM_000540.3(RYR1):c.14804G>A (p.Gly4935Asp)

SNV
Germline

Chr19:38585938

Pathogenic

King Denborough syndrome
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Single Submitter

1 SubmittersRCV003883301

NM_022552.5(DNMT3A):c.1627G>C (p.Gly543Arg)

SNV
Germline

Chr2:25244580

Pathogenic

Tatton-Brown-Rahman overgrowth syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003985952

NM_014159.7(SETD2):c.5123G>C (p.Arg1708Pro)

SNV
Germline

Chr3:47097974