Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000368.5(TSC1):c.749T>A (p.Leu250Ter)	SNV Germline	Chr9:132912446	Pathogenic	Tuberous sclerosis 1 Tuberous sclerosis syndrome	Criteria Provided Single Submitter	CA008189	rs_118203447	3 SubmittersRCV000005404 RCV000042356
NM_000368.5(TSC1):c.2194C>T (p.His732Tyr)	SNV Germline	Chr9:132903665	Conflicting classifications of pathogenicity	Focal cortical dysplasia of Taylor type 2B Tuberous sclerosis 1 Tuberous sclerosis syndrome Condition: not provided not specified Hereditary cancer-predisposing syndrome Isolated focal cortical dysplasia type II	Criteria Provided Conflicting Classifications	CA006123	rs_118203657	32 SubmittersRCV000005409 RCV000005410 RCV000054851 RCV000034607 RCV000118692 RCV000129684 RCV000278906
NM_000368.5(TSC1):c.671T>G (p.Met224Arg)	SNV Germline	Chr9:132921429	Likely pathogenic	Tuberous sclerosis 1 Tuberous sclerosis syndrome	Criteria Provided Multiple Submitters No Conflicts	CA008014	rs_118203426	4 SubmittersRCV000005411 RCV000042336
NM_000368.5(TSC1):c.539T>C (p.Leu180Pro)	SNV Germline	Chr9:132921943	Pathogenic	Tuberous sclerosis 1 Tuberous sclerosis syndrome	No Assertion Criteria Provided	CA007706	rs_118203396	2 SubmittersRCV000005412 RCV000042306
NM_000548.5(TSC2):c.5024C>T (p.Pro1675Leu)	SNV Germline	Chr16:2087897	Pathogenic	Tuberous sclerosis 2 Lymphangiomyomatosis Tuberous sclerosis syndrome Condition: not provided Tuberous sclerosis 2 Isolated focal cortical dysplasia type II Lymphangiomyomatosis Hereditary cancer-predisposing syndrome TSC2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA021526	rs_45483392	19 SubmittersRCV000013201 RCV000055436 RCV000043065 RCV000493720 RCV002496339 RCV002345240 RCV004734515
NM_000548.5(TSC2):c.34A>T (p.Lys12Ter)	SNV Germline	Chr16:2048649	Pathogenic	Tuberous sclerosis 2 Tuberous sclerosis syndrome	No Assertion Criteria Provided	CA019229	rs_45512692	2 SubmittersRCV000013202 RCV000042837
NM_000548.5(TSC2):c.1513C>T (p.Arg505Ter)	SNV Germline	Chr16:2064341	Pathogenic	Tuberous sclerosis 2 Lymphangiomyomatosis Tuberous sclerosis syndrome Condition: not provided Isolated focal cortical dysplasia type II Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA015026	rs_45517179	13 SubmittersRCV000013204 RCV000055539 RCV000043399 RCV000517734 RCV000768350 RCV002390103
NM_000548.5(TSC2):c.1832G>A (p.Arg611Gln)	SNV Germline/somatic	Chr16:2070571	Pathogenic/Likely pathogenic	Tuberous sclerosis 2 Tuberous sclerosis syndrome Lymphangiomyomatosis Condition: not provided Hereditary cancer-predisposing syndrome Tuberous sclerosis 2 Isolated focal cortical dysplasia type II Lymphangiomyomatosis	Criteria Provided Multiple Submitters No Conflicts	CA015920	rs_28934872	20 SubmittersRCV000013205 RCV000042946 RCV000055317 RCV000414340 RCV000491426 RCV000768118
NM_000548.5(TSC2):c.2150T>G (p.Leu717Arg)	SNV Germline	Chr16:2072293	Pathogenic	Tuberous sclerosis 2 Tuberous sclerosis syndrome	No Assertion Criteria Provided	CA016832	rs_45517214	2 SubmittersRCV000013207 RCV000042452
NM_000548.5(TSC2):c.1432C>T (p.Gln478Ter)	SNV Germline	Chr16:2063042	Pathogenic	Tuberous sclerosis 2 Tuberous sclerosis syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA014795	rs_121964862	4 SubmittersRCV000013208 RCV000042413 RCV001839481
NM_000548.5(TSC2):c.1096G>T (p.Glu366Ter)	SNV Germline/somatic	Chr16:2060790	Pathogenic	Tuberous sclerosis syndrome Lymphangiomyomatosis Condition: not provided Tuberous sclerosis 2	Criteria Provided Multiple Submitters No Conflicts	CA013758	rs_45517148	7 SubmittersRCV000042986 RCV000055263 RCV000497801 RCV001194675
NM_000548.5(TSC2):c.4508A>C (p.Gln1503Pro)	SNV Germline	Chr16:2084965	Pathogenic/Likely pathogenic	Tuberous sclerosis 2 Tuberous sclerosis syndrome Condition: not provided Hereditary cancer-predisposing syndrome Isolated focal cortical dysplasia type II	Criteria Provided Multiple Submitters No Conflicts	CA020573	rs_45516293	11 SubmittersRCV000013210 RCV000043266 RCV000492813 RCV002316192 RCV003460465
NM_000548.5(TSC2):c.2714G>A (p.Arg905Gln)	SNV Germline	Chr16:2076142	Pathogenic/Likely pathogenic	Tuberous sclerosis 2 Tuberous sclerosis syndrome Hereditary cancer-predisposing syndrome Condition: not provided Tuberous sclerosis 2 Isolated focal cortical dysplasia type II Lymphangiomyomatosis TSC2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA017951	rs_45517259	16 SubmittersRCV000013212 RCV000042875 RCV000221069 RCV000255572 RCV002482858 RCV004532330
NM_000548.5(TSC2):c.2713C>T (p.Arg905Trp)	SNV Germline	Chr16:2076141	Pathogenic	Tuberous sclerosis 2 Tuberous sclerosis syndrome Condition: not provided Isolated focal cortical dysplasia type II Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA017942	rs_45517258	18 SubmittersRCV000013213 RCV000042962 RCV000482063 RCV001536008 RCV002426499
NM_000548.5(TSC2):c.2713C>G (p.Arg905Gly)	SNV Germline	Chr16:2076141	Pathogenic	Tuberous sclerosis 2 Tuberous sclerosis syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA017936	rs_45517258	4 SubmittersRCV000013214 RCV000042482 RCV003441714
NM_000548.5(TSC2):c.1322G>A (p.Trp441Ter)	SNV Germline	Chr16:2062561	Pathogenic	Tuberous sclerosis 2 Tuberous sclerosis syndrome	Criteria Provided Single Submitter	CA014401	rs_45515894	3 SubmittersRCV000013216 RCV000043450
NM_000368.5(TSC1):c.121C>A (p.Leu41Ile)	SNV Germline	Chr9:132927290	Conflicting classifications of pathogenicity	Condition: not provided Tuberous sclerosis syndrome Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 Lymphangiomyomatosis Tuberous sclerosis 1 Isolated focal cortical dysplasia type II	Criteria Provided Conflicting Classifications	CA004496	rs_118203334	8 SubmittersRCV000034600 RCV000054854 RCV001010401 RCV001086659 RCV005049400
NM_000368.5(TSC1):c.1460C>G (p.Ser487Cys)	SNV Germline	Chr9:132906118	Conflicting classifications of pathogenicity	Condition: not provided Tuberous sclerosis syndrome not specified Isolated focal cortical dysplasia type II Hereditary cancer-predisposing syndrome Primitive neuroectodermal tumor Tuberous sclerosis 1	Criteria Provided Conflicting Classifications	CA004868	rs_118203532	17 SubmittersRCV000034602 RCV000054845 RCV000189811 RCV000319085 RCV000568490 RCV000761004 RCV001085737
NM_000368.5(TSC1):c.1960C>G (p.Gln654Glu)	SNV Germline	Chr9:132905618	Conflicting classifications of pathogenicity	Condition: not provided Tuberous sclerosis syndrome not specified Tuberous sclerosis 1 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA005650	rs_75820036	19 SubmittersRCV000034604 RCV000054846 RCV000186670 RCV000234486 RCV000570330
NM_000368.5(TSC1):c.2066G>A (p.Arg689His)	SNV Germline	Chr9:132903793	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 Tuberous sclerosis syndrome	Criteria Provided Conflicting Classifications	CA005883	rs_200827913	6 SubmittersRCV000034605 RCV000163566 RCV001083067 RCV003996171
NM_000368.5(TSC1):c.2075G>A (p.Arg692Gln)	SNV Germline	Chr9:132903784	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Isolated focal cortical dysplasia type II Lymphangiomyomatosis Tuberous sclerosis 1 Isolated focal cortical dysplasia type II Tuberous sclerosis 1 TSC1-related disorder Tuberous sclerosis syndrome	Criteria Provided Conflicting Classifications	CA005908	rs_199755731	13 SubmittersRCV000034606 RCV000163280 RCV000317696 RCV000515239 RCV001083195 RCV003934882 RCV005401291
NM_000368.5(TSC1):c.3103G>A (p.Gly1035Ser)	SNV Germline	Chr9:132896627	Conflicting classifications of pathogenicity	Condition: not provided Tuberous sclerosis syndrome Hereditary cancer-predisposing syndrome not specified Isolated focal cortical dysplasia type II Tuberous sclerosis 1	Criteria Provided Conflicting Classifications	CA007165	rs_118203742	23 SubmittersRCV000034609 RCV000054850 RCV000130763 RCV000122196 RCV000297382 RCV001080484
NM_000368.5(TSC1):c.3428C>T (p.Pro1143Leu)	SNV Germline	Chr9:132896302	Conflicting classifications of pathogenicity	Condition: not provided Isolated focal cortical dysplasia type II Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 Tuberous sclerosis syndrome	Criteria Provided Conflicting Classifications	CA007363	rs_201867031	9 SubmittersRCV000034611 RCV000274136 RCV000572666 RCV001081625 RCV005401292
NM_000368.5(TSC1):c.851G>A (p.Arg284His)	SNV Germline	Chr9:132912344	Conflicting classifications of pathogenicity	Condition: not provided Tuberous sclerosis 1 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome	Criteria Provided Conflicting Classifications	CA008318	rs_151309813	9 SubmittersRCV000034612 RCV001080486 RCV001017939 RCV006547511
NM_000548.5(TSC2):c.1070C>T (p.Ala357Val)	SNV Germline	Chr16:2060764	Conflicting classifications of pathogenicity	Condition: not provided Tuberous sclerosis syndrome not specified Hereditary cancer-predisposing syndrome Tuberous sclerosis 2 Isolated focal cortical dysplasia type II Uterine corpus endometrial carcinoma Ovarian serous cystadenocarcinoma Cervical cancer Colorectal cancer Melanoma	Criteria Provided Conflicting Classifications	CA013675	rs_150195368	19 SubmittersRCV000034641 RCV000055595 RCV000122202 RCV000163628 RCV000230505 RCV000714826 RCV005888942 RCV005888940 RCV005888938 RCV005888939 RCV005888941
NM_000548.5(TSC2):c.1318G>A (p.Gly440Ser)	SNV Germline	Chr16:2062557	Conflicting classifications of pathogenicity	Condition: not provided Tuberous sclerosis syndrome not specified Hereditary cancer-predisposing syndrome Hirschsprung disease, susceptibility to, 1 Tuberous sclerosis 2 TSC2-related disorder Tuberous sclerosis 2 Isolated focal cortical dysplasia type II Lymphangiomyomatosis	Criteria Provided Conflicting Classifications	CA014394	rs_45484298	28 SubmittersRCV000034643 RCV000054863 RCV000122204 RCV000163424 RCV000201296 RCV000227708 RCV004528161 RCV005394204
NM_000548.5(TSC2):c.1340C>T (p.Ala447Val)	SNV Germline	Chr16:2062579	Conflicting classifications of pathogenicity	Condition: not provided Tuberous sclerosis syndrome Hereditary cancer-predisposing syndrome Tuberous sclerosis 2 not specified	Criteria Provided Conflicting Classifications	CA014447	rs_45486591	14 SubmittersRCV000034644 RCV000054865 RCV000569820 RCV001083058 RCV005434617
NM_000548.5(TSC2):c.1458C>G (p.Asn486Lys)	SNV Germline	Chr16:2064286	Conflicting classifications of pathogenicity	Condition: not provided not specified Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA014912	rs_200532154	6 SubmittersRCV000034645 RCV000190067 RCV000644164 RCV002390139
NM_000548.5(TSC2):c.1939G>A (p.Asp647Asn)	SNV Germline	Chr16:2071609	Conflicting classifications of pathogenicity	Condition: not provided Tuberous sclerosis syndrome Hereditary cancer-predisposing syndrome Tuberous sclerosis 2 TSC2-related disorder not specified	Criteria Provided Conflicting Classifications	CA016233	rs_45509392	18 SubmittersRCV000034648 RCV000054861 RCV000562486 RCV000989423 RCV004534722 RCV004998130
NM_000548.5(TSC2):c.2476C>A (p.Leu826Met)	SNV Germline	Chr16:2074320	Conflicting classifications of pathogenicity	Condition: not provided Tuberous sclerosis syndrome Hereditary cancer-predisposing syndrome not specified Tuberous sclerosis 2	Criteria Provided Conflicting Classifications	CA017492	rs_45517238	23 SubmittersRCV000034649 RCV000054857 RCV000163390 RCV000176271 RCV000989426
NM_000548.5(TSC2):c.3430G>A (p.Val1144Met)	SNV Germline	Chr16:2080197	Conflicting classifications of pathogenicity	Condition: not provided Tuberous sclerosis syndrome not specified Hereditary cancer-predisposing syndrome Tuberous sclerosis 2 TSC2-related disorder Tuberous sclerosis 2 Isolated focal cortical dysplasia type II Lymphangiomyomatosis	Criteria Provided Conflicting Classifications	CA019154	rs_45517294	20 SubmittersRCV000034650 RCV000055184 RCV000122226 RCV000163263 RCV000989431 RCV004541070 RCV005394206
NM_000548.5(TSC2):c.3889G>A (p.Ala1297Thr)	SNV Germline	Chr16:2083700	Conflicting classifications of pathogenicity	Condition: not provided Tuberous sclerosis syndrome not specified Hereditary cancer-predisposing syndrome Tuberous sclerosis 2 Lymphangiomyomatosis Tuberous sclerosis 2 Isolated focal cortical dysplasia type II	Criteria Provided Conflicting Classifications	CA019668	rs_45517319	29 SubmittersRCV000034653 RCV000054864 RCV000122229 RCV000129666 RCV000231518 RCV005394207
NM_000548.5(TSC2):c.4046C>T (p.Ala1349Val)	SNV Germline	Chr16:2084268	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Tuberous sclerosis 2 Tuberous sclerosis syndrome	Criteria Provided Conflicting Classifications	CA019876	rs_201979616	10 SubmittersRCV000034656 RCV000215282 RCV001081977 RCV006547512
NM_000548.5(TSC2):c.4225C>T (p.Arg1409Trp)	SNV Germline	Chr16:2084447	Conflicting classifications of pathogenicity	Condition: not provided Tuberous sclerosis syndrome Hereditary cancer-predisposing syndrome not specified Tuberous sclerosis 2 Lymphangiomyomatosis Isolated focal cortical dysplasia type II Tuberous sclerosis 2 TSC2-related disorder	Criteria Provided Conflicting Classifications	CA020096	rs_45517333	16 SubmittersRCV000034657 RCV000054871 RCV000566784 RCV000606975 RCV000768352 RCV001082570 RCV004534723
NM_000548.5(TSC2):c.5359G>A (p.Gly1787Ser)	SNV Germline	Chr16:2088545	Conflicting classifications of pathogenicity	Condition: not provided Tuberous sclerosis syndrome not specified Hereditary cancer-predisposing syndrome Tuberous sclerosis 2 TSC2-related disorder	Criteria Provided Conflicting Classifications	CA022408	rs_45517419	25 SubmittersRCV000034663 RCV000054855 RCV000122242 RCV000130722 RCV000202756 RCV004534724
NM_000548.5(TSC2):c.5368G>A (p.Val1790Met)	SNV Germline	Chr16:2088554	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Tuberous sclerosis 2 TSC2-related disorder Tuberous sclerosis syndrome	Criteria Provided Conflicting Classifications	CA022424	rs_200140994	9 SubmittersRCV000034664 RCV000567483 RCV001088019 RCV004534725 RCV006547513
NM_000548.5(TSC2):c.5418T>G (p.Phe1806Leu)	SNV Germline	Chr16:2088604	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Tuberous sclerosis 2 Tuberous sclerosis syndrome	Criteria Provided Conflicting Classifications	CA022504	rs_200004126	8 SubmittersRCV000034666 RCV001024070 RCV001081523 RCV006547514
NM_000548.5(TSC2):c.922C>G (p.Arg308Gly)	SNV Germline	Chr16:2058820	Conflicting classifications of pathogenicity	Condition: not provided Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome	Criteria Provided Conflicting Classifications	CA023120	rs_201144475	7 SubmittersRCV000034667 RCV001084556 RCV002257374 RCV003996175
NM_000368.5(TSC1):c.1001C>A (p.Ser334Ter)	SNV Germline	Chr9:132911481	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 1	Criteria Provided Single Submitter	CA004269	rs_118203481	2 SubmittersRCV000041973 RCV003505083
NM_000368.5(TSC1):c.1029+1G>A	SNV Germline	Chr9:132911452	Pathogenic/Likely pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 1 Lymphangiomyomatosis Isolated focal cortical dysplasia type II Tuberous sclerosis 1 Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA004316	rs_118203485	5 SubmittersRCV000041976 RCV001204448 RCV002477137 RCV004018918
NM_000368.5(TSC1):c.1041G>A (p.Trp347Ter)	SNV Germline	Chr9:132911102	Pathogenic	Malignant tumor of urinary bladder Condition: not provided Tuberous sclerosis 1 Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA004355	rs_118203491	5 SubmittersRCV000041982 RCV001531750 RCV002514164 RCV003372612
NM_000368.5(TSC1):c.1047A>G (p.Pro349=)	SNV Germline	Chr9:132911096	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome Tuberous sclerosis 1 Hereditary cancer-predisposing syndrome Isolated focal cortical dysplasia type II Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA004363	rs_118203492	12 SubmittersRCV000041983 RCV000472218 RCV000564589 RCV001167269 RCV001697066 RCV006258940
NM_000368.5(TSC1):c.1250C>T (p.Thr417Ile)	SNV Germline	Chr9:132910584	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome Malignant tumor of urinary bladder not specified Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 Isolated focal cortical dysplasia type II TSC1-related disorder	Criteria Provided Conflicting Classifications	CA004523	rs_77464996	13 SubmittersRCV000041999 RCV000055012 RCV000422201 RCV001010542 RCV000988278 RCV001165673 RCV004745176
NM_000368.5(TSC1):c.1333+13C>T	SNV Germline	Chr9:132907288	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome not specified Lymphangiomyomatosis Isolated focal cortical dysplasia type II Tuberous sclerosis 1 Tuberous sclerosis 1 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA004654	rs_118203516	7 SubmittersRCV000042011 RCV000420716 RCV002490586 RCV002054841 RCV004017339
NM_000368.5(TSC1):c.1438+6G>A	SNV Germline	Chr9:132906725	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome Condition: not provided Isolated focal cortical dysplasia type II Tuberous sclerosis 1 not specified Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA004815	rs_118203530	14 SubmittersRCV000042029 RCV000227291 RCV000385329 RCV001083129 RCV001727548 RCV002256017
NM_000368.5(TSC1):c.1439-2A>G	SNV Germline	Chr9:132906141	Likely pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 1	Criteria Provided Single Submitter	CA004828	rs_118203531	2 SubmittersRCV000042030 RCV001208859
NM_000368.5(TSC1):c.1498C>T (p.Arg500Ter)	SNV Germline	Chr9:132906080	Pathogenic/Likely pathogenic	Tuberous sclerosis syndrome Condition: not provided Tuberous sclerosis 1 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 Isolated focal cortical dysplasia type II Lymphangiomyomatosis	Criteria Provided Multiple Submitters No Conflicts	CA004940	rs_118203537	14 SubmittersRCV000042038 RCV000254845 RCV000474016 RCV001199095 RCV002390180 RCV004795960
NM_000368.5(TSC1):c.1501G>T (p.Gly501Ter)	SNV Germline	Chr9:132906077	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 1	Criteria Provided Single Submitter	CA004963	rs_118203539	2 SubmittersRCV000042041 RCV006461279
NM_000368.5(TSC1):c.1525C>T (p.Arg509Ter)	SNV Germline	Chr9:132906053	Pathogenic	Malignant tumor of urinary bladder Tuberous sclerosis syndrome Condition: not provided Tuberous sclerosis 1 Lymphangiomyomatosis Isolated focal cortical dysplasia type II Tuberous sclerosis 1 Hereditary cancer-predisposing syndrome TSC1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA004986	rs_118203542	19 SubmittersRCV000055036 RCV000042043 RCV000189847 RCV000201132 RCV000515319 RCV002390181 RCV004745177
NM_000368.5(TSC1):c.153A>C (p.Glu51Asp)	SNV Germline	Chr9:132927258	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome Tuberous sclerosis 1 Hereditary cancer-predisposing syndrome Condition: not provided TSC1-related disorder not specified	Criteria Provided Conflicting Classifications	CA005036	rs_118203342	9 SubmittersRCV000042047 RCV000461171 RCV001011985 RCV004721251 RCV004745178 RCV005890293
NM_000368.5(TSC1):c.1579C>T (p.Gln527Ter)	SNV Germline	Chr9:132905999	Pathogenic/Likely pathogenic	Tuberous sclerosis syndrome Malignant tumor of urinary bladder Condition: not provided Tuberous sclerosis 1	Criteria Provided Multiple Submitters No Conflicts	CA005069	rs_118203549	6 SubmittersRCV000042051 RCV000054972 RCV000578889 RCV000660336
NM_000368.5(TSC1):c.163C>T (p.Gln55Ter)	SNV Germline	Chr9:132927248	Pathogenic	Tuberous sclerosis syndrome Malignant tumor of urinary bladder Tuberous sclerosis 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA005119	rs_118203343	4 SubmittersRCV000042055 RCV000054965 RCV001852863 RCV004797774
NM_000368.5(TSC1):c.1825G>T (p.Glu609Ter)	SNV Germline	Chr9:132905753	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 1	Criteria Provided Single Submitter	CA005447	rs_118203587	2 SubmittersRCV000042090 RCV003505086
NM_000368.5(TSC1):c.182T>C (p.Leu61Pro)	SNV Germline	Chr9:132927229	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA005453	rs_118203345	3 SubmittersRCV000042091 RCV001380989 RCV002286701
NM_000368.5(TSC1):c.1960C>T (p.Gln654Ter)	SNV Germline	Chr9:132905618	Pathogenic	Tuberous sclerosis syndrome Condition: not provided Tuberous sclerosis 1 Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA005658	rs_75820036	8 SubmittersRCV000042109 RCV000713908 RCV000698745 RCV002415486
NM_000368.5(TSC1):c.1963C>T (p.Gln655Ter)	SNV Germline	Chr9:132905615	Pathogenic	Tuberous sclerosis syndrome Condition: not provided Hereditary cancer-predisposing syndrome Tuberous sclerosis 1	Criteria Provided Multiple Submitters No Conflicts	CA005663	rs_118203606	5 SubmittersRCV000042110 RCV000189852 RCV002415487 RCV003505087
NM_000368.5(TSC1):c.1974C>G (p.Asp658Glu)	SNV Germline	Chr9:132905604	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome Condition: not provided Tuberous sclerosis 1 Hereditary cancer-predisposing syndrome Lymphangiomyomatosis Tuberous sclerosis 1 Isolated focal cortical dysplasia type II	Criteria Provided Conflicting Classifications	CA005685	rs_118203608	9 SubmittersRCV000042112 RCV000841758 RCV001056632 RCV002255265 RCV005042124
NM_000368.5(TSC1):c.1997+1G>A	SNV Germline	Chr9:132905580	Pathogenic/Likely pathogenic	Tuberous sclerosis syndrome Condition: not provided Tuberous sclerosis 1	Criteria Provided Multiple Submitters No Conflicts	CA005710	rs_118203610	4 SubmittersRCV000042114 RCV000189849 RCV002514165
NM_000368.5(TSC1):c.1997+1G>C	SNV Germline	Chr9:132905580	Likely pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 1	Criteria Provided Single Submitter	CA005716	rs_118203610	2 SubmittersRCV000042115 RCV005862746
NM_000368.5(TSC1):c.1998-1G>C	SNV Germline	Chr9:132904455	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 1	Criteria Provided Single Submitter	CA005737	rs_118203614	2 SubmittersRCV000042118 RCV001058298
NM_000368.5(TSC1):c.2006T>G (p.Leu669Ter)	SNV Germline	Chr9:132904446	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 1	Criteria Provided Single Submitter	CA005764	rs_118203617	2 SubmittersRCV000042121 RCV001203717
NM_000368.5(TSC1):c.2028G>A (p.Trp676Ter)	SNV Germline	Chr9:132904424	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 1	Criteria Provided Multiple Submitters No Conflicts	CA005793	rs_118203621	3 SubmittersRCV000042125 RCV003326117
NM_000368.5(TSC1):c.2039G>A (p.Gly680Glu)	SNV Germline	Chr9:132904413	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome Tuberous sclerosis 1 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA005810	rs_118203623	6 SubmittersRCV000042127 RCV000226639 RCV002256018
NM_000368.5(TSC1):c.2041+2T>C	SNV Germline	Chr9:132904409	Pathogenic	Tuberous sclerosis syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Single Submitter	CA005827	rs_118203625	2 SubmittersRCV000042130 RCV002415488
NM_000368.5(TSC1):c.2041G>A (p.Gly681Ser)	SNV Germline	Chr9:132904411	Pathogenic	Tuberous sclerosis syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Single Submitter	CA005830	rs_118203624	2 SubmittersRCV000042131 RCV002415489
NM_000368.5(TSC1):c.2042-2A>G	SNV Germline	Chr9:132903819	Likely pathogenic	Tuberous sclerosis syndrome Isolated focal cortical dysplasia type II Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA005836	rs_118203628	3 SubmittersRCV000042132 RCV003460554 RCV003886371
NM_000368.5(TSC1):c.2042-5A>G	SNV Germline	Chr9:132903822	Pathogenic/Likely pathogenic	Tuberous sclerosis syndrome Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA005839	rs_118203627	5 SubmittersRCV000042133 RCV000568333 RCV001222573 RCV005416325
NM_000368.5(TSC1):c.2054C>A (p.Ser685Ter)	SNV Germline	Chr9:132903805	Likely pathogenic	Tuberous sclerosis syndrome Condition: not provided	Criteria Provided Single Submitter	CA005869	rs_118203629	2 SubmittersRCV000042134 RCV004696653
NM_000368.5(TSC1):c.2074C>T (p.Arg692Ter)	SNV Germline	Chr9:132903785	Pathogenic	Tuberous sclerosis syndrome Malignant tumor of urinary bladder Tuberous sclerosis 1 Condition: not provided Tuberous sclerosis 1 Isolated focal cortical dysplasia type II Lymphangiomyomatosis Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA005901	rs_118203631	21 SubmittersRCV000042136 RCV000054891 RCV000201087 RCV000413998 RCV000763190 RCV002415490
NM_000368.5(TSC1):c.211-1G>A	SNV Germline	Chr9:132925740	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 1 Lymphangiomyomatosis Tuberous sclerosis 1	Criteria Provided Multiple Submitters No Conflicts	CA006045	rs_118203353	3 SubmittersRCV000042153 RCV000686570 RCV005890295
NM_000368.5(TSC1):c.211-2A>C	SNV Germline	Chr9:132925741	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 1	Criteria Provided Multiple Submitters No Conflicts	CA006053	rs_118203352	4 SubmittersRCV000042154 RCV000201170
NM_000368.5(TSC1):c.2112T>A (p.Tyr704Ter)	SNV Germline	Chr9:132903747	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 1 Condition: not provided	Criteria Provided Single Submitter	CA006056	rs_118203646	3 SubmittersRCV000042157 RCV001199387 RCV003311670
NM_000368.5(TSC1):c.2131C>T (p.Gln711Ter)	SNV Germline	Chr9:132903728	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 1	Criteria Provided Single Submitter	CA006063	rs_118203647	2 SubmittersRCV000042158 RCV000688704
NM_000368.5(TSC1):c.215T>C (p.Leu72Pro)	SNV Germline	Chr9:132925735	Likely pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 1	Criteria Provided Single Submitter	CA006084	rs_118203354	2 SubmittersRCV000042163 RCV005089382
NM_000368.5(TSC1):c.2227C>T (p.Gln743Ter)	SNV Germline/somatic	Chr9:132902769	Pathogenic	Tuberous sclerosis syndrome Condition: not provided Tuberous sclerosis 1 Malignant tumor of urinary bladder Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA006160	rs_118203661	10 SubmittersRCV000042172 RCV000414029 RCV001199388 RCV003332093 RCV006287149
NM_000368.5(TSC1):c.2249G>A (p.Trp750Ter)	SNV Germline	Chr9:132902747	Pathogenic	Tuberous sclerosis syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA006178	rs_118203662	3 SubmittersRCV000042173 RCV000993362
NM_000368.5(TSC1):c.2250G>A (p.Trp750Ter)	SNV Germline	Chr9:132902746	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 1	Criteria Provided Single Submitter	CA006184	rs_118203663	2 SubmittersRCV000042174 RCV002513613
NM_000368.5(TSC1):c.2283C>A (p.Tyr761Ter)	SNV Germline	Chr9:132902713	Pathogenic	Tuberous sclerosis syndrome Condition: not provided Tuberous sclerosis 1 Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA006227	rs_118203668	5 SubmittersRCV000042180 RCV000422886 RCV001199389 RCV005502745
NM_000368.5(TSC1):c.2285A>G (p.Asn762Ser)	SNV Germline	Chr9:132902711	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome Hereditary cancer-predisposing syndrome not specified Isolated focal cortical dysplasia type II Condition: not provided Tuberous sclerosis 1	Criteria Provided Conflicting Classifications	CA006241	rs_118203670	21 SubmittersRCV000042182 RCV000130869 RCV000189820 RCV000270998 RCV000713909 RCV001083830
NM_000368.5(TSC1):c.2287C>T (p.Gln763Ter)	SNV Germline	Chr9:132902709	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 1	Criteria Provided Single Submitter	CA006248	rs_118203671	2 SubmittersRCV000042183 RCV001223370
NM_000368.5(TSC1):c.2293C>T (p.Gln765Ter)	SNV Germline	Chr9:132902703	Pathogenic	Tuberous sclerosis syndrome Condition: not provided Tuberous sclerosis 1	Criteria Provided Multiple Submitters No Conflicts	CA006259	rs_118203673	4 SubmittersRCV000042185 RCV000523745 RCV001384743
NM_000368.5(TSC1):c.2299C>T (p.Gln767Ter)	SNV Germline	Chr9:132902697	Pathogenic	Tuberous sclerosis syndrome TSC1-related disorder Tuberous sclerosis 1	Criteria Provided Single Submitter	CA006274	rs_118203675	3 SubmittersRCV000042187 RCV003915004 RCV004795961
NM_000368.5(TSC1):c.2332C>T (p.Gln778Ter)	SNV Germline	Chr9:132902664	Pathogenic	Tuberous sclerosis syndrome	Criteria Provided Single Submitter	CA006315	rs_118203679	2 SubmittersRCV000042191
NM_000368.5(TSC1):c.2341C>T (p.Gln781Ter)	SNV Germline	Chr9:132902655	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 1 Hereditary cancer-predisposing syndrome Lymphangiomyomatosis Isolated focal cortical dysplasia type II Tuberous sclerosis 1	Criteria Provided Multiple Submitters No Conflicts	CA006322	rs_118203680	5 SubmittersRCV000042192 RCV000473593 RCV002426584 RCV002054843
NM_000368.5(TSC1):c.2347C>T (p.Gln783Ter)	SNV Germline	Chr9:132902649	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 1	Criteria Provided Multiple Submitters No Conflicts	CA006332	rs_118203681	4 SubmittersRCV000042193 RCV001199390
NM_000368.5(TSC1):c.2356C>T (p.Arg786Ter)	SNV Germline	Chr9:132902640	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 1 Hereditary cancer-predisposing syndrome Seizure Cardiac rhabdomyoma Hamartoma Condition: not provided Tuberous sclerosis 1 Isolated focal cortical dysplasia type II Lymphangiomyomatosis	Criteria Provided Multiple Submitters No Conflicts	CA006339	rs_118203682	17 SubmittersRCV000042194 RCV000201048 RCV000491852 RCV000415379 RCV000519452 RCV005042125
NM_000368.5(TSC1):c.2362G>T (p.Glu788Ter)	SNV Germline	Chr9:132902634	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 1	Criteria Provided Single Submitter	CA006362	rs_118203685	2 SubmittersRCV000042197 RCV000793708
NM_000368.5(TSC1):c.2401G>T (p.Glu801Ter)	SNV Germline	Chr9:132901690	Pathogenic	Tuberous sclerosis syndrome Condition: not provided Tuberous sclerosis 1	Criteria Provided Multiple Submitters No Conflicts	CA006392	rs_118203687	3 SubmittersRCV000042200 RCV000481095 RCV005089383
NM_000368.5(TSC1):c.2420T>C (p.Ile807Thr)	SNV Germline	Chr9:132901671	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome Tuberous sclerosis 1 Lymphangiomyomatosis Isolated focal cortical dysplasia type II Tuberous sclerosis 1 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA006415	rs_118203690	5 SubmittersRCV000042203 RCV000642006 RCV002483037 RCV003298084
NM_000368.5(TSC1):c.2497C>T (p.Gln833Ter)	SNV Germline/somatic	Chr9:132901594	Pathogenic/Likely pathogenic	Tuberous sclerosis syndrome Malignant tumor of urinary bladder Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA006516	rs_118203700	4 SubmittersRCV000042214 RCV003332094 RCV004998134
NM_000368.5(TSC1):c.2503-2A>G	SNV Germline	Chr9:132900839	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 1	Criteria Provided Single Submitter	CA006547	rs_118203704	2 SubmittersRCV000042218 RCV000988273
NM_000368.5(TSC1):c.2507C>G (p.Ser836Ter)	SNV Germline	Chr9:132900833	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 1 Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA006565	rs_118203706	4 SubmittersRCV000042220 RCV000796200 RCV001015787
NM_000368.5(TSC1):c.2626-2A>G	SNV Germline	Chr9:132897612	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA006734	rs_118203717	4 SubmittersRCV000042233 RCV000793960 RCV004700311
NM_000368.5(TSC1):c.2689C>T (p.Gln897Ter)	SNV Germline	Chr9:132897547	Pathogenic	Tuberous sclerosis syndrome Condition: not provided Hereditary cancer-predisposing syndrome Tuberous sclerosis 1	Criteria Provided Multiple Submitters No Conflicts	CA006867	rs_118203727	4 SubmittersRCV000042242 RCV000255974 RCV000490863 RCV001797598
NM_000368.5(TSC1):c.2692C>T (p.Gln898Ter)	SNV Germline	Chr9:132897544	Pathogenic	Tuberous sclerosis syndrome Hereditary cancer-predisposing syndrome Tuberous sclerosis 1	Criteria Provided Multiple Submitters No Conflicts	CA006876	rs_118203728	4 SubmittersRCV000042243 RCV000491065 RCV000538905
NM_000368.5(TSC1):c.2716C>T (p.Gln906Ter)	SNV Germline	Chr9:132897520	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA006937	rs_118203732	5 SubmittersRCV000042246 RCV000660339 RCV000627233
NM_000368.5(TSC1):c.272C>A (p.Ser91Ter)	SNV Germline	Chr9:132925678	Pathogenic	Tuberous sclerosis syndrome	Criteria Provided Single Submitter	CA006946	rs_118203361	2 SubmittersRCV000042248
NM_000368.5(TSC1):c.2781G>A (p.Lys927=)	SNV Germline	Chr9:132897455	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome Tuberous sclerosis 1 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA006995	rs_118203733	6 SubmittersRCV000042250 RCV000473022 RCV002256020
NM_000368.5(TSC1):c.2806C>T (p.Gln936Ter)	SNV Germline	Chr9:132897430	Pathogenic/Likely pathogenic	Tuberous sclerosis syndrome Condition: not provided Tuberous sclerosis 1	Criteria Provided Multiple Submitters No Conflicts	CA007024	rs_118203735	6 SubmittersRCV000042253 RCV000760329 RCV001253033
NM_000368.5(TSC1):c.308G>A (p.Trp103Ter)	SNV Germline	Chr9:132925642	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 1	Criteria Provided Single Submitter	CA007151	rs_118203364	2 SubmittersRCV000042263 RCV001852866
NM_000368.5(TSC1):c.309G>A (p.Trp103Ter)	SNV Germline	Chr9:132925641	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 1 Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA007158	rs_118203365	3 SubmittersRCV000042264 RCV001380988 RCV005502746
NM_000368.5(TSC1):c.3184C>T (p.Arg1062Trp)	SNV Germline	Chr9:132896546	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome not specified Tuberous sclerosis 1 Hereditary cancer-predisposing syndrome Condition: not provided Isolated focal cortical dysplasia type II TSC1-related disorder	Criteria Provided Conflicting Classifications	CA007223	rs_118203745	14 SubmittersRCV000042266 RCV000189827 RCV000227692 RCV000563572 RCV001093203 RCV001167647 RCV003915005
NM_000368.5(TSC1):c.3322G>A (p.Gly1108Ser)	SNV Germline	Chr9:132896408	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome not specified Tuberous sclerosis 1 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA007317	rs_118203753	8 SubmittersRCV000042274 RCV000189829 RCV000642032 RCV001019989 RCV004546423
NM_000368.5(TSC1):c.350T>C (p.Leu117Pro)	SNV Germline	Chr9:132925600	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome Tuberous sclerosis 1	Criteria Provided Conflicting Classifications	CA007394	rs_118203368	3 SubmittersRCV000042278 RCV001068129
NM_000368.5(TSC1):c.363+1G>A	SNV Germline	Chr9:132925586	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 1	Criteria Provided Single Submitter	CA007428	rs_118203372	2 SubmittersRCV000042280 RCV000812045
NM_000368.5(TSC1):c.363+1G>T	SNV Germline	Chr9:132925586	Pathogenic/Likely pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 1	Criteria Provided Multiple Submitters No Conflicts	CA007434	rs_118203372	3 SubmittersRCV000042281 RCV001378743
NM_000368.5(TSC1):c.364-1G>C	SNV Germline	Chr9:132923493	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 1	Criteria Provided Single Submitter	CA007466	rs_118203376	2 SubmittersRCV000042286 RCV001210529
NM_000368.5(TSC1):c.397G>T (p.Val133Phe)	SNV Germline	Chr9:132923459	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome Tuberous sclerosis 1 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA007570	rs_118203381	3 SubmittersRCV000042291 RCV001214207 RCV006287151
NM_000368.5(TSC1):c.433C>T (p.Gln145Ter)	SNV Germline	Chr9:132923423	Pathogenic	Tuberous sclerosis syndrome TSC1-related disorder Tuberous sclerosis 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA007587	rs_118203382	5 SubmittersRCV000042292 RCV003894875 RCV003505089 RCV006555383
NM_000368.5(TSC1):c.445C>T (p.Gln149Ter)	SNV Germline	Chr9:132923411	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 1	Criteria Provided Multiple Submitters No Conflicts	CA007594	rs_118203384	3 SubmittersRCV000042294 RCV000552517
NM_000368.5(TSC1):c.491G>A (p.Trp164Ter)	SNV Germline	Chr9:132923365	Pathogenic	Tuberous sclerosis syndrome Lymphangiomyomatosis Condition: not provided	Criteria Provided Single Submitter	CA007633	rs_118203387	2 SubmittersRCV000042297 RCV000189835
NM_000368.5(TSC1):c.508+1G>C	SNV Germline	Chr9:132923347	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA007656	rs_118203390	3 SubmittersRCV000042300 RCV001064764 RCV006255324
NM_000368.5(TSC1):c.509-15G>A	SNV Germline	Chr9:132921988	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome not specified Tuberous sclerosis 1	Criteria Provided Conflicting Classifications	CA007664	rs_118203391	3 SubmittersRCV000042301 RCV000616375 RCV001852867
NM_000368.5(TSC1):c.532G>A (p.Val178Ile)	SNV Germline	Chr9:132921950	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome not specified Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 Condition: not provided Isolated focal cortical dysplasia type II TSC1-related disorder Lymphangiomyomatosis Tuberous sclerosis 1 Isolated focal cortical dysplasia type II	Criteria Provided Conflicting Classifications	CA007701	rs_118203395	20 SubmittersRCV000042305 RCV000122198 RCV000164135 RCV000228124 RCV000724965 RCV001165738 RCV003964895 RCV005394249
NM_000368.5(TSC1):c.568C>T (p.Arg190Cys)	SNV Germline	Chr9:132921914	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 Condition: not provided not specified TSC1-related disorder	Criteria Provided Conflicting Classifications	CA007757	rs_118203400	15 SubmittersRCV000042310 RCV000130555 RCV000225932 RCV001703930 RCV001727549 RCV003915006
NM_000368.5(TSC1):c.569G>C (p.Arg190Pro)	SNV Germline	Chr9:132921913	Likely pathogenic	Tuberous sclerosis syndrome Condition: not provided	Criteria Provided Single Submitter	CA007774	rs_118203402	2 SubmittersRCV000042311 RCV000442086
NM_000368.5(TSC1):c.572T>A (p.Leu191His)	SNV Germline	Chr9:132921910	Pathogenic/Likely pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 1 Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA007782	rs_118203403	3 SubmittersRCV000042313 RCV001852868 RCV005502747
NM_000368.5(TSC1):c.572T>G (p.Leu191Arg)	SNV Germline	Chr9:132921910	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 1	Criteria Provided Single Submitter	CA007790	rs_118203403	2 SubmittersRCV000042314 RCV002266912
NM_000368.5(TSC1):c.585C>A (p.Tyr195Ter)	SNV Germline	Chr9:132921897	Pathogenic	Tuberous sclerosis syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Single Submitter	CA007821	rs_118203407	2 SubmittersRCV000042317 RCV004018919
NM_000368.5(TSC1):c.598G>A (p.Val200Ile)	SNV Germline	Chr9:132921884	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome not specified Tuberous sclerosis 1 Isolated focal cortical dysplasia type II Hereditary cancer-predisposing syndrome TSC1-related disorder	Criteria Provided Conflicting Classifications	CA007868	rs_118203410	8 SubmittersRCV000042320 RCV000441826 RCV000687950 RCV001169731 RCV002258784 RCV003407416
NM_000368.5(TSC1):c.647T>C (p.Phe216Ser)	SNV Germline	Chr9:132921835	Pathogenic/Likely pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 1	Criteria Provided Multiple Submitters No Conflicts	CA007933	rs_118203416	3 SubmittersRCV000042326 RCV000641989
NM_000368.5(TSC1):c.663+1G>A	SNV Germline	Chr9:132921818	Pathogenic/Likely pathogenic	Malignant tumor of urinary bladder Condition: not provided Tuberous sclerosis 1	Criteria Provided Multiple Submitters No Conflicts	CA007957	rs_118203419	4 SubmittersRCV000042329 RCV000484162 RCV000686448
NM_000368.5(TSC1):c.664-15A>G	SNV Germline	Chr9:132921451	Pathogenic/Likely pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 1 Condition: not provided Hereditary cancer-predisposing syndrome Clear cell carcinoma of kidney	Criteria Provided Multiple Submitters No Conflicts	CA007987	rs_118203422	7 SubmittersRCV000042332 RCV001257304 RCV001659983 RCV002362663 RCV005890296
NM_000368.5(TSC1):c.664-1G>A	SNV Germline	Chr9:132921437	Pathogenic/Likely pathogenic	Malignant tumor of urinary bladder Condition: not provided Tuberous sclerosis 1 Tuberous sclerosis syndrome	Criteria Provided Multiple Submitters No Conflicts	CA007993	rs_118203423	5 SubmittersRCV000042333 RCV000296063 RCV000819722 RCV006268096
NM_000368.5(TSC1):c.664-1G>C	SNV Germline	Chr9:132921437	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 1	Criteria Provided Single Submitter	CA007999	rs_118203423	2 SubmittersRCV000042334 RCV000201068
NM_000368.5(TSC1):c.682C>T (p.Arg228Ter)	SNV Germline	Chr9:132921418	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 1 Condition: not provided Tuberous sclerosis 1 Isolated focal cortical dysplasia type II Lymphangiomyomatosis Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA008021	rs_118203427	11 SubmittersRCV000042337 RCV000201126 RCV000189836 RCV000515416 RCV004018920
NM_000368.5(TSC1):c.694G>T (p.Glu232Ter)	SNV Germline	Chr9:132921406	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA008043	rs_118203429	3 SubmittersRCV000042338 RCV001852869 RCV005600631
NM_000368.5(TSC1):c.733C>T (p.Arg245Ter)	SNV Germline	Chr9:132921367	Pathogenic/Likely pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 1 Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA008088	rs_118203434	16 SubmittersRCV000042345 RCV000201189 RCV000255397 RCV000491872
NM_000368.5(TSC1):c.737+1G>A	SNV Germline	Chr9:132921362	Pathogenic	Tuberous sclerosis syndrome Condition: not provided Tuberous sclerosis 1	Criteria Provided Multiple Submitters No Conflicts	CA008095	rs_118203438	6 SubmittersRCV000042346 RCV000189839 RCV001052124
NM_000368.5(TSC1):c.737+3A>G	SNV Germline	Chr9:132921360	Pathogenic/Likely pathogenic	Tuberous sclerosis syndrome Condition: not provided Hereditary cancer-predisposing syndrome Tuberous sclerosis 1	Criteria Provided Multiple Submitters No Conflicts	CA008108	rs_118203439	9 SubmittersRCV000042347 RCV000189840 RCV000561720 RCV000660331
NM_000368.5(TSC1):c.737G>A (p.Arg246Lys)	SNV Germline	Chr9:132921363	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome Condition: not provided Tuberous sclerosis 1	Criteria Provided Conflicting Classifications	CA008124	rs_118203436	5 SubmittersRCV000042348 RCV000724695 RCV000821093
NM_000368.5(TSC1):c.738-2A>G	SNV Germline	Chr9:132912459	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 1	Criteria Provided Multiple Submitters No Conflicts	CA008143	rs_118203440	4 SubmittersRCV000042351 RCV001221738
NM_000368.5(TSC1):c.749T>G (p.Leu250Ter)	SNV Germline	Chr9:132912446	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 1	Criteria Provided Single Submitter	CA008193	rs_118203447	2 SubmittersRCV000042357 RCV006461281
NM_000368.5(TSC1):c.772G>T (p.Glu258Ter)	SNV Germline	Chr9:132912423	Pathogenic	Tuberous sclerosis syndrome Condition: not provided Tuberous sclerosis 1	Criteria Provided Multiple Submitters No Conflicts	CA008208	rs_118203450	4 SubmittersRCV000042361 RCV001008650 RCV001797599
NM_000368.5(TSC1):c.825T>G (p.Tyr275Ter)	SNV Germline	Chr9:132912370	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 1	Criteria Provided Single Submitter	CA008254	rs_118203454	2 SubmittersRCV000042365 RCV000542283
NM_000368.5(TSC1):c.838C>T (p.Gln280Ter)	SNV Germline	Chr9:132912357	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 1	Criteria Provided Single Submitter	CA008302	rs_118203458	2 SubmittersRCV000042369 RCV005859483
NM_000368.5(TSC1):c.891T>G (p.Tyr297Ter)	SNV Germline	Chr9:132912304	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis syndrome Lymphangiomyomatosis Tuberous sclerosis 1	Criteria Provided Single Submitter	CA008344	rs_118203461	2 SubmittersRCV000042373 RCV000054984 RCV001852871
NM_000368.5(TSC1):c.901C>T (p.Gln301Ter)	SNV Germline	Chr9:132912294	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA008364	rs_118203463	4 SubmittersRCV000042374 RCV000703930 RCV005051745
NM_000368.5(TSC1):c.912T>G (p.Tyr304Ter)	SNV Germline	Chr9:132912283	Likely pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 1	Criteria Provided Single Submitter	CA008375	rs_118203466	2 SubmittersRCV000042377 RCV003153241
NM_000368.5(TSC1):c.913+1G>A	SNV Germline	Chr9:132912281	Pathogenic	Tuberous sclerosis syndrome Condition: not provided Tuberous sclerosis 1	Criteria Provided Multiple Submitters No Conflicts	CA008382	rs_118203470	5 SubmittersRCV000042379 RCV001090692 RCV001852872
NM_000368.5(TSC1):c.913G>A (p.Gly305Arg)	SNV Germline	Chr9:132912282	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA008396	rs_118203468	3 SubmittersRCV000042380 RCV000432455 RCV002371859
NM_000368.5(TSC1):c.973C>T (p.Gln325Ter)	SNV Germline	Chr9:132911509	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA008473	rs_118203474	5 SubmittersRCV000042385 RCV000201208 RCV000255408
NM_000548.5(TSC2):c.1029C>T (p.Thr343=)	SNV Germline	Chr16:2060723	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome Tuberous sclerosis 2	Criteria Provided Conflicting Classifications	CA013612	rs_45468201	3 SubmittersRCV000042392 RCV003764714
NM_000548.5(TSC2):c.1085T>C (p.Leu362Pro)	SNV Germline	Chr16:2060779	Pathogenic/Likely pathogenic	Tuberous sclerosis syndrome Condition: not provided Tuberous sclerosis 2	Criteria Provided Multiple Submitters No Conflicts	CA013704	rs_137854345	3 SubmittersRCV000042395 RCV000413741 RCV001065226
NM_000548.5(TSC2):c.1111C>T (p.Gln371Ter)	SNV Germline	Chr16:2060805	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA013813	rs_45469099	4 SubmittersRCV000042397 RCV000644081 RCV000760655
NM_000548.5(TSC2):c.1372C>T (p.Arg458Ter)	SNV Germline	Chr16:2062982	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2 Condition: not provided Lymphangiomyomatosis Hereditary cancer-predisposing syndrome Lymphangiomyomatosis Isolated focal cortical dysplasia type II Tuberous sclerosis 2	Criteria Provided Multiple Submitters No Conflicts	CA014613	rs_45517169	12 SubmittersRCV000042408 RCV000201131 RCV000441085 RCV004798759 RCV004943735 RCV004795963
NM_000548.5(TSC2):c.138+2T>C	SNV Germline	Chr16:2048755	Pathogenic	Tuberous sclerosis syndrome Condition: not provided Tuberous sclerosis 2	Criteria Provided Multiple Submitters No Conflicts	CA014657	rs_137854226	4 SubmittersRCV000042410 RCV000518195 RCV001852874
NM_000548.5(TSC2):c.1440T>G (p.Tyr480Ter)	SNV Germline	Chr16:2063050	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2	Criteria Provided Single Submitter	CA014804	rs_45514794	2 SubmittersRCV000042414 RCV005620895
NM_000548.5(TSC2):c.1477C>G (p.Leu493Val)	SNV Germline	Chr16:2064305	Likely pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA014935	rs_45517177	3 SubmittersRCV000042417 RCV001056606 RCV003162356
NM_000548.5(TSC2):c.1778A>G (p.His593Arg)	SNV Germline	Chr16:2070517	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome Tuberous sclerosis 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA015696	rs_45517198	5 SubmittersRCV000042429 RCV001298722 RCV001565367
NM_000548.5(TSC2):c.1783C>T (p.Gln595Ter)	SNV Germline	Chr16:2070522	Pathogenic	Tuberous sclerosis syndrome Condition: not provided Tuberous sclerosis 2	Criteria Provided Multiple Submitters No Conflicts	CA015705	rs_45517199	4 SubmittersRCV000042430 RCV000993366 RCV003511983
NM_000548.5(TSC2):c.1792T>C (p.Tyr598His)	SNV Germline	Chr16:2070531	Likely pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2	Criteria Provided Multiple Submitters No Conflicts	CA015786	rs_45517201	3 SubmittersRCV000042431 RCV001852875
NM_000548.5(TSC2):c.1831C>G (p.Arg611Gly)	SNV Germline	Chr16:2070570	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2	Criteria Provided Multiple Submitters No Conflicts	CA015905	rs_45469298	3 SubmittersRCV000042433 RCV001388105
NM_000548.5(TSC2):c.1860G>A (p.Leu620=)	SNV Germline	Chr16:2071530	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome not specified Hereditary cancer-predisposing syndrome Condition: not provided Tuberous sclerosis 2 TSC2-related disorder	Criteria Provided Conflicting Classifications	CA016057	rs_45492397	13 SubmittersRCV000042436 RCV000125656 RCV000570009 RCV000726515 RCV001084136 RCV004528235
NM_000548.5(TSC2):c.2095C>T (p.Gln699Ter)	SNV Germline	Chr16:2071932	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA016676	rs_45517210	3 SubmittersRCV000042447 RCV001852876 RCV003231112
NM_000548.5(TSC2):c.2221-1G>C	SNV Germline	Chr16:2072848	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 1 Tuberous sclerosis 2	Criteria Provided Multiple Submitters No Conflicts	CA016978	rs_45517218	3 SubmittersRCV000042454 RCV004783731 RCV005255559
NM_000548.5(TSC2):c.2225C>G (p.Ser742Ter)	SNV Germline	Chr16:2072853	Pathogenic	Tuberous sclerosis syndrome Condition: not provided TSC2-related disorder	Criteria Provided Single Submitter	CA017007	rs_45517220	3 SubmittersRCV000042456 RCV004700312 RCV004541218
NM_000548.5(TSC2):c.226-2A>G	SNV Germline	Chr16:2053340	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2	Criteria Provided Single Submitter	CA017124	rs_45517096	2 SubmittersRCV000042457 RCV000201113
NM_000548.5(TSC2):c.2356-1G>A	SNV Germline	Chr16:2074199	Pathogenic	Tuberous sclerosis syndrome Condition: not provided Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA017248	rs_45481704	5 SubmittersRCV000042462 RCV000520834 RCV001250498 RCV002444496
NM_000548.5(TSC2):c.2356-2A>C	SNV Germline	Chr16:2074198	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2	Criteria Provided Single Submitter	CA017255	rs_45517229	2 SubmittersRCV000042463 RCV000201046
NM_000548.5(TSC2):c.2407C>T (p.Gln803Ter)	SNV Germline	Chr16:2074251	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2	Criteria Provided Single Submitter	CA017379	rs_45517234	2 SubmittersRCV000042465 RCV001202863
NM_000548.5(TSC2):c.2440G>A (p.Glu814Lys)	SNV Germline	Chr16:2074284	Likely pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2	Criteria Provided Single Submitter	CA017424	rs_45485395	2 SubmittersRCV000042467 RCV006461282
NM_000548.5(TSC2):c.251C>T (p.Ala84Val)	SNV Germline	Chr16:2053367	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome Tuberous sclerosis syndrome Lymphangiomyomatosis Condition: not provided Hereditary cancer-predisposing syndrome Tuberous sclerosis 2 not specified Sarcoma	Criteria Provided Conflicting Classifications	CA017545	rs_35660529	16 SubmittersRCV000042470 RCV000055051 RCV000589638 RCV000575144 RCV001084150 RCV001729369 RCV005890297
NM_000548.5(TSC2):c.2661T>A (p.Cys887Ter)	SNV Germline	Chr16:2076089	Pathogenic	Tuberous sclerosis syndrome Condition: not provided Tuberous sclerosis 2	Criteria Provided Multiple Submitters No Conflicts	CA017829	rs_45475594	3 SubmittersRCV000042480 RCV003114222 RCV006461283
NM_000548.5(TSC2):c.2798T>G (p.Phe933Cys)	SNV Germline	Chr16:2076546	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome TSC2-related disorder Tuberous sclerosis 2 Isolated focal cortical dysplasia type II Lymphangiomyomatosis	Criteria Provided Conflicting Classifications	CA018204	rs_45517269	7 SubmittersRCV000042492 RCV000556585 RCV002433524 RCV004734592 RCV005016328
NM_000548.5(TSC2):c.2887G>A (p.Val963Met)	SNV Germline	Chr16:2077647	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA018311	rs_45517275	11 SubmittersRCV000042494 RCV000460965 RCV001016860 RCV001563228 RCV002271386
NM_000548.5(TSC2):c.2974C>T (p.Gln992Ter)	SNV Germline	Chr16:2079039	Pathogenic	Tuberous sclerosis syndrome Hereditary cancer-predisposing syndrome Tuberous sclerosis 2	Criteria Provided Multiple Submitters No Conflicts	CA018343	rs_45438592	4 SubmittersRCV000042495 RCV002433525 RCV006461284
NM_000548.5(TSC2):c.3094C>T (p.Arg1032Ter)	SNV Germline	Chr16:2079159	Pathogenic	Tuberous sclerosis syndrome Condition: not provided Tuberous sclerosis 2 Lymphangiomyomatosis Isolated focal cortical dysplasia type II Tuberous sclerosis 2 TSC2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA018490	rs_45465195	11 SubmittersRCV000042499 RCV000404065 RCV000462671 RCV002483039 RCV004537161
NM_000548.5(TSC2):c.3095G>C (p.Arg1032Pro)	SNV Germline	Chr16:2079160	Pathogenic/Likely pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA018497	rs_45491698	7 SubmittersRCV000042500 RCV000201071 RCV005255560
NM_000548.5(TSC2):c.3131+1G>A	SNV Germline	Chr16:2079197	Pathogenic	Tuberous sclerosis syndrome Condition: not provided Tuberous sclerosis 2 Lymphangiomyomatosis Isolated focal cortical dysplasia type II Tuberous sclerosis 2	Criteria Provided Multiple Submitters No Conflicts	CA018580	rs_45506401	5 SubmittersRCV000042503 RCV000520072 RCV001063941 RCV004795964
NM_000548.5(TSC2):c.3132-1G>C	SNV Germline	Chr16:2079275	Likely pathogenic	Tuberous sclerosis syndrome Condition: not provided Lung cancer	Criteria Provided Multiple Submitters No Conflicts	CA018622	rs_45443096	5 SubmittersRCV000042504 RCV001536134 RCV005890301
NM_000548.5(TSC2):c.3212C>G (p.Thr1071Arg)	SNV Germline	Chr16:2079356	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2	Criteria Provided Single Submitter	CA018689	rs_45498892	2 SubmittersRCV000042506 RCV002513616
NM_000548.5(TSC2):c.3252C>G (p.Asp1084Glu)	SNV Germline	Chr16:2079396	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA018744	rs_45517286	4 SubmittersRCV000042507 RCV000229678 RCV003343620
NM_000548.5(TSC2):c.3343C>T (p.Gln1115Ter)	SNV Germline	Chr16:2079615	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2 TSC2-related disorder	Criteria Provided Single Submitter	CA018915	rs_137854253	3 SubmittersRCV000042511 RCV000801625 RCV004537162
NM_000548.5(TSC2):c.337-1G>T	SNV Germline	Chr16:2054295	Pathogenic	Tuberous sclerosis syndrome Hereditary cancer-predisposing syndrome Tuberous sclerosis 2	Criteria Provided Multiple Submitters No Conflicts	CA019020	rs_45517105	3 SubmittersRCV000042512 RCV002453337 RCV005089386
NM_000548.5(TSC2):c.3397+1G>A	SNV Germline	Chr16:2079670	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2 Lymphangiomyomatosis Isolated focal cortical dysplasia type II Tuberous sclerosis 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA019073	rs_137854208	5 SubmittersRCV000042515 RCV001225613 RCV002490589 RCV005620338
NM_000548.5(TSC2):c.3412C>T (p.Arg1138Ter)	SNV Germline	Chr16:2080179	Pathogenic	Tuberous sclerosis syndrome Condition: not provided Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Lymphangiomyomatosis Isolated focal cortical dysplasia type II Tuberous sclerosis 2	Criteria Provided Multiple Submitters No Conflicts	CA019122	rs_45451497	11 SubmittersRCV000042516 RCV000190075 RCV000201090 RCV000491678 RCV002483040
NM_000548.5(TSC2):c.3430G>T (p.Val1144Leu)	SNV Germline	Chr16:2080197	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome Hereditary cancer-predisposing syndrome Tuberous sclerosis 2	Criteria Provided Conflicting Classifications	CA019160	rs_45517294	4 SubmittersRCV000042518 RCV001020293 RCV001057920
NM_000548.5(TSC2):c.3532C>T (p.Gln1178Ter)	SNV Germline	Chr16:2080299	Pathogenic	Tuberous sclerosis syndrome Condition: not provided Tuberous sclerosis 2	Criteria Provided Multiple Submitters No Conflicts	CA019253	rs_45517297	4 SubmittersRCV000042522 RCV000481829 RCV000694582
NM_000548.5(TSC2):c.3610+1G>A	SNV Germline	Chr16:2080378	Pathogenic	Tuberous sclerosis syndrome Lymphangiomyomatosis Tuberous sclerosis 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA019341	rs_45517299	7 SubmittersRCV000042523 RCV000055354 RCV001045249 RCV001508402
NM_000548.5(TSC2):c.3610+6G>A	SNV Germline	Chr16:2080383	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome not specified Condition: not provided Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Intellectual disability	Criteria Provided Conflicting Classifications	CA019357	rs_45517301	21 SubmittersRCV000042525 RCV000125673 RCV000726033 RCV001081073 RCV002255266 RCV005625246
NM_000548.5(TSC2):c.3611-9C>T	SNV Germline	Chr16:2081586	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome Tuberous sclerosis 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA019379	rs_45517304	4 SubmittersRCV000042526 RCV000529964 RCV004998135
NM_000548.5(TSC2):c.3662C>A (p.Ser1221Ter)	SNV Germline	Chr16:2081646	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2	Criteria Provided Single Submitter	CA019446	rs_45517305	2 SubmittersRCV000042528 RCV000543360
NM_000548.5(TSC2):c.3685C>T (p.Gln1229Ter)	SNV Germline	Chr16:2081669	Pathogenic	Tuberous sclerosis syndrome Condition: not provided Tuberous sclerosis 2	Criteria Provided Multiple Submitters No Conflicts	CA019470	rs_45517306	6 SubmittersRCV000042529 RCV000760363 RCV001036695
NM_000548.5(TSC2):c.3723C>T (p.Phe1241=)	SNV Germline	Chr16:2081707	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome Hereditary cancer-predisposing syndrome Condition: not provided Tuberous sclerosis 2	Criteria Provided Conflicting Classifications	CA019510	rs_45486193	15 SubmittersRCV000042530 RCV000163886 RCV000713929 RCV001082224
NM_000548.5(TSC2):c.4023C>A (p.Ser1341Arg)	SNV Germline	Chr16:2084245	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome Tuberous sclerosis 2 Condition: not provided Hereditary cancer-predisposing syndrome TSC2-related disorder not specified	Criteria Provided Conflicting Classifications	CA019836	rs_45462593	10 SubmittersRCV000042541 RCV000457664 RCV001703933 RCV002354223 RCV004537163 RCV006258941
NM_000548.5(TSC2):c.4290G>A (p.Trp1430Ter)	SNV Germline	Chr16:2084512	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2	Criteria Provided Single Submitter	CA020204	rs_45517334	2 SubmittersRCV000042550 RCV002513618
NM_000548.5(TSC2):c.4349C>G (p.Pro1450Arg)	SNV Germline	Chr16:2084571	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome Hereditary cancer-predisposing syndrome Condition: not provided Tuberous sclerosis 2	Criteria Provided Conflicting Classifications	CA020293	rs_45517338	9 SubmittersRCV000042552 RCV000562910 RCV000713934 RCV001079491
NM_000548.5(TSC2):c.4355C>A (p.Ser1452Ter)	SNV Germline	Chr16:2084577	Pathogenic	Tuberous sclerosis syndrome Condition: not provided	Criteria Provided Single Submitter	CA020316	rs_45517339	2 SubmittersRCV000042553 RCV002273945
NM_000548.5(TSC2):c.4507C>T (p.Gln1503Ter)	SNV Germline	Chr16:2084964	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2 Condition: not provided Tuberous sclerosis 2 Lymphangiomyomatosis Isolated focal cortical dysplasia type II Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA020569	rs_45517348	9 SubmittersRCV000042560 RCV000553662 RCV000627231 RCV002477138 RCV003380406
NM_000548.5(TSC2):c.4573C>T (p.Gln1525Ter)	SNV Germline	Chr16:2085233	Pathogenic	Tuberous sclerosis syndrome Condition: not provided Tuberous sclerosis 2	Criteria Provided Multiple Submitters No Conflicts	CA020707	rs_45517352	5 SubmittersRCV000042565 RCV000190034 RCV001042432
NM_000548.5(TSC2):c.4663-1G>A	SNV Germline	Chr16:2086192	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2	Criteria Provided Single Submitter	CA020864	rs_45517358	2 SubmittersRCV000042572 RCV001388268
NM_000548.5(TSC2):c.4727C>T (p.Thr1576Met)	SNV Germline	Chr16:2086257	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Condition: not provided TSC2-related disorder	Criteria Provided Conflicting Classifications	CA020954	rs_45437192	9 SubmittersRCV000042577 RCV000545050 RCV001022958 RCV001697037 RCV004734593
NM_000548.5(TSC2):c.478C>G (p.Leu160Val)	SNV Germline	Chr16:2054437	Likely pathogenic	Tuberous sclerosis syndrome Condition: not provided	Criteria Provided Single Submitter	CA021005	rs_45517109	2 SubmittersRCV000042579 RCV000518124
NM_000548.5(TSC2):c.4790T>C (p.Leu1597Pro)	SNV Germline	Chr16:2086320	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2	Criteria Provided Single Submitter	CA021009	rs_45517370	2 SubmittersRCV000042580 RCV005089387
NM_000548.5(TSC2):c.481+1G>T	SNV Germline	Chr16:2054441	Pathogenic	Tuberous sclerosis syndrome	Criteria Provided Single Submitter	CA021010	rs_45488500	2 SubmittersRCV000042581
NM_000548.5(TSC2):c.4829G>A (p.Trp1610Ter)	SNV Germline	Chr16:2086359	Pathogenic	Tuberous sclerosis syndrome Condition: not provided Tuberous sclerosis 2	Criteria Provided Multiple Submitters No Conflicts	CA021071	rs_45517371	3 SubmittersRCV000042583 RCV000268236 RCV002513619
NM_000548.5(TSC2):c.4846C>T (p.Gln1616Ter)	SNV Germline	Chr16:2086376	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2 Condition: not provided Thyroid cancer, nonmedullary, 1	Criteria Provided Multiple Submitters No Conflicts	CA021087	rs_45455296	8 SubmittersRCV000042586 RCV000470698 RCV001091866 RCV005890309
NM_000548.5(TSC2):c.4858C>T (p.His1620Tyr)	SNV Germline	Chr16:2086740	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2 TSC2-related disorder Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA021147	rs_45446901	4 SubmittersRCV000042587 RCV001383217 RCV004724772 RCV005502749
NM_000548.5(TSC2):c.4911G>A (p.Lys1637=)	SNV Germline	Chr16:2086793	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome not specified Hereditary cancer-predisposing syndrome Tuberous sclerosis 2 Condition: not provided Tuberous sclerosis 2 Isolated focal cortical dysplasia type II Lymphangiomyomatosis	Criteria Provided Conflicting Classifications	CA021233	rs_35282988	18 SubmittersRCV000042591 RCV000125693 RCV000163430 RCV000227843 RCV001579733 RCV005394252
NM_000548.5(TSC2):c.4918C>T (p.His1640Tyr)	SNV Germline	Chr16:2086800	Pathogenic/Likely pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2	Criteria Provided Multiple Submitters No Conflicts	CA021270	rs_45485092	5 SubmittersRCV000042593 RCV001042053
NM_000548.5(TSC2):c.4949A>G (p.Tyr1650Cys)	SNV Germline/somatic	Chr16:2086831	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome Everolimus response Hereditary cancer-predisposing syndrome Tuberous sclerosis 2	Criteria Provided Conflicting Classifications	CA021378	rs_45501091	4 SubmittersRCV000042594 RCV000590964 RCV002336158 RCV006461286
NM_000548.5(TSC2):c.4952A>G (p.Asn1651Ser)	SNV Germline	Chr16:2086834	Pathogenic	Tuberous sclerosis syndrome Condition: not provided Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA021383	rs_45517382	8 SubmittersRCV000042595 RCV000359328 RCV000543686 RCV002336159
NM_000548.5(TSC2):c.4958C>T (p.Ser1653Phe)	SNV Germline	Chr16:2086840	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome Tuberous sclerosis 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA021398	rs_45517383	4 SubmittersRCV000042596 RCV001242240 RCV006277681
NM_000548.5(TSC2):c.4993C>T (p.Gln1665Ter)	SNV Germline	Chr16:2087866	Pathogenic	Tuberous sclerosis syndrome Condition: not provided Tuberous sclerosis 2	Criteria Provided Multiple Submitters No Conflicts	CA021488	rs_45448101	5 SubmittersRCV000042600 RCV000302325 RCV001048099
NM_000548.5(TSC2):c.5043C>G (p.Asn1681Lys)	SNV Germline	Chr16:2087916	Pathogenic	Tuberous sclerosis syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Single Submitter	CA021576	rs_45476793	2 SubmittersRCV000042602 RCV003298086
NM_000548.5(TSC2):c.5050T>C (p.Ser1684Pro)	SNV Germline	Chr16:2087923	Likely pathogenic	Tuberous sclerosis syndrome Condition: not provided	Criteria Provided Single Submitter	CA021580	rs_45517387	2 SubmittersRCV000042603 RCV004998136
NM_000548.5(TSC2):c.5068G>T (p.Asp1690Tyr)	SNV Germline	Chr16:2087941	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2	Criteria Provided Single Submitter	CA021630	rs_137854882	2 SubmittersRCV000042604 RCV000553605
NM_000548.5(TSC2):c.5069-18A>G	SNV Germline	Chr16:2088030	Pathogenic/Likely pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2	Criteria Provided Multiple Submitters No Conflicts	CA021636	rs_45484794	3 SubmittersRCV000042605 RCV001068320
NM_000548.5(TSC2):c.5110T>A (p.Ser1704Thr)	SNV Germline	Chr16:2088089	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome Condition: not provided Hereditary cancer-predisposing syndrome Tuberous sclerosis 2	Criteria Provided Conflicting Classifications	CA021746	rs_45474691	6 SubmittersRCV000042608 RCV000441153 RCV000565772 RCV001079156
NM_000548.5(TSC2):c.5126C>G (p.Pro1709Arg)	SNV Germline	Chr16:2088105	Pathogenic	Tuberous sclerosis syndrome Condition: not provided	Criteria Provided Single Submitter	CA021789	rs_45517393	2 SubmittersRCV000042610 RCV000517378
NM_000548.5(TSC2):c.5140C>T (p.Gln1714Ter)	SNV Germline	Chr16:2088119	Pathogenic	Tuberous sclerosis syndrome not specified Tuberous sclerosis 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA021852	rs_45517396	5 SubmittersRCV000042611 RCV000506833 RCV000793317 RCV006258942
NM_000548.5(TSC2):c.5150T>C (p.Leu1717Pro)	SNV Germline	Chr16:2088129	Likely pathogenic	Tuberous sclerosis syndrome Condition: not provided Tuberous sclerosis 2	Criteria Provided Multiple Submitters No Conflicts	CA021894	rs_45517398	4 SubmittersRCV000042612 RCV000190040 RCV001797601
NM_000548.5(TSC2):c.5219G>A (p.Trp1740Ter)	SNV Germline	Chr16:2088285	Pathogenic	Tuberous sclerosis syndrome Condition: not provided Tuberous sclerosis 2	Criteria Provided Multiple Submitters No Conflicts	CA022169	rs_137854219	3 SubmittersRCV000042622 RCV000388680 RCV001852882
NM_000548.5(TSC2):c.5220G>A (p.Trp1740Ter)	SNV Germline	Chr16:2088286	Pathogenic	Tuberous sclerosis syndrome Condition: not provided Tuberous sclerosis 2	Criteria Provided Multiple Submitters No Conflicts	CA022177	rs_45517411	5 SubmittersRCV000042623 RCV000493371 RCV000802438
NM_000548.5(TSC2):c.5254C>T (p.Gln1752Ter)	SNV Germline	Chr16:2088320	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome Condition: not provided Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Isolated focal cortical dysplasia type II Tuberous sclerosis 2 Lymphangiomyomatosis	Criteria Provided Conflicting Classifications	CA022307	rs_45517414	8 SubmittersRCV000042627 RCV000271618 RCV001797602 RCV002313736 RCV005394253
NM_000548.5(TSC2):c.593T>C (p.Met198Thr)	SNV Germline	Chr16:2055513	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome not specified Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA022610	rs_45517114	7 SubmittersRCV000042635 RCV000455251 RCV001370970 RCV004018921
NM_000548.5(TSC2):c.598C>T (p.Gln200Ter)	SNV Germline	Chr16:2055518	Pathogenic	Tuberous sclerosis syndrome	Criteria Provided Single Submitter	CA022625	rs_45517115	2 SubmittersRCV000042636
NM_000548.5(TSC2):c.599+1G>A	SNV Germline	Chr16:2055520	Pathogenic/Likely pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA022627	rs_45460895	4 SubmittersRCV000042637 RCV002513622 RCV005502750
NM_000548.5(TSC2):c.646G>A (p.Glu216Lys)	SNV Germline	Chr16:2056242	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome Tuberous sclerosis 2 Lymphangiomyomatosis Isolated focal cortical dysplasia type II Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Isolated focal cortical dysplasia type II Condition: not provided	Criteria Provided Conflicting Classifications	CA022720	rs_45517118	10 SubmittersRCV000042639 RCV000644252 RCV002490591 RCV002354224 RCV003466894 RCV004998137
NM_000548.5(TSC2):c.646G>T (p.Glu216Ter)	SNV Germline	Chr16:2056242	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2	Criteria Provided Single Submitter	CA022725	rs_45517118	2 SubmittersRCV000042640 RCV000201082
NM_000548.5(TSC2):c.736A>G (p.Thr246Ala)	SNV Germline	Chr16:2056731	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome Tuberous sclerosis 2 not specified Condition: not provided Hereditary cancer-predisposing syndrome Isolated focal cortical dysplasia type II	Criteria Provided Conflicting Classifications	CA022910	rs_137854123	9 SubmittersRCV000042644 RCV000554931 RCV000612409 RCV002288539 RCV002381326 RCV003460556
NM_000548.5(TSC2):c.774+2T>A	SNV Germline	Chr16:2056771	Pathogenic	Tuberous sclerosis syndrome Condition: not provided	Criteria Provided Single Submitter	CA022955	rs_45517129	2 SubmittersRCV000042645 RCV002307378
NM_000548.5(TSC2):c.849-1G>A	SNV Germline	Chr16:2058746	Pathogenic/Likely pathogenic	Tuberous sclerosis syndrome Condition: not provided Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA023038	rs_45506396	5 SubmittersRCV000042648 RCV000439973 RCV001039254 RCV002444497
NM_000548.5(TSC2):c.976-15G>A	SNV Germline	Chr16:2060655	Pathogenic/Likely pathogenic	Tuberous sclerosis syndrome Condition: not provided Tuberous sclerosis 2 Tuberous sclerosis 2 Isolated focal cortical dysplasia type II Lymphangiomyomatosis TSC2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA023219	rs_45517150	10 SubmittersRCV000042656 RCV000189971 RCV000465503 RCV002483043 RCV004537165
NM_000548.5(TSC2):c.976-1G>A	SNV Germline	Chr16:2060669	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2	Criteria Provided Single Submitter	CA023222	rs_45451199	2 SubmittersRCV000042657 RCV000644206
NM_000548.5(TSC2):c.880G>A (p.Gly294Arg)	SNV Germline	Chr16:2058778	Pathogenic	Lymphangiomyomatosis Tuberous sclerosis syndrome Tuberous sclerosis 2 Tuberous sclerosis syndrome	Criteria Provided Multiple Submitters No Conflicts	CA023075	rs_45517139	3 SubmittersRCV000042662 RCV002513623 RCV003333730
NM_000548.5(TSC2):c.911G>A (p.Trp304Ter)	SNV Germline	Chr16:2058809	Pathogenic	Tuberous sclerosis syndrome Condition: not provided TSC2-related disorder Tuberous sclerosis 2	Criteria Provided Multiple Submitters No Conflicts	CA023109	rs_45517140	4 SubmittersRCV000042665 RCV003150939 RCV004537166 RCV005089389
NM_000548.5(TSC2):c.648+1G>A	SNV Germline	Chr16:2056245	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2	Criteria Provided Multiple Submitters No Conflicts	CA022731	rs_45488893	5 SubmittersRCV000042670 RCV000201164
NM_000548.5(TSC2):c.658C>T (p.Gln220Ter)	SNV Germline	Chr16:2056653	Pathogenic	Tuberous sclerosis syndrome Condition: not provided Tuberous sclerosis 2	Criteria Provided Multiple Submitters No Conflicts	CA022760	rs_45517119	6 SubmittersRCV000042671 RCV000520962 RCV000699187
NM_000548.5(TSC2):c.5160+1G>A	SNV Germline	Chr16:2088140	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2 Condition: not provided Tuberous sclerosis 2 Isolated focal cortical dysplasia type II Lymphangiomyomatosis	Criteria Provided Multiple Submitters No Conflicts	CA021915	rs_45517399	7 SubmittersRCV000042685 RCV000201137 RCV000485999 RCV002496673
NM_000548.5(TSC2):c.5160+1G>T	SNV Germline	Chr16:2088140	Pathogenic/Likely pathogenic	Tuberous sclerosis syndrome Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA021925	rs_45517399	3 SubmittersRCV000042687 RCV000441636 RCV005502752
NM_000548.5(TSC2):c.5160+5G>A	SNV Germline	Chr16:2088144	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2	Criteria Provided Single Submitter	CA021966	rs_45515392	2 SubmittersRCV000042689 RCV001852885
NM_000548.5(TSC2):c.5034C>A (p.Tyr1678Ter)	SNV Germline	Chr16:2087907	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2	Criteria Provided Single Submitter	CA021559	rs_45467993	2 SubmittersRCV000042697 RCV001852886
NM_000548.5(TSC2):c.5056C>T (p.Gln1686Ter)	SNV Germline	Chr16:2087929	Pathogenic	Tuberous sclerosis syndrome Condition: not provided Tuberous sclerosis 2	Criteria Provided Multiple Submitters No Conflicts	CA021591	rs_45517388	5 SubmittersRCV000042700 RCV000713942 RCV003326118
NM_000548.5(TSC2):c.5065A>G (p.Lys1689Glu)	SNV Germline	Chr16:2087938	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA021601	rs_137854315	4 SubmittersRCV000042701 RCV000822377 RCV002336160 RCV004998139
NM_000548.5(TSC2):c.5068+9G>A	SNV Germline	Chr16:2087950	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome not specified Condition: not provided Tuberous sclerosis 2 Uterine corpus endometrial carcinoma Cholangiocarcinoma	Criteria Provided Conflicting Classifications	CA021623	rs_45445593	11 SubmittersRCV000042702 RCV000177971 RCV000724754 RCV001079713 RCV005890311 RCV005890310
NM_000548.5(TSC2):c.5068G>C (p.Asp1690His)	SNV Germline	Chr16:2087941	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2	Criteria Provided Single Submitter	CA021629	rs_137854882	2 SubmittersRCV000042703 RCV003626600
NM_000548.5(TSC2):c.5208C>A (p.Tyr1736Ter)	SNV Germline	Chr16:2088274	Pathogenic	Tuberous sclerosis 2 Tuberous sclerosis syndrome	Criteria Provided Single Submitter	CA022148	rs_45517410	2 SubmittersRCV001781366 RCV000042713
NM_000548.5(TSC2):c.4943T>C (p.Ile1648Thr)	SNV Germline	Chr16:2086825	Pathogenic/Likely pathogenic	Tuberous sclerosis syndrome Condition: not provided Tuberous sclerosis 2 Lymphangiomyomatosis Isolated focal cortical dysplasia type II Tuberous sclerosis 2	Criteria Provided Multiple Submitters No Conflicts	CA021368	rs_45471896	5 SubmittersRCV000042718 RCV001557106 RCV002514167 RCV003224798
NM_000548.5(TSC2):c.4783G>A (p.Gly1595Arg)	SNV Germline	Chr16:2086313	Likely pathogenic	Tuberous sclerosis syndrome Condition: not provided Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA021000	rs_45517369	4 SubmittersRCV000042724 RCV001508405 RCV001852888 RCV003162357
NM_000548.5(TSC2):c.4989+1G>A	SNV Germline	Chr16:2086872	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2	Criteria Provided Multiple Submitters No Conflicts	CA021454	rs_45517386	5 SubmittersRCV000042728 RCV000201203
NM_000548.5(TSC2):c.5227C>T (p.Arg1743Trp)	SNV Germline/somatic	Chr16:2088293	Pathogenic	Tuberous sclerosis syndrome Condition: not provided Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Lymphangiomyomatosis Isolated focal cortical dysplasia type II Tuberous sclerosis 2 TSC2-related disorder Subependymal giant-cell astrocytoma	Criteria Provided Multiple Submitters No Conflicts	CA022213	rs_45517412	16 SubmittersRCV000042731 RCV000190076 RCV000201065 RCV000491169 RCV000763368 RCV004537168 RCV006253750
NM_000548.5(TSC2):c.4579T>C (p.Phe1527Leu)	SNV Germline	Chr16:2085239	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Condition: not provided TSC2-related disorder	Criteria Provided Conflicting Classifications	CA020719	rs_45514391	8 SubmittersRCV000042733 RCV000644318 RCV001022730 RCV001697067 RCV004537169
NM_000548.5(TSC2):c.4606C>T (p.Gln1536Ter)	SNV Germline	Chr16:2085266	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2	Criteria Provided Single Submitter	CA020763	rs_45495796	2 SubmittersRCV000042735 RCV005089390
NM_000548.5(TSC2):c.4620C>A (p.Tyr1540Ter)	SNV Germline	Chr16:2085280	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2	Criteria Provided Multiple Submitters No Conflicts	CA020767	rs_45455897	3 SubmittersRCV000042736 RCV001831715
NM_000548.5(TSC2):c.4646A>G (p.Tyr1549Cys)	SNV Germline/somatic	Chr16:2085306	Pathogenic/Likely pathogenic	Tuberous sclerosis syndrome Condition: not provided Tuberous sclerosis 2 Subependymal giant-cell astrocytoma	Criteria Provided Multiple Submitters No Conflicts	CA020809	rs_45517355	5 SubmittersRCV000042739 RCV000412893 RCV001036250 RCV006253751
NM_000548.5(TSC2):c.4662G>A (p.Gln1554=)	SNV Germline	Chr16:2085322	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2	Criteria Provided Multiple Submitters No Conflicts	CA020851	rs_137854880	3 SubmittersRCV000042745 RCV001224625
NM_000548.5(TSC2):c.4662G>T (p.Gln1554His)	SNV Germline	Chr16:2085322	Pathogenic/Likely pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2	Criteria Provided Multiple Submitters No Conflicts	CA020857	rs_137854880	3 SubmittersRCV000042746 RCV001232925
NM_000548.5(TSC2):c.4489C>A (p.Pro1497Thr)	SNV Germline	Chr16:2084711	Pathogenic/Likely pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA020509	rs_45517344	5 SubmittersRCV000042750 RCV001852889 RCV003441731
NM_000548.5(TSC2):c.4490C>G (p.Pro1497Arg)	SNV Germline	Chr16:2084712	Pathogenic	Tuberous sclerosis syndrome Hereditary cancer-predisposing syndrome Tuberous sclerosis 2	Criteria Provided Multiple Submitters No Conflicts	CA020517	rs_45497997	3 SubmittersRCV000042751 RCV002326760 RCV003511986
NM_000548.5(TSC2):c.4494-1G>A	SNV Germline	Chr16:2084950	Likely pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2	Criteria Provided Single Submitter	CA020543	rs_45517346	2 SubmittersRCV000042752 RCV000660348
NM_000548.5(TSC2):c.4138C>T (p.Gln1380Ter)	SNV Germline	Chr16:2084360	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2 Tuberous sclerosis 1	Criteria Provided Multiple Submitters No Conflicts	CA019994	rs_137854045	4 SubmittersRCV000042757 RCV001062658 RCV005644497
NM_000548.5(TSC2):c.4509G>T (p.Gln1503His)	SNV Germline	Chr16:2084966	Likely pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2	Criteria Provided Single Submitter	CA020576	rs_45517349	2 SubmittersRCV000042758 RCV002250506
NM_000548.5(TSC2):c.3884-17C>G	SNV Germline	Chr16:2083678	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome not specified Hereditary cancer-predisposing syndrome Condition: not provided Tuberous sclerosis 2 Familial cancer of breast	Criteria Provided Conflicting Classifications	CA019629	rs_45517317	13 SubmittersRCV000042773 RCV000125680 RCV000210793 RCV001579953 RCV001797604 RCV005890312
NM_000548.5(TSC2):c.3884-2A>T	SNV Germline	Chr16:2083693	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2	Criteria Provided Single Submitter	CA019641	rs_137854053	2 SubmittersRCV000042775 RCV003626601
NM_000548.5(TSC2):c.4298C>A (p.Ser1433Ter)	SNV Germline	Chr16:2084520	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2	Criteria Provided Single Submitter	CA020214	rs_45517335	2 SubmittersRCV000042776 RCV001070626
NM_000548.5(TSC2):c.4712A>G (p.Tyr1571Cys)	SNV Germline	Chr16:2086242	Likely pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2	Criteria Provided Single Submitter	CA020940	rs_45478894	2 SubmittersRCV000042778 RCV001852890
NM_000548.5(TSC2):c.3956A>T (p.Asp1319Val)	SNV Germline	Chr16:2083767	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome Tuberous sclerosis 2 Tuberous sclerosis 2 Isolated focal cortical dysplasia type II Lymphangiomyomatosis Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA019742	rs_45517322	6 SubmittersRCV000042782 RCV000541237 RCV000764029 RCV001021518
NM_000548.5(TSC2):c.4318C>T (p.Gln1440Ter)	SNV Germline	Chr16:2084540	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA020269	rs_45517337	6 SubmittersRCV000042784 RCV000201035 RCV000521569
NM_000548.5(TSC2):c.3610G>A (p.Gly1204Arg)	SNV Germline	Chr16:2080377	Likely pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA019365	rs_1555511663	3 SubmittersRCV000042787 RCV000660346 RCV004760356
NM_000548.5(TSC2):c.3622T>G (p.Trp1208Gly)	SNV Germline	Chr16:2081606	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome not specified Tuberous sclerosis 2	Criteria Provided Conflicting Classifications	CA019409	rs_45482795	4 SubmittersRCV000042789 RCV000254034 RCV001069687
NM_000548.5(TSC2):c.4044C>T (p.His1348=)	SNV Germline	Chr16:2084266	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome not specified Condition: not provided Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome TSC2-related disorder	Criteria Provided Conflicting Classifications	CA019871	rs_137854084	12 SubmittersRCV000042797 RCV000607727 RCV000731867 RCV001086992 RCV002256025 RCV004537170
NM_000548.5(TSC2):c.3082G>A (p.Asp1028Asn)	SNV Germline	Chr16:2079147	Likely pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2	Criteria Provided Single Submitter	CA018473	rs_45517280	2 SubmittersRCV000042807 RCV005089391
NM_000548.5(TSC2):c.3750C>A (p.Tyr1250Ter)	SNV Germline	Chr16:2081734	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2	Criteria Provided Single Submitter	CA019518	rs_45517308	2 SubmittersRCV000042809 RCV000810322
NM_000548.5(TSC2):c.3750C>G (p.Tyr1250Ter)	SNV Germline	Chr16:2081734	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2	Criteria Provided Multiple Submitters No Conflicts	CA019521	rs_45517308	5 SubmittersRCV000042810 RCV002266913
NM_000548.5(TSC2):c.3429C>T (p.Asp1143=)	SNV Germline	Chr16:2080196	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome Hereditary cancer-predisposing syndrome Tuberous sclerosis 2 Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA019149	rs_45487691	13 SubmittersRCV000042813 RCV000163685 RCV000228389 RCV001171694 RCV005434620
NM_000548.5(TSC2):c.4096G>T (p.Glu1366Ter)	SNV Germline	Chr16:2084318	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA019945	rs_45517327	4 SubmittersRCV000042815 RCV000201169 RCV000760364
NM_000548.5(TSC2):c.4105C>T (p.Arg1369Trp)	SNV Germline	Chr16:2084327	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome Hereditary cancer-predisposing syndrome Condition: not provided Tuberous sclerosis 2 not specified TSC2-related disorder	Criteria Provided Conflicting Classifications	CA019949	rs_45517328	18 SubmittersRCV000042816 RCV000565844 RCV000726579 RCV001082851 RCV003488361 RCV004541222
NM_000548.5(TSC2):c.2743-1G>A	SNV Germline	Chr16:2076490	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA018023	rs_45517263	4 SubmittersRCV000042820 RCV000701173 RCV002433526 RCV005222728
NM_000548.5(TSC2):c.2743-1G>C	SNV Germline	Chr16:2076490	Pathogenic	Tuberous sclerosis syndrome Condition: not provided Tuberous sclerosis 2	Criteria Provided Multiple Submitters No Conflicts	CA018028	rs_45517263	3 SubmittersRCV000042821 RCV001569044 RCV002288540
NM_000548.5(TSC2):c.3140T>C (p.Val1047Ala)	SNV Germline	Chr16:2079284	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome not specified Hereditary cancer-predisposing syndrome Condition: not provided Tuberous sclerosis 2 TSC2-related disorder	Criteria Provided Conflicting Classifications	CA018645	rs_45517284	15 SubmittersRCV000042825 RCV000122221 RCV000163970 RCV000727358 RCV001086743 RCV004541223
NM_000548.5(TSC2):c.2546-1G>A	SNV Germline	Chr16:2075798	Pathogenic	Tuberous sclerosis syndrome Condition: not provided	Criteria Provided Single Submitter	CA017640	rs_45468292	2 SubmittersRCV000042829 RCV000523003
NM_000548.5(TSC2):c.2546-1G>C	SNV Germline	Chr16:2075798	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2	Criteria Provided Single Submitter	CA017646	rs_45468292	2 SubmittersRCV000042830 RCV000812597
NM_000548.5(TSC2):c.3509C>G (p.Ser1170Ter)	SNV Germline	Chr16:2080276	Pathogenic	Tuberous sclerosis syndrome	Criteria Provided Single Submitter	CA019240	rs_45517296	2 SubmittersRCV000042839
NM_000548.5(TSC2):c.2647C>T (p.Gln883Ter)	SNV Germline	Chr16:2076075	Pathogenic/Likely pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA017805	rs_45476100	6 SubmittersRCV000042841 RCV001252981 RCV002255124
NM_000548.5(TSC2):c.2380C>T (p.Gln794Ter)	SNV Germline	Chr16:2074224	Pathogenic	Tuberous sclerosis syndrome Condition: not provided	Criteria Provided Single Submitter	CA017333	rs_45517233	2 SubmittersRCV000042844 RCV002288541
NM_000548.5(TSC2):c.2666C>T (p.Ala889Val)	SNV Germline	Chr16:2076094	Pathogenic/Likely pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA017841	rs_137854155	5 SubmittersRCV000042847 RCV000201152 RCV002433527
NM_000548.5(TSC2):c.2423T>C (p.Leu808Ser)	SNV Germline	Chr16:2074267	Likely pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2	Criteria Provided Single Submitter	CA017395	rs_45489791	2 SubmittersRCV000042848 RCV001250499
NM_000548.5(TSC2):c.3265C>T (p.Gln1089Ter)	SNV Germline	Chr16:2079409	Pathogenic	Tuberous sclerosis syndrome Condition: not provided Tuberous sclerosis 2	Criteria Provided Multiple Submitters No Conflicts	CA018787	rs_45517288	3 SubmittersRCV000042850 RCV003231113 RCV003511987
NM_000548.5(TSC2):c.2690T>C (p.Phe897Ser)	SNV Germline	Chr16:2076118	Pathogenic	Tuberous sclerosis syndrome Condition: not provided	Criteria Provided Single Submitter	CA017895	rs_45517255	2 SubmittersRCV000042856 RCV000336828
NM_000548.5(TSC2):c.2153G>C (p.Arg718Pro)	SNV Germline	Chr16:2072296	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome Hereditary cancer-predisposing syndrome Tuberous sclerosis 2 Condition: not provided TSC2-related disorder not specified Lymphangiomyomatosis Isolated focal cortical dysplasia type II Tuberous sclerosis 2	Criteria Provided Conflicting Classifications	CA016844	rs_45517215	13 SubmittersRCV000042858 RCV000129683 RCV000227547 RCV001703935 RCV004734595 RCV004998140 RCV005394257
NM_000548.5(TSC2):c.2210T>C (p.Leu737Pro)	SNV Germline	Chr16:2072353	Likely pathogenic	Tuberous sclerosis syndrome Condition: not provided	Criteria Provided Single Submitter	CA016935	rs_45464093	2 SubmittersRCV000042862 RCV004998141
NM_000548.5(TSC2):c.1882C>G (p.Arg628Gly)	SNV Germline	Chr16:2071552	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Condition: not provided not specified Lymphangiomyomatosis Isolated focal cortical dysplasia type II Tuberous sclerosis 2	Criteria Provided Conflicting Classifications	CA016143	rs_45437797	8 SubmittersRCV000042864 RCV000707631 RCV001013512 RCV003151740 RCV005237465 RCV005016330
NM_000548.5(TSC2):c.1717-1G>A	SNV Germline	Chr16:2070455	Pathogenic/Likely pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2	Criteria Provided Multiple Submitters No Conflicts	CA015534	rs_45517192	3 SubmittersRCV000042880 RCV002266914
NM_000548.5(TSC2):c.1790A>G (p.His597Arg)	SNV Germline	Chr16:2070529	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2	Criteria Provided Multiple Submitters No Conflicts	CA015754	rs_137854322	3 SubmittersRCV000042891 RCV002513625
NM_000548.5(TSC2):c.2083C>T (p.Gln695Ter)	SNV Germline	Chr16:2071920	Pathogenic	Tuberous sclerosis syndrome Condition: not provided Tuberous sclerosis 2	Criteria Provided Multiple Submitters No Conflicts	CA016621	rs_45517209	3 SubmittersRCV000042894 RCV002253206 RCV001852892
NM_000548.5(TSC2):c.1444-2A>G	SNV Germline	Chr16:2064270	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA014879	rs_45517174	4 SubmittersRCV000042895 RCV000201016 RCV000498319
NM_000548.5(TSC2):c.1479C>T (p.Leu493=)	SNV Germline	Chr16:2064307	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA014952	rs_137854145	8 SubmittersRCV000042897 RCV000456547 RCV001011795 RCV001575129
NM_000548.5(TSC2):c.1492G>T (p.Glu498Ter)	SNV Germline	Chr16:2064320	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2	Criteria Provided Single Submitter	CA014978	rs_45517178	2 SubmittersRCV000042899 RCV002266915
NM_000548.5(TSC2):c.1831C>T (p.Arg611Trp)	SNV Germline/somatic	Chr16:2070570	Pathogenic	Tuberous sclerosis syndrome Condition: not provided Hereditary cancer-predisposing syndrome Tuberous sclerosis 2 Lymphangiomyomatosis Isolated focal cortical dysplasia type II Tuberous sclerosis 2 Subependymal giant-cell astrocytoma	Criteria Provided Multiple Submitters No Conflicts	CA015914	rs_45469298	12 SubmittersRCV000042905 RCV000189989 RCV000491813 RCV000539587 RCV000768117 RCV006253752
NM_000548.5(TSC2):c.1599+1G>A	SNV Germline	Chr16:2064428	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA015195	rs_45517182	4 SubmittersRCV000042908 RCV000201163 RCV000490888 RCV002472947
NM_000548.5(TSC2):c.1599+2T>C	SNV Germline	Chr16:2064429	Pathogenic	Tuberous sclerosis syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Single Submitter	CA015210	rs_45517183	2 SubmittersRCV000042909 RCV000491391
NM_000548.5(TSC2):c.1348G>T (p.Glu450Ter)	SNV Germline	Chr16:2062587	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2	Criteria Provided Single Submitter	CA014477	rs_45491095	2 SubmittersRCV000042913 RCV001388103
NM_000548.5(TSC2):c.1060C>T (p.Gln354Ter)	SNV Germline	Chr16:2060754	Pathogenic	Tuberous sclerosis syndrome Condition: not provided Tuberous sclerosis 2	Criteria Provided Multiple Submitters No Conflicts	CA013658	rs_45469896	4 SubmittersRCV000042918 RCV000713913 RCV001382877
NM_000548.5(TSC2):c.1839+6G>A	SNV Germline	Chr16:2070584	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome Tuberous sclerosis 2 not specified Condition: not provided Hereditary cancer-predisposing syndrome Intellectual disability	Criteria Provided Conflicting Classifications	CA015966	rs_45517204	20 SubmittersRCV000042920 RCV000233074 RCV000349195 RCV000513698 RCV002255268 RCV005625247
NM_000548.5(TSC2):c.138+1G>A	SNV Germline	Chr16:2048754	Likely pathogenic	Tuberous sclerosis syndrome	Criteria Provided Single Submitter	CA014645	rs_45517091	2 SubmittersRCV000042923
NM_000548.5(TSC2):c.1142G>A (p.Arg381Lys)	SNV Germline	Chr16:2061893	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome Tuberous sclerosis 2	Criteria Provided Conflicting Classifications	CA013922	rs_45465395	3 SubmittersRCV000042935 RCV002513627
NM_000548.5(TSC2):c.1210C>T (p.Gln404Ter)	SNV Germline	Chr16:2061961	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2 TSC2-related disorder Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA014047	rs_45457701	4 SubmittersRCV000042938 RCV001382878 RCV004528236 RCV005251050
NM_000548.5(TSC2):c.2295C>T (p.Ala765=)	SNV Germline	Chr16:2072923	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome Condition: not provided Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome not specified	Criteria Provided Conflicting Classifications	CA017160	rs_45509500	10 SubmittersRCV000042939 RCV000731964 RCV001081090 RCV002256027 RCV002281730
NM_000548.5(TSC2):c.2328C>A (p.Tyr776Ter)	SNV Germline	Chr16:2072956	Pathogenic	Tuberous sclerosis syndrome Condition: not provided Tuberous sclerosis 2 Tuberous sclerosis 2 Lymphangiomyomatosis Isolated focal cortical dysplasia type II	Criteria Provided Multiple Submitters No Conflicts	CA017191	rs_45517225	5 SubmittersRCV000042941 RCV000407429 RCV001194681 RCV005016331
NM_000548.5(TSC2):c.1229T>G (p.Leu410Arg)	SNV Germline	Chr16:2061980	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome Tuberous sclerosis 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA014118	rs_137854298	6 SubmittersRCV000042942 RCV000201010 RCV002468995
NM_000548.5(TSC2):c.1257+2T>C	SNV Germline	Chr16:2062010	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2	Criteria Provided Single Submitter	CA014221	rs_45509697	3 SubmittersRCV000042945 RCV000722173
NM_000548.5(TSC2):c.1837C>T (p.Gln613Ter)	SNV Germline	Chr16:2070576	Pathogenic	Tuberous sclerosis syndrome Lymphangiomyomatosis Condition: not provided	Criteria Provided Single Submitter	CA015927	rs_45480292	2 SubmittersRCV000042947 RCV000055587 RCV005627340
NM_000548.5(TSC2):c.1599G>A (p.Lys533=)	SNV Germline	Chr16:2064427	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome Tuberous sclerosis 2 Lymphangiomyomatosis Tuberous sclerosis 2 Isolated focal cortical dysplasia type II	Criteria Provided Conflicting Classifications	CA015223	rs_1555502589	3 SubmittersRCV000042949 RCV001056287 RCV006257261
NM_000548.5(TSC2):c.1361+1G>A	SNV Germline	Chr16:2062601	Pathogenic/Likely pathogenic	Tuberous sclerosis syndrome Condition: not provided Tuberous sclerosis 2	Criteria Provided Multiple Submitters No Conflicts	CA014515	rs_45517164	3 SubmittersRCV000042956 RCV001725958 RCV005089393
NM_000548.5(TSC2):c.2355+1G>A	SNV Germline	Chr16:2072984	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2	Criteria Provided Single Submitter	CA017233	rs_45517227	2 SubmittersRCV000042975 RCV000800581
NM_000548.5(TSC2):c.2355+2T>C	SNV Germline	Chr16:2072985	Pathogenic/Likely pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA017242	rs_45517228	3 SubmittersRCV000042977 RCV000800582 RCV006287155
NM_000548.5(TSC2):c.2853A>T (p.Arg951Ser)	SNV Germline	Chr16:2077613	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA018279	rs_45517273	3 SubmittersRCV000042983 RCV001208145 RCV002433528
NM_000548.5(TSC2):c.1841C>A (p.Ala614Asp)	SNV Germline	Chr16:2071511	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA016019	rs_45454398	3 SubmittersRCV000042985 RCV002514169 RCV005625248
NM_000548.5(TSC2):c.2410T>C (p.Cys804Arg)	SNV Germline	Chr16:2074254	Pathogenic/Likely pathogenic	Tuberous sclerosis syndrome Condition: not provided Tuberous sclerosis 2	Criteria Provided Multiple Submitters No Conflicts	CA017384	rs_137853995	5 SubmittersRCV000042990 RCV000189999 RCV000201105
NM_000548.5(TSC2):c.2098-1G>A	SNV Germline	Chr16:2072240	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2 Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA016712	rs_45517212	5 SubmittersRCV000042995 RCV000229589 RCV000482722 RCV005286019
NM_000548.5(TSC2):c.2098-2A>G	SNV Germline	Chr16:2072239	Pathogenic	Tuberous sclerosis syndrome Hereditary cancer-predisposing syndrome Tuberous sclerosis 2	Criteria Provided Multiple Submitters No Conflicts	CA016720	rs_45501596	4 SubmittersRCV000042996 RCV002415491 RCV003155053
NM_000548.5(TSC2):c.3099C>A (p.Tyr1033Ter)	SNV Germline	Chr16:2079164	Pathogenic	Tuberous sclerosis syndrome Condition: not provided Tuberous sclerosis 2	Criteria Provided Multiple Submitters No Conflicts	CA018520	rs_45464800	4 SubmittersRCV000042999 RCV000760362 RCV000806140
NM_000548.5(TSC2):c.3099C>G (p.Tyr1033Ter)	SNV Germline	Chr16:2079164	Pathogenic	Tuberous sclerosis syndrome TSC2-related disorder Condition: not provided Tuberous sclerosis 2	Criteria Provided Multiple Submitters No Conflicts	CA018525	rs_45464800	4 SubmittersRCV000043000 RCV004734598 RCV002285261 RCV002266916
NM_000548.5(TSC2):c.2108G>A (p.Trp703Ter)	SNV Germline	Chr16:2072251	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2 Lymphangiomyomatosis Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA016778	rs_45517213	7 SubmittersRCV000043001 RCV000201180 RCV004798760 RCV004808563 RCV005251051
NM_000548.5(TSC2):c.2109G>A (p.Trp703Ter)	SNV Germline	Chr16:2072252	Pathogenic	Tuberous sclerosis syndrome Lymphangiomyomatosis Tuberous sclerosis syndrome Tuberous sclerosis 2	Criteria Provided Single Submitter	CA016786	rs_45462192	2 SubmittersRCV000043002 RCV000055536 RCV005089394
NM_000548.5(TSC2):c.268C>T (p.Gln90Ter)	SNV Germline	Chr16:2053384	Pathogenic	Tuberous sclerosis syndrome Condition: not provided Hereditary cancer-predisposing syndrome Tuberous sclerosis 2	Criteria Provided Multiple Submitters No Conflicts	CA017893	rs_45517099	8 SubmittersRCV000043003 RCV000381969 RCV000491603 RCV000707342
NM_000548.5(TSC2):c.1443+4C>T	SNV Germline	Chr16:2063057	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome not specified Hereditary cancer-predisposing syndrome Tuberous sclerosis 2 Condition: not provided Dystonia, early-onset, and/or spastic paraplegia	Criteria Provided Conflicting Classifications	CA014832	rs_45517172	14 SubmittersRCV000043007 RCV000189887 RCV000565280 RCV000989418 RCV002262603 RCV005625249
NM_000548.5(TSC2):c.1443G>A (p.Glu481=)	SNV Germline	Chr16:2063053	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2	Criteria Provided Single Submitter	CA014840	rs_137854876	2 SubmittersRCV000043008 RCV003511991
NM_000548.5(TSC2):c.2742+1G>A	SNV Germline	Chr16:2076171	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2	Criteria Provided Single Submitter	CA017990	rs_45517262	2 SubmittersRCV000043011 RCV002513628
NM_000548.5(TSC2):c.3132-1G>A	SNV Germline	Chr16:2079275	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2	Criteria Provided Single Submitter	CA018616	rs_45443096	2 SubmittersRCV000043014 RCV001379864
NM_000548.5(TSC2):c.2477T>C (p.Leu826Pro)	SNV Germline	Chr16:2074321	Pathogenic/Likely pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA017496	rs_45517239	4 SubmittersRCV000043016 RCV000473440 RCV004566811
NM_000548.5(TSC2):c.3476G>A (p.Arg1159Gln)	SNV Germline	Chr16:2080243	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome not specified Hereditary cancer-predisposing syndrome Condition: not provided Tuberous sclerosis 2 Lymphangiomyomatosis Isolated focal cortical dysplasia type II Tuberous sclerosis 2	Criteria Provided Conflicting Classifications	CA019197	rs_45473098	9 SubmittersRCV000043020 RCV000177445 RCV000565521 RCV000724630 RCV001086436 RCV005394260
NM_000548.5(TSC2):c.1117C>T (p.Gln373Ter)	SNV Germline	Chr16:2060811	Pathogenic	Tuberous sclerosis syndrome Condition: not provided	Criteria Provided Single Submitter	CA013824	rs_45458694	2 SubmittersRCV000043024 RCV004783734
NM_000548.5(TSC2):c.3598C>T (p.Arg1200Trp)	SNV Germline	Chr16:2080365	Pathogenic	Tuberous sclerosis syndrome Condition: not provided Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Isolated focal cortical dysplasia type II Tuberous sclerosis 2 Lymphangiomyomatosis TSC2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA019313	rs_45438205	23 SubmittersRCV000043035 RCV000190021 RCV000190880 RCV002453340 RCV002490595 RCV004537174
NM_000548.5(TSC2):c.1865G>A (p.Arg622Gln)	SNV Germline	Chr16:2071535	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Condition: not provided TSC2-related disorder Gastric cancer	Criteria Provided Conflicting Classifications	CA016094	rs_45517206	11 SubmittersRCV000043039 RCV000233524 RCV001013448 RCV001703938 RCV004734599 RCV005890314
NM_000548.5(TSC2):c.1865G>C (p.Arg622Pro)	SNV Germline	Chr16:2071535	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome Condition: not provided Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA016103	rs_45517206	5 SubmittersRCV000043040 RCV000713916 RCV001379863 RCV005761954
NM_000548.5(TSC2):c.4005+1G>T	SNV Germline	Chr16:2083817	Pathogenic/Likely pathogenic	Tuberous sclerosis syndrome Condition: not provided Tuberous sclerosis 2	Criteria Provided Multiple Submitters No Conflicts	CA019809	rs_45517324	5 SubmittersRCV000043043 RCV001171696 RCV001377312
NM_000548.5(TSC2):c.2546-2A>G	SNV Germline	Chr16:2075797	Pathogenic	Tuberous sclerosis syndrome Condition: not provided Tuberous sclerosis 2	Criteria Provided Multiple Submitters No Conflicts	CA017648	rs_45517246	4 SubmittersRCV000043045 RCV000176373 RCV001380264
NM_000548.5(TSC2):c.2785G>T (p.Glu929Ter)	SNV Germline	Chr16:2076533	Pathogenic	Tuberous sclerosis syndrome Condition: not provided	Criteria Provided Single Submitter	CA018189	rs_45517268	2 SubmittersRCV000043047 RCV005434621
NM_000548.5(TSC2):c.4570-66G>A	SNV Germline	Chr16:2085164	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome Condition: not provided Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA020695	rs_45496499	4 SubmittersRCV000043048 RCV000983809 RCV002054853 RCV002257385
NM_000548.5(TSC2):c.4672G>A (p.Glu1558Lys)	SNV Germline	Chr16:2086202	Pathogenic/Likely pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2 Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA020888	rs_45517360	10 SubmittersRCV000043059 RCV001054560 RCV001200217 RCV003162358
NM_000548.5(TSC2):c.3352C>T (p.Gln1118Ter)	SNV Germline	Chr16:2079624	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA018941	rs_45496291	4 SubmittersRCV000043062 RCV001280880 RCV005434622
NM_000548.5(TSC2):c.4129C>T (p.Gln1377Ter)	SNV Germline	Chr16:2084351	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2 Isolated focal cortical dysplasia type II Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA019981	rs_45517329	6 SubmittersRCV000043066 RCV001390822 RCV003460557 RCV004812298
NM_000548.5(TSC2):c.4174C>T (p.Gln1392Ter)	SNV Germline	Chr16:2084396	Pathogenic	Tuberous sclerosis syndrome Condition: not provided Tuberous sclerosis 2 See cases	Criteria Provided Multiple Submitters No Conflicts	CA020033	rs_45517330	10 SubmittersRCV000043072 RCV000760365 RCV000660347 RCV004584339
NM_000548.5(TSC2):c.4219G>C (p.Val1407Leu)	SNV Germline	Chr16:2084441	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA020086	rs_45517332	3 SubmittersRCV000043078 RCV001852896 RCV002326761
NM_000548.5(TSC2):c.2221-2A>G	SNV Germline	Chr16:2072847	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2	Criteria Provided Single Submitter	CA016997	rs_45502196	2 SubmittersRCV000043081 RCV000694650
NM_000548.5(TSC2):c.496C>T (p.Gln166Ter)	SNV Germline	Chr16:2055416	Pathogenic	Tuberous sclerosis syndrome Condition: not provided Tuberous sclerosis 2	Criteria Provided Multiple Submitters No Conflicts	CA021413	rs_45517111	4 SubmittersRCV000043085 RCV000351808 RCV002513629
NM_000548.5(TSC2):c.4779C>G (p.Tyr1593Ter)	SNV Germline	Chr16:2086309	Pathogenic	Tuberous sclerosis syndrome TSC2-related disorder	No Assertion Criteria Provided	CA020994	rs_45517368	2 SubmittersRCV000043086 RCV004537176
NM_000548.5(TSC2):c.4255C>T (p.Gln1419Ter)	SNV Germline	Chr16:2084477	Pathogenic	Tuberous sclerosis syndrome Condition: not provided Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA020121	rs_45437193	5 SubmittersRCV000043087 RCV000760367 RCV001852897 RCV002326762
NM_000548.5(TSC2):c.481+5G>T	SNV Germline	Chr16:2054445	Pathogenic	Tuberous sclerosis syndrome Condition: not provided	Criteria Provided Single Submitter	CA021024	rs_137854135	2 SubmittersRCV000043091 RCV001091437
NM_000548.5(TSC2):c.482-1G>C	SNV Germline	Chr16:2055401	Likely pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2	Criteria Provided Single Submitter	CA021029	rs_137854306	2 SubmittersRCV000043092 RCV002514170
NM_000548.5(TSC2):c.3395C>A (p.Ser1132Ter)	SNV Germline	Chr16:2079667	Pathogenic	Tuberous sclerosis syndrome Condition: not provided	Criteria Provided Single Submitter	CA019071	rs_137854074	2 SubmittersRCV000043094 RCV000414024
NM_000548.5(TSC2):c.4355C>T (p.Ser1452Leu)	SNV Germline	Chr16:2084577	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome Condition: not provided Hereditary cancer-predisposing syndrome Tuberous sclerosis 2	Criteria Provided Conflicting Classifications	CA020322	rs_45517339	6 SubmittersRCV000043095 RCV000190032 RCV001022345 RCV001088217
NM_000548.5(TSC2):c.4360A>G (p.Ser1454Gly)	SNV Germline	Chr16:2084582	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA020332	rs_137854366	4 SubmittersRCV000043096 RCV001050539 RCV001022358
NM_000548.5(TSC2):c.5227C>G (p.Arg1743Gly)	SNV Germline	Chr16:2088293	Likely pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2	Criteria Provided Single Submitter	CA022207	rs_45517412	2 SubmittersRCV000043100 RCV001249601
NM_000548.5(TSC2):c.3816G>A (p.Val1272=)	SNV Germline	Chr16:2082437	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA019584	rs_45517314	8 SubmittersRCV000043101 RCV000540094 RCV001021220 RCV001249117
NM_000548.5(TSC2):c.4276G>T (p.Glu1426Ter)	SNV Germline	Chr16:2084498	Pathogenic	Tuberous sclerosis syndrome Condition: not provided	Criteria Provided Single Submitter	CA020176	rs_45449094	2 SubmittersRCV000043102 RCV006456648
NM_000548.5(TSC2):c.4830G>A (p.Trp1610Ter)	SNV Germline	Chr16:2086360	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2	Criteria Provided Single Submitter	CA021078	rs_45517372	2 SubmittersRCV000043107 RCV001047663
NM_000548.5(TSC2):c.2824G>T (p.Glu942Ter)	SNV Germline	Chr16:2076572	Pathogenic	Tuberous sclerosis syndrome not specified Tuberous sclerosis 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA018233	rs_45517270	6 SubmittersRCV000043109 RCV000506994 RCV001040727 RCV004799760
NM_000548.5(TSC2):c.2639+10C>T	SNV Germline	Chr16:2075902	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome Condition: not provided not specified Tuberous sclerosis 2	Criteria Provided Conflicting Classifications	CA017749	rs_137854378	9 SubmittersRCV000043110 RCV000456709 RCV000603883 RCV001080378
NM_000548.5(TSC2):c.2639+1G>C	SNV Germline	Chr16:2075893	Pathogenic	Tuberous sclerosis 2 Tuberous sclerosis syndrome	Criteria Provided Single Submitter	CA017760	rs_45517252	2 SubmittersRCV000201066 RCV000043111
NM_000548.5(TSC2):c.538C>G (p.Leu180Val)	SNV Germline	Chr16:2055458	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome not specified Condition: not provided Seizure Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA022465	rs_45485591	14 SubmittersRCV000043112 RCV000419036 RCV000729019 RCV000781951 RCV000989415 RCV001024017
NM_000548.5(TSC2):c.5161-1G>T	SNV Germline	Chr16:2088226	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2	Criteria Provided Single Submitter	CA022018	rs_45517404	2 SubmittersRCV000043114 RCV003511993
NM_000548.5(TSC2):c.4620C>G (p.Tyr1540Ter)	SNV Germline	Chr16:2085280	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2 TSC2-related disorder Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA020771	rs_45455897	4 SubmittersRCV000043115 RCV001215383 RCV004724774 RCV006434421
NM_000548.5(TSC2):c.4990-6G>A	SNV Germline	Chr16:2087857	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome Tuberous sclerosis 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA021478	rs_137853987	3 SubmittersRCV000043117 RCV000644345 RCV004998142
NM_000548.5(TSC2):c.5034C>G (p.Tyr1678Ter)	SNV Germline	Chr16:2087907	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA021563	rs_45467993	3 SubmittersRCV000043118 RCV000795199 RCV005420523
NM_000548.5(TSC2):c.3883+5C>T	SNV Germline	Chr16:2082509	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome TSC2-related disorder	Criteria Provided Conflicting Classifications	CA019611	rs_45448994	7 SubmittersRCV000043121 RCV000477446 RCV000491182 RCV004537177
NM_000548.5(TSC2):c.4569+12C>T	SNV Germline	Chr16:2085038	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome Condition: not provided not specified Tuberous sclerosis 2	Criteria Provided Conflicting Classifications	CA020659	rs_45517350	5 SubmittersRCV000043122 RCV000514983 RCV000608845 RCV002054855
NM_000548.5(TSC2):c.4849+1G>A	SNV Germline	Chr16:2086380	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA021094	rs_45517375	3 SubmittersRCV000043130 RCV000644240 RCV002336161
NM_000548.5(TSC2):c.4661A>C (p.Gln1554Pro)	SNV Germline	Chr16:2085321	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome Tuberous sclerosis 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA020835	rs_45473296	3 SubmittersRCV000043132 RCV003511994 RCV005089395
NM_000548.5(TSC2):c.5185C>T (p.Arg1729Cys)	SNV Germline	Chr16:2088251	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Condition: not provided not specified TSC2-related disorder	Criteria Provided Conflicting Classifications	CA022096	rs_45517409	14 SubmittersRCV000043133 RCV000459372 RCV000567321 RCV001697038 RCV004703197 RCV004541227
NM_000548.5(TSC2):c.5069-1G>C	SNV Germline	Chr16:2088047	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2	Criteria Provided Single Submitter	CA021646	rs_45517389	2 SubmittersRCV000043134 RCV001852899
NM_000548.5(TSC2):c.3398-1G>A	SNV Germline	Chr16:2080164	Pathogenic	Tuberous sclerosis syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Single Submitter	CA019095	rs_45517293	2 SubmittersRCV000043137 RCV002453342
NM_000548.5(TSC2):c.3080T>C (p.Leu1027Pro)	SNV Germline	Chr16:2079145	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2	Criteria Provided Single Submitter	CA018468	rs_45438192	2 SubmittersRCV000043140 RCV001216513
NM_000548.5(TSC2):c.599+2T>G	SNV Germline	Chr16:2055521	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2	Criteria Provided Single Submitter	CA022631	rs_45484992	2 SubmittersRCV000043142 RCV001037420
NM_000548.5(TSC2):c.599+5G>A	SNV Germline	Chr16:2055524	Pathogenic/Likely pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA022643	rs_45463996	3 SubmittersRCV000043143 RCV000792508 RCV006274985
NM_000548.5(TSC2):c.4906G>A (p.Asp1636Asn)	SNV Germline	Chr16:2086788	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome not specified Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA021203	rs_45482398	9 SubmittersRCV000043146 RCV000189937 RCV000644309 RCV001023245
NM_000548.5(TSC2):c.603G>C (p.Met201Ile)	SNV Germline	Chr16:2056199	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA022680	rs_45506197	6 SubmittersRCV000043148 RCV000691597 RCV001024832
NM_000548.5(TSC2):c.618C>A (p.Cys206Ter)	SNV Germline	Chr16:2056214	Pathogenic	Tuberous sclerosis syndrome	Criteria Provided Single Submitter	CA022690	rs_45498496	2 SubmittersRCV000043149
NM_000548.5(TSC2):c.681C>T (p.Cys227=)	SNV Germline	Chr16:2056676	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome not specified Hereditary cancer-predisposing syndrome Condition: not provided Tuberous sclerosis 2 TSC2-related disorder	Criteria Provided Conflicting Classifications	CA022794	rs_45443205	12 SubmittersRCV000043158 RCV000427770 RCV000571297 RCV000727275 RCV001082427 RCV004537178
NM_000548.5(TSC2):c.730T>C (p.Cys244Arg)	SNV Germline	Chr16:2056725	Pathogenic	Tuberous sclerosis syndrome Condition: not provided	Criteria Provided Single Submitter	CA022889	rs_137854101	2 SubmittersRCV000043163 RCV000478154
NM_000548.5(TSC2):c.429C>G (p.Phe143Leu)	SNV Germline	Chr16:2054388	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome not specified Tuberous sclerosis 2 See cases Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA020223	rs_137854406	8 SubmittersRCV000043165 RCV000431983 RCV000476314 RCV002287356 RCV002326763
NM_000548.5(TSC2):c.600-1G>A	SNV Germline	Chr16:2056195	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2	Criteria Provided Single Submitter	CA022665	rs_45517117	2 SubmittersRCV000043169 RCV000685234
NM_000548.5(TSC2):c.600-2A>G	SNV Germline	Chr16:2056194	Likely pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2	Criteria Provided Single Submitter	CA022669	rs_45468592	2 SubmittersRCV000043170 RCV002283449
NM_000548.5(TSC2):c.4927A>C (p.Asn1643His)	SNV Germline	Chr16:2086809	Pathogenic	Tuberous sclerosis syndrome Condition: not provided	Criteria Provided Single Submitter	CA021298	rs_45517379	2 SubmittersRCV000043177 RCV000478359
NM_000548.5(TSC2):c.5116C>T (p.Arg1706Cys)	SNV Germline	Chr16:2088095	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome not specified Condition: not provided Hereditary cancer-predisposing syndrome Tuberous sclerosis 2 See cases	Criteria Provided Conflicting Classifications	CA021761	rs_45517391	16 SubmittersRCV000043179 RCV000189943 RCV000512881 RCV000571102 RCV001082733 RCV002222154
NM_000548.5(TSC2):c.759C>A (p.Cys253Ter)	SNV Germline	Chr16:2056754	Pathogenic	Tuberous sclerosis syndrome Condition: not provided Tuberous sclerosis 2	Criteria Provided Multiple Submitters No Conflicts	CA022915	rs_45517125	3 SubmittersRCV000043181 RCV003311672 RCV005089397
NM_000548.5(TSC2):c.774+1G>A	SNV Germline	Chr16:2056770	Pathogenic	Tuberous sclerosis syndrome Condition: not provided Tuberous sclerosis 2	Criteria Provided Multiple Submitters No Conflicts	CA022937	rs_45517128	5 SubmittersRCV000043186 RCV000423250 RCV001037395
NM_000548.5(TSC2):c.791T>C (p.Leu264Pro)	SNV Germline	Chr16:2057121	Likely pathogenic	Tuberous sclerosis syndrome Condition: not provided	Criteria Provided Single Submitter	CA022990	rs_45517131	2 SubmittersRCV000043188 RCV000523170
NM_000548.5(TSC2):c.848+1G>A	SNV Germline	Chr16:2057179	Pathogenic	Tuberous sclerosis 2 Condition: not provided Tuberous sclerosis syndrome	Criteria Provided Multiple Submitters No Conflicts	CA023022	rs_45466296	4 SubmittersRCV000201109 RCV000190083 RCV000043189
NM_000548.5(TSC2):c.848+281C>T	SNV Germline	Chr16:2057459	Pathogenic/Likely pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2 Lymphangiomyomatosis Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA023025	rs_45517132	9 SubmittersRCV000043190 RCV000457139 RCV001197516 RCV002243690 RCV002444498
NM_000548.5(TSC2):c.4432G>C (p.Asp1478His)	SNV Germline	Chr16:2084654	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome Condition: not provided Hereditary cancer-predisposing syndrome Tuberous sclerosis 2	Criteria Provided Conflicting Classifications	CA020460	rs_45517343	7 SubmittersRCV000043192 RCV000474980 RCV001022469 RCV001086757
NM_000548.5(TSC2):c.4439T>A (p.Leu1480Ter)	SNV Germline/somatic	Chr16:2084661	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2 Neoplasm	Criteria Provided Single Submitter	CA020472	rs_45446594	3 SubmittersRCV000043193 RCV001852900 RCV005229859
NM_000548.5(TSC2):c.5126C>T (p.Pro1709Leu)	SNV Germline	Chr16:2088105	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA021795	rs_45517393	4 SubmittersRCV000043196 RCV000693889 RCV004700315
NM_000548.5(TSC2):c.5138G>A (p.Arg1713His)	SNV Germline	Chr16:2088117	Pathogenic/Likely pathogenic	Tuberous sclerosis syndrome Hereditary cancer-predisposing syndrome Condition: not provided Tuberous sclerosis 2 Tuberous sclerosis 2 Isolated focal cortical dysplasia type II Lymphangiomyomatosis	Criteria Provided Multiple Submitters No Conflicts	CA021840	rs_45517395	13 SubmittersRCV000043197 RCV000129852 RCV000254730 RCV000459221 RCV000763367
NM_000548.5(TSC2):c.5138G>C (p.Arg1713Pro)	SNV Germline	Chr16:2088117	Likely pathogenic	Tuberous sclerosis 2 Tuberous sclerosis syndrome	Criteria Provided Single Submitter	CA021846	rs_45517395	2 SubmittersRCV000201077 RCV000043198
NM_000548.5(TSC2):c.5161-1G>A	SNV Germline	Chr16:2088226	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2 Lymphangiomyomatosis Tuberous sclerosis 2 Isolated focal cortical dysplasia type II	Criteria Provided Multiple Submitters No Conflicts	CA022008	rs_45517404	4 SubmittersRCV000043210 RCV000472098 RCV001027854
NM_000548.5(TSC2):c.5161-1G>C	SNV Germline	Chr16:2088226	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA022014	rs_45517404	6 SubmittersRCV000043211 RCV001281110 RCV005621865
NM_000548.5(TSC2):c.972C>A (p.Tyr324Ter)	SNV Germline	Chr16:2058870	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2	Criteria Provided Single Submitter	CA023189	rs_45517143	2 SubmittersRCV000043213 RCV000462556
NM_000548.5(TSC2):c.975+1G>A	SNV Germline	Chr16:2058874	Pathogenic/Likely pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2	Criteria Provided Multiple Submitters No Conflicts	CA023203	rs_137854200	3 SubmittersRCV000043215 RCV003128238
NM_000548.5(TSC2):c.5167T>C (p.Ser1723Pro)	SNV Germline	Chr16:2088233	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome Tuberous sclerosis 2 not specified	Criteria Provided Conflicting Classifications	CA022058	rs_45517408	3 SubmittersRCV000043216 RCV001366989 RCV002247426
NM_000548.5(TSC2):c.5170C>T (p.Gln1724Ter)	SNV Germline	Chr16:2088236	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA022073	rs_45472701	4 SubmittersRCV000043217 RCV000201008 RCV002336162
NM_000548.5(TSC2):c.4735G>A (p.Gly1579Ser)	SNV Germline	Chr16:2086265	Likely pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2	Criteria Provided Single Submitter	CA020963	rs_45503995	3 SubmittersRCV000043223 RCV002298454
NM_000548.5(TSC2):c.5228G>A (p.Arg1743Gln)	SNV Germline	Chr16:2088294	Pathogenic/Likely pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2 Condition: not provided Hereditary cancer-predisposing syndrome TSC2-related disorder Lymphangiomyomatosis Tuberous sclerosis 2 Isolated focal cortical dysplasia type II	Criteria Provided Multiple Submitters No Conflicts	CA022218	rs_45507199	19 SubmittersRCV000043227 RCV000201149 RCV000190035 RCV002336163 RCV004734600 RCV005394264
NM_000548.5(TSC2):c.5228G>C (p.Arg1743Pro)	SNV Germline	Chr16:2088294	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2	Criteria Provided Single Submitter	CA022224	rs_45507199	2 SubmittersRCV000043228 RCV003511996
NM_000548.5(TSC2):c.5231T>C (p.Leu1744Pro)	SNV Germline	Chr16:2088297	Likely pathogenic	Tuberous sclerosis syndrome Condition: not provided	Criteria Provided Single Submitter	CA022245	rs_45517413	2 SubmittersRCV000043229 RCV003311673
NM_000548.5(TSC2):c.4849+12C>T	SNV Germline	Chr16:2086391	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome Condition: not provided Hereditary cancer-predisposing syndrome Tuberous sclerosis 2 Tuberous sclerosis syndrome Lung lymphangioleiomyomatosis not specified	Criteria Provided Conflicting Classifications	CA021088	rs_45517373	7 SubmittersRCV000043230 RCV001650883 RCV002256028 RCV002054857 RCV005357283 RCV005430951
NM_000548.5(TSC2):c.4850-1G>A	SNV Germline	Chr16:2086731	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2	Criteria Provided Single Submitter	CA021116	rs_45517377	2 SubmittersRCV000043232 RCV002514172
NM_000548.5(TSC2):c.4887C>T (p.Asp1629=)	SNV Germline	Chr16:2086769	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome not specified Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome TSC2-related disorder	Criteria Provided Conflicting Classifications	CA021191	rs_137854152	11 SubmittersRCV000043239 RCV000431036 RCV000464259 RCV000564650 RCV004541228
NM_000548.5(TSC2):c.4925G>A (p.Gly1642Asp)	SNV Germline	Chr16:2086807	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA021290	rs_137854343	4 SubmittersRCV000043245 RCV001238557 RCV002345329 RCV004998143
NM_000548.5(TSC2):c.775-1G>A	SNV Germline	Chr16:2057104	Likely pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2	Criteria Provided Single Submitter	CA022965	rs_45454192	2 SubmittersRCV000043251 RCV001237072
NM_000548.5(TSC2):c.4397C>A (p.Ser1466Ter)	SNV Germline	Chr16:2084619	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2	Criteria Provided Single Submitter	CA020377	rs_45517341	2 SubmittersRCV000043254 RCV002513631
NM_000548.5(TSC2):c.4989+1G>T	SNV Germline	Chr16:2086872	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2	Criteria Provided Single Submitter	CA021467	rs_45517386	2 SubmittersRCV000043259 RCV005089398
NM_000548.5(TSC2):c.3718C>T (p.Arg1240Cys)	SNV Germline	Chr16:2081702	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA019506	rs_137854353	3 SubmittersRCV000043283 RCV000537246 RCV003162359
NM_000548.5(TSC2):c.5068+1G>A	SNV Germline	Chr16:2087942	Pathogenic/Likely pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2 Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA021612	rs_45445199	7 SubmittersRCV000043292 RCV001222160 RCV001795037 RCV005502754
NM_000548.5(TSC2):c.4662+1G>A	SNV Germline	Chr16:2085323	Pathogenic	Tuberous sclerosis syndrome Severe intellectual disability Infantile spasms Lymphangiomyomatosis Tuberous sclerosis 2	Criteria Provided Multiple Submitters No Conflicts	CA020846	rs_45514095	4 SubmittersRCV000043297 RCV000415345 RCV001198320 RCV003511998
NM_000548.5(TSC2):c.395C>G (p.Ser132Cys)	SNV Germline	Chr16:2054354	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome not specified Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA019748	rs_137854391	6 SubmittersRCV000043300 RCV000421754 RCV000464621 RCV002354225
NM_000548.5(TSC2):c.577G>T (p.Glu193Ter)	SNV Germline	Chr16:2055497	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA022584	rs_45517112	4 SubmittersRCV000043305 RCV003485532 RCV005089399
NM_000548.5(TSC2):c.3132-2A>C	SNV Germline	Chr16:2079274	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2	Criteria Provided Single Submitter	CA018628	rs_45517282	2 SubmittersRCV000043314 RCV002513632
NM_000548.5(TSC2):c.4685T>C (p.Leu1562Pro)	SNV Germline	Chr16:2086215	Likely pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2 Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA020902	rs_45517362	4 SubmittersRCV000043318 RCV000989438 RCV000713940 RCV002336165
NM_000548.5(TSC2):c.4689C>T (p.Ser1563=)	SNV Germline	Chr16:2086219	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA020905	rs_45517363	6 SubmittersRCV000043319 RCV001503285 RCV003298087 RCV005241337
NM_000548.5(TSC2):c.4700G>A (p.Gly1567Asp)	SNV Germline	Chr16:2086230	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome Hereditary cancer-predisposing syndrome Tuberous sclerosis 2	Criteria Provided Conflicting Classifications	CA020917	rs_45517364	3 SubmittersRCV000043320 RCV002336166 RCV006253753
NM_000548.5(TSC2):c.3254C>A (p.Ser1085Ter)	SNV Germline	Chr16:2079398	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2	Criteria Provided Single Submitter	CA018749	rs_45517287	3 SubmittersRCV000043321 RCV003511999
NM_000548.5(TSC2):c.3284+1G>A	SNV Germline	Chr16:2079429	Pathogenic/Likely pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA018811	rs_45517289	6 SubmittersRCV000043323 RCV000690660 RCV000728085
NM_000548.5(TSC2):c.3284G>A (p.Ser1095Asn)	SNV Germline	Chr16:2079428	Pathogenic/Likely pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA018827	rs_1555510754	6 SubmittersRCV000043324 RCV001042713 RCV002321537 RCV003313034
NM_000548.5(TSC2):c.3355C>T (p.Gln1119Ter)	SNV Germline	Chr16:2079627	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2	Criteria Provided Single Submitter	CA018947	rs_45517292	2 SubmittersRCV000043329 RCV001230710
NM_000548.5(TSC2):c.336+1G>A	SNV Germline	Chr16:2053453	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA018966	rs_45517102	3 SubmittersRCV000043330 RCV000476030 RCV003332095
NM_000548.5(TSC2):c.336+2T>G	SNV Germline	Chr16:2053454	Pathogenic	Tuberous sclerosis syndrome Condition: not provided	Criteria Provided Single Submitter	CA018982	rs_45505995	2 SubmittersRCV000043331 RCV003233097
NM_000548.5(TSC2):c.5069-2A>G	SNV Germline	Chr16:2088046	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2	Criteria Provided Multiple Submitters No Conflicts	CA021662	rs_45487291	3 SubmittersRCV000043332 RCV000815382
NM_000548.5(TSC2):c.3397+5G>A	SNV Germline	Chr16:2079674	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome Condition: not provided Tuberous sclerosis 2	Criteria Provided Conflicting Classifications	CA019083	rs_45501492	3 SubmittersRCV000043341 RCV000190074 RCV002514174
NM_000548.5(TSC2):c.2549T>C (p.Leu850Pro)	SNV Germline	Chr16:2075802	Pathogenic/Likely pathogenic	Tuberous sclerosis syndrome Hereditary cancer-predisposing syndrome Tuberous sclerosis 2	Criteria Provided Multiple Submitters No Conflicts	CA017661	rs_45517248	3 SubmittersRCV000043343 RCV000491444 RCV001852902
NM_000548.5(TSC2):c.2585C>T (p.Ala862Val)	SNV Germline	Chr16:2075838	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome not specified Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA017697	rs_45517249	10 SubmittersRCV000043344 RCV000612238 RCV001087230 RCV002255269
NM_000548.5(TSC2):c.2590C>T (p.Gln864Ter)	SNV Germline	Chr16:2075843	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA017705	rs_45517250	5 SubmittersRCV000043346 RCV001211580 RCV002247427
NM_000548.5(TSC2):c.3442C>T (p.Gln1148Ter)	SNV Germline	Chr16:2080209	Pathogenic	Tuberous sclerosis syndrome Lymphangiomyomatosis Tuberous sclerosis syndrome Condition: not provided Tuberous sclerosis 2 Tuberous sclerosis 2 Lymphangiomyomatosis Isolated focal cortical dysplasia type II	Criteria Provided Multiple Submitters No Conflicts	CA019175	rs_45477491	5 SubmittersRCV000043353 RCV000055289 RCV000478926 RCV000644112 RCV005394266
NM_000548.5(TSC2):c.3476G>T (p.Arg1159Leu)	SNV Germline	Chr16:2080243	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA019201	rs_45473098	6 SubmittersRCV000043355 RCV000477075 RCV000568240
NM_000548.5(TSC2):c.3491C>T (p.Ala1164Val)	SNV Germline	Chr16:2080258	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Condition: not provided not specified TSC2-related disorder	Criteria Provided Conflicting Classifications	CA019211	rs_45448801	15 SubmittersRCV000043356 RCV000228930 RCV000567364 RCV001699111 RCV001727553 RCV004537179
NM_000548.5(TSC2):c.2700C>A (p.Cys900Ter)	SNV Germline	Chr16:2076128	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2	Criteria Provided Single Submitter	CA017927	rs_45517257	2 SubmittersRCV000043359 RCV001054715
NM_000548.5(TSC2):c.4733T>C (p.Leu1578Pro)	SNV Germline	Chr16:2086263	Pathogenic/Likely pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2	Criteria Provided Multiple Submitters No Conflicts	CA020960	rs_45517367	3 SubmittersRCV000043361 RCV000820413
NM_000548.5(TSC2):c.4751T>G (p.Leu1584Arg)	SNV Germline	Chr16:2086281	Likely pathogenic	Tuberous sclerosis syndrome Hereditary cancer-predisposing syndrome Tuberous sclerosis 2	Criteria Provided Multiple Submitters No Conflicts	CA020979	rs_137854203	3 SubmittersRCV000043362 RCV002326765 RCV002514176
NM_000548.5(TSC2):c.4762C>T (p.Gln1588Ter)	SNV Germline	Chr16:2086292	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA020985	rs_45479192	6 SubmittersRCV000043363 RCV000201115 RCV000991340
NM_000548.5(TSC2):c.2742G>A (p.Lys914=)	SNV Germline	Chr16:2076170	Pathogenic/Likely pathogenic	Tuberous sclerosis syndrome Condition: not provided Tuberous sclerosis 2	Criteria Provided Multiple Submitters No Conflicts	CA018006	rs_137854877	3 SubmittersRCV000043370 RCV000657885 RCV005089400
NM_000548.5(TSC2):c.2086T>C (p.Cys696Arg)	SNV Germline	Chr16:2071923	Likely pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2	Criteria Provided Single Submitter	CA016629	rs_45483301	2 SubmittersRCV000043372 RCV000807899
NM_000548.5(TSC2):c.2087G>A (p.Cys696Tyr)	SNV Germline	Chr16:2071924	Pathogenic/Likely pathogenic	Tuberous sclerosis syndrome Hereditary cancer-predisposing syndrome Tuberous sclerosis 2	Criteria Provided Multiple Submitters No Conflicts	CA016643	rs_45486196	4 SubmittersRCV000043373 RCV000490930 RCV001240824
NM_000548.5(TSC2):c.3574C>T (p.Gln1192Ter)	SNV Germline	Chr16:2080341	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2	Criteria Provided Single Submitter	CA019287	rs_45517298	2 SubmittersRCV000043376 RCV001852903
NM_000548.5(TSC2):c.2194C>T (p.Gln732Ter)	SNV Germline	Chr16:2072337	Pathogenic	Tuberous sclerosis syndrome Condition: not provided Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA016897	rs_45517216	5 SubmittersRCV000043385 RCV000484682 RCV000811066 RCV002426589
NM_000548.5(TSC2):c.2198T>C (p.Leu733Pro)	SNV Germline	Chr16:2072341	Likely pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2	Criteria Provided Multiple Submitters No Conflicts	CA016906	rs_45517217	3 SubmittersRCV000043386 RCV002273946
NM_000548.5(TSC2):c.2220+1G>T	SNV Germline	Chr16:2072364	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2	Criteria Provided Single Submitter	CA016946	rs_137854361	3 SubmittersRCV000043387 RCV000722174
NM_000548.5(TSC2):c.4313G>A (p.Arg1438Gln)	SNV Germline	Chr16:2084535	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome not specified	Criteria Provided Conflicting Classifications	CA020250	rs_45448791	6 SubmittersRCV000043391 RCV000543604 RCV001022275 RCV004700316
NM_000548.5(TSC2):c.4324G>A (p.Glu1442Lys)	SNV Germline	Chr16:2084546	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome TSC2-related disorder	Criteria Provided Conflicting Classifications	CA020286	rs_45469392	7 SubmittersRCV000043392 RCV000536583 RCV001022298 RCV004537180
NM_000548.5(TSC2):c.1444-1G>A	SNV Germline	Chr16:2064271	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2	Criteria Provided Multiple Submitters No Conflicts	CA014864	rs_45515902	3 SubmittersRCV000043394 RCV002514178
NM_000548.5(TSC2):c.2251C>T (p.Arg751Ter)	SNV Germline	Chr16:2072879	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2 Condition: not provided Lymphangiomyomatosis Tuberous sclerosis 2 Isolated focal cortical dysplasia type II Hereditary cancer-predisposing syndrome Isolated focal cortical dysplasia type II	Criteria Provided Multiple Submitters No Conflicts	CA017090	rs_45517222	12 SubmittersRCV000043398 RCV000201032 RCV000519394 RCV000763365 RCV002444499 RCV004566812
NM_000548.5(TSC2):c.2353C>T (p.Gln785Ter)	SNV Germline	Chr16:2072981	Pathogenic	Tuberous sclerosis syndrome Condition: not provided Tuberous sclerosis 2	Criteria Provided Multiple Submitters No Conflicts	CA017226	rs_45517226	5 SubmittersRCV000043411 RCV000760361 RCV003512001
NM_000548.5(TSC2):c.1661C>A (p.Ser554Ter)	SNV Germline	Chr16:2065580	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2	Criteria Provided Single Submitter	CA015421	rs_45471596	2 SubmittersRCV000043413 RCV001852905
NM_000548.5(TSC2):c.1716+1G>A	SNV Germline	Chr16:2065636	Pathogenic/Likely pathogenic	Tuberous sclerosis syndrome Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA015487	rs_45517190	3 SubmittersRCV000043415 RCV003332096 RCV002399402
NM_000548.5(TSC2):c.3611G>A (p.Gly1204Glu)	SNV Germline	Chr16:2081595	Pathogenic/Likely pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA019384	rs_45462194	5 SubmittersRCV000043416 RCV000201026 RCV000414012
NM_000548.5(TSC2):c.2370C>G (p.Tyr790Ter)	SNV Germline	Chr16:2074214	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA017308	rs_45517232	3 SubmittersRCV000043424 RCV001852907 RCV002453343
NM_000548.5(TSC2):c.1793A>G (p.Tyr598Cys)	SNV Germline	Chr16:2070532	Pathogenic/Likely pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA015795	rs_45509791	5 SubmittersRCV000043430 RCV000473316 RCV004948152 RCV006449963
NM_000548.5(TSC2):c.1794C>G (p.Tyr598Ter)	SNV Germline	Chr16:2070533	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA015804	rs_45509094	3 SubmittersRCV000043431 RCV003512002 RCV003114226
NM_000548.5(TSC2):c.1133C>T (p.Pro378Leu)	SNV Germline	Chr16:2061884	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome Hereditary cancer-predisposing syndrome Condition: not provided Tuberous sclerosis 2 TSC2-related disorder	Criteria Provided Conflicting Classifications	CA013884	rs_45517154	11 SubmittersRCV000043432 RCV000572792 RCV000842561 RCV001084867 RCV004734601
NM_000548.5(TSC2):c.300G>A (p.Ala100=)	SNV Germline	Chr16:2053416	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome Hereditary cancer-predisposing syndrome not specified Condition: not provided Tuberous sclerosis 2	Criteria Provided Conflicting Classifications	CA018399	rs_45517100	13 SubmittersRCV000043438 RCV000163268 RCV000251650 RCV000724097 RCV001082842
NM_000548.5(TSC2):c.1249C>T (p.Gln417Ter)	SNV Germline	Chr16:2062000	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2	Criteria Provided Multiple Submitters No Conflicts	CA014169	rs_45517158	3 SubmittersRCV000043443 RCV000660342
NM_000548.5(TSC2):c.1255C>T (p.Pro419Ser)	SNV Germline	Chr16:2062006	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2	Criteria Provided Single Submitter	CA014179	rs_45517159	2 SubmittersRCV000043444 RCV000201101
NM_000548.5(TSC2):c.1839+1G>T	SNV Germline	Chr16:2070579	Pathogenic	Tuberous sclerosis syndrome Condition: not provided Tuberous sclerosis 2	Criteria Provided Multiple Submitters No Conflicts	CA015948	rs_45438400	3 SubmittersRCV000043446 RCV000498860 RCV003512003
NM_000548.5(TSC2):c.1293G>A (p.Ala431=)	SNV Germline	Chr16:2062532	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome Hereditary cancer-predisposing syndrome Tuberous sclerosis 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA014379	rs_45517162	10 SubmittersRCV000043449 RCV000163730 RCV000476624 RCV001707517
NM_000548.5(TSC2):c.2447C>T (p.Pro816Leu)	SNV Germline	Chr16:2074291	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome Condition: not provided Tuberous sclerosis 2	Criteria Provided Conflicting Classifications	CA017430	rs_45517236	5 SubmittersRCV000043451 RCV000430436 RCV001705694
NM_000548.5(TSC2):c.1362-10C>A	SNV Germline	Chr16:2062962	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome Tuberous sclerosis 2 Condition: not provided Hereditary cancer-predisposing syndrome Isolated focal cortical dysplasia type II TSC2-related disorder	Criteria Provided Conflicting Classifications	CA014539	rs_45446697	11 SubmittersRCV000043454 RCV000535683 RCV001797054 RCV002381328 RCV003466896 RCV004528239
NM_000548.5(TSC2):c.1362-2A>G	SNV Germline	Chr16:2062970	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2	Criteria Provided Single Submitter	CA014545	rs_45517165	2 SubmittersRCV000043455 RCV001388104
NM_000548.5(TSC2):c.136A>T (p.Arg46Ter)	SNV Germline	Chr16:2048751	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2	Criteria Provided Single Submitter	CA014603	rs_137854266	2 SubmittersRCV000043457 RCV002470737
NM_000548.5(TSC2):c.1947-2A>G	SNV Germline	Chr16:2071782	Pathogenic	Tuberous sclerosis syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Single Submitter	CA016294	rs_45517207	2 SubmittersRCV000043459 RCV004678604
NM_000548.5(TSC2):c.138+5G>A	SNV Germline/somatic	Chr16:2048758	Pathogenic/Likely pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2 Condition: not provided Lymphangiomyomatosis Tuberous sclerosis 2 Isolated focal cortical dysplasia type II Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA014690	rs_45481400	6 SubmittersRCV000043461 RCV001380069 RCV001843466 RCV002496685 RCV004668763
NM_000548.5(TSC2):c.1385G>A (p.Arg462His)	SNV Germline	Chr16:2062995	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome Tuberous sclerosis 2 Condition: not provided Hereditary cancer-predisposing syndrome Isolated focal cortical dysplasia type II	Criteria Provided Conflicting Classifications	CA014699	rs_45494392	7 SubmittersRCV000043462 RCV000528206 RCV001562608 RCV002390182 RCV003466897
NM_000548.5(TSC2):c.1397T>C (p.Leu466Pro)	SNV Germline	Chr16:2063007	Likely pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 2	Criteria Provided Single Submitter	CA014733	rs_45481199	2 SubmittersRCV000043463 RCV000807349
NM_000548.5(TSC2):c.1397T>G (p.Leu466Arg)	SNV Germline	Chr16:2063007	Likely pathogenic	Tuberous sclerosis syndrome Condition: not provided	Criteria Provided Single Submitter	CA014742	rs_45481199	2 SubmittersRCV000043464 RCV000482403
NM_000368.5(TSC1):c.853T>G (p.Phe285Val)	SNV Germline	Chr9:132912342	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome not specified Tuberous sclerosis 1 Hereditary cancer-predisposing syndrome Condition: not provided Kidney failure	Criteria Provided Conflicting Classifications	CA008327	rs_377076733	12 SubmittersRCV000054874 RCV000122199 RCV000465974 RCV000568811 RCV001618239 RCV005625256
NM_000368.5(TSC1):c.325C>T (p.Gln109Ter)	SNV Germline	Chr9:132925625	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA007276	rs_397514774	4 SubmittersRCV000054876 RCV000823533 RCV002307386
NM_000368.5(TSC1):c.260T>G (p.Leu87Ter)	SNV Germline	Chr9:132925690	Pathogenic	Tuberous sclerosis syndrome Condition: not provided Hereditary cancer-predisposing syndrome Tuberous sclerosis 1	Criteria Provided Multiple Submitters No Conflicts	CA006706	rs_397514776	4 SubmittersRCV000054878 RCV000305404 RCV004018978 RCV003505092
NM_000368.5(TSC1):c.397G>A (p.Val133Ile)	SNV Germline	Chr9:132923459	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome Tuberous sclerosis 1 Condition: not provided Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 Lymphangiomyomatosis Isolated focal cortical dysplasia type II	Criteria Provided Conflicting Classifications	CA007561	rs_118203381	8 SubmittersRCV000054879 RCV000456358 RCV000782214 RCV002371892 RCV005049413
NM_000368.5(TSC1):c.2272C>T (p.Gln758Ter)	SNV Germline	Chr9:132902724	Pathogenic	Tuberous sclerosis syndrome Condition: not provided Tuberous sclerosis 1	Criteria Provided Multiple Submitters No Conflicts	CA006205	rs_397514783	5 SubmittersRCV000054888 RCV000428655 RCV000705433
NM_000368.5(TSC1):c.395G>A (p.Gly132Asp)	SNV Germline	Chr9:132923461	Likely pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 1 Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA007549	rs_397514784	3 SubmittersRCV000054889 RCV002513715 RCV006287157
NM_000368.5(TSC1):c.2080C>T (p.Gln694Ter)	SNV Germline	Chr9:132903779	Pathogenic	Malignant tumor of urinary bladder Tuberous sclerosis syndrome Tuberous sclerosis 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA005924	rs_397514789	3 SubmittersRCV000054918 RCV000054897 RCV002267724 RCV002509195
NM_000368.5(TSC1):c.2077G>C (p.Asp693His)	SNV Germline	Chr9:132903782	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome Hereditary cancer-predisposing syndrome Condition: not provided Tuberous sclerosis 1 TSC1-related disorder	Criteria Provided Conflicting Classifications	CA005916	rs_397514800	10 SubmittersRCV000054914 RCV000564681 RCV000724243 RCV001083507 RCV003407435
NM_000368.5(TSC1):c.508+1G>A	SNV Germline	Chr9:132923347	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 1	Criteria Provided Single Submitter	CA007652	rs_118203390	2 SubmittersRCV000054919 RCV002291555
NM_000368.5(TSC1):c.1439-1G>A	SNV Germline	Chr9:132906140	Pathogenic/Likely pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA004817	rs_397514804	3 SubmittersRCV000054925 RCV001039771 RCV001781387
NM_000368.5(TSC1):c.3436G>T (p.Asp1146Tyr)	SNV Germline	Chr9:132896294	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome Condition: not provided Tuberous sclerosis 1 Hereditary cancer-predisposing syndrome not specified Lymphangiomyomatosis Tuberous sclerosis 1 Isolated focal cortical dysplasia type II	Criteria Provided Conflicting Classifications	CA007378	rs_397514806	10 SubmittersRCV000054927 RCV000831184 RCV001084718 RCV001020306 RCV003398644 RCV005042170
NM_000368.5(TSC1):c.915G>A (p.Gly305=)	SNV Germline	Chr9:132911567	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome Tuberous sclerosis 1 Hereditary cancer-predisposing syndrome Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA008416	rs_397515293	10 SubmittersRCV000054929 RCV000526995 RCV001018932 RCV001570973 RCV005437966
NM_000368.5(TSC1):c.1007G>A (p.Arg336Gln)	SNV Germline	Chr9:132911475	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome Hereditary cancer-predisposing syndrome Tuberous sclerosis 1	Criteria Provided Conflicting Classifications	CA004301	rs_397514808	6 SubmittersRCV000054930 RCV000215128 RCV000465854
NM_000368.5(TSC1):c.182T>G (p.Leu61Arg)	SNV Germline	Chr9:132927229	Likely pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 1	Criteria Provided Single Submitter	CA005458	rs_118203345	2 SubmittersRCV000054934 RCV000461024
NM_000368.5(TSC1):c.2431C>G (p.Arg811Gly)	SNV Germline	Chr9:132901660	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome Tuberous sclerosis 1 Lymphangiomyomatosis Isolated focal cortical dysplasia type II Tuberous sclerosis 1	Criteria Provided Conflicting Classifications	CA006430	rs_397514814	3 SubmittersRCV000054939 RCV000641963 RCV005042171
NM_000368.5(TSC1):c.1876G>T (p.Glu626Ter)	SNV Germline	Chr9:132905702	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 1	Criteria Provided Single Submitter	CA005496	rs_397514815	2 SubmittersRCV000054940 RCV002515741
NM_000368.5(TSC1):c.211-1G>T	SNV Germline	Chr9:132925740	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 1	Criteria Provided Single Submitter	CA006049	rs_118203353	2 SubmittersRCV000054944 RCV000797052
NM_000368.5(TSC1):c.1141+1G>T	SNV Germline	Chr9:132911001	Likely pathogenic	Tuberous sclerosis syndrome Condition: not provided	Criteria Provided Single Submitter	CA004442	rs_397514819	2 SubmittersRCV000054948 RCV001508280
NM_000368.5(TSC1):c.2191G>T (p.Glu731Ter)	SNV Germline	Chr9:132903668	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 1	Criteria Provided Multiple Submitters No Conflicts	CA006117	rs_397514820	3 SubmittersRCV000054949 RCV001389750
NM_000368.5(TSC1):c.1231C>A (p.Leu411Ile)	SNV Germline	Chr9:132910603	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome Tuberous sclerosis 1 Craniopharyngioma Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA004502	rs_397514840	6 SubmittersRCV000054977 RCV000474632 RCV000761088 RCV002362687
NM_000368.5(TSC1):c.2041+1G>A	SNV Germline	Chr9:132904410	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 1	Criteria Provided Multiple Submitters No Conflicts	CA005819	rs_397514842	4 SubmittersRCV000054979 RCV000201001
NM_000368.5(TSC1):c.1759A>T (p.Lys587Ter)	SNV Germline	Chr9:132905819	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 1	Criteria Provided Single Submitter	CA005369	rs_397514846	2 SubmittersRCV000054983 RCV001250493
NM_000368.5(TSC1):c.2626-1G>A	SNV Germline	Chr9:132897611	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA006719	rs_397514847	5 SubmittersRCV000054985 RCV001250494 RCV006250247
NM_000368.5(TSC1):c.2932C>G (p.Leu978Val)	SNV Germline	Chr9:132897227	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome Condition: not provided Tuberous sclerosis 1 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA007103	rs_397514859	9 SubmittersRCV000055001 RCV000724068 RCV001081160 RCV002316209
NM_000368.5(TSC1):c.2389C>T (p.Gln797Ter)	SNV Germline	Chr9:132902607	Pathogenic	Tuberous sclerosis syndrome Condition: not provided Tuberous sclerosis 1 Lymphangiomyomatosis Isolated focal cortical dysplasia type II Tuberous sclerosis 1	Criteria Provided Multiple Submitters No Conflicts	CA006376	rs_397514862	6 SubmittersRCV000055004 RCV000413404 RCV000551066 RCV002496733
NM_000368.5(TSC1):c.346T>G (p.Leu116Val)	SNV Germline	Chr9:132925604	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome Autism spectrum disorder not specified Hereditary cancer-predisposing syndrome Isolated focal cortical dysplasia type II Condition: not provided Tuberous sclerosis 1 TSC1-related disorder Lymphangiomyomatosis Tuberous sclerosis 1 Isolated focal cortical dysplasia type II	Criteria Provided Conflicting Classifications	CA007386	rs_199620268	19 SubmittersRCV000055005 RCV000055027 RCV000122184 RCV000163292 RCV000372436 RCV000725839 RCV001080106 RCV003934997 RCV005394288
NM_000368.5(TSC1):c.1922C>A (p.Pro641His)	SNV Germline	Chr9:132905656	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome Tuberous sclerosis 1 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA005606	rs_397514863	8 SubmittersRCV000055006 RCV000555785 RCV001013706 RCV006258994
NM_000368.5(TSC1):c.3387C>T (p.Ala1129=)	SNV Germline	Chr9:132896343	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome not specified Tuberous sclerosis 1 Isolated focal cortical dysplasia type II Hereditary cancer-predisposing syndrome Condition: not provided Tuberous sclerosis 1 Lymphangiomyomatosis Isolated focal cortical dysplasia type II	Criteria Provided Conflicting Classifications	CA007340	rs_200200869	14 SubmittersRCV000055007 RCV000193910 RCV000234681 RCV000296323 RCV000563418 RCV003884344 RCV005394289
NM_000368.5(TSC1):c.1084C>T (p.Pro362Ser)	SNV Germline	Chr9:132911059	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA004402	rs_397514864	8 SubmittersRCV000055009 RCV000217275 RCV000642024 RCV000725515
NM_000368.5(TSC1):c.542A>C (p.His181Pro)	SNV Germline	Chr9:132921940	Likely pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 1	Criteria Provided Single Submitter	CA007715	rs_397515294	2 SubmittersRCV000055010 RCV002273951
NM_000368.5(TSC1):c.866C>G (p.Ser289Ter)	SNV Germline	Chr9:132912329	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 1	Criteria Provided Multiple Submitters No Conflicts	CA008332	rs_397514867	4 SubmittersRCV000055015 RCV000201058
NM_000368.5(TSC1):c.2698C>T (p.Gln900Ter)	SNV Germline	Chr9:132897538	Pathogenic	Tuberous sclerosis syndrome Tuberous sclerosis 1 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA006903	rs_397514871	4 SubmittersRCV000055019 RCV000201112 RCV002426611 RCV002508192
NM_000368.5(TSC1):c.2128C>T (p.Gln710Ter)	SNV Germline	Chr9:132903731	Pathogenic	Tuberous sclerosis syndrome Condition: not provided	Criteria Provided Single Submitter	CA006060	rs_397514874	2 SubmittersRCV000055023 RCV000521121
NM_000368.5(TSC1):c.737+1G>T	SNV Germline	Chr9:132921362	Pathogenic/Likely pathogenic	Tuberous sclerosis syndrome Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA008101	rs_118203438	3 SubmittersRCV000055031 RCV000498128 RCV002381356
NM_000368.5(TSC1):c.473T>C (p.Phe158Ser)	SNV Germline	Chr9:132923383	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome Condition: not provided Tuberous sclerosis 1	Criteria Provided Conflicting Classifications	CA007609	rs_118203385	4 SubmittersRCV000055032 RCV003480047 RCV002513716

NM_000368.5(TSC1):c.749T>A (p.Leu250Ter)

SNV
Germline

Chr9:132912446

Pathogenic

Tuberous sclerosis 1
Tuberous sclerosis syndrome

Criteria Provided
Single Submitter

CA008189

rs_118203447

3 SubmittersRCV000005404 RCV000042356

NM_000368.5(TSC1):c.2194C>T (p.His732Tyr)

SNV
Germline

Chr9:132903665

Conflicting classifications of pathogenicity

Focal cortical dysplasia of Taylor type 2B
Tuberous sclerosis 1
Tuberous sclerosis syndrome
Condition: not provided
not specified
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA006123

rs_118203657

32 SubmittersRCV000005409 RCV000005410 RCV000054851 RCV000034607 RCV000118692 RCV000129684 RCV000278906

NM_000368.5(TSC1):c.671T>G (p.Met224Arg)

SNV
Germline

Chr9:132921429

Likely pathogenic

Tuberous sclerosis 1
Tuberous sclerosis syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA008014

rs_118203426

4 SubmittersRCV000005411 RCV000042336

NM_000368.5(TSC1):c.539T>C (p.Leu180Pro)

SNV
Germline

Chr9:132921943

Pathogenic

Tuberous sclerosis 1
Tuberous sclerosis syndrome

No Assertion Criteria Provided

CA007706

rs_118203396

2 SubmittersRCV000005412 RCV000042306

NM_000548.5(TSC2):c.5024C>T (p.Pro1675Leu)

SNV
Germline

Chr16:2087897

Pathogenic

Tuberous sclerosis 2
Lymphangiomyomatosis
Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Hereditary cancer-predisposing syndrome
TSC2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA021526

rs_45483392

19 SubmittersRCV000013201 RCV000055436 RCV000043065 RCV000493720 RCV002496339 RCV002345240 RCV004734515

NM_000548.5(TSC2):c.34A>T (p.Lys12Ter)

SNV
Germline

Chr16:2048649

Pathogenic

Tuberous sclerosis 2
Tuberous sclerosis syndrome

No Assertion Criteria Provided

CA019229

rs_45512692

2 SubmittersRCV000013202 RCV000042837

NM_000548.5(TSC2):c.1513C>T (p.Arg505Ter)

SNV
Germline

Chr16:2064341

Pathogenic

Tuberous sclerosis 2
Lymphangiomyomatosis
Tuberous sclerosis syndrome
Condition: not provided
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Lymphangiomyomatosis
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA015026

rs_45517179

13 SubmittersRCV000013204 RCV000055539 RCV000043399 RCV000517734 RCV000768350 RCV002390103

NM_000548.5(TSC2):c.1832G>A (p.Arg611Gln)

SNV
Germline/somatic

Chr16:2070571

Pathogenic/Likely pathogenic

Tuberous sclerosis 2
Tuberous sclerosis syndrome
Lymphangiomyomatosis
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis

Criteria Provided
Multiple Submitters
No Conflicts

CA015920

rs_28934872

20 SubmittersRCV000013205 RCV000042946 RCV000055317 RCV000414340 RCV000491426 RCV000768118

NM_000548.5(TSC2):c.2150T>G (p.Leu717Arg)

SNV
Germline

Chr16:2072293

Pathogenic

Tuberous sclerosis 2
Tuberous sclerosis syndrome

No Assertion Criteria Provided

CA016832

rs_45517214

2 SubmittersRCV000013207 RCV000042452

NM_000548.5(TSC2):c.1432C>T (p.Gln478Ter)

SNV
Germline

Chr16:2063042

Pathogenic

Tuberous sclerosis 2
Tuberous sclerosis syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA014795

rs_121964862

4 SubmittersRCV000013208 RCV000042413 RCV001839481

NM_000548.5(TSC2):c.1096G>T (p.Glu366Ter)

SNV
Germline/somatic

Chr16:2060790

Pathogenic

Tuberous sclerosis syndrome
Lymphangiomyomatosis
Condition: not provided
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA013758

rs_45517148

7 SubmittersRCV000042986 RCV000055263 RCV000497801 RCV001194675

NM_000548.5(TSC2):c.4508A>C (p.Gln1503Pro)

SNV
Germline

Chr16:2084965

Pathogenic/Likely pathogenic

Tuberous sclerosis 2
Tuberous sclerosis syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II

Criteria Provided
Multiple Submitters
No Conflicts

CA020573

rs_45516293

11 SubmittersRCV000013210 RCV000043266 RCV000492813 RCV002316192 RCV003460465

NM_000548.5(TSC2):c.2714G>A (p.Arg905Gln)

SNV
Germline

Chr16:2076142

Pathogenic/Likely pathogenic

Tuberous sclerosis 2
Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
TSC2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA017951

rs_45517259

16 SubmittersRCV000013212 RCV000042875 RCV000221069 RCV000255572 RCV002482858 RCV004532330

NM_000548.5(TSC2):c.2713C>T (p.Arg905Trp)

SNV
Germline

Chr16:2076141

Pathogenic

Tuberous sclerosis 2
Tuberous sclerosis syndrome
Condition: not provided
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Lymphangiomyomatosis
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA017942

rs_45517258

18 SubmittersRCV000013213 RCV000042962 RCV000482063 RCV001536008 RCV002426499

NM_000548.5(TSC2):c.2713C>G (p.Arg905Gly)

SNV
Germline

Chr16:2076141

Pathogenic

Tuberous sclerosis 2
Tuberous sclerosis syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA017936

rs_45517258

4 SubmittersRCV000013214 RCV000042482 RCV003441714

NM_000548.5(TSC2):c.1322G>A (p.Trp441Ter)

SNV
Germline

Chr16:2062561

Pathogenic

Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Single Submitter

CA014401

rs_45515894

3 SubmittersRCV000013216 RCV000043450

NM_000368.5(TSC1):c.121C>A (p.Leu41Ile)

SNV
Germline

Chr9:132927290

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Lymphangiomyomatosis
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA004496

rs_118203334

8 SubmittersRCV000034600 RCV000054854 RCV001010401 RCV001086659 RCV005049400

NM_000368.5(TSC1):c.1460C>G (p.Ser487Cys)

SNV
Germline

Chr9:132906118

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis syndrome
not specified
Isolated focal cortical dysplasia type II
Hereditary cancer-predisposing syndrome
Primitive neuroectodermal tumor
Tuberous sclerosis 1

Criteria Provided
Conflicting Classifications

CA004868

rs_118203532

17 SubmittersRCV000034602 RCV000054845 RCV000189811 RCV000319085 RCV000568490 RCV000761004 RCV001085737

NM_000368.5(TSC1):c.1960C>G (p.Gln654Glu)

SNV
Germline

Chr9:132905618

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis syndrome
not specified
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA005650

rs_75820036

19 SubmittersRCV000034604 RCV000054846 RCV000186670 RCV000234486 RCV000570330

NM_000368.5(TSC1):c.2066G>A (p.Arg689His)

SNV
Germline

Chr9:132903793

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA005883

rs_200827913

6 SubmittersRCV000034605 RCV000163566 RCV001083067 RCV003996171

NM_000368.5(TSC1):c.2075G>A (p.Arg692Gln)

SNV
Germline

Chr9:132903784

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Tuberous sclerosis 1
TSC1-related disorder
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA005908

rs_199755731

13 SubmittersRCV000034606 RCV000163280 RCV000317696 RCV000515239 RCV001083195 RCV003934882 RCV005401291

NM_000368.5(TSC1):c.3103G>A (p.Gly1035Ser)

SNV
Germline

Chr9:132896627

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
not specified
Isolated focal cortical dysplasia type II
Tuberous sclerosis 1

Criteria Provided
Conflicting Classifications

CA007165

rs_118203742

23 SubmittersRCV000034609 RCV000054850 RCV000130763 RCV000122196 RCV000297382 RCV001080484

NM_000368.5(TSC1):c.3428C>T (p.Pro1143Leu)

SNV
Germline

Chr9:132896302

Conflicting classifications of pathogenicity

Condition: not provided
Isolated focal cortical dysplasia type II
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA007363

rs_201867031

9 SubmittersRCV000034611 RCV000274136 RCV000572666 RCV001081625 RCV005401292

NM_000368.5(TSC1):c.851G>A (p.Arg284His)

SNV
Germline

Chr9:132912344

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA008318

rs_151309813

9 SubmittersRCV000034612 RCV001080486 RCV001017939 RCV006547511

NM_000548.5(TSC2):c.1070C>T (p.Ala357Val)

SNV
Germline

Chr16:2060764

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis syndrome
not specified
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Uterine corpus endometrial carcinoma
Ovarian serous cystadenocarcinoma
Cervical cancer
Colorectal cancer
Melanoma

Criteria Provided
Conflicting Classifications

CA013675

rs_150195368

19 SubmittersRCV000034641 RCV000055595 RCV000122202 RCV000163628 RCV000230505 RCV000714826 RCV005888942 RCV005888940 RCV005888938 RCV005888939 RCV005888941

NM_000548.5(TSC2):c.1318G>A (p.Gly440Ser)

SNV
Germline

Chr16:2062557

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis syndrome
not specified
Hereditary cancer-predisposing syndrome
Hirschsprung disease, susceptibility to, 1
Tuberous sclerosis 2
TSC2-related disorder
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis

Criteria Provided
Conflicting Classifications

CA014394

rs_45484298

28 SubmittersRCV000034643 RCV000054863 RCV000122204 RCV000163424 RCV000201296 RCV000227708 RCV004528161 RCV005394204

NM_000548.5(TSC2):c.1340C>T (p.Ala447Val)

SNV
Germline

Chr16:2062579

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
not specified

Criteria Provided
Conflicting Classifications

CA014447

rs_45486591

14 SubmittersRCV000034644 RCV000054865 RCV000569820 RCV001083058 RCV005434617

NM_000548.5(TSC2):c.1458C>G (p.Asn486Lys)

SNV
Germline

Chr16:2064286

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA014912

rs_200532154

6 SubmittersRCV000034645 RCV000190067 RCV000644164 RCV002390139

NM_000548.5(TSC2):c.1939G>A (p.Asp647Asn)

SNV
Germline

Chr16:2071609

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
TSC2-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA016233

rs_45509392

18 SubmittersRCV000034648 RCV000054861 RCV000562486 RCV000989423 RCV004534722 RCV004998130

NM_000548.5(TSC2):c.2476C>A (p.Leu826Met)

SNV
Germline

Chr16:2074320

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
not specified
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA017492

rs_45517238

23 SubmittersRCV000034649 RCV000054857 RCV000163390 RCV000176271 RCV000989426

NM_000548.5(TSC2):c.3430G>A (p.Val1144Met)

SNV
Germline

Chr16:2080197

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis syndrome
not specified
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
TSC2-related disorder
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis

Criteria Provided
Conflicting Classifications

CA019154

rs_45517294

20 SubmittersRCV000034650 RCV000055184 RCV000122226 RCV000163263 RCV000989431 RCV004541070 RCV005394206

NM_000548.5(TSC2):c.3889G>A (p.Ala1297Thr)

SNV
Germline

Chr16:2083700

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis syndrome
not specified
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Lymphangiomyomatosis
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA019668

rs_45517319

29 SubmittersRCV000034653 RCV000054864 RCV000122229 RCV000129666 RCV000231518 RCV005394207

NM_000548.5(TSC2):c.4046C>T (p.Ala1349Val)

SNV
Germline

Chr16:2084268

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA019876

rs_201979616

10 SubmittersRCV000034656 RCV000215282 RCV001081977 RCV006547512

NM_000548.5(TSC2):c.4225C>T (p.Arg1409Trp)

SNV
Germline

Chr16:2084447

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
not specified
Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
TSC2-related disorder

Criteria Provided
Conflicting Classifications

CA020096

rs_45517333

16 SubmittersRCV000034657 RCV000054871 RCV000566784 RCV000606975 RCV000768352 RCV001082570 RCV004534723

NM_000548.5(TSC2):c.5359G>A (p.Gly1787Ser)

SNV
Germline

Chr16:2088545

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis syndrome
not specified
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
TSC2-related disorder

Criteria Provided
Conflicting Classifications

CA022408

rs_45517419

25 SubmittersRCV000034663 RCV000054855 RCV000122242 RCV000130722 RCV000202756 RCV004534724

NM_000548.5(TSC2):c.5368G>A (p.Val1790Met)

SNV
Germline

Chr16:2088554

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
TSC2-related disorder
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA022424

rs_200140994

9 SubmittersRCV000034664 RCV000567483 RCV001088019 RCV004534725 RCV006547513

NM_000548.5(TSC2):c.5418T>G (p.Phe1806Leu)

SNV
Germline

Chr16:2088604

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA022504

rs_200004126

8 SubmittersRCV000034666 RCV001024070 RCV001081523 RCV006547514

NM_000548.5(TSC2):c.922C>G (p.Arg308Gly)

SNV
Germline

Chr16:2058820

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA023120

rs_201144475

7 SubmittersRCV000034667 RCV001084556 RCV002257374 RCV003996175

NM_000368.5(TSC1):c.1001C>A (p.Ser334Ter)

SNV
Germline

Chr9:132911481

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 1

Criteria Provided
Single Submitter

CA004269

rs_118203481

2 SubmittersRCV000041973 RCV003505083

NM_000368.5(TSC1):c.1029+1G>A

SNV
Germline

Chr9:132911452

Pathogenic/Likely pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 1
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA004316

rs_118203485

5 SubmittersRCV000041976 RCV001204448 RCV002477137 RCV004018918

NM_000368.5(TSC1):c.1041G>A (p.Trp347Ter)

SNV
Germline

Chr9:132911102

Pathogenic

Malignant tumor of urinary bladder
Condition: not provided
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA004355

rs_118203491

5 SubmittersRCV000041982 RCV001531750 RCV002514164 RCV003372612

NM_000368.5(TSC1):c.1047A>G (p.Pro349=)

SNV
Germline

Chr9:132911096

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA004363

rs_118203492

12 SubmittersRCV000041983 RCV000472218 RCV000564589 RCV001167269 RCV001697066 RCV006258940

NM_000368.5(TSC1):c.1250C>T (p.Thr417Ile)

SNV
Germline

Chr9:132910584

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Malignant tumor of urinary bladder
not specified
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
TSC1-related disorder

Criteria Provided
Conflicting Classifications

CA004523

rs_77464996

13 SubmittersRCV000041999 RCV000055012 RCV000422201 RCV001010542 RCV000988278 RCV001165673 RCV004745176

NM_000368.5(TSC1):c.1333+13C>T

SNV
Germline

Chr9:132907288

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
not specified
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 1
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA004654

rs_118203516

7 SubmittersRCV000042011 RCV000420716 RCV002490586 RCV002054841 RCV004017339

NM_000368.5(TSC1):c.1438+6G>A

SNV
Germline

Chr9:132906725

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Condition: not provided
Isolated focal cortical dysplasia type II
Tuberous sclerosis 1
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA004815

rs_118203530

14 SubmittersRCV000042029 RCV000227291 RCV000385329 RCV001083129 RCV001727548 RCV002256017

NM_000368.5(TSC1):c.1439-2A>G

SNV
Germline

Chr9:132906141

Likely pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 1

Criteria Provided
Single Submitter

CA004828

rs_118203531

2 SubmittersRCV000042030 RCV001208859

NM_000368.5(TSC1):c.1498C>T (p.Arg500Ter)

SNV
Germline

Chr9:132906080

Pathogenic/Likely pathogenic

Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 1
Lymphangiomyomatosis
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis

Criteria Provided
Multiple Submitters
No Conflicts

CA004940

rs_118203537

14 SubmittersRCV000042038 RCV000254845 RCV000474016 RCV001199095 RCV002390180 RCV004795960

NM_000368.5(TSC1):c.1501G>T (p.Gly501Ter)

SNV
Germline

Chr9:132906077

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 1

Criteria Provided
Single Submitter

CA004963

rs_118203539

2 SubmittersRCV000042041 RCV006461279

NM_000368.5(TSC1):c.1525C>T (p.Arg509Ter)

SNV
Germline

Chr9:132906053

Pathogenic

Malignant tumor of urinary bladder
Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 1
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
TSC1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA004986

rs_118203542

19 SubmittersRCV000055036 RCV000042043 RCV000189847 RCV000201132 RCV000515319 RCV002390181 RCV004745177

NM_000368.5(TSC1):c.153A>C (p.Glu51Asp)

SNV
Germline

Chr9:132927258

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
TSC1-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA005036

rs_118203342

9 SubmittersRCV000042047 RCV000461171 RCV001011985 RCV004721251 RCV004745178 RCV005890293

NM_000368.5(TSC1):c.1579C>T (p.Gln527Ter)

SNV
Germline

Chr9:132905999

Pathogenic/Likely pathogenic

Tuberous sclerosis syndrome
Malignant tumor of urinary bladder
Condition: not provided
Tuberous sclerosis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA005069

rs_118203549

6 SubmittersRCV000042051 RCV000054972 RCV000578889 RCV000660336

NM_000368.5(TSC1):c.163C>T (p.Gln55Ter)

SNV
Germline

Chr9:132927248

Pathogenic

Tuberous sclerosis syndrome
Malignant tumor of urinary bladder
Tuberous sclerosis 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA005119

rs_118203343

4 SubmittersRCV000042055 RCV000054965 RCV001852863 RCV004797774

NM_000368.5(TSC1):c.1825G>T (p.Glu609Ter)

SNV
Germline

Chr9:132905753

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 1

Criteria Provided
Single Submitter

CA005447

rs_118203587

2 SubmittersRCV000042090 RCV003505086

NM_000368.5(TSC1):c.182T>C (p.Leu61Pro)

SNV
Germline

Chr9:132927229

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA005453

rs_118203345

3 SubmittersRCV000042091 RCV001380989 RCV002286701

NM_000368.5(TSC1):c.1960C>T (p.Gln654Ter)

SNV
Germline

Chr9:132905618

Pathogenic

Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA005658

rs_75820036

8 SubmittersRCV000042109 RCV000713908 RCV000698745 RCV002415486

NM_000368.5(TSC1):c.1963C>T (p.Gln655Ter)

SNV
Germline

Chr9:132905615

Pathogenic

Tuberous sclerosis syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA005663

rs_118203606

5 SubmittersRCV000042110 RCV000189852 RCV002415487 RCV003505087

NM_000368.5(TSC1):c.1974C>G (p.Asp658Glu)

SNV
Germline

Chr9:132905604

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA005685

rs_118203608

9 SubmittersRCV000042112 RCV000841758 RCV001056632 RCV002255265 RCV005042124

NM_000368.5(TSC1):c.1997+1G>A

SNV
Germline

Chr9:132905580

Pathogenic/Likely pathogenic

Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA005710

rs_118203610

4 SubmittersRCV000042114 RCV000189849 RCV002514165

NM_000368.5(TSC1):c.1997+1G>C

SNV
Germline

Chr9:132905580

Likely pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 1

Criteria Provided
Single Submitter

CA005716

rs_118203610

2 SubmittersRCV000042115 RCV005862746

NM_000368.5(TSC1):c.1998-1G>C

SNV
Germline

Chr9:132904455

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 1

Criteria Provided
Single Submitter

CA005737

rs_118203614

2 SubmittersRCV000042118 RCV001058298

NM_000368.5(TSC1):c.2006T>G (p.Leu669Ter)

SNV
Germline

Chr9:132904446

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 1

Criteria Provided
Single Submitter

CA005764

rs_118203617

2 SubmittersRCV000042121 RCV001203717

NM_000368.5(TSC1):c.2028G>A (p.Trp676Ter)

SNV
Germline

Chr9:132904424

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA005793

rs_118203621

3 SubmittersRCV000042125 RCV003326117

NM_000368.5(TSC1):c.2039G>A (p.Gly680Glu)

SNV
Germline

Chr9:132904413

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA005810

rs_118203623

6 SubmittersRCV000042127 RCV000226639 RCV002256018

NM_000368.5(TSC1):c.2041+2T>C

SNV
Germline

Chr9:132904409

Pathogenic

Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Single Submitter

CA005827

rs_118203625

2 SubmittersRCV000042130 RCV002415488

NM_000368.5(TSC1):c.2041G>A (p.Gly681Ser)

SNV
Germline

Chr9:132904411

Pathogenic

Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Single Submitter

CA005830

rs_118203624

2 SubmittersRCV000042131 RCV002415489

NM_000368.5(TSC1):c.2042-2A>G

SNV
Germline

Chr9:132903819

Likely pathogenic

Tuberous sclerosis syndrome
Isolated focal cortical dysplasia type II
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA005836

rs_118203628

3 SubmittersRCV000042132 RCV003460554 RCV003886371

NM_000368.5(TSC1):c.2042-5A>G

SNV
Germline

Chr9:132903822

Pathogenic/Likely pathogenic

Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA005839

rs_118203627

5 SubmittersRCV000042133 RCV000568333 RCV001222573 RCV005416325

NM_000368.5(TSC1):c.2054C>A (p.Ser685Ter)

SNV
Germline

Chr9:132903805

Likely pathogenic

Tuberous sclerosis syndrome
Condition: not provided

Criteria Provided
Single Submitter

CA005869

rs_118203629

2 SubmittersRCV000042134 RCV004696653

NM_000368.5(TSC1):c.2074C>T (p.Arg692Ter)

SNV
Germline

Chr9:132903785

Pathogenic

Tuberous sclerosis syndrome
Malignant tumor of urinary bladder
Tuberous sclerosis 1
Condition: not provided
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA005901

rs_118203631

21 SubmittersRCV000042136 RCV000054891 RCV000201087 RCV000413998 RCV000763190 RCV002415490

NM_000368.5(TSC1):c.211-1G>A

SNV
Germline

Chr9:132925740

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 1
Lymphangiomyomatosis
Tuberous sclerosis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA006045

rs_118203353

3 SubmittersRCV000042153 RCV000686570 RCV005890295

NM_000368.5(TSC1):c.211-2A>C

SNV
Germline

Chr9:132925741

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA006053

rs_118203352

4 SubmittersRCV000042154 RCV000201170

NM_000368.5(TSC1):c.2112T>A (p.Tyr704Ter)

SNV
Germline

Chr9:132903747

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 1
Condition: not provided

Criteria Provided
Single Submitter

CA006056

rs_118203646

3 SubmittersRCV000042157 RCV001199387 RCV003311670

NM_000368.5(TSC1):c.2131C>T (p.Gln711Ter)

SNV
Germline

Chr9:132903728

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 1

Criteria Provided
Single Submitter

CA006063

rs_118203647

2 SubmittersRCV000042158 RCV000688704

NM_000368.5(TSC1):c.215T>C (p.Leu72Pro)

SNV
Germline

Chr9:132925735

Likely pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 1

Criteria Provided
Single Submitter

CA006084

rs_118203354

2 SubmittersRCV000042163 RCV005089382

NM_000368.5(TSC1):c.2227C>T (p.Gln743Ter)

SNV
Germline/somatic

Chr9:132902769

Pathogenic

Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 1
Malignant tumor of urinary bladder
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA006160

rs_118203661

10 SubmittersRCV000042172 RCV000414029 RCV001199388 RCV003332093 RCV006287149

NM_000368.5(TSC1):c.2249G>A (p.Trp750Ter)

SNV
Germline

Chr9:132902747

Pathogenic

Tuberous sclerosis syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA006178

rs_118203662

3 SubmittersRCV000042173 RCV000993362

NM_000368.5(TSC1):c.2250G>A (p.Trp750Ter)

SNV
Germline

Chr9:132902746

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 1

Criteria Provided
Single Submitter

CA006184

rs_118203663

2 SubmittersRCV000042174 RCV002513613

NM_000368.5(TSC1):c.2283C>A (p.Tyr761Ter)

SNV
Germline

Chr9:132902713

Pathogenic

Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA006227

rs_118203668

5 SubmittersRCV000042180 RCV000422886 RCV001199389 RCV005502745

NM_000368.5(TSC1):c.2285A>G (p.Asn762Ser)

SNV
Germline

Chr9:132902711

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
not specified
Isolated focal cortical dysplasia type II
Condition: not provided
Tuberous sclerosis 1

Criteria Provided
Conflicting Classifications

CA006241

rs_118203670

21 SubmittersRCV000042182 RCV000130869 RCV000189820 RCV000270998 RCV000713909 RCV001083830

NM_000368.5(TSC1):c.2287C>T (p.Gln763Ter)

SNV
Germline

Chr9:132902709

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 1

Criteria Provided
Single Submitter

CA006248

rs_118203671

2 SubmittersRCV000042183 RCV001223370

NM_000368.5(TSC1):c.2293C>T (p.Gln765Ter)

SNV
Germline

Chr9:132902703

Pathogenic

Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA006259

rs_118203673

4 SubmittersRCV000042185 RCV000523745 RCV001384743

NM_000368.5(TSC1):c.2299C>T (p.Gln767Ter)

SNV
Germline

Chr9:132902697

Pathogenic

Tuberous sclerosis syndrome
TSC1-related disorder
Tuberous sclerosis 1

Criteria Provided
Single Submitter

CA006274

rs_118203675

3 SubmittersRCV000042187 RCV003915004 RCV004795961

NM_000368.5(TSC1):c.2332C>T (p.Gln778Ter)

SNV
Germline

Chr9:132902664

Pathogenic

Tuberous sclerosis syndrome

Criteria Provided
Single Submitter

CA006315

rs_118203679

2 SubmittersRCV000042191

NM_000368.5(TSC1):c.2341C>T (p.Gln781Ter)

SNV
Germline

Chr9:132902655

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA006322

rs_118203680

5 SubmittersRCV000042192 RCV000473593 RCV002426584 RCV002054843

NM_000368.5(TSC1):c.2347C>T (p.Gln783Ter)

SNV
Germline

Chr9:132902649

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA006332

rs_118203681

4 SubmittersRCV000042193 RCV001199390

NM_000368.5(TSC1):c.2356C>T (p.Arg786Ter)

SNV
Germline

Chr9:132902640

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Seizure
Cardiac rhabdomyoma
Hamartoma
Condition: not provided
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis

Criteria Provided
Multiple Submitters
No Conflicts

CA006339

rs_118203682

17 SubmittersRCV000042194 RCV000201048 RCV000491852 RCV000415379 RCV000519452 RCV005042125

NM_000368.5(TSC1):c.2362G>T (p.Glu788Ter)

SNV
Germline

Chr9:132902634

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 1

Criteria Provided
Single Submitter

CA006362

rs_118203685

2 SubmittersRCV000042197 RCV000793708

NM_000368.5(TSC1):c.2401G>T (p.Glu801Ter)

SNV
Germline

Chr9:132901690

Pathogenic

Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA006392

rs_118203687

3 SubmittersRCV000042200 RCV000481095 RCV005089383

NM_000368.5(TSC1):c.2420T>C (p.Ile807Thr)

SNV
Germline

Chr9:132901671

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Tuberous sclerosis 1
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA006415

rs_118203690

5 SubmittersRCV000042203 RCV000642006 RCV002483037 RCV003298084

NM_000368.5(TSC1):c.2497C>T (p.Gln833Ter)

SNV
Germline/somatic

Chr9:132901594

Pathogenic/Likely pathogenic

Tuberous sclerosis syndrome
Malignant tumor of urinary bladder
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA006516

rs_118203700

4 SubmittersRCV000042214 RCV003332094 RCV004998134

NM_000368.5(TSC1):c.2503-2A>G

SNV
Germline

Chr9:132900839

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 1

Criteria Provided
Single Submitter

CA006547

rs_118203704

2 SubmittersRCV000042218 RCV000988273

NM_000368.5(TSC1):c.2507C>G (p.Ser836Ter)

SNV
Germline

Chr9:132900833

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA006565

rs_118203706

4 SubmittersRCV000042220 RCV000796200 RCV001015787

NM_000368.5(TSC1):c.2626-2A>G

SNV
Germline

Chr9:132897612

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA006734

rs_118203717

4 SubmittersRCV000042233 RCV000793960 RCV004700311

NM_000368.5(TSC1):c.2689C>T (p.Gln897Ter)

SNV
Germline

Chr9:132897547

Pathogenic

Tuberous sclerosis syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA006867

rs_118203727

4 SubmittersRCV000042242 RCV000255974 RCV000490863 RCV001797598

NM_000368.5(TSC1):c.2692C>T (p.Gln898Ter)

SNV
Germline

Chr9:132897544

Pathogenic

Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA006876

rs_118203728

4 SubmittersRCV000042243 RCV000491065 RCV000538905

NM_000368.5(TSC1):c.2716C>T (p.Gln906Ter)

SNV
Germline

Chr9:132897520

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA006937

rs_118203732

5 SubmittersRCV000042246 RCV000660339 RCV000627233

NM_000368.5(TSC1):c.272C>A (p.Ser91Ter)

SNV
Germline

Chr9:132925678

Pathogenic

Tuberous sclerosis syndrome

Criteria Provided
Single Submitter

CA006946

rs_118203361

2 SubmittersRCV000042248

NM_000368.5(TSC1):c.2781G>A (p.Lys927=)

SNV
Germline

Chr9:132897455

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA006995

rs_118203733

6 SubmittersRCV000042250 RCV000473022 RCV002256020

NM_000368.5(TSC1):c.2806C>T (p.Gln936Ter)

SNV
Germline

Chr9:132897430

Pathogenic/Likely pathogenic

Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA007024

rs_118203735

6 SubmittersRCV000042253 RCV000760329 RCV001253033

NM_000368.5(TSC1):c.308G>A (p.Trp103Ter)

SNV
Germline

Chr9:132925642

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 1

Criteria Provided
Single Submitter

CA007151

rs_118203364

2 SubmittersRCV000042263 RCV001852866

NM_000368.5(TSC1):c.309G>A (p.Trp103Ter)

SNV
Germline

Chr9:132925641

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA007158

rs_118203365

3 SubmittersRCV000042264 RCV001380988 RCV005502746

NM_000368.5(TSC1):c.3184C>T (p.Arg1062Trp)

SNV
Germline

Chr9:132896546

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
not specified
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Isolated focal cortical dysplasia type II
TSC1-related disorder

Criteria Provided
Conflicting Classifications

CA007223

rs_118203745

14 SubmittersRCV000042266 RCV000189827 RCV000227692 RCV000563572 RCV001093203 RCV001167647 RCV003915005

NM_000368.5(TSC1):c.3322G>A (p.Gly1108Ser)

SNV
Germline

Chr9:132896408

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
not specified
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA007317

rs_118203753

8 SubmittersRCV000042274 RCV000189829 RCV000642032 RCV001019989 RCV004546423

NM_000368.5(TSC1):c.350T>C (p.Leu117Pro)

SNV
Germline

Chr9:132925600

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Tuberous sclerosis 1

Criteria Provided
Conflicting Classifications

CA007394

rs_118203368

3 SubmittersRCV000042278 RCV001068129

NM_000368.5(TSC1):c.363+1G>A

SNV
Germline

Chr9:132925586

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 1

Criteria Provided
Single Submitter

CA007428

rs_118203372

2 SubmittersRCV000042280 RCV000812045

NM_000368.5(TSC1):c.363+1G>T

SNV
Germline

Chr9:132925586

Pathogenic/Likely pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA007434

rs_118203372

3 SubmittersRCV000042281 RCV001378743

NM_000368.5(TSC1):c.364-1G>C

SNV
Germline

Chr9:132923493

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 1

Criteria Provided
Single Submitter

CA007466

rs_118203376

2 SubmittersRCV000042286 RCV001210529

NM_000368.5(TSC1):c.397G>T (p.Val133Phe)

SNV
Germline

Chr9:132923459

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA007570

rs_118203381

3 SubmittersRCV000042291 RCV001214207 RCV006287151

NM_000368.5(TSC1):c.433C>T (p.Gln145Ter)

SNV
Germline

Chr9:132923423

Pathogenic

Tuberous sclerosis syndrome
TSC1-related disorder
Tuberous sclerosis 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA007587

rs_118203382

5 SubmittersRCV000042292 RCV003894875 RCV003505089 RCV006555383

NM_000368.5(TSC1):c.445C>T (p.Gln149Ter)

SNV
Germline

Chr9:132923411

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA007594

rs_118203384

3 SubmittersRCV000042294 RCV000552517

NM_000368.5(TSC1):c.491G>A (p.Trp164Ter)

SNV
Germline

Chr9:132923365

Pathogenic

Tuberous sclerosis syndrome
Lymphangiomyomatosis
Condition: not provided

Criteria Provided
Single Submitter

CA007633

rs_118203387

2 SubmittersRCV000042297 RCV000189835

NM_000368.5(TSC1):c.508+1G>C

SNV
Germline

Chr9:132923347

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA007656

rs_118203390

3 SubmittersRCV000042300 RCV001064764 RCV006255324

NM_000368.5(TSC1):c.509-15G>A

SNV
Germline

Chr9:132921988

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
not specified
Tuberous sclerosis 1

Criteria Provided
Conflicting Classifications

CA007664

rs_118203391

3 SubmittersRCV000042301 RCV000616375 RCV001852867

NM_000368.5(TSC1):c.532G>A (p.Val178Ile)

SNV
Germline

Chr9:132921950

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
not specified
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Condition: not provided
Isolated focal cortical dysplasia type II
TSC1-related disorder
Lymphangiomyomatosis
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA007701

rs_118203395

20 SubmittersRCV000042305 RCV000122198 RCV000164135 RCV000228124 RCV000724965 RCV001165738 RCV003964895 RCV005394249

NM_000368.5(TSC1):c.568C>T (p.Arg190Cys)

SNV
Germline

Chr9:132921914

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Condition: not provided
not specified
TSC1-related disorder

Criteria Provided
Conflicting Classifications

CA007757

rs_118203400

15 SubmittersRCV000042310 RCV000130555 RCV000225932 RCV001703930 RCV001727549 RCV003915006

NM_000368.5(TSC1):c.569G>C (p.Arg190Pro)

SNV
Germline

Chr9:132921913

Likely pathogenic

Tuberous sclerosis syndrome
Condition: not provided

Criteria Provided
Single Submitter

CA007774

rs_118203402

2 SubmittersRCV000042311 RCV000442086

NM_000368.5(TSC1):c.572T>A (p.Leu191His)

SNV
Germline

Chr9:132921910

Pathogenic/Likely pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA007782

rs_118203403

3 SubmittersRCV000042313 RCV001852868 RCV005502747

NM_000368.5(TSC1):c.572T>G (p.Leu191Arg)

SNV
Germline

Chr9:132921910

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 1

Criteria Provided
Single Submitter

CA007790

rs_118203403

2 SubmittersRCV000042314 RCV002266912

NM_000368.5(TSC1):c.585C>A (p.Tyr195Ter)

SNV
Germline

Chr9:132921897

Pathogenic

Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Single Submitter

CA007821

rs_118203407

2 SubmittersRCV000042317 RCV004018919

NM_000368.5(TSC1):c.598G>A (p.Val200Ile)

SNV
Germline

Chr9:132921884

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
not specified
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Hereditary cancer-predisposing syndrome
TSC1-related disorder

Criteria Provided
Conflicting Classifications

CA007868

rs_118203410

8 SubmittersRCV000042320 RCV000441826 RCV000687950 RCV001169731 RCV002258784 RCV003407416

NM_000368.5(TSC1):c.647T>C (p.Phe216Ser)

SNV
Germline

Chr9:132921835

Pathogenic/Likely pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA007933

rs_118203416

3 SubmittersRCV000042326 RCV000641989

NM_000368.5(TSC1):c.663+1G>A

SNV
Germline

Chr9:132921818

Pathogenic/Likely pathogenic

Malignant tumor of urinary bladder
Condition: not provided
Tuberous sclerosis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA007957

rs_118203419

4 SubmittersRCV000042329 RCV000484162 RCV000686448

NM_000368.5(TSC1):c.664-15A>G

SNV
Germline

Chr9:132921451

Pathogenic/Likely pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Clear cell carcinoma of kidney

Criteria Provided
Multiple Submitters
No Conflicts

CA007987

rs_118203422

7 SubmittersRCV000042332 RCV001257304 RCV001659983 RCV002362663 RCV005890296

NM_000368.5(TSC1):c.664-1G>A

SNV
Germline

Chr9:132921437

Pathogenic/Likely pathogenic

Malignant tumor of urinary bladder
Condition: not provided
Tuberous sclerosis 1
Tuberous sclerosis syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA007993

rs_118203423

5 SubmittersRCV000042333 RCV000296063 RCV000819722 RCV006268096

NM_000368.5(TSC1):c.664-1G>C

SNV
Germline

Chr9:132921437

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 1

Criteria Provided
Single Submitter

CA007999

rs_118203423

2 SubmittersRCV000042334 RCV000201068

NM_000368.5(TSC1):c.682C>T (p.Arg228Ter)

SNV
Germline

Chr9:132921418

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 1
Condition: not provided
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA008021

rs_118203427

11 SubmittersRCV000042337 RCV000201126 RCV000189836 RCV000515416 RCV004018920

NM_000368.5(TSC1):c.694G>T (p.Glu232Ter)

SNV
Germline

Chr9:132921406

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA008043

rs_118203429

3 SubmittersRCV000042338 RCV001852869 RCV005600631

NM_000368.5(TSC1):c.733C>T (p.Arg245Ter)

SNV
Germline

Chr9:132921367

Pathogenic/Likely pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 1
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA008088

rs_118203434

16 SubmittersRCV000042345 RCV000201189 RCV000255397 RCV000491872

NM_000368.5(TSC1):c.737+1G>A

SNV
Germline

Chr9:132921362

Pathogenic

Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA008095

rs_118203438

6 SubmittersRCV000042346 RCV000189839 RCV001052124

NM_000368.5(TSC1):c.737+3A>G

SNV
Germline

Chr9:132921360

Pathogenic/Likely pathogenic

Tuberous sclerosis syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA008108

rs_118203439

9 SubmittersRCV000042347 RCV000189840 RCV000561720 RCV000660331

NM_000368.5(TSC1):c.737G>A (p.Arg246Lys)

SNV
Germline

Chr9:132921363

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 1

Criteria Provided
Conflicting Classifications

CA008124

rs_118203436

5 SubmittersRCV000042348 RCV000724695 RCV000821093

NM_000368.5(TSC1):c.738-2A>G

SNV
Germline

Chr9:132912459

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA008143

rs_118203440

4 SubmittersRCV000042351 RCV001221738

NM_000368.5(TSC1):c.749T>G (p.Leu250Ter)

SNV
Germline

Chr9:132912446

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 1

Criteria Provided
Single Submitter

CA008193

rs_118203447

2 SubmittersRCV000042357 RCV006461281

NM_000368.5(TSC1):c.772G>T (p.Glu258Ter)

SNV
Germline

Chr9:132912423

Pathogenic

Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA008208

rs_118203450

4 SubmittersRCV000042361 RCV001008650 RCV001797599

NM_000368.5(TSC1):c.825T>G (p.Tyr275Ter)

SNV
Germline

Chr9:132912370

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 1

Criteria Provided
Single Submitter

CA008254

rs_118203454

2 SubmittersRCV000042365 RCV000542283

NM_000368.5(TSC1):c.838C>T (p.Gln280Ter)

SNV
Germline

Chr9:132912357

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 1

Criteria Provided
Single Submitter

CA008302

rs_118203458

2 SubmittersRCV000042369 RCV005859483

NM_000368.5(TSC1):c.891T>G (p.Tyr297Ter)

SNV
Germline

Chr9:132912304

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis syndrome
Lymphangiomyomatosis
Tuberous sclerosis 1

Criteria Provided
Single Submitter

CA008344

rs_118203461

2 SubmittersRCV000042373 RCV000054984 RCV001852871

NM_000368.5(TSC1):c.901C>T (p.Gln301Ter)

SNV
Germline

Chr9:132912294

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA008364

rs_118203463

4 SubmittersRCV000042374 RCV000703930 RCV005051745

NM_000368.5(TSC1):c.912T>G (p.Tyr304Ter)

SNV
Germline

Chr9:132912283

Likely pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 1

Criteria Provided
Single Submitter

CA008375

rs_118203466

2 SubmittersRCV000042377 RCV003153241

NM_000368.5(TSC1):c.913+1G>A

SNV
Germline

Chr9:132912281

Pathogenic

Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA008382

rs_118203470

5 SubmittersRCV000042379 RCV001090692 RCV001852872

NM_000368.5(TSC1):c.913G>A (p.Gly305Arg)

SNV
Germline

Chr9:132912282

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA008396

rs_118203468

3 SubmittersRCV000042380 RCV000432455 RCV002371859

NM_000368.5(TSC1):c.973C>T (p.Gln325Ter)

SNV
Germline

Chr9:132911509

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA008473

rs_118203474

5 SubmittersRCV000042385 RCV000201208 RCV000255408

NM_000548.5(TSC2):c.1029C>T (p.Thr343=)

SNV
Germline

Chr16:2060723

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA013612

rs_45468201

3 SubmittersRCV000042392 RCV003764714

NM_000548.5(TSC2):c.1085T>C (p.Leu362Pro)

SNV
Germline

Chr16:2060779

Pathogenic/Likely pathogenic

Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA013704

rs_137854345

3 SubmittersRCV000042395 RCV000413741 RCV001065226

NM_000548.5(TSC2):c.1111C>T (p.Gln371Ter)

SNV
Germline

Chr16:2060805

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA013813

rs_45469099

4 SubmittersRCV000042397 RCV000644081 RCV000760655

NM_000548.5(TSC2):c.1372C>T (p.Arg458Ter)

SNV
Germline

Chr16:2062982

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided
Lymphangiomyomatosis
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA014613

rs_45517169

12 SubmittersRCV000042408 RCV000201131 RCV000441085 RCV004798759 RCV004943735 RCV004795963

NM_000548.5(TSC2):c.138+2T>C

SNV
Germline

Chr16:2048755

Pathogenic

Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA014657

rs_137854226

4 SubmittersRCV000042410 RCV000518195 RCV001852874

NM_000548.5(TSC2):c.1440T>G (p.Tyr480Ter)

SNV
Germline

Chr16:2063050

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA014804

rs_45514794

2 SubmittersRCV000042414 RCV005620895

NM_000548.5(TSC2):c.1477C>G (p.Leu493Val)

SNV
Germline

Chr16:2064305

Likely pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA014935

rs_45517177

3 SubmittersRCV000042417 RCV001056606 RCV003162356

NM_000548.5(TSC2):c.1778A>G (p.His593Arg)

SNV
Germline

Chr16:2070517

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA015696

rs_45517198

5 SubmittersRCV000042429 RCV001298722 RCV001565367

NM_000548.5(TSC2):c.1783C>T (p.Gln595Ter)

SNV
Germline

Chr16:2070522

Pathogenic

Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA015705

rs_45517199

4 SubmittersRCV000042430 RCV000993366 RCV003511983

NM_000548.5(TSC2):c.1792T>C (p.Tyr598His)

SNV
Germline

Chr16:2070531

Likely pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA015786

rs_45517201

3 SubmittersRCV000042431 RCV001852875

NM_000548.5(TSC2):c.1831C>G (p.Arg611Gly)

SNV
Germline

Chr16:2070570

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA015905

rs_45469298

3 SubmittersRCV000042433 RCV001388105

NM_000548.5(TSC2):c.1860G>A (p.Leu620=)

SNV
Germline

Chr16:2071530

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis 2
TSC2-related disorder

Criteria Provided
Conflicting Classifications

CA016057

rs_45492397

13 SubmittersRCV000042436 RCV000125656 RCV000570009 RCV000726515 RCV001084136 RCV004528235

NM_000548.5(TSC2):c.2095C>T (p.Gln699Ter)

SNV
Germline

Chr16:2071932

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA016676

rs_45517210

3 SubmittersRCV000042447 RCV001852876 RCV003231112

NM_000548.5(TSC2):c.2221-1G>C

SNV
Germline

Chr16:2072848

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 1
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA016978

rs_45517218

3 SubmittersRCV000042454 RCV004783731 RCV005255559

NM_000548.5(TSC2):c.2225C>G (p.Ser742Ter)

SNV
Germline

Chr16:2072853

Pathogenic

Tuberous sclerosis syndrome
Condition: not provided
TSC2-related disorder

Criteria Provided
Single Submitter

CA017007

rs_45517220

3 SubmittersRCV000042456 RCV004700312 RCV004541218

NM_000548.5(TSC2):c.226-2A>G

SNV
Germline

Chr16:2053340

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA017124

rs_45517096

2 SubmittersRCV000042457 RCV000201113

NM_000548.5(TSC2):c.2356-1G>A

SNV
Germline

Chr16:2074199

Pathogenic

Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA017248

rs_45481704

5 SubmittersRCV000042462 RCV000520834 RCV001250498 RCV002444496

NM_000548.5(TSC2):c.2356-2A>C

SNV
Germline

Chr16:2074198

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA017255

rs_45517229

2 SubmittersRCV000042463 RCV000201046

NM_000548.5(TSC2):c.2407C>T (p.Gln803Ter)

SNV
Germline

Chr16:2074251

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA017379

rs_45517234

2 SubmittersRCV000042465 RCV001202863

NM_000548.5(TSC2):c.2440G>A (p.Glu814Lys)

SNV
Germline

Chr16:2074284

Likely pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA017424

rs_45485395

2 SubmittersRCV000042467 RCV006461282

NM_000548.5(TSC2):c.251C>T (p.Ala84Val)

SNV
Germline

Chr16:2053367

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Tuberous sclerosis syndrome
Lymphangiomyomatosis
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
not specified
Sarcoma

Criteria Provided
Conflicting Classifications

CA017545

rs_35660529

16 SubmittersRCV000042470 RCV000055051 RCV000589638 RCV000575144 RCV001084150 RCV001729369 RCV005890297

NM_000548.5(TSC2):c.2661T>A (p.Cys887Ter)

SNV
Germline

Chr16:2076089

Pathogenic

Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA017829

rs_45475594

3 SubmittersRCV000042480 RCV003114222 RCV006461283

NM_000548.5(TSC2):c.2798T>G (p.Phe933Cys)

SNV
Germline

Chr16:2076546

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
TSC2-related disorder
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis

Criteria Provided
Conflicting Classifications

CA018204

rs_45517269

7 SubmittersRCV000042492 RCV000556585 RCV002433524 RCV004734592 RCV005016328

NM_000548.5(TSC2):c.2887G>A (p.Val963Met)

SNV
Germline

Chr16:2077647

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA018311

rs_45517275

11 SubmittersRCV000042494 RCV000460965 RCV001016860 RCV001563228 RCV002271386

NM_000548.5(TSC2):c.2974C>T (p.Gln992Ter)

SNV
Germline

Chr16:2079039

Pathogenic

Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA018343

rs_45438592

4 SubmittersRCV000042495 RCV002433525 RCV006461284

NM_000548.5(TSC2):c.3094C>T (p.Arg1032Ter)

SNV
Germline

Chr16:2079159

Pathogenic

Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
TSC2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA018490

rs_45465195

11 SubmittersRCV000042499 RCV000404065 RCV000462671 RCV002483039 RCV004537161

NM_000548.5(TSC2):c.3095G>C (p.Arg1032Pro)

SNV
Germline

Chr16:2079160

Pathogenic/Likely pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA018497

rs_45491698

7 SubmittersRCV000042500 RCV000201071 RCV005255560

NM_000548.5(TSC2):c.3131+1G>A

SNV
Germline

Chr16:2079197

Pathogenic

Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA018580

rs_45506401

5 SubmittersRCV000042503 RCV000520072 RCV001063941 RCV004795964

NM_000548.5(TSC2):c.3132-1G>C

SNV
Germline

Chr16:2079275

Likely pathogenic

Tuberous sclerosis syndrome
Condition: not provided
Lung cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA018622

rs_45443096

5 SubmittersRCV000042504 RCV001536134 RCV005890301

NM_000548.5(TSC2):c.3212C>G (p.Thr1071Arg)

SNV
Germline

Chr16:2079356

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA018689

rs_45498892

2 SubmittersRCV000042506 RCV002513616

NM_000548.5(TSC2):c.3252C>G (p.Asp1084Glu)

SNV
Germline

Chr16:2079396

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA018744

rs_45517286

4 SubmittersRCV000042507 RCV000229678 RCV003343620

NM_000548.5(TSC2):c.3343C>T (p.Gln1115Ter)

SNV
Germline

Chr16:2079615

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2
TSC2-related disorder

Criteria Provided
Single Submitter

CA018915

rs_137854253

3 SubmittersRCV000042511 RCV000801625 RCV004537162

NM_000548.5(TSC2):c.337-1G>T

SNV
Germline

Chr16:2054295

Pathogenic

Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA019020

rs_45517105

3 SubmittersRCV000042512 RCV002453337 RCV005089386

NM_000548.5(TSC2):c.3397+1G>A

SNV
Germline

Chr16:2079670

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA019073

rs_137854208

5 SubmittersRCV000042515 RCV001225613 RCV002490589 RCV005620338

NM_000548.5(TSC2):c.3412C>T (p.Arg1138Ter)

SNV
Germline

Chr16:2080179

Pathogenic

Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA019122

rs_45451497

11 SubmittersRCV000042516 RCV000190075 RCV000201090 RCV000491678 RCV002483040

NM_000548.5(TSC2):c.3430G>T (p.Val1144Leu)

SNV
Germline

Chr16:2080197

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA019160

rs_45517294

4 SubmittersRCV000042518 RCV001020293 RCV001057920

NM_000548.5(TSC2):c.3532C>T (p.Gln1178Ter)

SNV
Germline

Chr16:2080299

Pathogenic

Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA019253

rs_45517297

4 SubmittersRCV000042522 RCV000481829 RCV000694582

NM_000548.5(TSC2):c.3610+1G>A

SNV
Germline

Chr16:2080378

Pathogenic

Tuberous sclerosis syndrome
Lymphangiomyomatosis
Tuberous sclerosis 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA019341

rs_45517299

7 SubmittersRCV000042523 RCV000055354 RCV001045249 RCV001508402

NM_000548.5(TSC2):c.3610+6G>A

SNV
Germline

Chr16:2080383

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
not specified
Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Intellectual disability

Criteria Provided
Conflicting Classifications

CA019357

rs_45517301

21 SubmittersRCV000042525 RCV000125673 RCV000726033 RCV001081073 RCV002255266 RCV005625246

NM_000548.5(TSC2):c.3611-9C>T

SNV
Germline

Chr16:2081586

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA019379

rs_45517304

4 SubmittersRCV000042526 RCV000529964 RCV004998135

NM_000548.5(TSC2):c.3662C>A (p.Ser1221Ter)

SNV
Germline

Chr16:2081646

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA019446

rs_45517305

2 SubmittersRCV000042528 RCV000543360

NM_000548.5(TSC2):c.3685C>T (p.Gln1229Ter)

SNV
Germline

Chr16:2081669

Pathogenic

Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA019470

rs_45517306

6 SubmittersRCV000042529 RCV000760363 RCV001036695

NM_000548.5(TSC2):c.3723C>T (p.Phe1241=)

SNV
Germline

Chr16:2081707

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA019510

rs_45486193

15 SubmittersRCV000042530 RCV000163886 RCV000713929 RCV001082224

NM_000548.5(TSC2):c.4023C>A (p.Ser1341Arg)

SNV
Germline

Chr16:2084245

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
TSC2-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA019836

rs_45462593

10 SubmittersRCV000042541 RCV000457664 RCV001703933 RCV002354223 RCV004537163 RCV006258941

NM_000548.5(TSC2):c.4290G>A (p.Trp1430Ter)

SNV
Germline

Chr16:2084512

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA020204

rs_45517334

2 SubmittersRCV000042550 RCV002513618

NM_000548.5(TSC2):c.4349C>G (p.Pro1450Arg)

SNV
Germline

Chr16:2084571

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA020293

rs_45517338

9 SubmittersRCV000042552 RCV000562910 RCV000713934 RCV001079491

NM_000548.5(TSC2):c.4355C>A (p.Ser1452Ter)

SNV
Germline

Chr16:2084577

Pathogenic

Tuberous sclerosis syndrome
Condition: not provided

Criteria Provided
Single Submitter

CA020316

rs_45517339

2 SubmittersRCV000042553 RCV002273945

NM_000548.5(TSC2):c.4507C>T (p.Gln1503Ter)

SNV
Germline

Chr16:2084964

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided
Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA020569

rs_45517348

9 SubmittersRCV000042560 RCV000553662 RCV000627231 RCV002477138 RCV003380406

NM_000548.5(TSC2):c.4573C>T (p.Gln1525Ter)

SNV
Germline

Chr16:2085233

Pathogenic

Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA020707

rs_45517352

5 SubmittersRCV000042565 RCV000190034 RCV001042432

NM_000548.5(TSC2):c.4663-1G>A

SNV
Germline

Chr16:2086192

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA020864

rs_45517358

2 SubmittersRCV000042572 RCV001388268

NM_000548.5(TSC2):c.4727C>T (p.Thr1576Met)

SNV
Germline

Chr16:2086257

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
TSC2-related disorder

Criteria Provided
Conflicting Classifications

CA020954

rs_45437192

9 SubmittersRCV000042577 RCV000545050 RCV001022958 RCV001697037 RCV004734593

NM_000548.5(TSC2):c.478C>G (p.Leu160Val)

SNV
Germline

Chr16:2054437

Likely pathogenic

Tuberous sclerosis syndrome
Condition: not provided

Criteria Provided
Single Submitter

CA021005

rs_45517109

2 SubmittersRCV000042579 RCV000518124

NM_000548.5(TSC2):c.4790T>C (p.Leu1597Pro)

SNV
Germline

Chr16:2086320

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA021009

rs_45517370

2 SubmittersRCV000042580 RCV005089387

NM_000548.5(TSC2):c.481+1G>T

SNV
Germline

Chr16:2054441

Pathogenic

Tuberous sclerosis syndrome

Criteria Provided
Single Submitter

CA021010

rs_45488500

2 SubmittersRCV000042581

NM_000548.5(TSC2):c.4829G>A (p.Trp1610Ter)

SNV
Germline

Chr16:2086359

Pathogenic

Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA021071

rs_45517371

3 SubmittersRCV000042583 RCV000268236 RCV002513619

NM_000548.5(TSC2):c.4846C>T (p.Gln1616Ter)

SNV
Germline

Chr16:2086376

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided
Thyroid cancer, nonmedullary, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA021087

rs_45455296

8 SubmittersRCV000042586 RCV000470698 RCV001091866 RCV005890309

NM_000548.5(TSC2):c.4858C>T (p.His1620Tyr)

SNV
Germline

Chr16:2086740

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2
TSC2-related disorder
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA021147

rs_45446901

4 SubmittersRCV000042587 RCV001383217 RCV004724772 RCV005502749

NM_000548.5(TSC2):c.4911G>A (p.Lys1637=)

SNV
Germline

Chr16:2086793

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
not specified
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis

Criteria Provided
Conflicting Classifications

CA021233

rs_35282988

18 SubmittersRCV000042591 RCV000125693 RCV000163430 RCV000227843 RCV001579733 RCV005394252

NM_000548.5(TSC2):c.4918C>T (p.His1640Tyr)

SNV
Germline

Chr16:2086800

Pathogenic/Likely pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA021270

rs_45485092

5 SubmittersRCV000042593 RCV001042053

NM_000548.5(TSC2):c.4949A>G (p.Tyr1650Cys)

SNV
Germline/somatic

Chr16:2086831

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Everolimus response
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA021378

rs_45501091

4 SubmittersRCV000042594 RCV000590964 RCV002336158 RCV006461286

NM_000548.5(TSC2):c.4952A>G (p.Asn1651Ser)

SNV
Germline

Chr16:2086834

Pathogenic

Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA021383

rs_45517382

8 SubmittersRCV000042595 RCV000359328 RCV000543686 RCV002336159

NM_000548.5(TSC2):c.4958C>T (p.Ser1653Phe)

SNV
Germline

Chr16:2086840

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA021398

rs_45517383

4 SubmittersRCV000042596 RCV001242240 RCV006277681

NM_000548.5(TSC2):c.4993C>T (p.Gln1665Ter)

SNV
Germline

Chr16:2087866

Pathogenic

Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA021488

rs_45448101

5 SubmittersRCV000042600 RCV000302325 RCV001048099

NM_000548.5(TSC2):c.5043C>G (p.Asn1681Lys)

SNV
Germline

Chr16:2087916

Pathogenic

Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Single Submitter

CA021576

rs_45476793

2 SubmittersRCV000042602 RCV003298086

NM_000548.5(TSC2):c.5050T>C (p.Ser1684Pro)

SNV
Germline

Chr16:2087923

Likely pathogenic

Tuberous sclerosis syndrome
Condition: not provided

Criteria Provided
Single Submitter

CA021580

rs_45517387

2 SubmittersRCV000042603 RCV004998136

NM_000548.5(TSC2):c.5068G>T (p.Asp1690Tyr)

SNV
Germline

Chr16:2087941

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA021630

rs_137854882

2 SubmittersRCV000042604 RCV000553605

NM_000548.5(TSC2):c.5069-18A>G

SNV
Germline

Chr16:2088030

Pathogenic/Likely pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA021636

rs_45484794

3 SubmittersRCV000042605 RCV001068320

NM_000548.5(TSC2):c.5110T>A (p.Ser1704Thr)

SNV
Germline

Chr16:2088089

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA021746

rs_45474691

6 SubmittersRCV000042608 RCV000441153 RCV000565772 RCV001079156

NM_000548.5(TSC2):c.5126C>G (p.Pro1709Arg)

SNV
Germline

Chr16:2088105

Pathogenic

Tuberous sclerosis syndrome
Condition: not provided

Criteria Provided
Single Submitter

CA021789

rs_45517393

2 SubmittersRCV000042610 RCV000517378

NM_000548.5(TSC2):c.5140C>T (p.Gln1714Ter)

SNV
Germline

Chr16:2088119

Pathogenic

Tuberous sclerosis syndrome
not specified
Tuberous sclerosis 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA021852

rs_45517396

5 SubmittersRCV000042611 RCV000506833 RCV000793317 RCV006258942

NM_000548.5(TSC2):c.5150T>C (p.Leu1717Pro)

SNV
Germline

Chr16:2088129

Likely pathogenic

Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA021894

rs_45517398

4 SubmittersRCV000042612 RCV000190040 RCV001797601

NM_000548.5(TSC2):c.5219G>A (p.Trp1740Ter)

SNV
Germline

Chr16:2088285

Pathogenic

Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA022169

rs_137854219

3 SubmittersRCV000042622 RCV000388680 RCV001852882

NM_000548.5(TSC2):c.5220G>A (p.Trp1740Ter)

SNV
Germline

Chr16:2088286

Pathogenic

Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA022177

rs_45517411

5 SubmittersRCV000042623 RCV000493371 RCV000802438

NM_000548.5(TSC2):c.5254C>T (p.Gln1752Ter)

SNV
Germline

Chr16:2088320

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Lymphangiomyomatosis

Criteria Provided
Conflicting Classifications

CA022307

rs_45517414

8 SubmittersRCV000042627 RCV000271618 RCV001797602 RCV002313736 RCV005394253

NM_000548.5(TSC2):c.593T>C (p.Met198Thr)

SNV
Germline

Chr16:2055513

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
not specified
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA022610

rs_45517114

7 SubmittersRCV000042635 RCV000455251 RCV001370970 RCV004018921

NM_000548.5(TSC2):c.598C>T (p.Gln200Ter)

SNV
Germline

Chr16:2055518

Pathogenic

Tuberous sclerosis syndrome

Criteria Provided
Single Submitter

CA022625

rs_45517115

2 SubmittersRCV000042636

NM_000548.5(TSC2):c.599+1G>A

SNV
Germline

Chr16:2055520

Pathogenic/Likely pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA022627

rs_45460895

4 SubmittersRCV000042637 RCV002513622 RCV005502750

NM_000548.5(TSC2):c.646G>A (p.Glu216Lys)

SNV
Germline

Chr16:2056242

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Condition: not provided

Criteria Provided
Conflicting Classifications

CA022720

rs_45517118

10 SubmittersRCV000042639 RCV000644252 RCV002490591 RCV002354224 RCV003466894 RCV004998137

NM_000548.5(TSC2):c.646G>T (p.Glu216Ter)

SNV
Germline

Chr16:2056242

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA022725

rs_45517118

2 SubmittersRCV000042640 RCV000201082

NM_000548.5(TSC2):c.736A>G (p.Thr246Ala)

SNV
Germline

Chr16:2056731

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Tuberous sclerosis 2
not specified
Condition: not provided
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA022910

rs_137854123

9 SubmittersRCV000042644 RCV000554931 RCV000612409 RCV002288539 RCV002381326 RCV003460556

NM_000548.5(TSC2):c.774+2T>A

SNV
Germline

Chr16:2056771

Pathogenic

Tuberous sclerosis syndrome
Condition: not provided

Criteria Provided
Single Submitter

CA022955

rs_45517129

2 SubmittersRCV000042645 RCV002307378

NM_000548.5(TSC2):c.849-1G>A

SNV
Germline

Chr16:2058746

Pathogenic/Likely pathogenic

Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA023038

rs_45506396

5 SubmittersRCV000042648 RCV000439973 RCV001039254 RCV002444497

NM_000548.5(TSC2):c.976-15G>A

SNV
Germline

Chr16:2060655

Pathogenic/Likely pathogenic

Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
TSC2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA023219

rs_45517150

10 SubmittersRCV000042656 RCV000189971 RCV000465503 RCV002483043 RCV004537165

NM_000548.5(TSC2):c.976-1G>A

SNV
Germline

Chr16:2060669

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA023222

rs_45451199

2 SubmittersRCV000042657 RCV000644206

NM_000548.5(TSC2):c.880G>A (p.Gly294Arg)

SNV
Germline

Chr16:2058778

Pathogenic

Lymphangiomyomatosis
Tuberous sclerosis syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA023075

rs_45517139

3 SubmittersRCV000042662 RCV002513623 RCV003333730

NM_000548.5(TSC2):c.911G>A (p.Trp304Ter)

SNV
Germline

Chr16:2058809

Pathogenic

Tuberous sclerosis syndrome
Condition: not provided
TSC2-related disorder
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA023109

rs_45517140

4 SubmittersRCV000042665 RCV003150939 RCV004537166 RCV005089389

NM_000548.5(TSC2):c.648+1G>A

SNV
Germline

Chr16:2056245

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA022731

rs_45488893

5 SubmittersRCV000042670 RCV000201164

NM_000548.5(TSC2):c.658C>T (p.Gln220Ter)

SNV
Germline

Chr16:2056653

Pathogenic

Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA022760

rs_45517119

6 SubmittersRCV000042671 RCV000520962 RCV000699187

NM_000548.5(TSC2):c.5160+1G>A

SNV
Germline

Chr16:2088140

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis

Criteria Provided
Multiple Submitters
No Conflicts

CA021915

rs_45517399

7 SubmittersRCV000042685 RCV000201137 RCV000485999 RCV002496673

NM_000548.5(TSC2):c.5160+1G>T

SNV
Germline

Chr16:2088140

Pathogenic/Likely pathogenic

Tuberous sclerosis syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA021925

rs_45517399

3 SubmittersRCV000042687 RCV000441636 RCV005502752

NM_000548.5(TSC2):c.5160+5G>A

SNV
Germline

Chr16:2088144

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA021966

rs_45515392

2 SubmittersRCV000042689 RCV001852885

NM_000548.5(TSC2):c.5034C>A (p.Tyr1678Ter)

SNV
Germline

Chr16:2087907

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA021559

rs_45467993

2 SubmittersRCV000042697 RCV001852886

NM_000548.5(TSC2):c.5056C>T (p.Gln1686Ter)

SNV
Germline

Chr16:2087929

Pathogenic

Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA021591

rs_45517388

5 SubmittersRCV000042700 RCV000713942 RCV003326118

NM_000548.5(TSC2):c.5065A>G (p.Lys1689Glu)

SNV
Germline

Chr16:2087938

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA021601

rs_137854315

4 SubmittersRCV000042701 RCV000822377 RCV002336160 RCV004998139

NM_000548.5(TSC2):c.5068+9G>A

SNV
Germline

Chr16:2087950

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
not specified
Condition: not provided
Tuberous sclerosis 2
Uterine corpus endometrial carcinoma
Cholangiocarcinoma

Criteria Provided
Conflicting Classifications

CA021623

rs_45445593

11 SubmittersRCV000042702 RCV000177971 RCV000724754 RCV001079713 RCV005890311 RCV005890310

NM_000548.5(TSC2):c.5068G>C (p.Asp1690His)

SNV
Germline

Chr16:2087941

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA021629

rs_137854882

2 SubmittersRCV000042703 RCV003626600

NM_000548.5(TSC2):c.5208C>A (p.Tyr1736Ter)

SNV
Germline

Chr16:2088274

Pathogenic

Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Single Submitter

CA022148

rs_45517410

2 SubmittersRCV001781366 RCV000042713

NM_000548.5(TSC2):c.4943T>C (p.Ile1648Thr)

SNV
Germline

Chr16:2086825

Pathogenic/Likely pathogenic

Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA021368

rs_45471896

5 SubmittersRCV000042718 RCV001557106 RCV002514167 RCV003224798

NM_000548.5(TSC2):c.4783G>A (p.Gly1595Arg)

SNV
Germline

Chr16:2086313

Likely pathogenic

Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA021000

rs_45517369

4 SubmittersRCV000042724 RCV001508405 RCV001852888 RCV003162357

NM_000548.5(TSC2):c.4989+1G>A

SNV
Germline

Chr16:2086872

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA021454

rs_45517386

5 SubmittersRCV000042728 RCV000201203

NM_000548.5(TSC2):c.5227C>T (p.Arg1743Trp)

SNV
Germline/somatic

Chr16:2088293

Pathogenic

Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
TSC2-related disorder
Subependymal giant-cell astrocytoma

Criteria Provided
Multiple Submitters
No Conflicts

CA022213

rs_45517412

16 SubmittersRCV000042731 RCV000190076 RCV000201065 RCV000491169 RCV000763368 RCV004537168 RCV006253750

NM_000548.5(TSC2):c.4579T>C (p.Phe1527Leu)

SNV
Germline

Chr16:2085239

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
TSC2-related disorder

Criteria Provided
Conflicting Classifications

CA020719

rs_45514391

8 SubmittersRCV000042733 RCV000644318 RCV001022730 RCV001697067 RCV004537169

NM_000548.5(TSC2):c.4606C>T (p.Gln1536Ter)

SNV
Germline

Chr16:2085266

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA020763

rs_45495796

2 SubmittersRCV000042735 RCV005089390

NM_000548.5(TSC2):c.4620C>A (p.Tyr1540Ter)

SNV
Germline

Chr16:2085280

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA020767

rs_45455897

3 SubmittersRCV000042736 RCV001831715

NM_000548.5(TSC2):c.4646A>G (p.Tyr1549Cys)

SNV
Germline/somatic

Chr16:2085306

Pathogenic/Likely pathogenic

Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2
Subependymal giant-cell astrocytoma

Criteria Provided
Multiple Submitters
No Conflicts

CA020809

rs_45517355

5 SubmittersRCV000042739 RCV000412893 RCV001036250 RCV006253751

NM_000548.5(TSC2):c.4662G>A (p.Gln1554=)

SNV
Germline

Chr16:2085322

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA020851

rs_137854880

3 SubmittersRCV000042745 RCV001224625

NM_000548.5(TSC2):c.4662G>T (p.Gln1554His)

SNV
Germline

Chr16:2085322

Pathogenic/Likely pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA020857

rs_137854880

3 SubmittersRCV000042746 RCV001232925

NM_000548.5(TSC2):c.4489C>A (p.Pro1497Thr)

SNV
Germline

Chr16:2084711

Pathogenic/Likely pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA020509

rs_45517344

5 SubmittersRCV000042750 RCV001852889 RCV003441731

NM_000548.5(TSC2):c.4490C>G (p.Pro1497Arg)

SNV
Germline

Chr16:2084712

Pathogenic

Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA020517

rs_45497997

3 SubmittersRCV000042751 RCV002326760 RCV003511986

NM_000548.5(TSC2):c.4494-1G>A

SNV
Germline

Chr16:2084950

Likely pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA020543

rs_45517346

2 SubmittersRCV000042752 RCV000660348

NM_000548.5(TSC2):c.4138C>T (p.Gln1380Ter)

SNV
Germline

Chr16:2084360

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Tuberous sclerosis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA019994

rs_137854045

4 SubmittersRCV000042757 RCV001062658 RCV005644497

NM_000548.5(TSC2):c.4509G>T (p.Gln1503His)

SNV
Germline

Chr16:2084966

Likely pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA020576

rs_45517349

2 SubmittersRCV000042758 RCV002250506

NM_000548.5(TSC2):c.3884-17C>G

SNV
Germline

Chr16:2083678

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis 2
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA019629

rs_45517317

13 SubmittersRCV000042773 RCV000125680 RCV000210793 RCV001579953 RCV001797604 RCV005890312

NM_000548.5(TSC2):c.3884-2A>T

SNV
Germline

Chr16:2083693

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA019641

rs_137854053

2 SubmittersRCV000042775 RCV003626601

NM_000548.5(TSC2):c.4298C>A (p.Ser1433Ter)

SNV
Germline

Chr16:2084520

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA020214

rs_45517335

2 SubmittersRCV000042776 RCV001070626

NM_000548.5(TSC2):c.4712A>G (p.Tyr1571Cys)

SNV
Germline

Chr16:2086242

Likely pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA020940

rs_45478894

2 SubmittersRCV000042778 RCV001852890

NM_000548.5(TSC2):c.3956A>T (p.Asp1319Val)

SNV
Germline

Chr16:2083767

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA019742

rs_45517322

6 SubmittersRCV000042782 RCV000541237 RCV000764029 RCV001021518

NM_000548.5(TSC2):c.4318C>T (p.Gln1440Ter)

SNV
Germline

Chr16:2084540

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA020269

rs_45517337

6 SubmittersRCV000042784 RCV000201035 RCV000521569

NM_000548.5(TSC2):c.3610G>A (p.Gly1204Arg)

SNV
Germline

Chr16:2080377

Likely pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA019365

rs_1555511663

3 SubmittersRCV000042787 RCV000660346 RCV004760356

NM_000548.5(TSC2):c.3622T>G (p.Trp1208Gly)

SNV
Germline

Chr16:2081606

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
not specified
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA019409

rs_45482795

4 SubmittersRCV000042789 RCV000254034 RCV001069687

NM_000548.5(TSC2):c.4044C>T (p.His1348=)

SNV
Germline

Chr16:2084266

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
not specified
Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
TSC2-related disorder

Criteria Provided
Conflicting Classifications

CA019871

rs_137854084

12 SubmittersRCV000042797 RCV000607727 RCV000731867 RCV001086992 RCV002256025 RCV004537170

NM_000548.5(TSC2):c.3082G>A (p.Asp1028Asn)

SNV
Germline

Chr16:2079147

Likely pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA018473

rs_45517280

2 SubmittersRCV000042807 RCV005089391

NM_000548.5(TSC2):c.3750C>A (p.Tyr1250Ter)

SNV
Germline

Chr16:2081734

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA019518

rs_45517308

2 SubmittersRCV000042809 RCV000810322

NM_000548.5(TSC2):c.3750C>G (p.Tyr1250Ter)

SNV
Germline

Chr16:2081734

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA019521

rs_45517308

5 SubmittersRCV000042810 RCV002266913

NM_000548.5(TSC2):c.3429C>T (p.Asp1143=)

SNV
Germline

Chr16:2080196

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA019149

rs_45487691

13 SubmittersRCV000042813 RCV000163685 RCV000228389 RCV001171694 RCV005434620

NM_000548.5(TSC2):c.4096G>T (p.Glu1366Ter)

SNV
Germline

Chr16:2084318

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA019945

rs_45517327

4 SubmittersRCV000042815 RCV000201169 RCV000760364

NM_000548.5(TSC2):c.4105C>T (p.Arg1369Trp)

SNV
Germline

Chr16:2084327

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis 2
not specified
TSC2-related disorder

Criteria Provided
Conflicting Classifications

CA019949

rs_45517328

18 SubmittersRCV000042816 RCV000565844 RCV000726579 RCV001082851 RCV003488361 RCV004541222

NM_000548.5(TSC2):c.2743-1G>A

SNV
Germline

Chr16:2076490

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA018023

rs_45517263

4 SubmittersRCV000042820 RCV000701173 RCV002433526 RCV005222728

NM_000548.5(TSC2):c.2743-1G>C

SNV
Germline

Chr16:2076490

Pathogenic

Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA018028

rs_45517263

3 SubmittersRCV000042821 RCV001569044 RCV002288540

NM_000548.5(TSC2):c.3140T>C (p.Val1047Ala)

SNV
Germline

Chr16:2079284

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis 2
TSC2-related disorder

Criteria Provided
Conflicting Classifications

CA018645

rs_45517284

15 SubmittersRCV000042825 RCV000122221 RCV000163970 RCV000727358 RCV001086743 RCV004541223

NM_000548.5(TSC2):c.2546-1G>A

SNV
Germline

Chr16:2075798

Pathogenic

Tuberous sclerosis syndrome
Condition: not provided

Criteria Provided
Single Submitter

CA017640

rs_45468292

2 SubmittersRCV000042829 RCV000523003

NM_000548.5(TSC2):c.2546-1G>C

SNV
Germline

Chr16:2075798

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA017646

rs_45468292

2 SubmittersRCV000042830 RCV000812597

NM_000548.5(TSC2):c.3509C>G (p.Ser1170Ter)

SNV
Germline

Chr16:2080276

Pathogenic

Tuberous sclerosis syndrome

Criteria Provided
Single Submitter

CA019240

rs_45517296

2 SubmittersRCV000042839

NM_000548.5(TSC2):c.2647C>T (p.Gln883Ter)

SNV
Germline

Chr16:2076075

Pathogenic/Likely pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA017805

rs_45476100

6 SubmittersRCV000042841 RCV001252981 RCV002255124

NM_000548.5(TSC2):c.2380C>T (p.Gln794Ter)

SNV
Germline

Chr16:2074224

Pathogenic

Tuberous sclerosis syndrome
Condition: not provided

Criteria Provided
Single Submitter

CA017333

rs_45517233

2 SubmittersRCV000042844 RCV002288541

NM_000548.5(TSC2):c.2666C>T (p.Ala889Val)

SNV
Germline

Chr16:2076094

Pathogenic/Likely pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA017841

rs_137854155

5 SubmittersRCV000042847 RCV000201152 RCV002433527

NM_000548.5(TSC2):c.2423T>C (p.Leu808Ser)

SNV
Germline

Chr16:2074267

Likely pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA017395

rs_45489791

2 SubmittersRCV000042848 RCV001250499

NM_000548.5(TSC2):c.3265C>T (p.Gln1089Ter)

SNV
Germline

Chr16:2079409

Pathogenic

Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA018787

rs_45517288

3 SubmittersRCV000042850 RCV003231113 RCV003511987

NM_000548.5(TSC2):c.2690T>C (p.Phe897Ser)

SNV
Germline

Chr16:2076118

Pathogenic

Tuberous sclerosis syndrome
Condition: not provided

Criteria Provided
Single Submitter

CA017895

rs_45517255

2 SubmittersRCV000042856 RCV000336828

NM_000548.5(TSC2):c.2153G>C (p.Arg718Pro)

SNV
Germline

Chr16:2072296

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided
TSC2-related disorder
not specified
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA016844

rs_45517215

13 SubmittersRCV000042858 RCV000129683 RCV000227547 RCV001703935 RCV004734595 RCV004998140 RCV005394257

NM_000548.5(TSC2):c.2210T>C (p.Leu737Pro)

SNV
Germline

Chr16:2072353

Likely pathogenic

Tuberous sclerosis syndrome
Condition: not provided

Criteria Provided
Single Submitter

CA016935

rs_45464093

2 SubmittersRCV000042862 RCV004998141

NM_000548.5(TSC2):c.1882C>G (p.Arg628Gly)

SNV
Germline

Chr16:2071552

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA016143

rs_45437797

8 SubmittersRCV000042864 RCV000707631 RCV001013512 RCV003151740 RCV005237465 RCV005016330

NM_000548.5(TSC2):c.1717-1G>A

SNV
Germline

Chr16:2070455

Pathogenic/Likely pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA015534

rs_45517192

3 SubmittersRCV000042880 RCV002266914

NM_000548.5(TSC2):c.1790A>G (p.His597Arg)

SNV
Germline

Chr16:2070529

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA015754

rs_137854322

3 SubmittersRCV000042891 RCV002513625

NM_000548.5(TSC2):c.2083C>T (p.Gln695Ter)

SNV
Germline

Chr16:2071920

Pathogenic

Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA016621

rs_45517209

3 SubmittersRCV000042894 RCV002253206 RCV001852892

NM_000548.5(TSC2):c.1444-2A>G

SNV
Germline

Chr16:2064270

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA014879

rs_45517174

4 SubmittersRCV000042895 RCV000201016 RCV000498319

NM_000548.5(TSC2):c.1479C>T (p.Leu493=)

SNV
Germline

Chr16:2064307

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA014952

rs_137854145

8 SubmittersRCV000042897 RCV000456547 RCV001011795 RCV001575129

NM_000548.5(TSC2):c.1492G>T (p.Glu498Ter)

SNV
Germline

Chr16:2064320

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA014978

rs_45517178

2 SubmittersRCV000042899 RCV002266915

NM_000548.5(TSC2):c.1831C>T (p.Arg611Trp)

SNV
Germline/somatic

Chr16:2070570

Pathogenic

Tuberous sclerosis syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Subependymal giant-cell astrocytoma

Criteria Provided
Multiple Submitters
No Conflicts

CA015914

rs_45469298

12 SubmittersRCV000042905 RCV000189989 RCV000491813 RCV000539587 RCV000768117 RCV006253752

NM_000548.5(TSC2):c.1599+1G>A

SNV
Germline

Chr16:2064428

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA015195

rs_45517182

4 SubmittersRCV000042908 RCV000201163 RCV000490888 RCV002472947

NM_000548.5(TSC2):c.1599+2T>C

SNV
Germline

Chr16:2064429

Pathogenic

Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Single Submitter

CA015210

rs_45517183

2 SubmittersRCV000042909 RCV000491391

NM_000548.5(TSC2):c.1348G>T (p.Glu450Ter)

SNV
Germline

Chr16:2062587

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA014477

rs_45491095

2 SubmittersRCV000042913 RCV001388103

NM_000548.5(TSC2):c.1060C>T (p.Gln354Ter)

SNV
Germline

Chr16:2060754

Pathogenic

Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA013658

rs_45469896

4 SubmittersRCV000042918 RCV000713913 RCV001382877

NM_000548.5(TSC2):c.1839+6G>A

SNV
Germline

Chr16:2070584

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Tuberous sclerosis 2
not specified
Condition: not provided
Hereditary cancer-predisposing syndrome
Intellectual disability

Criteria Provided
Conflicting Classifications

CA015966

rs_45517204

20 SubmittersRCV000042920 RCV000233074 RCV000349195 RCV000513698 RCV002255268 RCV005625247

NM_000548.5(TSC2):c.138+1G>A

SNV
Germline

Chr16:2048754

Likely pathogenic

Tuberous sclerosis syndrome

Criteria Provided
Single Submitter

CA014645

rs_45517091

2 SubmittersRCV000042923

NM_000548.5(TSC2):c.1142G>A (p.Arg381Lys)

SNV
Germline

Chr16:2061893

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA013922

rs_45465395

3 SubmittersRCV000042935 RCV002513627

NM_000548.5(TSC2):c.1210C>T (p.Gln404Ter)

SNV
Germline

Chr16:2061961

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2
TSC2-related disorder
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA014047

rs_45457701

4 SubmittersRCV000042938 RCV001382878 RCV004528236 RCV005251050

NM_000548.5(TSC2):c.2295C>T (p.Ala765=)

SNV
Germline

Chr16:2072923

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA017160

rs_45509500

10 SubmittersRCV000042939 RCV000731964 RCV001081090 RCV002256027 RCV002281730

NM_000548.5(TSC2):c.2328C>A (p.Tyr776Ter)

SNV
Germline

Chr16:2072956

Pathogenic

Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2
Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II

Criteria Provided
Multiple Submitters
No Conflicts

CA017191

rs_45517225

5 SubmittersRCV000042941 RCV000407429 RCV001194681 RCV005016331

NM_000548.5(TSC2):c.1229T>G (p.Leu410Arg)

SNV
Germline

Chr16:2061980

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA014118

rs_137854298

6 SubmittersRCV000042942 RCV000201010 RCV002468995

NM_000548.5(TSC2):c.1257+2T>C

SNV
Germline

Chr16:2062010

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA014221

rs_45509697

3 SubmittersRCV000042945 RCV000722173

NM_000548.5(TSC2):c.1837C>T (p.Gln613Ter)

SNV
Germline

Chr16:2070576

Pathogenic

Tuberous sclerosis syndrome
Lymphangiomyomatosis
Condition: not provided

Criteria Provided
Single Submitter

CA015927

rs_45480292

2 SubmittersRCV000042947 RCV000055587 RCV005627340

NM_000548.5(TSC2):c.1599G>A (p.Lys533=)

SNV
Germline

Chr16:2064427

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Lymphangiomyomatosis
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA015223

rs_1555502589

3 SubmittersRCV000042949 RCV001056287 RCV006257261

NM_000548.5(TSC2):c.1361+1G>A

SNV
Germline

Chr16:2062601

Pathogenic/Likely pathogenic

Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA014515

rs_45517164

3 SubmittersRCV000042956 RCV001725958 RCV005089393

NM_000548.5(TSC2):c.2355+1G>A

SNV
Germline

Chr16:2072984

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA017233

rs_45517227

2 SubmittersRCV000042975 RCV000800581

NM_000548.5(TSC2):c.2355+2T>C

SNV
Germline

Chr16:2072985

Pathogenic/Likely pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA017242

rs_45517228

3 SubmittersRCV000042977 RCV000800582 RCV006287155

NM_000548.5(TSC2):c.2853A>T (p.Arg951Ser)

SNV
Germline

Chr16:2077613

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA018279

rs_45517273

3 SubmittersRCV000042983 RCV001208145 RCV002433528

NM_000548.5(TSC2):c.1841C>A (p.Ala614Asp)

SNV
Germline

Chr16:2071511

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA016019

rs_45454398

3 SubmittersRCV000042985 RCV002514169 RCV005625248

NM_000548.5(TSC2):c.2410T>C (p.Cys804Arg)

SNV
Germline

Chr16:2074254

Pathogenic/Likely pathogenic

Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA017384

rs_137853995

5 SubmittersRCV000042990 RCV000189999 RCV000201105

NM_000548.5(TSC2):c.2098-1G>A

SNV
Germline

Chr16:2072240

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA016712

rs_45517212

5 SubmittersRCV000042995 RCV000229589 RCV000482722 RCV005286019

NM_000548.5(TSC2):c.2098-2A>G

SNV
Germline

Chr16:2072239

Pathogenic

Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA016720

rs_45501596

4 SubmittersRCV000042996 RCV002415491 RCV003155053

NM_000548.5(TSC2):c.3099C>A (p.Tyr1033Ter)

SNV
Germline

Chr16:2079164

Pathogenic

Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA018520

rs_45464800

4 SubmittersRCV000042999 RCV000760362 RCV000806140

NM_000548.5(TSC2):c.3099C>G (p.Tyr1033Ter)

SNV
Germline

Chr16:2079164

Pathogenic

Tuberous sclerosis syndrome
TSC2-related disorder
Condition: not provided
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA018525

rs_45464800

4 SubmittersRCV000043000 RCV004734598 RCV002285261 RCV002266916

NM_000548.5(TSC2):c.2108G>A (p.Trp703Ter)

SNV
Germline

Chr16:2072251

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Lymphangiomyomatosis
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA016778

rs_45517213

7 SubmittersRCV000043001 RCV000201180 RCV004798760 RCV004808563 RCV005251051

NM_000548.5(TSC2):c.2109G>A (p.Trp703Ter)

SNV
Germline

Chr16:2072252

Pathogenic

Tuberous sclerosis syndrome
Lymphangiomyomatosis
Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA016786

rs_45462192

2 SubmittersRCV000043002 RCV000055536 RCV005089394

NM_000548.5(TSC2):c.268C>T (p.Gln90Ter)

SNV
Germline

Chr16:2053384

Pathogenic

Tuberous sclerosis syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA017893

rs_45517099

8 SubmittersRCV000043003 RCV000381969 RCV000491603 RCV000707342

NM_000548.5(TSC2):c.1443+4C>T

SNV
Germline

Chr16:2063057

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
not specified
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided
Dystonia, early-onset, and/or spastic paraplegia

Criteria Provided
Conflicting Classifications

CA014832

rs_45517172

14 SubmittersRCV000043007 RCV000189887 RCV000565280 RCV000989418 RCV002262603 RCV005625249

NM_000548.5(TSC2):c.1443G>A (p.Glu481=)

SNV
Germline

Chr16:2063053

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA014840

rs_137854876

2 SubmittersRCV000043008 RCV003511991

NM_000548.5(TSC2):c.2742+1G>A

SNV
Germline

Chr16:2076171

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA017990

rs_45517262

2 SubmittersRCV000043011 RCV002513628

NM_000548.5(TSC2):c.3132-1G>A

SNV
Germline

Chr16:2079275

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA018616

rs_45443096

2 SubmittersRCV000043014 RCV001379864

NM_000548.5(TSC2):c.2477T>C (p.Leu826Pro)

SNV
Germline

Chr16:2074321

Pathogenic/Likely pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA017496

rs_45517239

4 SubmittersRCV000043016 RCV000473440 RCV004566811

NM_000548.5(TSC2):c.3476G>A (p.Arg1159Gln)

SNV
Germline

Chr16:2080243

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA019197

rs_45473098

9 SubmittersRCV000043020 RCV000177445 RCV000565521 RCV000724630 RCV001086436 RCV005394260

NM_000548.5(TSC2):c.1117C>T (p.Gln373Ter)

SNV
Germline

Chr16:2060811

Pathogenic

Tuberous sclerosis syndrome
Condition: not provided

Criteria Provided
Single Submitter

CA013824

rs_45458694

2 SubmittersRCV000043024 RCV004783734

NM_000548.5(TSC2):c.3598C>T (p.Arg1200Trp)

SNV
Germline

Chr16:2080365

Pathogenic

Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Lymphangiomyomatosis
TSC2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA019313

rs_45438205

23 SubmittersRCV000043035 RCV000190021 RCV000190880 RCV002453340 RCV002490595 RCV004537174

NM_000548.5(TSC2):c.1865G>A (p.Arg622Gln)

SNV
Germline

Chr16:2071535

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
TSC2-related disorder
Gastric cancer

Criteria Provided
Conflicting Classifications

CA016094

rs_45517206

11 SubmittersRCV000043039 RCV000233524 RCV001013448 RCV001703938 RCV004734599 RCV005890314

NM_000548.5(TSC2):c.1865G>C (p.Arg622Pro)

SNV
Germline

Chr16:2071535

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA016103

rs_45517206

5 SubmittersRCV000043040 RCV000713916 RCV001379863 RCV005761954

NM_000548.5(TSC2):c.4005+1G>T

SNV
Germline

Chr16:2083817

Pathogenic/Likely pathogenic

Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA019809

rs_45517324

5 SubmittersRCV000043043 RCV001171696 RCV001377312

NM_000548.5(TSC2):c.2546-2A>G

SNV
Germline

Chr16:2075797

Pathogenic

Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA017648

rs_45517246

4 SubmittersRCV000043045 RCV000176373 RCV001380264

NM_000548.5(TSC2):c.2785G>T (p.Glu929Ter)

SNV
Germline

Chr16:2076533

Pathogenic

Tuberous sclerosis syndrome
Condition: not provided

Criteria Provided
Single Submitter

CA018189

rs_45517268

2 SubmittersRCV000043047 RCV005434621

NM_000548.5(TSC2):c.4570-66G>A

SNV
Germline

Chr16:2085164

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA020695

rs_45496499

4 SubmittersRCV000043048 RCV000983809 RCV002054853 RCV002257385

NM_000548.5(TSC2):c.4672G>A (p.Glu1558Lys)

SNV
Germline

Chr16:2086202

Pathogenic/Likely pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA020888

rs_45517360

10 SubmittersRCV000043059 RCV001054560 RCV001200217 RCV003162358

NM_000548.5(TSC2):c.3352C>T (p.Gln1118Ter)

SNV
Germline

Chr16:2079624

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA018941

rs_45496291

4 SubmittersRCV000043062 RCV001280880 RCV005434622

NM_000548.5(TSC2):c.4129C>T (p.Gln1377Ter)

SNV
Germline

Chr16:2084351

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA019981

rs_45517329

6 SubmittersRCV000043066 RCV001390822 RCV003460557 RCV004812298

NM_000548.5(TSC2):c.4174C>T (p.Gln1392Ter)

SNV
Germline

Chr16:2084396

Pathogenic

Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2
See cases

Criteria Provided
Multiple Submitters
No Conflicts

CA020033

rs_45517330

10 SubmittersRCV000043072 RCV000760365 RCV000660347 RCV004584339

NM_000548.5(TSC2):c.4219G>C (p.Val1407Leu)

SNV
Germline

Chr16:2084441

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA020086

rs_45517332

3 SubmittersRCV000043078 RCV001852896 RCV002326761

NM_000548.5(TSC2):c.2221-2A>G

SNV
Germline

Chr16:2072847

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA016997

rs_45502196

2 SubmittersRCV000043081 RCV000694650

NM_000548.5(TSC2):c.496C>T (p.Gln166Ter)

SNV
Germline

Chr16:2055416

Pathogenic

Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA021413

rs_45517111

4 SubmittersRCV000043085 RCV000351808 RCV002513629

NM_000548.5(TSC2):c.4779C>G (p.Tyr1593Ter)

SNV
Germline

Chr16:2086309

Pathogenic

Tuberous sclerosis syndrome
TSC2-related disorder

No Assertion Criteria Provided

CA020994

rs_45517368

2 SubmittersRCV000043086 RCV004537176

NM_000548.5(TSC2):c.4255C>T (p.Gln1419Ter)

SNV
Germline

Chr16:2084477

Pathogenic

Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA020121

rs_45437193

5 SubmittersRCV000043087 RCV000760367 RCV001852897 RCV002326762

NM_000548.5(TSC2):c.481+5G>T

SNV
Germline

Chr16:2054445

Pathogenic

Tuberous sclerosis syndrome
Condition: not provided

Criteria Provided
Single Submitter

CA021024

rs_137854135

2 SubmittersRCV000043091 RCV001091437

NM_000548.5(TSC2):c.482-1G>C

SNV
Germline

Chr16:2055401

Likely pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA021029

rs_137854306

2 SubmittersRCV000043092 RCV002514170

NM_000548.5(TSC2):c.3395C>A (p.Ser1132Ter)

SNV
Germline

Chr16:2079667

Pathogenic

Tuberous sclerosis syndrome
Condition: not provided

Criteria Provided
Single Submitter

CA019071

rs_137854074

2 SubmittersRCV000043094 RCV000414024

NM_000548.5(TSC2):c.4355C>T (p.Ser1452Leu)

SNV
Germline

Chr16:2084577

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA020322

rs_45517339

6 SubmittersRCV000043095 RCV000190032 RCV001022345 RCV001088217

NM_000548.5(TSC2):c.4360A>G (p.Ser1454Gly)

SNV
Germline

Chr16:2084582

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA020332

rs_137854366

4 SubmittersRCV000043096 RCV001050539 RCV001022358

NM_000548.5(TSC2):c.5227C>G (p.Arg1743Gly)

SNV
Germline

Chr16:2088293

Likely pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA022207

rs_45517412

2 SubmittersRCV000043100 RCV001249601

NM_000548.5(TSC2):c.3816G>A (p.Val1272=)

SNV
Germline

Chr16:2082437

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA019584

rs_45517314

8 SubmittersRCV000043101 RCV000540094 RCV001021220 RCV001249117

NM_000548.5(TSC2):c.4276G>T (p.Glu1426Ter)

SNV
Germline

Chr16:2084498

Pathogenic

Tuberous sclerosis syndrome
Condition: not provided

Criteria Provided
Single Submitter

CA020176

rs_45449094

2 SubmittersRCV000043102 RCV006456648

NM_000548.5(TSC2):c.4830G>A (p.Trp1610Ter)

SNV
Germline

Chr16:2086360

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA021078

rs_45517372

2 SubmittersRCV000043107 RCV001047663

NM_000548.5(TSC2):c.2824G>T (p.Glu942Ter)

SNV
Germline

Chr16:2076572

Pathogenic

Tuberous sclerosis syndrome
not specified
Tuberous sclerosis 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA018233

rs_45517270

6 SubmittersRCV000043109 RCV000506994 RCV001040727 RCV004799760

NM_000548.5(TSC2):c.2639+10C>T

SNV
Germline

Chr16:2075902

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Condition: not provided
not specified
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA017749

rs_137854378

9 SubmittersRCV000043110 RCV000456709 RCV000603883 RCV001080378

NM_000548.5(TSC2):c.2639+1G>C

SNV
Germline

Chr16:2075893

Pathogenic

Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Single Submitter

CA017760

rs_45517252

2 SubmittersRCV000201066 RCV000043111

NM_000548.5(TSC2):c.538C>G (p.Leu180Val)

SNV
Germline

Chr16:2055458

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
not specified
Condition: not provided
Seizure
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA022465

rs_45485591

14 SubmittersRCV000043112 RCV000419036 RCV000729019 RCV000781951 RCV000989415 RCV001024017

NM_000548.5(TSC2):c.5161-1G>T

SNV
Germline

Chr16:2088226

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA022018

rs_45517404

2 SubmittersRCV000043114 RCV003511993

NM_000548.5(TSC2):c.4620C>G (p.Tyr1540Ter)

SNV
Germline

Chr16:2085280

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2
TSC2-related disorder
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA020771

rs_45455897

4 SubmittersRCV000043115 RCV001215383 RCV004724774 RCV006434421

NM_000548.5(TSC2):c.4990-6G>A

SNV
Germline

Chr16:2087857

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA021478

rs_137853987

3 SubmittersRCV000043117 RCV000644345 RCV004998142

NM_000548.5(TSC2):c.5034C>G (p.Tyr1678Ter)

SNV
Germline

Chr16:2087907

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA021563

rs_45467993

3 SubmittersRCV000043118 RCV000795199 RCV005420523

NM_000548.5(TSC2):c.3883+5C>T

SNV
Germline

Chr16:2082509

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
TSC2-related disorder

Criteria Provided
Conflicting Classifications

CA019611

rs_45448994

7 SubmittersRCV000043121 RCV000477446 RCV000491182 RCV004537177

NM_000548.5(TSC2):c.4569+12C>T

SNV
Germline

Chr16:2085038

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Condition: not provided
not specified
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA020659

rs_45517350

5 SubmittersRCV000043122 RCV000514983 RCV000608845 RCV002054855

NM_000548.5(TSC2):c.4849+1G>A

SNV
Germline

Chr16:2086380

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA021094

rs_45517375

3 SubmittersRCV000043130 RCV000644240 RCV002336161

NM_000548.5(TSC2):c.4661A>C (p.Gln1554Pro)

SNV
Germline

Chr16:2085321

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA020835

rs_45473296

3 SubmittersRCV000043132 RCV003511994 RCV005089395

NM_000548.5(TSC2):c.5185C>T (p.Arg1729Cys)

SNV
Germline

Chr16:2088251

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
TSC2-related disorder

Criteria Provided
Conflicting Classifications

CA022096

rs_45517409

14 SubmittersRCV000043133 RCV000459372 RCV000567321 RCV001697038 RCV004703197 RCV004541227

NM_000548.5(TSC2):c.5069-1G>C

SNV
Germline

Chr16:2088047

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA021646

rs_45517389

2 SubmittersRCV000043134 RCV001852899

NM_000548.5(TSC2):c.3398-1G>A

SNV
Germline

Chr16:2080164

Pathogenic

Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Single Submitter

CA019095

rs_45517293

2 SubmittersRCV000043137 RCV002453342

NM_000548.5(TSC2):c.3080T>C (p.Leu1027Pro)

SNV
Germline

Chr16:2079145

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA018468

rs_45438192

2 SubmittersRCV000043140 RCV001216513

NM_000548.5(TSC2):c.599+2T>G

SNV
Germline

Chr16:2055521

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA022631

rs_45484992

2 SubmittersRCV000043142 RCV001037420

NM_000548.5(TSC2):c.599+5G>A

SNV
Germline

Chr16:2055524

Pathogenic/Likely pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA022643

rs_45463996

3 SubmittersRCV000043143 RCV000792508 RCV006274985

NM_000548.5(TSC2):c.4906G>A (p.Asp1636Asn)

SNV
Germline

Chr16:2086788

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
not specified
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA021203

rs_45482398

9 SubmittersRCV000043146 RCV000189937 RCV000644309 RCV001023245

NM_000548.5(TSC2):c.603G>C (p.Met201Ile)

SNV
Germline

Chr16:2056199

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA022680

rs_45506197

6 SubmittersRCV000043148 RCV000691597 RCV001024832

NM_000548.5(TSC2):c.618C>A (p.Cys206Ter)

SNV
Germline

Chr16:2056214

Pathogenic

Tuberous sclerosis syndrome

Criteria Provided
Single Submitter

CA022690

rs_45498496

2 SubmittersRCV000043149

NM_000548.5(TSC2):c.681C>T (p.Cys227=)

SNV
Germline

Chr16:2056676

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis 2
TSC2-related disorder

Criteria Provided
Conflicting Classifications

CA022794

rs_45443205

12 SubmittersRCV000043158 RCV000427770 RCV000571297 RCV000727275 RCV001082427 RCV004537178

NM_000548.5(TSC2):c.730T>C (p.Cys244Arg)

SNV
Germline

Chr16:2056725

Pathogenic

Tuberous sclerosis syndrome
Condition: not provided

Criteria Provided
Single Submitter

CA022889

rs_137854101

2 SubmittersRCV000043163 RCV000478154

NM_000548.5(TSC2):c.429C>G (p.Phe143Leu)

SNV
Germline

Chr16:2054388

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
not specified
Tuberous sclerosis 2
See cases
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA020223

rs_137854406

8 SubmittersRCV000043165 RCV000431983 RCV000476314 RCV002287356 RCV002326763

NM_000548.5(TSC2):c.600-1G>A

SNV
Germline

Chr16:2056195

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA022665

rs_45517117

2 SubmittersRCV000043169 RCV000685234

NM_000548.5(TSC2):c.600-2A>G

SNV
Germline

Chr16:2056194

Likely pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA022669

rs_45468592

2 SubmittersRCV000043170 RCV002283449

NM_000548.5(TSC2):c.4927A>C (p.Asn1643His)

SNV
Germline

Chr16:2086809

Pathogenic

Tuberous sclerosis syndrome
Condition: not provided

Criteria Provided
Single Submitter

CA021298

rs_45517379

2 SubmittersRCV000043177 RCV000478359

NM_000548.5(TSC2):c.5116C>T (p.Arg1706Cys)

SNV
Germline

Chr16:2088095

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
not specified
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
See cases

Criteria Provided
Conflicting Classifications

CA021761

rs_45517391

16 SubmittersRCV000043179 RCV000189943 RCV000512881 RCV000571102 RCV001082733 RCV002222154

NM_000548.5(TSC2):c.759C>A (p.Cys253Ter)

SNV
Germline

Chr16:2056754

Pathogenic

Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA022915

rs_45517125

3 SubmittersRCV000043181 RCV003311672 RCV005089397

NM_000548.5(TSC2):c.774+1G>A

SNV
Germline

Chr16:2056770

Pathogenic

Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA022937

rs_45517128

5 SubmittersRCV000043186 RCV000423250 RCV001037395

NM_000548.5(TSC2):c.791T>C (p.Leu264Pro)

SNV
Germline

Chr16:2057121

Likely pathogenic

Tuberous sclerosis syndrome
Condition: not provided

Criteria Provided
Single Submitter

CA022990

rs_45517131

2 SubmittersRCV000043188 RCV000523170

NM_000548.5(TSC2):c.848+1G>A

SNV
Germline

Chr16:2057179

Pathogenic

Tuberous sclerosis 2
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA023022

rs_45466296

4 SubmittersRCV000201109 RCV000190083 RCV000043189

NM_000548.5(TSC2):c.848+281C>T

SNV
Germline

Chr16:2057459

Pathogenic/Likely pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Lymphangiomyomatosis
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA023025

rs_45517132

9 SubmittersRCV000043190 RCV000457139 RCV001197516 RCV002243690 RCV002444498

NM_000548.5(TSC2):c.4432G>C (p.Asp1478His)

SNV
Germline

Chr16:2084654

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA020460

rs_45517343

7 SubmittersRCV000043192 RCV000474980 RCV001022469 RCV001086757

NM_000548.5(TSC2):c.4439T>A (p.Leu1480Ter)

SNV
Germline/somatic

Chr16:2084661

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Neoplasm

Criteria Provided
Single Submitter

CA020472

rs_45446594

3 SubmittersRCV000043193 RCV001852900 RCV005229859

NM_000548.5(TSC2):c.5126C>T (p.Pro1709Leu)

SNV
Germline

Chr16:2088105

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA021795

rs_45517393

4 SubmittersRCV000043196 RCV000693889 RCV004700315

NM_000548.5(TSC2):c.5138G>A (p.Arg1713His)

SNV
Germline

Chr16:2088117

Pathogenic/Likely pathogenic

Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis 2
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis

Criteria Provided
Multiple Submitters
No Conflicts

CA021840

rs_45517395

13 SubmittersRCV000043197 RCV000129852 RCV000254730 RCV000459221 RCV000763367

NM_000548.5(TSC2):c.5138G>C (p.Arg1713Pro)

SNV
Germline

Chr16:2088117

Likely pathogenic

Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Single Submitter

CA021846

rs_45517395

2 SubmittersRCV000201077 RCV000043198

NM_000548.5(TSC2):c.5161-1G>A

SNV
Germline

Chr16:2088226

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Lymphangiomyomatosis
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II

Criteria Provided
Multiple Submitters
No Conflicts

CA022008

rs_45517404

4 SubmittersRCV000043210 RCV000472098 RCV001027854

NM_000548.5(TSC2):c.5161-1G>C

SNV
Germline

Chr16:2088226

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA022014

rs_45517404

6 SubmittersRCV000043211 RCV001281110 RCV005621865

NM_000548.5(TSC2):c.972C>A (p.Tyr324Ter)

SNV
Germline

Chr16:2058870

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA023189

rs_45517143

2 SubmittersRCV000043213 RCV000462556

NM_000548.5(TSC2):c.975+1G>A

SNV
Germline

Chr16:2058874

Pathogenic/Likely pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA023203

rs_137854200

3 SubmittersRCV000043215 RCV003128238

NM_000548.5(TSC2):c.5167T>C (p.Ser1723Pro)

SNV
Germline

Chr16:2088233

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Tuberous sclerosis 2
not specified

Criteria Provided
Conflicting Classifications

CA022058

rs_45517408

3 SubmittersRCV000043216 RCV001366989 RCV002247426

NM_000548.5(TSC2):c.5170C>T (p.Gln1724Ter)

SNV
Germline

Chr16:2088236

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA022073

rs_45472701

4 SubmittersRCV000043217 RCV000201008 RCV002336162

NM_000548.5(TSC2):c.4735G>A (p.Gly1579Ser)

SNV
Germline

Chr16:2086265

Likely pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA020963

rs_45503995

3 SubmittersRCV000043223 RCV002298454

NM_000548.5(TSC2):c.5228G>A (p.Arg1743Gln)

SNV
Germline

Chr16:2088294

Pathogenic/Likely pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
TSC2-related disorder
Lymphangiomyomatosis
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II

Criteria Provided
Multiple Submitters
No Conflicts

CA022218

rs_45507199

19 SubmittersRCV000043227 RCV000201149 RCV000190035 RCV002336163 RCV004734600 RCV005394264

NM_000548.5(TSC2):c.5228G>C (p.Arg1743Pro)

SNV
Germline

Chr16:2088294

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA022224

rs_45507199

2 SubmittersRCV000043228 RCV003511996

NM_000548.5(TSC2):c.5231T>C (p.Leu1744Pro)

SNV
Germline

Chr16:2088297

Likely pathogenic

Tuberous sclerosis syndrome
Condition: not provided

Criteria Provided
Single Submitter

CA022245

rs_45517413

2 SubmittersRCV000043229 RCV003311673

NM_000548.5(TSC2):c.4849+12C>T

SNV
Germline

Chr16:2086391

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Lung lymphangioleiomyomatosis
not specified

Criteria Provided
Conflicting Classifications

CA021088

rs_45517373

7 SubmittersRCV000043230 RCV001650883 RCV002256028 RCV002054857 RCV005357283 RCV005430951

NM_000548.5(TSC2):c.4850-1G>A

SNV
Germline

Chr16:2086731

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA021116

rs_45517377

2 SubmittersRCV000043232 RCV002514172

NM_000548.5(TSC2):c.4887C>T (p.Asp1629=)

SNV
Germline

Chr16:2086769

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
not specified
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
TSC2-related disorder

Criteria Provided
Conflicting Classifications

CA021191

rs_137854152

11 SubmittersRCV000043239 RCV000431036 RCV000464259 RCV000564650 RCV004541228

NM_000548.5(TSC2):c.4925G>A (p.Gly1642Asp)

SNV
Germline

Chr16:2086807

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA021290

rs_137854343

4 SubmittersRCV000043245 RCV001238557 RCV002345329 RCV004998143

NM_000548.5(TSC2):c.775-1G>A

SNV
Germline

Chr16:2057104

Likely pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA022965

rs_45454192

2 SubmittersRCV000043251 RCV001237072

NM_000548.5(TSC2):c.4397C>A (p.Ser1466Ter)

SNV
Germline

Chr16:2084619

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA020377

rs_45517341

2 SubmittersRCV000043254 RCV002513631

NM_000548.5(TSC2):c.4989+1G>T

SNV
Germline

Chr16:2086872

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA021467

rs_45517386

2 SubmittersRCV000043259 RCV005089398

NM_000548.5(TSC2):c.3718C>T (p.Arg1240Cys)

SNV
Germline

Chr16:2081702

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA019506

rs_137854353

3 SubmittersRCV000043283 RCV000537246 RCV003162359

NM_000548.5(TSC2):c.5068+1G>A

SNV
Germline

Chr16:2087942

Pathogenic/Likely pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA021612

rs_45445199

7 SubmittersRCV000043292 RCV001222160 RCV001795037 RCV005502754

NM_000548.5(TSC2):c.4662+1G>A

SNV
Germline

Chr16:2085323

Pathogenic

Tuberous sclerosis syndrome
Severe intellectual disability
Infantile spasms
Lymphangiomyomatosis
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA020846

rs_45514095

4 SubmittersRCV000043297 RCV000415345 RCV001198320 RCV003511998

NM_000548.5(TSC2):c.395C>G (p.Ser132Cys)

SNV
Germline

Chr16:2054354

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
not specified
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA019748

rs_137854391

6 SubmittersRCV000043300 RCV000421754 RCV000464621 RCV002354225

NM_000548.5(TSC2):c.577G>T (p.Glu193Ter)

SNV
Germline

Chr16:2055497

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA022584

rs_45517112

4 SubmittersRCV000043305 RCV003485532 RCV005089399

NM_000548.5(TSC2):c.3132-2A>C

SNV
Germline

Chr16:2079274

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA018628

rs_45517282

2 SubmittersRCV000043314 RCV002513632

NM_000548.5(TSC2):c.4685T>C (p.Leu1562Pro)

SNV
Germline

Chr16:2086215

Likely pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA020902

rs_45517362

4 SubmittersRCV000043318 RCV000989438 RCV000713940 RCV002336165

NM_000548.5(TSC2):c.4689C>T (p.Ser1563=)

SNV
Germline

Chr16:2086219

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA020905

rs_45517363

6 SubmittersRCV000043319 RCV001503285 RCV003298087 RCV005241337

NM_000548.5(TSC2):c.4700G>A (p.Gly1567Asp)

SNV
Germline

Chr16:2086230

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA020917

rs_45517364

3 SubmittersRCV000043320 RCV002336166 RCV006253753

NM_000548.5(TSC2):c.3254C>A (p.Ser1085Ter)

SNV
Germline

Chr16:2079398

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA018749

rs_45517287

3 SubmittersRCV000043321 RCV003511999

NM_000548.5(TSC2):c.3284+1G>A

SNV
Germline

Chr16:2079429

Pathogenic/Likely pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA018811

rs_45517289

6 SubmittersRCV000043323 RCV000690660 RCV000728085

NM_000548.5(TSC2):c.3284G>A (p.Ser1095Asn)

SNV
Germline

Chr16:2079428

Pathogenic/Likely pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA018827

rs_1555510754

6 SubmittersRCV000043324 RCV001042713 RCV002321537 RCV003313034

NM_000548.5(TSC2):c.3355C>T (p.Gln1119Ter)

SNV
Germline

Chr16:2079627

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA018947

rs_45517292

2 SubmittersRCV000043329 RCV001230710

NM_000548.5(TSC2):c.336+1G>A

SNV
Germline

Chr16:2053453

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA018966

rs_45517102

3 SubmittersRCV000043330 RCV000476030 RCV003332095

NM_000548.5(TSC2):c.336+2T>G

SNV
Germline

Chr16:2053454

Pathogenic

Tuberous sclerosis syndrome
Condition: not provided

Criteria Provided
Single Submitter

CA018982

rs_45505995

2 SubmittersRCV000043331 RCV003233097

NM_000548.5(TSC2):c.5069-2A>G

SNV
Germline

Chr16:2088046

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA021662

rs_45487291

3 SubmittersRCV000043332 RCV000815382

NM_000548.5(TSC2):c.3397+5G>A

SNV
Germline

Chr16:2079674

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA019083

rs_45501492

3 SubmittersRCV000043341 RCV000190074 RCV002514174

NM_000548.5(TSC2):c.2549T>C (p.Leu850Pro)

SNV
Germline

Chr16:2075802

Pathogenic/Likely pathogenic

Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA017661

rs_45517248

3 SubmittersRCV000043343 RCV000491444 RCV001852902

NM_000548.5(TSC2):c.2585C>T (p.Ala862Val)

SNV
Germline

Chr16:2075838

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
not specified
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA017697

rs_45517249

10 SubmittersRCV000043344 RCV000612238 RCV001087230 RCV002255269

NM_000548.5(TSC2):c.2590C>T (p.Gln864Ter)

SNV
Germline

Chr16:2075843

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA017705

rs_45517250

5 SubmittersRCV000043346 RCV001211580 RCV002247427

NM_000548.5(TSC2):c.3442C>T (p.Gln1148Ter)

SNV
Germline

Chr16:2080209

Pathogenic

Tuberous sclerosis syndrome
Lymphangiomyomatosis
Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2
Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II

Criteria Provided
Multiple Submitters
No Conflicts

CA019175

rs_45477491

5 SubmittersRCV000043353 RCV000055289 RCV000478926 RCV000644112 RCV005394266

NM_000548.5(TSC2):c.3476G>T (p.Arg1159Leu)

SNV
Germline

Chr16:2080243

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA019201

rs_45473098

6 SubmittersRCV000043355 RCV000477075 RCV000568240

NM_000548.5(TSC2):c.3491C>T (p.Ala1164Val)

SNV
Germline

Chr16:2080258

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
TSC2-related disorder

Criteria Provided
Conflicting Classifications

CA019211

rs_45448801

15 SubmittersRCV000043356 RCV000228930 RCV000567364 RCV001699111 RCV001727553 RCV004537179

NM_000548.5(TSC2):c.2700C>A (p.Cys900Ter)

SNV
Germline

Chr16:2076128

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA017927

rs_45517257

2 SubmittersRCV000043359 RCV001054715

NM_000548.5(TSC2):c.4733T>C (p.Leu1578Pro)

SNV
Germline

Chr16:2086263

Pathogenic/Likely pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA020960

rs_45517367

3 SubmittersRCV000043361 RCV000820413

NM_000548.5(TSC2):c.4751T>G (p.Leu1584Arg)

SNV
Germline

Chr16:2086281

Likely pathogenic

Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA020979

rs_137854203

3 SubmittersRCV000043362 RCV002326765 RCV002514176

NM_000548.5(TSC2):c.4762C>T (p.Gln1588Ter)

SNV
Germline

Chr16:2086292

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA020985

rs_45479192

6 SubmittersRCV000043363 RCV000201115 RCV000991340

NM_000548.5(TSC2):c.2742G>A (p.Lys914=)

SNV
Germline

Chr16:2076170

Pathogenic/Likely pathogenic

Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA018006

rs_137854877

3 SubmittersRCV000043370 RCV000657885 RCV005089400

NM_000548.5(TSC2):c.2086T>C (p.Cys696Arg)

SNV
Germline

Chr16:2071923

Likely pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA016629

rs_45483301

2 SubmittersRCV000043372 RCV000807899

NM_000548.5(TSC2):c.2087G>A (p.Cys696Tyr)

SNV
Germline

Chr16:2071924

Pathogenic/Likely pathogenic

Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA016643

rs_45486196

4 SubmittersRCV000043373 RCV000490930 RCV001240824

NM_000548.5(TSC2):c.3574C>T (p.Gln1192Ter)

SNV
Germline

Chr16:2080341

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA019287

rs_45517298

2 SubmittersRCV000043376 RCV001852903

NM_000548.5(TSC2):c.2194C>T (p.Gln732Ter)

SNV
Germline

Chr16:2072337

Pathogenic

Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA016897

rs_45517216

5 SubmittersRCV000043385 RCV000484682 RCV000811066 RCV002426589

NM_000548.5(TSC2):c.2198T>C (p.Leu733Pro)

SNV
Germline

Chr16:2072341

Likely pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA016906

rs_45517217

3 SubmittersRCV000043386 RCV002273946

NM_000548.5(TSC2):c.2220+1G>T

SNV
Germline

Chr16:2072364

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA016946

rs_137854361

3 SubmittersRCV000043387 RCV000722174

NM_000548.5(TSC2):c.4313G>A (p.Arg1438Gln)

SNV
Germline

Chr16:2084535

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA020250

rs_45448791

6 SubmittersRCV000043391 RCV000543604 RCV001022275 RCV004700316

NM_000548.5(TSC2):c.4324G>A (p.Glu1442Lys)

SNV
Germline

Chr16:2084546

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
TSC2-related disorder

Criteria Provided
Conflicting Classifications

CA020286

rs_45469392

7 SubmittersRCV000043392 RCV000536583 RCV001022298 RCV004537180

NM_000548.5(TSC2):c.1444-1G>A

SNV
Germline

Chr16:2064271

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA014864

rs_45515902

3 SubmittersRCV000043394 RCV002514178

NM_000548.5(TSC2):c.2251C>T (p.Arg751Ter)

SNV
Germline

Chr16:2072879

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided
Lymphangiomyomatosis
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II

Criteria Provided
Multiple Submitters
No Conflicts

CA017090

rs_45517222

12 SubmittersRCV000043398 RCV000201032 RCV000519394 RCV000763365 RCV002444499 RCV004566812

NM_000548.5(TSC2):c.2353C>T (p.Gln785Ter)

SNV
Germline

Chr16:2072981

Pathogenic

Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA017226

rs_45517226

5 SubmittersRCV000043411 RCV000760361 RCV003512001

NM_000548.5(TSC2):c.1661C>A (p.Ser554Ter)

SNV
Germline

Chr16:2065580

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA015421

rs_45471596

2 SubmittersRCV000043413 RCV001852905

NM_000548.5(TSC2):c.1716+1G>A

SNV
Germline

Chr16:2065636

Pathogenic/Likely pathogenic

Tuberous sclerosis syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA015487

rs_45517190

3 SubmittersRCV000043415 RCV003332096 RCV002399402

NM_000548.5(TSC2):c.3611G>A (p.Gly1204Glu)

SNV
Germline

Chr16:2081595

Pathogenic/Likely pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA019384

rs_45462194

5 SubmittersRCV000043416 RCV000201026 RCV000414012

NM_000548.5(TSC2):c.2370C>G (p.Tyr790Ter)

SNV
Germline

Chr16:2074214

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA017308

rs_45517232

3 SubmittersRCV000043424 RCV001852907 RCV002453343

NM_000548.5(TSC2):c.1793A>G (p.Tyr598Cys)

SNV
Germline

Chr16:2070532

Pathogenic/Likely pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA015795

rs_45509791

5 SubmittersRCV000043430 RCV000473316 RCV004948152 RCV006449963

NM_000548.5(TSC2):c.1794C>G (p.Tyr598Ter)

SNV
Germline

Chr16:2070533

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA015804

rs_45509094

3 SubmittersRCV000043431 RCV003512002 RCV003114226

NM_000548.5(TSC2):c.1133C>T (p.Pro378Leu)

SNV
Germline

Chr16:2061884

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis 2
TSC2-related disorder

Criteria Provided
Conflicting Classifications

CA013884

rs_45517154

11 SubmittersRCV000043432 RCV000572792 RCV000842561 RCV001084867 RCV004734601

NM_000548.5(TSC2):c.300G>A (p.Ala100=)

SNV
Germline

Chr16:2053416

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA018399

rs_45517100

13 SubmittersRCV000043438 RCV000163268 RCV000251650 RCV000724097 RCV001082842

NM_000548.5(TSC2):c.1249C>T (p.Gln417Ter)

SNV
Germline

Chr16:2062000

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA014169

rs_45517158

3 SubmittersRCV000043443 RCV000660342

NM_000548.5(TSC2):c.1255C>T (p.Pro419Ser)

SNV
Germline

Chr16:2062006

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA014179

rs_45517159

2 SubmittersRCV000043444 RCV000201101

NM_000548.5(TSC2):c.1839+1G>T

SNV
Germline

Chr16:2070579

Pathogenic

Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA015948

rs_45438400

3 SubmittersRCV000043446 RCV000498860 RCV003512003

NM_000548.5(TSC2):c.1293G>A (p.Ala431=)

SNV
Germline

Chr16:2062532

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA014379

rs_45517162

10 SubmittersRCV000043449 RCV000163730 RCV000476624 RCV001707517

NM_000548.5(TSC2):c.2447C>T (p.Pro816Leu)

SNV
Germline

Chr16:2074291

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA017430

rs_45517236

5 SubmittersRCV000043451 RCV000430436 RCV001705694

NM_000548.5(TSC2):c.1362-10C>A

SNV
Germline

Chr16:2062962

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
TSC2-related disorder

Criteria Provided
Conflicting Classifications

CA014539

rs_45446697

11 SubmittersRCV000043454 RCV000535683 RCV001797054 RCV002381328 RCV003466896 RCV004528239

NM_000548.5(TSC2):c.1362-2A>G

SNV
Germline

Chr16:2062970

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA014545

rs_45517165

2 SubmittersRCV000043455 RCV001388104

NM_000548.5(TSC2):c.136A>T (p.Arg46Ter)

SNV
Germline

Chr16:2048751

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA014603

rs_137854266

2 SubmittersRCV000043457 RCV002470737

NM_000548.5(TSC2):c.1947-2A>G

SNV
Germline

Chr16:2071782

Pathogenic

Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Single Submitter

CA016294

rs_45517207

2 SubmittersRCV000043459 RCV004678604

NM_000548.5(TSC2):c.138+5G>A

SNV
Germline/somatic

Chr16:2048758

Pathogenic/Likely pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided
Lymphangiomyomatosis
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Neoplasm

Criteria Provided
Multiple Submitters
No Conflicts

CA014690

rs_45481400

6 SubmittersRCV000043461 RCV001380069 RCV001843466 RCV002496685 RCV004668763

NM_000548.5(TSC2):c.1385G>A (p.Arg462His)

SNV
Germline

Chr16:2062995

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA014699

rs_45494392

7 SubmittersRCV000043462 RCV000528206 RCV001562608 RCV002390182 RCV003466897

NM_000548.5(TSC2):c.1397T>C (p.Leu466Pro)

SNV
Germline

Chr16:2063007

Likely pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA014733

rs_45481199

2 SubmittersRCV000043463 RCV000807349

NM_000548.5(TSC2):c.1397T>G (p.Leu466Arg)

SNV
Germline

Chr16:2063007

Likely pathogenic

Tuberous sclerosis syndrome
Condition: not provided

Criteria Provided
Single Submitter

CA014742

rs_45481199

2 SubmittersRCV000043464 RCV000482403

NM_000368.5(TSC1):c.853T>G (p.Phe285Val)

SNV
Germline

Chr9:132912342

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
not specified
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Kidney failure

Criteria Provided
Conflicting Classifications

CA008327

rs_377076733

12 SubmittersRCV000054874 RCV000122199 RCV000465974 RCV000568811 RCV001618239 RCV005625256

NM_000368.5(TSC1):c.325C>T (p.Gln109Ter)

SNV
Germline

Chr9:132925625

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA007276

rs_397514774

4 SubmittersRCV000054876 RCV000823533 RCV002307386

NM_000368.5(TSC1):c.260T>G (p.Leu87Ter)

SNV
Germline

Chr9:132925690

Pathogenic

Tuberous sclerosis syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA006706

rs_397514776

4 SubmittersRCV000054878 RCV000305404 RCV004018978 RCV003505092

NM_000368.5(TSC1):c.397G>A (p.Val133Ile)

SNV
Germline

Chr9:132923459

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Tuberous sclerosis 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA007561

rs_118203381

8 SubmittersRCV000054879 RCV000456358 RCV000782214 RCV002371892 RCV005049413

NM_000368.5(TSC1):c.2272C>T (p.Gln758Ter)

SNV
Germline

Chr9:132902724

Pathogenic

Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA006205

rs_397514783

5 SubmittersRCV000054888 RCV000428655 RCV000705433

NM_000368.5(TSC1):c.395G>A (p.Gly132Asp)

SNV
Germline

Chr9:132923461

Likely pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA007549

rs_397514784

3 SubmittersRCV000054889 RCV002513715 RCV006287157

NM_000368.5(TSC1):c.2080C>T (p.Gln694Ter)

SNV
Germline

Chr9:132903779

Pathogenic

Malignant tumor of urinary bladder
Tuberous sclerosis syndrome
Tuberous sclerosis 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA005924

rs_397514789

3 SubmittersRCV000054918 RCV000054897 RCV002267724 RCV002509195

NM_000368.5(TSC1):c.2077G>C (p.Asp693His)

SNV
Germline

Chr9:132903782

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis 1
TSC1-related disorder

Criteria Provided
Conflicting Classifications

CA005916

rs_397514800

10 SubmittersRCV000054914 RCV000564681 RCV000724243 RCV001083507 RCV003407435

NM_000368.5(TSC1):c.508+1G>A

SNV
Germline

Chr9:132923347

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 1

Criteria Provided
Single Submitter

CA007652

rs_118203390

2 SubmittersRCV000054919 RCV002291555

NM_000368.5(TSC1):c.1439-1G>A

SNV
Germline

Chr9:132906140

Pathogenic/Likely pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA004817

rs_397514804

3 SubmittersRCV000054925 RCV001039771 RCV001781387

NM_000368.5(TSC1):c.3436G>T (p.Asp1146Tyr)

SNV
Germline

Chr9:132896294

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
not specified
Lymphangiomyomatosis
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA007378

rs_397514806

10 SubmittersRCV000054927 RCV000831184 RCV001084718 RCV001020306 RCV003398644 RCV005042170

NM_000368.5(TSC1):c.915G>A (p.Gly305=)

SNV
Germline

Chr9:132911567

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA008416

rs_397515293

10 SubmittersRCV000054929 RCV000526995 RCV001018932 RCV001570973 RCV005437966

NM_000368.5(TSC1):c.1007G>A (p.Arg336Gln)

SNV
Germline

Chr9:132911475

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1

Criteria Provided
Conflicting Classifications

CA004301

rs_397514808

6 SubmittersRCV000054930 RCV000215128 RCV000465854

NM_000368.5(TSC1):c.182T>G (p.Leu61Arg)

SNV
Germline

Chr9:132927229

Likely pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 1

Criteria Provided
Single Submitter

CA005458

rs_118203345

2 SubmittersRCV000054934 RCV000461024

NM_000368.5(TSC1):c.2431C>G (p.Arg811Gly)

SNV
Germline

Chr9:132901660

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Tuberous sclerosis 1
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 1

Criteria Provided
Conflicting Classifications

CA006430

rs_397514814

3 SubmittersRCV000054939 RCV000641963 RCV005042171

NM_000368.5(TSC1):c.1876G>T (p.Glu626Ter)

SNV
Germline

Chr9:132905702

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 1

Criteria Provided
Single Submitter

CA005496

rs_397514815

2 SubmittersRCV000054940 RCV002515741

NM_000368.5(TSC1):c.211-1G>T

SNV
Germline

Chr9:132925740

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 1

Criteria Provided
Single Submitter

CA006049

rs_118203353

2 SubmittersRCV000054944 RCV000797052

NM_000368.5(TSC1):c.1141+1G>T

SNV
Germline

Chr9:132911001

Likely pathogenic

Tuberous sclerosis syndrome
Condition: not provided

Criteria Provided
Single Submitter

CA004442

rs_397514819

2 SubmittersRCV000054948 RCV001508280

NM_000368.5(TSC1):c.2191G>T (p.Glu731Ter)

SNV
Germline

Chr9:132903668

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA006117

rs_397514820

3 SubmittersRCV000054949 RCV001389750

NM_000368.5(TSC1):c.1231C>A (p.Leu411Ile)

SNV
Germline

Chr9:132910603

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Tuberous sclerosis 1
Craniopharyngioma
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA004502

rs_397514840

6 SubmittersRCV000054977 RCV000474632 RCV000761088 RCV002362687

NM_000368.5(TSC1):c.2041+1G>A

SNV
Germline

Chr9:132904410

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA005819

rs_397514842

4 SubmittersRCV000054979 RCV000201001

NM_000368.5(TSC1):c.1759A>T (p.Lys587Ter)

SNV
Germline

Chr9:132905819

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 1

Criteria Provided
Single Submitter

CA005369

rs_397514846

2 SubmittersRCV000054983 RCV001250493

NM_000368.5(TSC1):c.2626-1G>A

SNV
Germline

Chr9:132897611

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA006719

rs_397514847

5 SubmittersRCV000054985 RCV001250494 RCV006250247

NM_000368.5(TSC1):c.2932C>G (p.Leu978Val)

SNV
Germline

Chr9:132897227

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA007103

rs_397514859

9 SubmittersRCV000055001 RCV000724068 RCV001081160 RCV002316209

NM_000368.5(TSC1):c.2389C>T (p.Gln797Ter)

SNV
Germline

Chr9:132902607

Pathogenic

Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 1
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA006376

rs_397514862

6 SubmittersRCV000055004 RCV000413404 RCV000551066 RCV002496733

NM_000368.5(TSC1):c.346T>G (p.Leu116Val)

SNV
Germline

Chr9:132925604

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Autism spectrum disorder
not specified
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Condition: not provided
Tuberous sclerosis 1
TSC1-related disorder
Lymphangiomyomatosis
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA007386

rs_199620268

19 SubmittersRCV000055005 RCV000055027 RCV000122184 RCV000163292 RCV000372436 RCV000725839 RCV001080106 RCV003934997 RCV005394288

NM_000368.5(TSC1):c.1922C>A (p.Pro641His)

SNV
Germline

Chr9:132905656

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA005606

rs_397514863

8 SubmittersRCV000055006 RCV000555785 RCV001013706 RCV006258994

NM_000368.5(TSC1):c.3387C>T (p.Ala1129=)

SNV
Germline

Chr9:132896343

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
not specified
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis 1
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA007340

rs_200200869

14 SubmittersRCV000055007 RCV000193910 RCV000234681 RCV000296323 RCV000563418 RCV003884344 RCV005394289

NM_000368.5(TSC1):c.1084C>T (p.Pro362Ser)

SNV
Germline

Chr9:132911059

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA004402

rs_397514864

8 SubmittersRCV000055009 RCV000217275 RCV000642024 RCV000725515

NM_000368.5(TSC1):c.542A>C (p.His181Pro)

SNV
Germline

Chr9:132921940

Likely pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 1

Criteria Provided
Single Submitter

CA007715

rs_397515294

2 SubmittersRCV000055010 RCV002273951

NM_000368.5(TSC1):c.866C>G (p.Ser289Ter)

SNV
Germline

Chr9:132912329

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA008332

rs_397514867

4 SubmittersRCV000055015 RCV000201058

NM_000368.5(TSC1):c.2698C>T (p.Gln900Ter)

SNV
Germline

Chr9:132897538

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA006903

rs_397514871

4 SubmittersRCV000055019 RCV000201112 RCV002426611 RCV002508192

NM_000368.5(TSC1):c.2128C>T (p.Gln710Ter)

SNV
Germline

Chr9:132903731

Pathogenic

Tuberous sclerosis syndrome
Condition: not provided

Criteria Provided
Single Submitter

CA006060

rs_397514874

2 SubmittersRCV000055023 RCV000521121

NM_000368.5(TSC1):c.737+1G>T

SNV
Germline

Chr9:132921362

Pathogenic/Likely pathogenic

Tuberous sclerosis syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA008101

rs_118203438

3 SubmittersRCV000055031 RCV000498128 RCV002381356

NM_000368.5(TSC1):c.473T>C (p.Phe158Ser)

SNV
Germline

Chr9:132923383

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 1

Criteria Provided
Conflicting Classifications

CA007609

rs_118203385

4 SubmittersRCV000055032 RCV003480047 RCV002513716

NM_000368.5(TSC1):c.2776C>T (p.Gln926Ter)

SNV
Germline

Chr9:132897460

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 1
Lymphangiomyomatosis
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA006974

rs_397514879

4 SubmittersRCV000055038 RCV001853084 RCV002496734 RCV005638414

NM_000548.5(TSC2):c.3871G>A (p.Val1291Ile)

SNV
Germline

Chr16:2082492

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA019604

rs_201135184

9 SubmittersRCV000055045 RCV000164851 RCV000475134 RCV001703956

NM_000548.5(TSC2):c.1656A>G (p.Ala552=)

SNV
Germline

Chr16:2065575

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA015413

rs_373515515

9 SubmittersRCV000055049 RCV000989419 RCV001012581

NM_000548.5(TSC2):c.912G>A (p.Trp304Ter)

SNV
Germline

Chr16:2058810

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA023112

rs_397514884

2 SubmittersRCV000055050 RCV005089451

NM_000548.5(TSC2):c.4813C>T (p.Gln1605Ter)

SNV
Germline

Chr16:2086343

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA021019

rs_397514888

5 SubmittersRCV000055057 RCV001069066 RCV006445485

NM_000548.5(TSC2):c.1257+2T>G

SNV
Germline

Chr16:2062010

Pathogenic

Tuberous sclerosis syndrome
Condition: not provided

Criteria Provided
Single Submitter

CA014229

rs_45509697

2 SubmittersRCV000055064 RCV000516685

NM_000548.5(TSC2):c.1221C>A (p.Tyr407Ter)

SNV
Germline

Chr16:2061972

Likely pathogenic

Tuberous sclerosis syndrome
Isolated focal cortical dysplasia type II

Criteria Provided
Single Submitter

CA014091

rs_397514897

2 SubmittersRCV000055071 RCV003460649

NM_000548.5(TSC2):c.599+3A>G

SNV
Germline

Chr16:2055522

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA022636

rs_397514899

8 SubmittersRCV000055073 RCV000557913 RCV001529485 RCV002354246 RCV003466926

NM_000548.5(TSC2):c.3482C>T (p.Ala1161Val)

SNV
Germline

Chr16:2080249

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA019204

rs_397514901

5 SubmittersRCV000055075 RCV000644377 RCV002453368

NM_000548.5(TSC2):c.3814+1G>A

SNV
Germline

Chr16:2081799

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA019560

rs_397514902

2 SubmittersRCV000055076 RCV001853085

NM_000548.5(TSC2):c.1447G>T (p.Glu483Ter)

SNV
Germline

Chr16:2064275

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA014898

rs_397515297

4 SubmittersRCV000055085 RCV000201103 RCV000491130

NM_000548.5(TSC2):c.2688G>A (p.Trp896Ter)

SNV
Germline

Chr16:2076116

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA017887

rs_397514913

2 SubmittersRCV000055089 RCV000233779

NM_000548.5(TSC2):c.1864C>T (p.Arg622Trp)

SNV
Germline

Chr16:2071534

Pathogenic/Likely pathogenic

Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided
TSC2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA016088

rs_397514914

14 SubmittersRCV000055090 RCV000574001 RCV000644057 RCV001562207 RCV004537239

NM_000548.5(TSC2):c.1840-2A>G

SNV
Germline

Chr16:2071508

Pathogenic/Likely pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided
Lymphangiomyomatosis

Criteria Provided
Multiple Submitters
No Conflicts

CA015992

rs_45517205

4 SubmittersRCV000055096 RCV001853086 RCV004589546 RCV004798765

NM_000548.5(TSC2):c.3182T>C (p.Leu1061Pro)

SNV
Germline

Chr16:2079326

Likely pathogenic

Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Single Submitter

CA018665

rs_397514919

2 SubmittersRCV000055098 RCV000491308

NM_000548.5(TSC2):c.1583T>C (p.Leu528Pro)

SNV
Germline

Chr16:2064411

Likely pathogenic

Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA015160

rs_397514922

3 SubmittersRCV000055102 RCV003441735 RCV003512005

NM_000548.5(TSC2):c.1507C>T (p.Gln503Ter)

SNV
Germline

Chr16:2064335

Pathogenic

Tuberous sclerosis syndrome
Condition: not provided

Criteria Provided
Single Submitter

CA014993

rs_397514929

2 SubmittersRCV000055110 RCV001575872

NM_000548.5(TSC2):c.245G>A (p.Trp82Ter)

SNV
Germline

Chr16:2053361

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA017462

rs_397514933

2 SubmittersRCV000055114 RCV001853087

NM_000548.5(TSC2):c.2531T>C (p.Leu844Pro)

SNV
Germline

Chr16:2074375

Pathogenic/Likely pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA017563

rs_397515303

3 SubmittersRCV000055123 RCV001253278

NM_000548.5(TSC2):c.4006-2A>G

SNV
Germline

Chr16:2084226

Pathogenic/Likely pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Lymphangiomyomatosis

Criteria Provided
Multiple Submitters
No Conflicts

CA019821

rs_397514941

3 SubmittersRCV000055124 RCV001241710 RCV002247449

NM_000548.5(TSC2):c.3377A>T (p.Asp1126Val)

SNV
Germline

Chr16:2079649

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA019052

rs_397514945

10 SubmittersRCV000055129 RCV000465863 RCV001020133 RCV001697040 RCV004799769

NM_000548.5(TSC2):c.170G>A (p.Arg57His)

SNV
Germline

Chr16:2050431

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA015456

rs_397514949

5 SubmittersRCV000055135 RCV000472366 RCV002399416 RCV003482235

NM_000548.5(TSC2):c.1840-1G>A

SNV
Germline/somatic

Chr16:2071509

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA015975

rs_397514953

2 SubmittersRCV000055139 RCV002266919

NM_000548.5(TSC2):c.1281C>G (p.Ile427Met)

SNV
Germline

Chr16:2062520

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA014342

rs_45478892

7 SubmittersRCV000055143 RCV000463226 RCV001010730 RCV002490630 RCV004998177

NM_000548.5(TSC2):c.3943C>T (p.Pro1315Ser)

SNV
Germline

Chr16:2083754

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA019722

rs_397514916

3 SubmittersRCV000055150 RCV001853088 RCV002371894

NM_000548.5(TSC2):c.1922G>T (p.Ser641Ile)

SNV
Germline

Chr16:2071592

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA016207

rs_397514964

3 SubmittersRCV000055155 RCV005089453 RCV006287159

NM_000548.5(TSC2):c.1040A>G (p.Lys347Arg)

SNV
Germline

Chr16:2060734

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA013642

rs_367963898

8 SubmittersRCV000055159 RCV001009773 RCV001079443

NM_000548.5(TSC2):c.2859C>T (p.Pro953=)

SNV
Germline

Chr16:2077619

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA018284

rs_397514968

9 SubmittersRCV000055161 RCV000527425 RCV001088583 RCV002433550

NM_000548.5(TSC2):c.975+1G>T

SNV
Germline

Chr16:2058874

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA023206

rs_137854200

2 SubmittersRCV000055163 RCV000989416

NM_000548.5(TSC2):c.3310C>T (p.Gln1104Ter)

SNV
Germline

Chr16:2079582

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA018873

rs_397514978

3 SubmittersRCV000055175 RCV000814891

NM_000548.5(TSC2):c.3623G>A (p.Trp1208Ter)

SNV
Germline

Chr16:2081607

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA019419

rs_397514979

2 SubmittersRCV000055176 RCV000460919

NM_000548.5(TSC2):c.1492G>A (p.Glu498Lys)

SNV
Germline

Chr16:2064320

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
not specified
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Lymphangiomyomatosis
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA014970

rs_45517178

7 SubmittersRCV000055190 RCV000189888 RCV001853090 RCV002390202 RCV003480048 RCV005016352

NM_000548.5(TSC2):c.481+5G>A

SNV
Germline

Chr16:2054445

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA021022

rs_137854135

2 SubmittersRCV000055192 RCV001039974

NM_000548.5(TSC2):c.1564C>T (p.His522Tyr)

SNV
Germline

Chr16:2064392

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA015081

rs_397514991

3 SubmittersRCV000055196 RCV000547543 RCV003298099

NM_000548.5(TSC2):c.2370C>A (p.Tyr790Ter)

SNV
Germline

Chr16:2074214

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA017302

rs_45517232

2 SubmittersRCV000055199 RCV005089454

NM_000548.5(TSC2):c.1514G>A (p.Arg505Gln)

SNV
Germline

Chr16:2064342

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA015034

rs_376285784

6 SubmittersRCV000055200 RCV000688733 RCV001011980 RCV001085948

NM_000548.5(TSC2):c.1946+1G>C

SNV
Germline

Chr16:2071617

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA016266

rs_397514994

2 SubmittersRCV000055202 RCV006461334

NM_000548.5(TSC2):c.4078G>T (p.Glu1360Ter)

SNV
Germline

Chr16:2084300

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA019910

rs_397514997

2 SubmittersRCV000055207 RCV002513717

NM_000548.5(TSC2):c.3884-1G>C

SNV
Germline

Chr16:2083694

Pathogenic

Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA019636

rs_137854079

5 SubmittersRCV000055209 RCV001508404 RCV001250501

NM_000548.5(TSC2):c.4024C>T (p.Gln1342Ter)

SNV
Germline

Chr16:2084246

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA019843

rs_397515003

3 SubmittersRCV000055216 RCV001387404 RCV004998178

NM_000548.5(TSC2):c.734G>A (p.Arg245His)

SNV
Germline

Chr16:2056729

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Tuberous sclerosis 2
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA022905

rs_397515011

11 SubmittersRCV000055226 RCV000234531 RCV000248644 RCV000570250

NM_000548.5(TSC2):c.4787G>T (p.Gly1596Val)

SNV
Germline

Chr16:2086317

Pathogenic

Tuberous sclerosis syndrome
Condition: not provided

Criteria Provided
Single Submitter

CA021002

rs_397515014

2 SubmittersRCV000055229 RCV005252721

NM_000548.5(TSC2):c.700G>T (p.Glu234Ter)

SNV
Germline

Chr16:2056695

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA022813

rs_397515018

2 SubmittersRCV000055233 RCV006461335

NM_000548.5(TSC2):c.3814+1G>C

SNV
Germline

Chr16:2081799

Likely pathogenic

Tuberous sclerosis syndrome
Condition: not provided

Criteria Provided
Single Submitter

CA019563

rs_397514902

2 SubmittersRCV000055237 RCV003114236

NM_000548.5(TSC2):c.340G>T (p.Glu114Ter)

SNV
Germline

Chr16:2054299

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA019116

rs_397515021

2 SubmittersRCV000055238 RCV002515743

NM_000548.5(TSC2):c.337-1G>A

SNV
Germline

Chr16:2054295

Pathogenic

Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA019014

rs_45517105

5 SubmittersRCV000055243 RCV000518372 RCV000553650

NM_000548.5(TSC2):c.4168G>T (p.Glu1390Ter)

SNV
Germline

Chr16:2084390

Pathogenic

Tuberous sclerosis syndrome
Condition: not provided
Cervical cancer

Criteria Provided
Single Submitter

CA020028

rs_397515033

3 SubmittersRCV000055256 RCV003441736 RCV005890369

NM_000548.5(TSC2):c.585C>A (p.Ile195=)

SNV
Germline

Chr16:2055505

Likely pathogenic

Tuberous sclerosis syndrome

Criteria Provided
Single Submitter

CA022589

rs_397515309

2 SubmittersRCV000055257

NM_000548.5(TSC2):c.4030G>T (p.Glu1344Ter)

SNV
Germline

Chr16:2084252

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

No Assertion Criteria Provided

CA019846

rs_397515035

2 SubmittersRCV000055259 RCV001194685

NM_000548.5(TSC2):c.187C>T (p.Gln63Ter)

SNV
Germline

Chr16:2050448

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA016129

rs_397515039

2 SubmittersRCV000055264 RCV005600634

NM_000548.5(TSC2):c.2750G>A (p.Arg917Gln)

SNV
Germline

Chr16:2076498

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA018086

rs_397515046

9 SubmittersRCV000055272 RCV000574785 RCV000533205 RCV001531839

NM_000548.5(TSC2):c.2665G>C (p.Ala889Pro)

SNV
Germline

Chr16:2076093

Likely pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA017834

rs_397515054

2 SubmittersRCV000055281 RCV001853092

NM_000548.5(TSC2):c.1678G>A (p.Val560Met)

SNV
Germline

Chr16:2065597

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Condition: not provided
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA015425

rs_141631268

10 SubmittersRCV000055282 RCV000562096 RCV000765264 RCV000782250 RCV001080544

NM_000548.5(TSC2):c.573C>T (p.Leu191=)

SNV
Germline

Chr16:2055493

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA022574

rs_397515059

8 SubmittersRCV000055288 RCV000552561 RCV001024464 RCV004772835

NM_000548.5(TSC2):c.1754G>A (p.Arg585His)

SNV
Germline

Chr16:2070493

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA015651

rs_397515063

9 SubmittersRCV000055294 RCV000544349 RCV000567865

NM_000548.5(TSC2):c.4515C>G (p.Tyr1505Ter)

SNV
Germline

Chr16:2084972

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA020588

rs_45471791

3 SubmittersRCV000055298 RCV001281109

NM_000548.5(TSC2):c.1257+1G>A

SNV
Germline

Chr16:2062009

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA014198

rs_397515066

5 SubmittersRCV000055300 RCV000680620

NM_000548.5(TSC2):c.849-1G>C

SNV
Germline

Chr16:2058746

Pathogenic/Likely pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA023041

rs_45506396

3 SubmittersRCV000055302 RCV000660341

NM_000548.5(TSC2):c.4643T>C (p.Leu1548Pro)

SNV
Germline

Chr16:2085303

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA020803

rs_397515070

2 SubmittersRCV000055306 RCV003512006

NM_000548.5(TSC2):c.2742+5G>A

SNV
Germline

Chr16:2076175

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA018002

rs_397515076

2 SubmittersRCV000055312 RCV001853093

NM_000548.5(TSC2):c.622C>T (p.Arg208Trp)

SNV
Germline

Chr16:2056218

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA022695

rs_374410454

10 SubmittersRCV000055314 RCV000533936 RCV001553178 RCV002255276

NM_000548.5(TSC2):c.2632C>T (p.Pro878Ser)

SNV
Germline

Chr16:2075885

Conflicting classifications of pathogenicity

Autism spectrum disorder
Tuberous sclerosis syndrome
not specified
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA017740

rs_397515077

10 SubmittersRCV000055380 RCV000055315 RCV000189909 RCV000562671 RCV000644061 RCV004998179

NM_000548.5(TSC2):c.190A>G (p.Ile64Val)

SNV
Germline

Chr16:2050451

Conflicting classifications of pathogenicity

Autism spectrum disorder
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA016191

rs_397515081

8 SubmittersRCV000055320 RCV000644085 RCV001118864 RCV002408557 RCV003466927

NM_000548.5(TSC2):c.3236C>A (p.Ser1079Ter)

SNV
Germline

Chr16:2079380

Pathogenic/Likely pathogenic

Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2
Lymphangiomyomatosis
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II

Criteria Provided
Multiple Submitters
No Conflicts

CA018734

rs_397515087

4 SubmittersRCV000055329 RCV000190073 RCV001853094 RCV002496738

NM_000548.5(TSC2):c.973C>T (p.Gln325Ter)

SNV
Germline

Chr16:2058871

Pathogenic/Likely pathogenic

Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA023195

rs_397515097

5 SubmittersRCV000055343 RCV002371895 RCV002250551 RCV005434624

NM_000548.5(TSC2):c.1599+5G>A

SNV
Germline

Chr16:2064432

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA015213

rs_397515100

4 SubmittersRCV000055346 RCV001012363 RCV000816898

NM_000548.5(TSC2):c.225+2T>A

SNV
Germline

Chr16:2050488

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA017093

rs_397515105

2 SubmittersRCV000055351 RCV005089455

NM_000548.5(TSC2):c.910T>C (p.Trp304Arg)

SNV
Germline

Chr16:2058808

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided
Lymphangiomyomatosis
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Hereditary cancer-predisposing syndrome
TSC2-related disorder

Criteria Provided
Conflicting Classifications

CA023104

rs_397515108

11 SubmittersRCV000055358 RCV000795349 RCV001562466 RCV002054888 RCV002371896 RCV004528260

NM_000548.5(TSC2):c.5072T>C (p.Met1691Thr)

SNV
Germline

Chr16:2088051

Conflicting classifications of pathogenicity

Autism spectrum disorder
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
TSC2-related disorder
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA021670

rs_397515110

8 SubmittersRCV000055361 RCV000644174 RCV002336202 RCV003996478 RCV004537241 RCV005007983 RCV005054153

NM_000548.5(TSC2):c.1361+2T>C

SNV
Germline

Chr16:2062602

Likely pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA014520

rs_397515301

2 SubmittersRCV000055366 RCV003985724

NM_000548.5(TSC2):c.4850-2A>C

SNV
Germline

Chr16:2086730

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA021121

rs_397515315

2 SubmittersRCV000055367 RCV006436422

NM_000548.5(TSC2):c.5017G>T (p.Val1673Phe)

SNV
Germline

Chr16:2087890

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA021508

rs_45490993

3 SubmittersRCV000055369 RCV001342211 RCV002336203

NM_000548.5(TSC2):c.226-1G>A

SNV
Germline

Chr16:2053341

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
TSC2-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA017118

rs_397515134

5 SubmittersRCV000055397 RCV001379463 RCV004018982 RCV004537243 RCV005429221

NM_000548.5(TSC2):c.1819G>T (p.Ala607Ser)

SNV
Germline

Chr16:2070558

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA015864

rs_45517203

3 SubmittersRCV000055401 RCV002513720 RCV003380408

NM_000548.5(TSC2):c.1033C>T (p.Leu345Phe)

SNV
Germline

Chr16:2060727

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Condition: not provided

Criteria Provided
Conflicting Classifications

CA013622

rs_397515146

7 SubmittersRCV000055413 RCV000539242 RCV000765261 RCV001355778

NM_000548.5(TSC2):c.4489C>T (p.Pro1497Ser)

SNV
Germline

Chr16:2084711

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA020513

rs_45517344

3 SubmittersRCV000055424 RCV001230160 RCV003332112

NM_000548.5(TSC2):c.1840-3C>G

SNV
Germline

Chr16:2071507

Likely pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA016005

rs_397515154

3 SubmittersRCV000055428 RCV001853095

NM_000548.5(TSC2):c.4957T>C (p.Ser1653Pro)

SNV
Germline

Chr16:2086839

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA021390

rs_397515159

2 SubmittersRCV000055434 RCV000989440

NM_000548.5(TSC2):c.5155G>A (p.Ala1719Thr)

SNV
Germline

Chr16:2088134

Conflicting classifications of pathogenicity

Autism spectrum disorder
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA021901

rs_201206500

7 SubmittersRCV000055435 RCV000468508 RCV000572428 RCV003162430 RCV003996480

NM_000548.5(TSC2):c.1001T>C (p.Val334Ala)

SNV
Germline

Chr16:2060695

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA013517

rs_45484892

4 SubmittersRCV000055437 RCV001730486 RCV002381358

NM_000548.5(TSC2):c.2197C>G (p.Leu733Val)

SNV
Germline

Chr16:2072340

Pathogenic/Likely pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA016903

rs_397515163

3 SubmittersRCV000055442 RCV002051805

NM_000548.5(TSC2):c.292C>T (p.Arg98Trp)

SNV
Germline

Chr16:2053408

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA018319

rs_372321790

10 SubmittersRCV000055443 RCV000573567 RCV000989413 RCV001555447

NM_000548.5(TSC2):c.4498G>A (p.Val1500Met)

SNV
Germline

Chr16:2084955

Conflicting classifications of pathogenicity

Lymphangiomyomatosis
Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
not specified
Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA020558

rs_397515167

7 SubmittersRCV000055449 RCV000166370 RCV000518605 RCV000813618 RCV003996481

NM_000548.5(TSC2):c.3581G>A (p.Trp1194Ter)

SNV
Germline

Chr16:2080348

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA019307

rs_397515168

3 SubmittersRCV000055451 RCV003512007 RCV006449975

NM_000548.5(TSC2):c.3611-2A>T

SNV
Germline

Chr16:2081593

Likely pathogenic

Tuberous sclerosis syndrome
Condition: not provided

Criteria Provided
Single Submitter

CA019377

rs_397515169

2 SubmittersRCV000055453 RCV003886372

NM_000548.5(TSC2):c.5160+2T>C

SNV
Germline/somatic

Chr16:2088141

Pathogenic

Tuberous sclerosis 2
Tuberous sclerosis syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA021940

rs_397515170

4 SubmittersRCV000722175 RCV000055455 RCV000579195

NM_000548.5(TSC2):c.4928A>G (p.Asn1643Ser)

SNV
Germline

Chr16:2086810

Likely pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA021305

rs_45517380

2 SubmittersRCV000055457 RCV006461337

NM_000548.5(TSC2):c.774+1G>T

SNV
Germline

Chr16:2056770

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA022944

rs_45517128

2 SubmittersRCV000055458 RCV002513722

NM_000548.5(TSC2):c.4859A>G (p.His1620Arg)

SNV
Germline/somatic

Chr16:2086741

Likely pathogenic

Tuberous sclerosis syndrome
Everolimus response
Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA021150

rs_397515177

3 SubmittersRCV000055464 RCV000590930 RCV002513723

NM_000548.5(TSC2):c.3284+1G>C

SNV
Germline

Chr16:2079429

Pathogenic

Tuberous sclerosis syndrome
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Tuberous sclerosis 2
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA018815

rs_45517289

3 SubmittersRCV000055466 RCV005016353 RCV005089456

NM_000548.5(TSC2):c.976-14G>A

SNV
Germline

Chr16:2060656

Likely pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA023216

rs_397515186

2 SubmittersRCV000055477 RCV006461339

NM_000548.5(TSC2):c.1298C>G (p.Ser433Cys)

SNV
Germline

Chr16:2062537

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA014387

rs_397515187

6 SubmittersRCV000055478 RCV000475576 RCV001010823

NM_000548.5(TSC2):c.2220+1G>A

SNV
Germline

Chr16:2072364

Pathogenic

Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA016941

rs_137854361

3 SubmittersRCV000055480 RCV004998181 RCV005089457

NM_000548.5(TSC2):c.1019T>C (p.Leu340Pro)

SNV
Germline

Chr16:2060713

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA013603

rs_397515192

3 SubmittersRCV000055485 RCV001221077

NM_000548.5(TSC2):c.2640-1G>A

SNV
Germline

Chr16:2076067

Pathogenic

Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA017781

rs_397515203

3 SubmittersRCV000055498 RCV000518987 RCV001853097

NM_000548.5(TSC2):c.1343T>C (p.Leu448Pro)

SNV
Germline

Chr16:2062582

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA014458

rs_397515206

4 SubmittersRCV000055502 RCV000760985

NM_000548.5(TSC2):c.3197T>C (p.Leu1066Pro)

SNV
Germline

Chr16:2079341

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA018667

rs_397515207

4 SubmittersRCV000055504 RCV000498705 RCV002298458

NM_000548.5(TSC2):c.3G>A (p.Met1Ile)

SNV
Germline

Chr16:2048618

Likely pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA019804

rs_397515208

2 SubmittersRCV000055506 RCV003512008

NM_000548.5(TSC2):c.3989C>T (p.Thr1330Met)

SNV
Germline

Chr16:2083800

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Autism spectrum disorder
not specified
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
TSC2-related disorder

Criteria Provided
Conflicting Classifications

CA019782

rs_397515209

12 SubmittersRCV000055604 RCV000055507 RCV000190025 RCV000458400 RCV000571810 RCV001703964 RCV004542721

NM_000548.5(TSC2):c.5035G>A (p.Glu1679Lys)

SNV
Germline

Chr16:2087908

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Tuberous sclerosis 2
TSC2-related disorder

Criteria Provided
Conflicting Classifications

CA021570

rs_370404391

12 SubmittersRCV000055511 RCV000163808 RCV000189940 RCV000585252 RCV001081308 RCV004537246

NM_000548.5(TSC2):c.5228G>T (p.Arg1743Leu)

SNV
Germline

Chr16:2088294

Likely pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA022229

rs_45507199

2 SubmittersRCV000055513 RCV001814036

NM_000548.5(TSC2):c.2743-9C>G

SNV
Germline

Chr16:2076482

Pathogenic

Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA018065

rs_397515319

3 SubmittersRCV000055522 RCV000490107 RCV000816368

NM_000548.5(TSC2):c.4868C>T (p.Thr1623Ile)

SNV
Germline

Chr16:2086750

Pathogenic/Likely pathogenic

Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA021153

rs_397515220

4 SubmittersRCV000055523 RCV000413607 RCV001854154

NM_000548.5(TSC2):c.4493G>C (p.Ser1498Thr)

SNV
Germline

Chr16:2084715

Likely pathogenic

Tuberous sclerosis syndrome
TSC2-related disorder
See cases
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA020540

rs_137854879

4 SubmittersRCV000055526 RCV004537247 RCV004584341 RCV006456665

NM_000548.5(TSC2):c.3131G>A (p.Arg1044Lys)

SNV
Germline

Chr16:2079196

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA018596

rs_397515302

2 SubmittersRCV000055531 RCV001388145

NM_000548.5(TSC2):c.26C>G (p.Ser9Ter)

SNV
Germline

Chr16:2048641

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA017918

rs_397515228

2 SubmittersRCV000055535 RCV001248431

NM_000548.5(TSC2):c.4700G>T (p.Gly1567Val)

SNV
Germline

Chr16:2086230

Likely pathogenic

Tuberous sclerosis syndrome
Condition: not provided

Criteria Provided
Single Submitter

CA020919

rs_45517364

2 SubmittersRCV000055542 RCV005055554

NM_000548.5(TSC2):c.2113G>A (p.Val705Met)

SNV
Germline

Chr16:2072256

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA016792

rs_397515241

8 SubmittersRCV000055552 RCV000494277 RCV000660343 RCV002415509

NM_000548.5(TSC2):c.4448G>C (p.Arg1483Thr)

SNV
Germline

Chr16:2084670

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA020481

rs_370114027

8 SubmittersRCV000055556 RCV000475203 RCV000566285 RCV000831461

NM_000548.5(TSC2):c.1789C>T (p.His597Tyr)

SNV
Germline

Chr16:2070528

Likely pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II

Criteria Provided
Single Submitter

CA015730

rs_397515246

3 SubmittersRCV000055558 RCV001824119 RCV005016354

NM_000548.5(TSC2):c.1946+2T>C

SNV
Germline

Chr16:2071618

Pathogenic

Tuberous sclerosis syndrome
Condition: not provided
Uterine corpus endometrial carcinoma
Nonpapillary renal cell carcinoma

Criteria Provided
Single Submitter

CA016272

rs_397515247

4 SubmittersRCV000055559 RCV001580377 RCV005890372 RCV005890371

NM_000548.5(TSC2):c.656T>C (p.Leu219Pro)

SNV
Germline

Chr16:2056651

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA022749

rs_397515249

4 SubmittersRCV000055561 RCV001053191 RCV004700354

NM_000548.5(TSC2):c.3083A>G (p.Asp1028Gly)

SNV
Germline

Chr16:2079148

Likely pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA018479

rs_397515255

2 SubmittersRCV000055568 RCV006612212

NM_000548.5(TSC2):c.1443+1G>T

SNV
Germline

Chr16:2063054

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA014818

rs_397515257

2 SubmittersRCV000055570 RCV000466789

NM_000548.5(TSC2):c.340G>A (p.Glu114Lys)

SNV
Germline

Chr16:2054299

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA019111

rs_397515021

6 SubmittersRCV000055573 RCV000227736 RCV001020231

NM_000548.5(TSC2):c.1384C>T (p.Arg462Cys)

SNV
Germline

Chr16:2062994

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA014666

rs_397515261

6 SubmittersRCV000055574 RCV000703585 RCV003298102 RCV005429222

NM_000548.5(TSC2):c.2545+2T>C

SNV
Germline

Chr16:2074391

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA017604

rs_397515262

2 SubmittersRCV000055575 RCV003512010

NM_000548.5(TSC2):c.4142C>T (p.Pro1381Leu)

SNV
Germline

Chr16:2084364

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA020000

rs_397515264

4 SubmittersRCV000055577 RCV000475654 RCV003162432

NM_000548.5(TSC2):c.4136C>T (p.Ser1379Leu)

SNV
Germline

Chr16:2084358

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis 2
TSC2-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA019991

rs_137854065

14 SubmittersRCV000055582 RCV000575789 RCV000731274 RCV001083321 RCV004537249 RCV005890373

NM_000548.5(TSC2):c.5164G>C (p.Ala1722Pro)

SNV
Germline

Chr16:2088230

Likely pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA022052

rs_397515270

2 SubmittersRCV000055584 RCV005089460

NM_000548.5(TSC2):c.5123T>C (p.Leu1708Pro)

SNV
Germline

Chr16:2088102

Likely pathogenic

Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Single Submitter

CA021783

rs_397515274

2 SubmittersRCV000055589 RCV002345361

NM_000548.5(TSC2):c.4707C>G (p.Tyr1569Ter)

SNV
Germline

Chr16:2086237

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA020928

rs_397515277

2 SubmittersRCV000055592 RCV002513725

NM_000548.5(TSC2):c.4850-2A>G

SNV
Germline

Chr16:2086730

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA021123

rs_397515315

3 SubmittersRCV000055594 RCV001250762

NM_000548.5(TSC2):c.3203C>T (p.Thr1068Ile)

SNV
Germline

Chr16:2079347

Pathogenic

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA018678

rs_397515284

3 SubmittersRCV000055605 RCV001042510

NM_000548.5(TSC2):c.454C>G (p.His152Asp)

SNV
Germline

Chr16:2054413

Conflicting classifications of pathogenicity

Autism spectrum disorder
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA020642

rs_397515285

9 SubmittersRCV000055607 RCV000465969 RCV000575914 RCV001557660 RCV003996482

NM_000548.5(TSC2):c.2009C>T (p.Pro670Leu)

SNV
Germline

Chr16:2071846

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
not specified
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
TSC2-related disorder
Epilepsy

Criteria Provided
Conflicting Classifications

CA016425

rs_397515288

14 SubmittersRCV000055611 RCV000189898 RCV000204401 RCV000567608 RCV004542724 RCV005625258

NM_000488.4(SERPINC1):c.1016G>A (p.Trp339Ter)

SNV
Germline

Chr1:173909689

Pathogenic

Tuberous sclerosis 2
Hereditary antithrombin deficiency

Reviewed By Expert Panel

CA150667

rs_483352856

3 SubmittersRCV000087276 RCV001857426

NM_000488.4(SERPINC1):c.641C>A (p.Ser214Tyr)

SNV
Germline

Chr1:173910875

Likely pathogenic

Tuberous sclerosis 2
Hereditary antithrombin deficiency

Criteria Provided
Single Submitter

CA150697

rs_483352854

2 SubmittersRCV000087290 RCV002514538

NM_000368.5(TSC1):c.1369A>C (p.Ser457Arg)

SNV
Germline

Chr9:132906800

Conflicting classifications of pathogenicity

not specified
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Ovarian cancer
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA004748

rs_587778722

10 SubmittersRCV000122188 RCV000475364 RCV000562597 RCV001704038 RCV003153402 RCV003997359

NM_000368.5(TSC1):c.1921C>T (p.Pro641Ser)

SNV
Germline

Chr9:132905657

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis 1
TSC1-related disorder
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA005597

rs_374222196

13 SubmittersRCV000122190 RCV000163665 RCV000725780 RCV001080054 RCV003945105 RCV005401329

NM_000368.5(TSC1):c.3140C>T (p.Thr1047Ile)

SNV
Germline

Chr9:132896590

Conflicting classifications of pathogenicity

not specified
Tuberous sclerosis 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA007195

rs_587778726

9 SubmittersRCV000122195 RCV000545661 RCV001707532 RCV002321603 RCV003997360

NM_000548.5(TSC2):c.1066G>C (p.Val356Leu)

SNV
Germline

Chr16:2060760

Conflicting classifications of pathogenicity

not specified
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA013667

rs_587778728

8 SubmittersRCV000122203 RCV000471776 RCV000561439 RCV001537839 RCV006547618

NM_000548.5(TSC2):c.1600G>T (p.Val534Leu)

SNV
Germline

Chr16:2065519

Conflicting classifications of pathogenicity

not specified
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA015286

rs_587778729

9 SubmittersRCV000122207 RCV000951521 RCV001012373 RCV001117452 RCV003237731

NM_000548.5(TSC2):c.1820C>T (p.Ala607Val)

SNV
Germline

Chr16:2070559

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA015881

rs_397515296

11 SubmittersRCV000122208 RCV000464888 RCV000561143 RCV001086928 RCV003997361

NM_000548.5(TSC2):c.1912G>A (p.Val638Met)

SNV
Germline

Chr16:2071582

Conflicting classifications of pathogenicity

not specified
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
TSC2-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA016199

rs_587778730

7 SubmittersRCV000122210 RCV000807299 RCV001013672 RCV003997362 RCV004542921 RCV006259028

NM_000548.5(TSC2):c.2768C>G (p.Ser923Cys)

SNV
Germline

Chr16:2076516

Conflicting classifications of pathogenicity

not specified
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA018139

rs_587778731

7 SubmittersRCV000122215 RCV000817259 RCV002256079 RCV003148650 RCV003447498 RCV003997363

NM_000548.5(TSC2):c.595G>C (p.Val199Leu)

SNV
Germline

Chr16:2055515

Conflicting classifications of pathogenicity

not specified
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA022614

rs_587778733

4 SubmittersRCV000122219 RCV000810100 RCV006287162 RCV005016422

NM_000548.5(TSC2):c.846C>A (p.Asp282Glu)

SNV
Germline

Chr16:2057176

Conflicting classifications of pathogenicity

not specified
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA023019

rs_587778734

5 SubmittersRCV000122220 RCV000550508 RCV001017849 RCV003997364

NM_000548.5(TSC2):c.3542C>T (p.Thr1181Met)

SNV
Germline

Chr16:2080309

Conflicting classifications of pathogenicity

not specified
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA019264

rs_373481458

6 SubmittersRCV000122224 RCV000820253 RCV001020564

NM_000548.5(TSC2):c.3962A>T (p.Glu1321Val)

SNV
Germline

Chr16:2083773

Conflicting classifications of pathogenicity

not specified
Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA019757

rs_587778736

10 SubmittersRCV000122228 RCV000644076 RCV001556535 RCV003298144 RCV003460863 RCV003997365

NM_000548.5(TSC2):c.3963G>C (p.Glu1321Asp)

SNV
Germline

Chr16:2083774

Conflicting classifications of pathogenicity

not specified
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA019763

rs_587778737

7 SubmittersRCV000122230 RCV000644130 RCV001021539 RCV003997366

NM_000548.5(TSC2):c.4007C>T (p.Ser1336Leu)

SNV
Germline

Chr16:2084229

Conflicting classifications of pathogenicity

not specified
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
TSC2-related disorder

Criteria Provided
Conflicting Classifications

CA019831

rs_148527903

14 SubmittersRCV000122231 RCV000227253 RCV000350281 RCV000490949 RCV000858996 RCV004542922

NM_000548.5(TSC2):c.4106G>A (p.Arg1369Gln)

SNV
Germline

Chr16:2084328

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
TSC2-related disorder
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA019956

rs_587778738

10 SubmittersRCV000122232 RCV000564577 RCV000644340 RCV004734661 RCV006547622

NM_000548.5(TSC2):c.4465G>A (p.Ala1489Thr)

SNV
Germline

Chr16:2084687

Conflicting classifications of pathogenicity

not specified
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA020493

rs_587778740

5 SubmittersRCV000122237 RCV000706466 RCV001022523 RCV004804120

NM_000548.5(TSC2):c.4901G>A (p.Arg1634His)

SNV
Germline

Chr16:2086783

Conflicting classifications of pathogenicity

not specified
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA021194

rs_201694466

8 SubmittersRCV000122239 RCV000477100 RCV000572602 RCV005243120 RCV006547623

NM_000368.5(TSC1):c.201A>G (p.Pro67=)

SNV
Germline

Chr9:132927210

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA005771

rs_371555137

13 SubmittersRCV000125623 RCV000567969 RCV001082445 RCV000731870 RCV003997434

NM_000368.5(TSC1):c.2502+18A>C

SNV
Germline

Chr9:132901571

Conflicting classifications of pathogenicity

not specified
Tuberous sclerosis 1
Condition: not provided
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA006521

rs_200908079

6 SubmittersRCV000125632 RCV002055588 RCV003221814 RCV002498608 RCV004017412

NM_000548.5(TSC2):c.2742+4G>A

SNV
Germline

Chr16:2076174

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
not specified
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA017999

rs_587781683

6 SubmittersRCV000129846 RCV000473206 RCV000610131 RCV006547626

NM_000548.5(TSC2):c.3323C>T (p.Ala1108Val)

SNV
Germline

Chr16:2079595

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA018885

rs_587781782

5 SubmittersRCV000130032 RCV000836828 RCV001087672 RCV003997543

NM_000548.5(TSC2):c.2257G>A (p.Ala753Thr)

SNV
Germline

Chr16:2072885

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
TSC2-related disorder
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA017108

rs_574205203

6 SubmittersRCV000130092 RCV000530366 RCV004528853 RCV006547628

NM_000368.5(TSC1):c.941C>T (p.Thr314Met)

SNV
Germline

Chr9:132911541

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Tuberous sclerosis 1
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA008439

rs_373454700

10 SubmittersRCV000130736 RCV000726223 RCV000764813 RCV001084392 RCV003998074

NM_000548.5(TSC2):c.1785G>A (p.Gln595=)

SNV
Germline

Chr16:2070524

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA015710

rs_150352976

7 SubmittersRCV000155581 RCV001013173 RCV001400507 RCV005641515

NM_000368.5(TSC1):c.3408T>A (p.Asp1136Glu)

SNV
Germline

Chr9:132896322

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome
not specified

Criteria Provided
Conflicting Classifications

CA007356

rs_751398082

7 SubmittersRCV000164106 RCV000463228 RCV003474851 RCV003995315 RCV006456757

NM_000368.5(TSC1):c.3024T>G (p.Asn1008Lys)

SNV
Germline

Chr9:132896706

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis 1
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA007132

rs_142954164

7 SubmittersRCV000166118 RCV000733529 RCV001082367 RCV006547707

NM_000368.5(TSC1):c.2922C>T (p.Leu974=)

SNV
Germline

Chr9:132897237

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Condition: not provided
TSC1-related disorder
Tuberous sclerosis syndrome
not specified
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 1

Criteria Provided
Conflicting Classifications

CA007094

rs_769389702

12 SubmittersRCV000163671 RCV000231914 RCV001165537 RCV001704175 RCV003945275 RCV003995270 RCV004782266 RCV005394590

NM_000368.5(TSC1):c.2312T>C (p.Met771Thr)

SNV
Germline

Chr9:132902684

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA006280

rs_760208449

5 SubmittersRCV000164860 RCV000983928 RCV003995371

NM_000368.5(TSC1):c.2065C>T (p.Arg689Cys)

SNV
Germline

Chr9:132903794

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis 1
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA005878

rs_202241429

8 SubmittersRCV000164473 RCV000439211 RCV001086626 RCV006547702

NM_000368.5(TSC1):c.2057A>G (p.Asp686Gly)

SNV
Germline

Chr9:132903802

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA005874

rs_786201465

4 SubmittersRCV000163698 RCV000641974 RCV004804718

NM_000368.5(TSC1):c.1751G>C (p.Ser584Thr)

SNV
Germline

Chr9:132905827

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis 1

Criteria Provided
Conflicting Classifications

CA005341

rs_786203799

4 SubmittersRCV000167260 RCV001167197 RCV001167198

NM_000368.5(TSC1):c.1685C>G (p.Ala562Gly)

SNV
Germline

Chr9:132905893

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Condition: not provided
not specified
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA005191

rs_377185303

8 SubmittersRCV000165896 RCV000468971 RCV001721075 RCV001818385 RCV006547706

NM_000368.5(TSC1):c.1580A>G (p.Gln527Arg)

SNV
Germline

Chr9:132905998

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Tuberous sclerosis syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 1

Criteria Provided
Conflicting Classifications

CA005092

rs_767708806

6 SubmittersRCV000163699 RCV000641964 RCV003995272 RCV005042325

NM_000368.5(TSC1):c.379G>A (p.Val127Ile)

SNV
Germline

Chr9:132923477

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Tuberous sclerosis 1
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA007499

rs_372215435

6 SubmittersRCV000163960 RCV000241553 RCV000766818 RCV001079421 RCV006547700

NM_000548.5(TSC2):c.560A>G (p.Asn187Ser)

SNV
Germline

Chr16:2055480

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA022534

rs_45505405

9 SubmittersRCV000163373 RCV000190050 RCV000765260 RCV001086110 RCV003995252

NM_000548.5(TSC2):c.629C>T (p.Ala210Val)

SNV
Germline

Chr16:2056225

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA022710

rs_764925296

7 SubmittersRCV000167112 RCV000233190 RCV001721086 RCV003995559

NM_000548.5(TSC2):c.944C>T (p.Ser315Leu)

SNV
Germline

Chr16:2058842

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA023151

rs_202082319

6 SubmittersRCV000166873 RCV000553448 RCV001762388 RCV003995539

NM_000548.5(TSC2):c.1095C>T (p.Ile365=)

SNV
Germline

Chr16:2060789

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA013749

rs_757135168

10 SubmittersRCV000163999 RCV000227075 RCV001118950 RCV001548088

NM_000548.5(TSC2):c.1244C>T (p.Ala415Val)

SNV
Germline

Chr16:2061995

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Tuberous sclerosis syndrome
Tuberous sclerosis 2
TSC2-related disorder

Criteria Provided
Conflicting Classifications

CA014143

rs_374936223

15 SubmittersRCV000163295 RCV000189884 RCV000726305 RCV001120921 RCV001081464 RCV004544488

NM_000548.5(TSC2):c.1588A>G (p.Ile530Val)

SNV
Germline

Chr16:2064416

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA015168

rs_786203470

5 SubmittersRCV000166788 RCV000536283 RCV003995532

NM_000548.5(TSC2):c.1883G>A (p.Arg628His)

SNV
Germline

Chr16:2071553

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA016151

rs_774895427

5 SubmittersRCV000165847 RCV000531841 RCV001548583 RCV003995458

NM_000548.5(TSC2):c.2071C>T (p.Arg691Cys)

SNV
Germline

Chr16:2071908

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Tuberous sclerosis 2
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA016553

rs_760489473

11 SubmittersRCV000163633 RCV000189993 RCV000230256 RCV002053949 RCV003995264

NM_000548.5(TSC2):c.2153G>A (p.Arg718His)

SNV
Germline

Chr16:2072296

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA016838

rs_45517215

6 SubmittersRCV000166299 RCV000469825 RCV001589035 RCV006547709

NM_000548.5(TSC2):c.2584G>A (p.Ala862Thr)

SNV
Germline

Chr16:2075837

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis 2
TSC2-related disorder
not specified
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA017691

rs_759837836

12 SubmittersRCV000164859 RCV000407000 RCV001086946 RCV004734759 RCV005434662 RCV006547704

NM_000548.5(TSC2):c.3535G>A (p.Glu1179Lys)

SNV
Germline

Chr16:2080302

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA019256

rs_45483391

6 SubmittersRCV000163457 RCV000430228 RCV001083093 RCV003995258

NM_000548.5(TSC2):c.3777C>T (p.Ser1259=)

SNV
Germline

Chr16:2081761

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA019542

rs_786202178

7 SubmittersRCV000164873 RCV000316816 RCV001047638 RCV001668323

NM_000548.5(TSC2):c.4527C>A (p.Phe1509Leu)

SNV
Germline

Chr16:2084984

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA020614

rs_775919951

4 SubmittersRCV000167342 RCV001230620 RCV001753574

NM_000548.5(TSC2):c.5265C>T (p.Cys1755=)

SNV
Germline

Chr16:2088451

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided
TSC2-related disorder
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA022344

rs_141449031

8 SubmittersRCV000163649 RCV000473465 RCV001555340 RCV004535079 RCV006547698

NM_000548.5(TSC2):c.*5G>A

SNV
Germline

Chr16:2088615

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis 2
TSC2-related disorder

Criteria Provided
Conflicting Classifications

CA022652

rs_201342697

5 SubmittersRCV000163706 RCV001547283 RCV001797646 RCV004535080

NM_001042492.3(NF1):c.3686A>G (p.Asn1229Ser)

SNV
Germline

Chr17:31233191

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Neurofibromatosis, type 1
not specified
NF1-related disorder
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA191008

rs_140523180

10 SubmittersRCV000164457 RCV000473108 RCV000614422 RCV004552890 RCV004998319 RCV005625346

NM_000548.5(TSC2):c.855C>T (p.Tyr285=)

SNV
Germline

Chr16:2058753

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA023053

rs_794726983

5 SubmittersRCV000173708 RCV000644400 RCV002408753

NM_000548.5(TSC2):c.1258-10C>G

SNV
Germline

Chr16:2062487

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA014237

rs_794727093

4 SubmittersRCV000174493 RCV000724618 RCV001082397

NM_000368.5(TSC1):c.2654G>A (p.Arg885Gln)

SNV
Germline

Chr9:132897582

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA006799

rs_200514807

6 SubmittersRCV000176157 RCV000571983 RCV001088675 RCV003995681

NM_000368.5(TSC1):c.3278G>A (p.Arg1093Gln)

SNV
Germline

Chr9:132896452

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
TSC1-related disorder
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA007291

rs_550526986

8 SubmittersRCV000642039 RCV000724617 RCV003298222 RCV003995684 RCV004745256 RCV003474931

NM_000368.5(TSC1):c.3347G>A (p.Ser1116Asn)

SNV
Germline

Chr9:132896383

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 1

Criteria Provided
Conflicting Classifications

CA007333

rs_764140399

2 SubmittersRCV000176367 RCV001852173

NM_000548.5(TSC2):c.4077C>T (p.Ile1359=)

SNV
Germline

Chr16:2084299

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome
TSC2-related disorder

Criteria Provided
Conflicting Classifications

CA019905

rs_150999168

10 SubmittersRCV000189925 RCV000724257 RCV001021817 RCV001082491 RCV003996568 RCV004537450

NM_000548.5(TSC2):c.4746C>T (p.Ile1582=)

SNV
Germline

Chr16:2086276

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA020975

rs_751305758

7 SubmittersRCV000177897 RCV000223618 RCV000724475 RCV001081235 RCV006547723

NM_000548.5(TSC2):c.4919A>C (p.His1640Pro)

SNV
Germline

Chr16:2086801

Likely pathogenic

Condition: not provided
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA021276

rs_794727602

2 SubmittersRCV000594599 RCV001852204

NM_000548.5(TSC2):c.573C>G (p.Leu191=)

SNV
Germline

Chr16:2055493

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA022569

rs_397515059

6 SubmittersRCV000179331 RCV001085605 RCV003298225 RCV003996580

NM_000548.5(TSC2):c.493C>T (p.Leu165=)

SNV
Germline

Chr16:2055413

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA021361

rs_758521946

9 SubmittersRCV000179332 RCV000563723 RCV001084292 RCV003996581

NM_000368.5(TSC1):c.3469A>G (p.Asn1157Asp)

SNV
Germline

Chr9:132896261

Conflicting classifications of pathogenicity

not specified
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA319266

rs_796053451

6 SubmittersRCV000189830 RCV000697883 RCV001020374 RCV003996853

NM_000368.5(TSC1):c.3289C>T (p.Arg1097Cys)

SNV
Germline

Chr9:132896441

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA036377

rs_779599439

7 SubmittersRCV000189863 RCV001019673 RCV001085451 RCV003996859

NM_000368.5(TSC1):c.3133C>T (p.Leu1045Phe)

SNV
Germline

Chr9:132896597

Conflicting classifications of pathogenicity

not specified
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
TSC1-related disorder

Criteria Provided
Conflicting Classifications

CA319263

rs_747162992

4 SubmittersRCV000189826 RCV001852519 RCV002321766 RCV003895230

NM_000368.5(TSC1):c.3130G>A (p.Glu1044Lys)

SNV
Germline

Chr9:132896600

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA319317

rs_796053462

8 SubmittersRCV000189860 RCV001079866 RCV002256098 RCV003996858

NM_000368.5(TSC1):c.3125G>T (p.Ser1042Ile)

SNV
Germline

Chr9:132896605

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
not specified
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA035967

rs_148931779

7 SubmittersRCV000189859 RCV001080753 RCV001018741 RCV001818461 RCV005401372

NM_000368.5(TSC1):c.3123C>G (p.Ser1041Arg)

SNV
Germline

Chr9:132896607

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Condition: not provided
Hereditary cancer-predisposing syndrome
TSC1-related disorder
Tuberous sclerosis syndrome
Epilepsy

Criteria Provided
Conflicting Classifications

CA035953

rs_753374839

11 SubmittersRCV000225953 RCV000341814 RCV001705062 RCV002257479 RCV003416119 RCV004804807 RCV005625416

NM_000368.5(TSC1):c.3086G>T (p.Ser1029Ile)

SNV
Germline

Chr9:132896644

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA319312

rs_796053450

6 SubmittersRCV000189858 RCV000557141 RCV004678635 RCV006547786

NM_000368.5(TSC1):c.3086G>A (p.Ser1029Asn)

SNV
Germline

Chr9:132896644

Conflicting classifications of pathogenicity

not specified
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA319258

rs_796053450

5 SubmittersRCV000189824 RCV000803859 RCV002321765 RCV006547783

NM_000368.5(TSC1):c.3080G>A (p.Arg1027Gln)

SNV
Germline

Chr9:132896650

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
TSC1-related disorder

Criteria Provided
Conflicting Classifications

CA319309

rs_796053461

8 SubmittersRCV000233178 RCV000561979 RCV001705063 RCV003996857 RCV004745259

NM_000368.5(TSC1):c.2995G>A (p.Gly999Arg)

SNV
Germline

Chr9:132896735

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis 1
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA035493

rs_780224196

7 SubmittersRCV000570020 RCV000727040 RCV001323564 RCV005402879

NM_000368.5(TSC1):c.2926A>G (p.Lys976Glu)

SNV
Germline

Chr9:132897233

Conflicting classifications of pathogenicity

not specified
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA319252

rs_796053448

7 SubmittersRCV000189822 RCV000819696 RCV001017516 RCV003488444 RCV006547782

NM_000368.5(TSC1):c.2375A>G (p.Gln792Arg)

SNV
Germline

Chr9:132902621

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 1
Ovarian cancer
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA319304

rs_796053460

5 SubmittersRCV000189855 RCV000558000 RCV003153464 RCV002453702

NM_000368.5(TSC1):c.2209-9C>G

SNV
Germline

Chr9:132902796

Conflicting classifications of pathogenicity

not specified
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA031961

rs_118203660

8 SubmittersRCV000189819 RCV000233096 RCV000266169 RCV001705061 RCV002256097 RCV005402877

NM_000368.5(TSC1):c.2115G>A (p.Glu705=)

SNV
Germline

Chr9:132903744

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
TSC1-related disorder
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA031535

rs_142662480

9 SubmittersRCV000189818 RCV000732642 RCV001081924 RCV002314772 RCV003947587 RCV004804806

NM_000368.5(TSC1):c.2026T>A (p.Trp676Arg)

SNV
Germline

Chr9:132904426

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA030669

rs_748901883

8 SubmittersRCV000189817 RCV001083108 RCV001014108 RCV003996852

NM_000368.5(TSC1):c.1943T>C (p.Val648Ala)

SNV
Germline

Chr9:132905635

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Lymphangiomyomatosis
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA030214

rs_771341361

6 SubmittersRCV000782213 RCV001013799 RCV001082729 RCV005042405 RCV006547781

NM_000368.5(TSC1):c.1775C>T (p.Thr592Met)

SNV
Germline

Chr9:132905803

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
not specified
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA029749

rs_775869914

8 SubmittersRCV000726144 RCV001013102 RCV001079404 RCV004703452 RCV006547780

NM_000368.5(TSC1):c.1721C>G (p.Thr574Ser)

SNV
Germline

Chr9:132905857

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Tuberous sclerosis 1
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA029589

rs_548002938

9 SubmittersRCV000189813 RCV000574453 RCV001082340 RCV005042404 RCV006547779

NM_000368.5(TSC1):c.1550G>A (p.Arg517Gln)

SNV
Germline

Chr9:132906028

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
TSC1-related disorder
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA029018

rs_371908551

6 SubmittersRCV000189848 RCV001012122 RCV001078761 RCV003401036 RCV006547785

NM_000368.5(TSC1):c.1332A>G (p.Ser444=)

SNV
Germline

Chr9:132907302

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
TSC1-related disorder
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA028083

rs_773003016

9 SubmittersRCV000189846 RCV000574822 RCV001087970 RCV003895232 RCV003996856

NM_000368.5(TSC1):c.1097C>T (p.Pro366Leu)

SNV
Germline

Chr9:132911046

Conflicting classifications of pathogenicity

not specified
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA027020

rs_763915012

5 SubmittersRCV000189810 RCV000225784 RCV001017276 RCV001355439

NM_000368.5(TSC1):c.1054G>A (p.Val352Ile)

SNV
Germline

Chr9:132911089

Conflicting classifications of pathogenicity

not specified
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Lymphangiomyomatosis
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA319235

rs_796053447

6 SubmittersRCV000189809 RCV000228527 RCV002399706 RCV003996851 RCV005042403

NM_000368.5(TSC1):c.1051A>G (p.Met351Val)

SNV
Germline

Chr9:132911092

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA319232

rs_781312535

7 SubmittersRCV000473657 RCV000575230 RCV001705059 RCV003996850

NM_000368.5(TSC1):c.946C>T (p.Arg316Trp)

SNV
Germline

Chr9:132911536

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
TSC1-related disorder
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA039888

rs_535868591

9 SubmittersRCV000189844 RCV001089004 RCV002257480 RCV003895231 RCV006547784

NM_000368.5(TSC1):c.898A>G (p.Thr300Ala)

SNV
Germline

Chr9:132912297

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA319286

rs_796053456

6 SubmittersRCV000189843 RCV000642034 RCV002372157 RCV003996855

NM_000368.5(TSC1):c.772G>A (p.Glu258Lys)

SNV
Germline

Chr9:132912423

Conflicting classifications of pathogenicity

Condition: not provided
Isolated focal cortical dysplasia type II
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA038893

rs_118203450

8 SubmittersRCV000189841 RCV000376049 RCV000641992 RCV002399707 RCV004804808

NM_000368.5(TSC1):c.89A>G (p.Lys30Arg)

SNV
Germline

Chr9:132928784

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
TSC1-related disorder
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA319269

rs_796053452

8 SubmittersRCV000189831 RCV000230335 RCV000575687 RCV003955133 RCV003996854

NM_000548.5(TSC2):c.-30+1G>C

SNV
Germline

Chr16:2048066

Conflicting classifications of pathogenicity

Condition: not provided
Lymphangiomyomatosis
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA319562

rs_587778004

6 SubmittersRCV000190049 RCV002500581 RCV003485553 RCV003468875 RCV005361100

NM_000548.5(TSC2):c.101A>C (p.Lys34Thr)

SNV
Germline

Chr16:2048716

Conflicting classifications of pathogenicity

not specified
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
TSC2-related disorder

Criteria Provided
Conflicting Classifications

CA027975

rs_777988634

8 SubmittersRCV000189880 RCV000475609 RCV001009700 RCV003996860 RCV004734839

NM_000548.5(TSC2):c.106A>G (p.Thr36Ala)

SNV
Germline

Chr16:2048721

Conflicting classifications of pathogenicity

not specified
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA028094

rs_757113497

6 SubmittersRCV000189881 RCV000467572 RCV002314773 RCV006259150

NM_000548.5(TSC2):c.152A>C (p.Glu51Ala)

SNV
Germline

Chr16:2050413

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA030988

rs_772617064

8 SubmittersRCV000468262 RCV000575026 RCV001705072 RCV003996890

NM_000548.5(TSC2):c.213G>T (p.Lys71Asn)

SNV
Germline

Chr16:2050474

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
not specified
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA036834

rs_766200310

7 SubmittersRCV000190013 RCV001079014 RCV002426919 RCV003150973 RCV006547799

NM_000548.5(TSC2):c.226C>T (p.His76Tyr)

SNV
Germline

Chr16:2053342

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA038111

rs_574779350

11 SubmittersRCV000367424 RCV000470663 RCV000565361 RCV001721240 RCV004703455

NM_000548.5(TSC2):c.325G>A (p.Val109Met)

SNV
Germline

Chr16:2053441

Conflicting classifications of pathogenicity

not specified
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA045030

rs_369932305

6 SubmittersRCV000189956 RCV000233520 RCV002321769 RCV003996875

NM_000548.5(TSC2):c.339C>T (p.Gly113=)

SNV
Germline

Chr16:2054298

Conflicting classifications of pathogenicity

not specified
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA046718

rs_368451664

6 SubmittersRCV000189957 RCV000644068 RCV002256100

NM_000548.5(TSC2):c.362C>G (p.Ala121Gly)

SNV
Germline

Chr16:2054321

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA047888

rs_767755750

8 SubmittersRCV000546990 RCV000575342 RCV002469054 RCV003477648 RCV003996898

NM_000548.5(TSC2):c.431A>G (p.Lys144Arg)

SNV
Germline

Chr16:2054390

Conflicting classifications of pathogenicity

not specified
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA050850

rs_769286175

6 SubmittersRCV000189958 RCV000229518 RCV002327021 RCV003996876 RCV006259153

NM_000548.5(TSC2):c.577G>A (p.Glu193Lys)

SNV
Germline

Chr16:2055497

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA055433

rs_45517112

5 SubmittersRCV000189961 RCV000219746 RCV000698793 RCV003996877

NM_000548.5(TSC2):c.583A>G (p.Ile195Val)

SNV
Germline

Chr16:2055503

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
TSC2-related disorder
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA055442

rs_148325559

11 SubmittersRCV000189962 RCV000205768 RCV000573793 RCV002500580 RCV004537593 RCV005401373

NM_000548.5(TSC2):c.710C>T (p.Pro237Leu)

SNV
Germline

Chr16:2056705

Conflicting classifications of pathogenicity

not specified
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
TSC2-related disorder
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA056182

rs_139060277

9 SubmittersRCV000190052 RCV000227699 RCV001026051 RCV004537600 RCV005401375

NM_000548.5(TSC2):c.718A>G (p.Ile240Val)

SNV
Germline

Chr16:2056713

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA319418

rs_796053482

5 SubmittersRCV000801305 RCV002372160 RCV003996879 RCV004567390 RCV005016537

NM_000548.5(TSC2):c.782G>A (p.Arg261Gln)

SNV
Germline

Chr16:2057112

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA319570

rs_45502703

8 SubmittersRCV000190055 RCV000572337 RCV001084043 RCV003996899 RCV005016545

NM_000548.5(TSC2):c.1004C>T (p.Ser335Phe)

SNV
Germline

Chr16:2060698

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA027958

rs_45517144

6 SubmittersRCV000694942 RCV001009666

NM_000548.5(TSC2):c.1081C>G (p.Leu361Val)

SNV
Germline

Chr16:2060775

Conflicting classifications of pathogenicity

Condition: not provided
Autism spectrum disorder
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA319427

rs_796053483

10 SubmittersRCV000189974 RCV000754678 RCV000812345 RCV002257481 RCV003462292 RCV003996880 RCV005016538

NM_000548.5(TSC2):c.1096G>A (p.Glu366Lys)

SNV
Germline

Chr16:2060790

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Condition: not provided
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA028150

rs_45517148

10 SubmittersRCV000230966 RCV000568549 RCV001118951 RCV001721235 RCV005016539

NM_000548.5(TSC2):c.1258G>T (p.Glu420Ter)

SNV
Germline

Chr16:2062497

Pathogenic

Condition: not provided
Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA319432

rs_796053484

5 SubmittersRCV000189977 RCV001051912 RCV003996881

NM_000548.5(TSC2):c.1307C>T (p.Pro436Leu)

SNV
Germline

Chr16:2062546

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA319435

rs_796053485

6 SubmittersRCV000189978 RCV000572652 RCV001085727 RCV003468874 RCV006547795

NM_000548.5(TSC2):c.1365C>T (p.Ser455=)

SNV
Germline

Chr16:2062975

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
TSC2-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA029711

rs_34567401

10 SubmittersRCV000227320 RCV001011055 RCV001721230 RCV003996862 RCV004539757 RCV004703453

NM_000548.5(TSC2):c.1381G>A (p.Val461Met)

SNV
Germline

Chr16:2062991

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA319441

rs_796053486

5 SubmittersRCV000189980 RCV000549657 RCV003380512 RCV003996883

NM_000548.5(TSC2):c.1534C>G (p.Leu512Val)

SNV
Germline

Chr16:2064362

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA031024

rs_772834557

6 SubmittersRCV000189982 RCV001083877 RCV001012067 RCV005401374

NM_000548.5(TSC2):c.1577G>C (p.Ser526Thr)

SNV
Germline

Chr16:2064405

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA031106

rs_376573446

12 SubmittersRCV000189889 RCV000564968 RCV000557687 RCV000768351 RCV001200210 RCV006547788

NM_000548.5(TSC2):c.1594G>A (p.Glu532Lys)

SNV
Germline

Chr16:2064422

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA319449

rs_149222396

7 SubmittersRCV000189983 RCV000802377 RCV001012313 RCV003996884 RCV005016540

NM_000548.5(TSC2):c.1599+19G>A

SNV
Germline

Chr16:2064446

Conflicting classifications of pathogenicity

not specified
Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA031258

rs_777632769

3 SubmittersRCV000189890 RCV001852521 RCV005016534

NM_000548.5(TSC2):c.1600-14C>A

SNV
Germline

Chr16:2065505

Conflicting classifications of pathogenicity

not specified
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Sarcoma

Criteria Provided
Conflicting Classifications

CA319352

rs_45517185

6 SubmittersRCV000189891 RCV002054240 RCV003996863 RCV005892207

NM_000548.5(TSC2):c.1610G>A (p.Arg537His)

SNV
Germline

Chr16:2065529

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA031730

rs_372681603

6 SubmittersRCV000189985 RCV001012413 RCV001088401 RCV005016541 RCV006547796

NM_000548.5(TSC2):c.1661C>T (p.Ser554Leu)

SNV
Germline

Chr16:2065580

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA032083

rs_45471596

8 SubmittersRCV000189986 RCV001083566 RCV002256101 RCV003996885

NM_000548.5(TSC2):c.1751C>T (p.Thr584Met)

SNV
Germline

Chr16:2070490

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA033300

rs_751147419

7 SubmittersRCV000644256 RCV001012959 RCV001705065 RCV003996865

NM_000548.5(TSC2):c.1796A>G (p.Lys599Arg)

SNV
Germline

Chr16:2070535

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA033543

rs_45517202

5 SubmittersRCV000189988 RCV001236049 RCV004948202

NM_000548.5(TSC2):c.1915C>T (p.Arg639Trp)

SNV
Germline

Chr16:2071585

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided
not specified
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA034455

rs_766451267

12 SubmittersRCV000570781 RCV000557012 RCV001705070 RCV003155114 RCV003996886

NM_000548.5(TSC2):c.1916G>A (p.Arg639Gln)

SNV
Germline

Chr16:2071586

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
TSC2-related disorder

Criteria Provided
Conflicting Classifications

CA034463

rs_753932484

7 SubmittersRCV000535602 RCV000509149 RCV000566813 RCV001705071 RCV004734842

NM_000548.5(TSC2):c.2072G>T (p.Arg691Leu)

SNV
Germline

Chr16:2071909

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA036218

rs_370553131

6 SubmittersRCV000189994 RCV001014296 RCV001083287 RCV003996887

NM_000548.5(TSC2):c.2237C>T (p.Thr746Ile)

SNV
Germline

Chr16:2072865

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA037685

rs_767770242

7 SubmittersRCV000189995 RCV000563688 RCV001086435 RCV004804810

NM_000548.5(TSC2):c.2246G>A (p.Arg749Gln)

SNV
Germline

Chr16:2072874

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA037732

rs_766442736

7 SubmittersRCV000189996 RCV000563830 RCV001087821 RCV001117540

NM_000548.5(TSC2):c.2287C>T (p.His763Tyr)

SNV
Germline

Chr16:2072915

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA038145

rs_758234726

5 SubmittersRCV000814544 RCV002444770 RCV003153465 RCV004567388

NM_000548.5(TSC2):c.2356-15T>A

SNV
Germline

Chr16:2074185

Conflicting classifications of pathogenicity

not specified
Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA038667

rs_189674303

8 SubmittersRCV000189906 RCV001117542 RCV001797671 RCV003114344

NM_000548.5(TSC2):c.2356-5T>G

SNV
Germline

Chr16:2074195

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA319473

rs_796053488

5 SubmittersRCV000189998 RCV000823285 RCV002444771 RCV003996888

NM_000548.5(TSC2):c.2357G>A (p.Arg786His)

SNV
Germline

Chr16:2074201

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA319589

rs_796053511

5 SubmittersRCV000190071 RCV000700685 RCV002444772 RCV006547807

NM_000548.5(TSC2):c.2416G>A (p.Val806Met)

SNV
Germline

Chr16:2074260

Conflicting classifications of pathogenicity

not specified
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Isolated focal cortical dysplasia type II
TSC2-related disorder

Criteria Provided
Conflicting Classifications

CA319361

rs_796053473

7 SubmittersRCV000189907 RCV000525436 RCV001015274 RCV003996866 RCV003462291 RCV004734841

NM_000548.5(TSC2):c.2539C>T (p.Leu847=)

SNV
Germline

Chr16:2074383

Conflicting classifications of pathogenicity

not specified
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Condition: not provided
TSC2-related disorder

Criteria Provided
Conflicting Classifications

CA039428

rs_377300009

12 SubmittersRCV000189908 RCV000229912 RCV000565055 RCV001119146 RCV003390918 RCV004537589

NM_000548.5(TSC2):c.2639+1G>A

SNV
Germline

Chr16:2075893

Pathogenic

Condition: not provided
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA319483

rs_45517252

6 SubmittersRCV000190003 RCV001797674

NM_000548.5(TSC2):c.2678T>C (p.Ile893Thr)

SNV
Germline

Chr16:2076106

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA319484

rs_796053491

5 SubmittersRCV000190005 RCV000644168 RCV002426918 RCV006547797

NM_000548.5(TSC2):c.2701C>T (p.Arg901Cys)

SNV
Germline

Chr16:2076129

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA319592

rs_796053512

6 SubmittersRCV000231440 RCV001016356 RCV003884383

NM_000548.5(TSC2):c.2712C>G (p.Phe904Leu)

SNV
Germline

Chr16:2076140

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
TSC2-related disorder
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA041007

rs_137920189

10 SubmittersRCV000203097 RCV000567626 RCV001705067 RCV004537590 RCV006547790

NM_000548.5(TSC2):c.2756A>G (p.Asn919Ser)

SNV
Germline

Chr16:2076504

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA041783

rs_780057014

7 SubmittersRCV000190007 RCV001016513 RCV001086210 RCV003996889 RCV005016542

NM_000548.5(TSC2):c.2968A>G (p.Arg990Gly)

SNV
Germline

Chr16:2079033

Conflicting classifications of pathogenicity

not specified
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA043555

rs_753730009

4 SubmittersRCV000189913 RCV000807950 RCV001017697

NM_000548.5(TSC2):c.2971A>G (p.Ile991Val)

SNV
Germline

Chr16:2079036

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA319491

rs_369524855

4 SubmittersRCV001044377 RCV002433859 RCV003462293 RCV006547798

NM_000548.5(TSC2):c.2986A>G (p.Thr996Ala)

SNV
Germline

Chr16:2079051

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA043628

rs_139753238

9 SubmittersRCV000231299 RCV000561234 RCV001705073 RCV003996891

NM_000548.5(TSC2):c.3145G>A (p.Glu1049Lys)

SNV
Germline

Chr16:2079289

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome
TSC2-related disorder
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA319501

rs_796053492

14 SubmittersRCV000190014 RCV000562972 RCV000766975 RCV001085820 RCV003462294 RCV003996892 RCV004528972 RCV005016543

NM_000548.5(TSC2):c.3180G>A (p.Trp1060Ter)

SNV
Germline

Chr16:2079324

Pathogenic

Condition: not provided
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA319583

rs_796053509

4 SubmittersRCV000190069 RCV000801616

NM_000548.5(TSC2):c.3226G>A (p.Gly1076Arg)

SNV
Germline

Chr16:2079370

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA044834

rs_747910305

5 SubmittersRCV000531095 RCV000765271 RCV002321770 RCV005411365

NM_000548.5(TSC2):c.3271G>A (p.Gly1091Ser)

SNV
Germline

Chr16:2079415

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
TSC2-related disorder
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA319506

rs_796053493

6 SubmittersRCV000190017 RCV001085830 RCV001019560 RCV004537596 RCV006547800

NM_000548.5(TSC2):c.3326C>T (p.Pro1109Leu)

SNV
Germline

Chr16:2079598

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided
Lymphangiomyomatosis
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA319368

rs_796053474

6 SubmittersRCV000189915 RCV000490959 RCV000546326 RCV004998399 RCV005016535

NM_000548.5(TSC2):c.3374G>A (p.Arg1125Gln)

SNV
Germline

Chr16:2079646

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA319371

rs_796053475

5 SubmittersRCV000542085 RCV001020126 RCV001705069

NM_000548.5(TSC2):c.3425T>C (p.Leu1142Pro)

SNV
Germline

Chr16:2080192

Conflicting classifications of pathogenicity

not specified
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA319595

rs_796053513

4 SubmittersRCV000190077 RCV000644198 RCV002453704

NM_000548.5(TSC2):c.3428A>T (p.Asp1143Val)

SNV
Germline

Chr16:2080195

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA319512

rs_796053495

5 SubmittersRCV000468447 RCV001020274 RCV001721236 RCV006547801

NM_000548.5(TSC2):c.3532C>G (p.Gln1178Glu)

SNV
Germline

Chr16:2080299

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA319515

rs_45517297

4 SubmittersRCV000190020 RCV000551233 RCV001020544

NM_000548.5(TSC2):c.3565C>G (p.Leu1189Val)

SNV
Germline

Chr16:2080332

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA319374

rs_796053476

5 SubmittersRCV000469044 RCV001020619 RCV001721231 RCV006547791

NM_000548.5(TSC2):c.3624G>A (p.Trp1208Ter)

SNV
Germline

Chr16:2081608

Pathogenic

Condition: not provided
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA319518

rs_796053496

2 SubmittersRCV000190022 RCV002517023

NM_000548.5(TSC2):c.3939G>T (p.Glu1313Asp)

SNV
Germline

Chr16:2083750

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA049654

rs_149340262

6 SubmittersRCV000535896 RCV001021475 RCV001705074 RCV003996893

NM_000548.5(TSC2):c.4029G>C (p.Glu1343Asp)

SNV
Germline

Chr16:2084251

Conflicting classifications of pathogenicity

not specified
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA050218

rs_752502287

6 SubmittersRCV000189924 RCV001053943 RCV002372158 RCV006439755

NM_000548.5(TSC2):c.4030G>A (p.Glu1344Lys)

SNV
Germline

Chr16:2084252

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA050233

rs_397515035

10 SubmittersRCV000713931 RCV001087396 RCV002257482 RCV003996894

NM_000548.5(TSC2):c.4067G>A (p.Gly1356Asp)

SNV
Germline

Chr16:2084289

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA050325

rs_747104864

7 SubmittersRCV000644243 RCV001021792 RCV004700576 RCV003996895

NM_000548.5(TSC2):c.4094C>T (p.Ser1365Leu)

SNV
Germline

Chr16:2084316

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
not specified
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA050423

rs_377123510

10 SubmittersRCV000471216 RCV000567838 RCV001082119 RCV003479052 RCV006547792

NM_000548.5(TSC2):c.4198G>A (p.Asp1400Asn)

SNV
Germline

Chr16:2084420

Conflicting classifications of pathogenicity

not specified
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA319383

rs_762368225

3 SubmittersRCV000189928 RCV001852522 RCV003298247

NM_000548.5(TSC2):c.4223G>T (p.Gly1408Val)

SNV
Germline

Chr16:2084445

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis 2
Tuberous sclerosis syndrome
not specified

Criteria Provided
Conflicting Classifications

CA050682

rs_202068995

12 SubmittersRCV000491452 RCV000713933 RCV001087398 RCV003996896 RCV005434690

NM_000548.5(TSC2):c.4226G>A (p.Arg1409Gln)

SNV
Germline

Chr16:2084448

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA050701

rs_768684515

7 SubmittersRCV000915945 RCV001022088 RCV001721232 RCV003996869

NM_000548.5(TSC2):c.4312C>T (p.Arg1438Trp)

SNV
Germline

Chr16:2084534

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA050835

rs_778925833

6 SubmittersRCV000190079 RCV000695662 RCV001022271 RCV003462296 RCV003996900

NM_000548.5(TSC2):c.4385C>G (p.Thr1462Ser)

SNV
Germline

Chr16:2084607

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA051006

rs_373018205

5 SubmittersRCV000934634 RCV001022397 RCV001427433 RCV004804809

NM_000548.5(TSC2):c.4426G>A (p.Glu1476Lys)

SNV
Germline

Chr16:2084648

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA051101

rs_376946970

7 SubmittersRCV000189932 RCV000218843 RCV000458406 RCV003996870 RCV004808617

NM_000548.5(TSC2):c.4447A>G (p.Arg1483Gly)

SNV
Germline

Chr16:2084669

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
TSC2-related disorder
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA051170

rs_199644840

7 SubmittersRCV000527710 RCV001022496 RCV001721238 RCV004537598 RCV006547803

NM_000548.5(TSC2):c.4577C>A (p.Ser1526Tyr)

SNV
Germline

Chr16:2085237

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA319534

rs_796053498

5 SubmittersRCV000475369 RCV000574084 RCV006547804

NM_000548.5(TSC2):c.4729G>A (p.Gly1577Ser)

SNV
Germline

Chr16:2086259

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA319537

rs_796053499

5 SubmittersRCV000190037 RCV001307603 RCV004020298 RCV004567392

NM_000548.5(TSC2):c.4850-3C>T

SNV
Germline

Chr16:2086729

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA319392

rs_397514982

3 SubmittersRCV002646640 RCV004066701 RCV006546057

NM_000548.5(TSC2):c.4900C>T (p.Arg1634Cys)

SNV
Germline

Chr16:2086782

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
not specified

Criteria Provided
Conflicting Classifications

CA053034

rs_760457821

10 SubmittersRCV000725350 RCV001314556 RCV002336506 RCV004804811 RCV005008120 RCV005418006

NM_000548.5(TSC2):c.4998C>A (p.Phe1666Leu)

SNV
Germline

Chr16:2087871

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA053452

rs_757221445

8 SubmittersRCV000189938 RCV000575063 RCV001088052 RCV003996871 RCV005016536

NM_000548.5(TSC2):c.5039G>A (p.Cys1680Tyr)

SNV
Germline

Chr16:2087912

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA053573

rs_150558493

6 SubmittersRCV000190039 RCV001084596 RCV002336507 RCV005008121 RCV006554490

NM_000548.5(TSC2):c.5095G>A (p.Val1699Met)

SNV
Germline

Chr16:2088074

Conflicting classifications of pathogenicity

not specified
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
TSC2-related disorder

Criteria Provided
Conflicting Classifications

CA053941

rs_370864445

8 SubmittersRCV000189942 RCV000473026 RCV000570790 RCV003996872 RCV004537592

NM_000548.5(TSC2):c.5120A>G (p.Asn1707Ser)

SNV
Germline

Chr16:2088099

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
TSC2-related disorder

Criteria Provided
Conflicting Classifications

CA054000

rs_772439098

7 SubmittersRCV000462184 RCV001721233 RCV002336505 RCV003996873 RCV004539758

NM_000548.5(TSC2):c.5142G>A (p.Gln1714=)

SNV
Germline

Chr16:2088121

Conflicting classifications of pathogenicity

not specified
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Condition: not provided
TSC2-related disorder

Criteria Provided
Conflicting Classifications

CA054054

rs_147147042

15 SubmittersRCV000189947 RCV000232905 RCV000572198 RCV001117884 RCV003237758 RCV004539759

NM_000548.5(TSC2):c.5186G>A (p.Arg1729His)

SNV
Germline

Chr16:2088252

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
TSC2-related disorder
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA054348

rs_760395277

8 SubmittersRCV000230273 RCV001023681 RCV001721239 RCV004539760 RCV006547808

NM_000548.5(TSC2):c.5252G>A (p.Arg1751His)

SNV
Germline

Chr16:2088318

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Ovarian cancer
TSC2-related disorder
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA054581

rs_373365980

10 SubmittersRCV000190042 RCV001084515 RCV002257483 RCV003153466 RCV004537599 RCV006547805

NM_000548.5(TSC2):c.5261T>G (p.Ile1754Ser)

SNV
Germline

Chr16:2088447

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA054821

rs_762320484

6 SubmittersRCV000190043 RCV000468026 RCV001023818 RCV004804812

NM_000548.5(TSC2):c.5266G>A (p.Glu1756Lys)

SNV
Germline

Chr16:2088452

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis 2
Tuberous sclerosis syndrome
TSC2-related disorder
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA054884

rs_375075952

11 SubmittersRCV000561869 RCV000713943 RCV001083713 RCV003996897 RCV004734843 RCV005016544

NM_000548.5(TSC2):c.5347G>A (p.Glu1783Lys)

SNV
Germline

Chr16:2088533

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA055186

rs_777166275

6 SubmittersRCV000190045 RCV001084324 RCV002345684 RCV006554491

NM_000548.5(TSC2):c.5389A>C (p.Ile1797Leu)

SNV
Germline

Chr16:2088575

Conflicting classifications of pathogenicity

not specified
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA319402

rs_796053479

6 SubmittersRCV000189951 RCV000696799 RCV002345683 RCV004567389 RCV006554489

NM_000368.5(TSC1):c.1794C>T (p.Ser598=)

SNV
Germline

Chr9:132905784

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 1
not specified
Hereditary cancer-predisposing syndrome
TSC1-related disorder
Tuberous sclerosis syndrome
Lymphangiomyomatosis
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA348664

rs_766438395

11 SubmittersRCV000828746 RCV001087929 RCV001002398 RCV001013195 RCV003897453 RCV003997652 RCV005042448

NM_000548.5(TSC2):c.2838-6C>T

SNV
Germline

Chr16:2077592

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA042365

rs_528706539

5 SubmittersRCV000205443 RCV000372271

NM_000548.5(TSC2):c.4617A>G (p.Ser1539=)

SNV
Germline

Chr16:2085277

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA051956

rs_201038907

7 SubmittersRCV000205870 RCV001022787 RCV003997655

NM_000548.5(TSC2):c.2074G>A (p.Val692Ile)

SNV
Germline

Chr16:2071911

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA036245

rs_201769220

9 SubmittersRCV000211466 RCV000542869 RCV001580472 RCV002415885

NM_000548.5(TSC2):c.3002G>A (p.Gly1001Glu)

SNV
Germline

Chr16:2079067

Conflicting classifications of pathogenicity

not specified
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Ovarian cancer
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA043736

rs_368878445

7 SubmittersRCV000218870 RCV000477004 RCV000574771 RCV003153493 RCV006547835

NM_000368.5(TSC1):c.3296A>G (p.Lys1099Arg)

SNV
Germline

Chr9:132896434

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA10578822

rs_876660132

6 SubmittersRCV000213461 RCV000799771 RCV001562491 RCV004804915

NM_000368.5(TSC1):c.1058G>A (p.Cys353Tyr)

SNV
Germline

Chr9:132911085

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA10578830

rs_876660024

5 SubmittersRCV000217823 RCV000817344 RCV003998005

NM_000368.5(TSC1):c.932C>G (p.Pro311Arg)

SNV
Germline

Chr9:132911550

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
TSC1-related disorder
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA039782

rs_776158460

7 SubmittersRCV000221166 RCV000966584 RCV003417788 RCV003997921

NM_000368.5(TSC1):c.287T>C (p.Val96Ala)

SNV
Germline

Chr9:132925663

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1

Criteria Provided
Conflicting Classifications

CA034878

rs_370243092

3 SubmittersRCV000220036 RCV001041403

NM_000548.5(TSC2):c.17G>A (p.Ser6Asn)

SNV
Germline

Chr16:2048632

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA033570

rs_758239066

6 SubmittersRCV000213113 RCV000537615 RCV006547836

NM_000548.5(TSC2):c.849-4T>C

SNV
Germline

Chr16:2058743

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
TSC2-related disorder
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA056565

rs_752614339

7 SubmittersRCV000221547 RCV000644217 RCV004532807 RCV003998594

NM_000548.5(TSC2):c.1367A>G (p.Glu456Gly)

SNV
Germline

Chr16:2062977

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA10579874

rs_876659386

4 SubmittersRCV000213492 RCV000473388 RCV004804888

NM_000548.5(TSC2):c.2038C>T (p.Arg680Trp)

SNV
Germline

Chr16:2071875

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA10579879

rs_876658578

6 SubmittersRCV000218035 RCV000644083 RCV003225044 RCV003997840

NM_000548.5(TSC2):c.2050G>A (p.Val684Met)

SNV
Germline

Chr16:2071887

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Dilated cardiomyopathy 1D

Criteria Provided
Conflicting Classifications

CA036058

rs_779275341

6 SubmittersRCV000214376 RCV000482513 RCV001337723 RCV003997895 RCV005863056

NM_000548.5(TSC2):c.2098-5C>G

SNV
Germline

Chr16:2072236

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA036619

rs_369072310

7 SubmittersRCV000213658 RCV000828151 RCV001089356 RCV003998018

NM_000548.5(TSC2):c.2098-3C>T

SNV
Germline

Chr16:2072238

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA10579880

rs_876660489

2 SubmittersRCV000218505 RCV001854696

NM_000548.5(TSC2):c.2180C>T (p.Pro727Leu)

SNV
Germline

Chr16:2072323

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA036994

rs_767086409

3 SubmittersRCV000223317 RCV001216217

NM_000548.5(TSC2):c.2365G>A (p.Val789Ile)

SNV
Germline

Chr16:2074209

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA038777

rs_779472379

9 SubmittersRCV000215219 RCV000458155 RCV001119143 RCV003153501

NM_000548.5(TSC2):c.3281C>G (p.Ser1094Trp)

SNV
Germline

Chr16:2079425

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided
Tuberous sclerosis syndrome
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis

Criteria Provided
Conflicting Classifications

CA045126

rs_397514887

6 SubmittersRCV000221766 RCV001341323 RCV002251447 RCV006547846 RCV005016606

NM_000548.5(TSC2):c.3981C>G (p.Asp1327Glu)

SNV
Germline

Chr16:2083792

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA10579897

rs_876659087

4 SubmittersRCV000216974 RCV000644390 RCV006547841

NM_000548.5(TSC2):c.4097A>C (p.Glu1366Ala)

SNV
Germline

Chr16:2084319

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA050437

rs_755461310

6 SubmittersRCV000219391 RCV000296255 RCV000473048

NM_000548.5(TSC2):c.4137G>A (p.Ser1379=)

SNV
Germline

Chr16:2084359

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA050539

rs_769653533

8 SubmittersRCV000216161 RCV000423949 RCV000551307 RCV001117775

NM_000548.5(TSC2):c.5258G>A (p.Arg1753Gln)

SNV
Germline

Chr16:2088324

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA054609

rs_749487441

4 SubmittersRCV000221971 RCV000799356 RCV003998556

NM_000368.5(TSC1):c.3426C>T (p.Pro1142=)

SNV
Germline

Chr9:132896304

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA036933

rs_758286878

5 SubmittersRCV000231359 RCV002256133 RCV006259313

NM_000368.5(TSC1):c.3416A>C (p.His1139Pro)

SNV
Germline

Chr9:132896314

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA10582619

rs_764018144

6 SubmittersRCV000228446 RCV001020245 RCV003998779

NM_000368.5(TSC1):c.3125G>A (p.Ser1042Asn)

SNV
Germline

Chr9:132896605

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Condition: not provided
Hereditary cancer-predisposing syndrome
TSC1-related disorder
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA10582622

rs_148931779

6 SubmittersRCV000229859 RCV001589171 RCV002321855 RCV003390983 RCV006547858

NM_000368.5(TSC1):c.3005A>T (p.Asp1002Val)

SNV
Germline

Chr9:132896725

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA035584

rs_202121327

8 SubmittersRCV000229256 RCV000563268 RCV001169542 RCV001568881 RCV003998777

NM_000368.5(TSC1):c.2968G>A (p.Glu990Lys)

SNV
Germline

Chr9:132897191

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA035148

rs_200398750

8 SubmittersRCV000226388 RCV000573300 RCV001169544 RCV001536549 RCV003998776

NM_000368.5(TSC1):c.2423C>T (p.Ala808Val)

SNV
Germline

Chr9:132901668

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis 1
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
TSC1-related disorder
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA032629

rs_756514375

9 SubmittersRCV000233834 RCV001015473 RCV001545419 RCV002500758 RCV003947749 RCV006547857

NM_000368.5(TSC1):c.2195A>G (p.His732Arg)

SNV
Germline

Chr9:132903664

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA10582624

rs_878853964

5 SubmittersRCV000229210 RCV001014736 RCV004804948

NM_000368.5(TSC1):c.1998-1G>T

SNV
Germline

Chr9:132904455

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10582626

rs_118203614

2 SubmittersRCV000228255 RCV005502770

NM_000368.5(TSC1):c.1276G>T (p.Asp426Tyr)

SNV
Germline

Chr9:132907358

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA027960

rs_765695557

10 SubmittersRCV000407254 RCV000726384 RCV001010703 RCV001081666 RCV006547853

NM_000368.5(TSC1):c.1257C>G (p.Pro419=)

SNV
Germline

Chr9:132910577

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
not specified
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Tuberous sclerosis 1
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA027496

rs_369642207

10 SubmittersRCV000233351 RCV000565586 RCV000606055 RCV002503890 RCV003430779 RCV003998770

NM_000368.5(TSC1):c.1256C>A (p.Pro419His)

SNV
Germline

Chr9:132910578

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA10582630

rs_878853959

7 SubmittersRCV000229298 RCV001010360 RCV001813773 RCV003469148 RCV003998769

NM_000368.5(TSC1):c.1105C>A (p.Leu369Met)

SNV
Germline

Chr9:132911038

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10582631

rs_118203496

3 SubmittersRCV000228703 RCV003165601 RCV004998511

NM_000368.5(TSC1):c.850C>T (p.Arg284Cys)

SNV
Germline

Chr9:132912345

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
TSC1-related disorder
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA039166

rs_140544652

8 SubmittersRCV000231351 RCV001017933 RCV001575957 RCV003407768 RCV006547864

NM_000368.5(TSC1):c.819T>G (p.Asp273Glu)

SNV
Germline

Chr9:132912376

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA039098

rs_148756522

7 SubmittersRCV000227461 RCV000270939 RCV000566627 RCV003998781 RCV006259314

NM_000368.5(TSC1):c.809C>T (p.Ser270Leu)

SNV
Germline

Chr9:132912386

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA10582634

rs_878853968

8 SubmittersRCV000230751 RCV001027171 RCV003237786 RCV003475059 RCV003998780

NM_000368.5(TSC1):c.479G>A (p.Arg160His)

SNV
Germline

Chr9:132923377

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Ovarian cancer
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA037559

rs_749979841

9 SubmittersRCV000361865 RCV001084683 RCV001023070 RCV003153524 RCV006547859

NM_000548.5(TSC2):c.148A>G (p.Met50Val)

SNV
Germline

Chr16:2050409

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Hypertrophic cardiomyopathy 7

Criteria Provided
Conflicting Classifications

CA030828

rs_140618379

10 SubmittersRCV000243799 RCV000726243 RCV001011846 RCV001086583 RCV003998803 RCV005863060

NM_000548.5(TSC2):c.566G>A (p.Cys189Tyr)

SNV
Germline

Chr16:2055486

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA055403

rs_764218079

4 SubmittersRCV000227485 RCV001024387 RCV006547886

NM_000548.5(TSC2):c.632C>T (p.Ser211Phe)

SNV
Germline

Chr16:2056228

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA10583283

rs_878854120

5 SubmittersRCV000230979 RCV001025142 RCV003469154 RCV003998842

NM_000548.5(TSC2):c.775-5C>T

SNV
Germline

Chr16:2057100

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome
TSC2-related disorder

Criteria Provided
Conflicting Classifications

CA10583285

rs_181827303

8 SubmittersRCV000232338 RCV001026786 RCV001086775 RCV001117342 RCV004532856

NM_000548.5(TSC2):c.833A>G (p.His278Arg)

SNV
Germline

Chr16:2057163

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA10583286

rs_397515266

7 SubmittersRCV000231955 RCV001534673 RCV002256137 RCV003998843

NM_000548.5(TSC2):c.861G>C (p.Glu287Asp)

SNV
Germline

Chr16:2058759

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
not specified
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
TSC2-related disorder
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA056597

rs_192567788

10 SubmittersRCV000231494 RCV000608375 RCV001018094 RCV002500763 RCV004532858 RCV006547888

NM_000548.5(TSC2):c.921C>G (p.His307Gln)

SNV
Germline

Chr16:2058819

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
not specified
TSC2-related disorder
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA10583287

rs_878854121

10 SubmittersRCV000226468 RCV001550647 RCV002372261 RCV003463661 RCV003317165 RCV004532859 RCV003998844

NM_000548.5(TSC2):c.929A>G (p.Tyr310Cys)

SNV
Germline

Chr16:2058827

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA10583288

rs_878854122

5 SubmittersRCV000229314 RCV002372262 RCV003237787 RCV003998845

NM_000548.5(TSC2):c.941A>G (p.Asn314Ser)

SNV
Germline

Chr16:2058839

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10583289

rs_878854123

3 SubmittersRCV000233295 RCV002257539

NM_000548.5(TSC2):c.947C>A (p.Pro316Gln)

SNV
Germline

Chr16:2058845

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA056703

rs_751490043

6 SubmittersRCV000226007 RCV001019379 RCV001770191 RCV003998846

NM_000548.5(TSC2):c.1213G>C (p.Glu405Gln)

SNV
Germline

Chr16:2061964

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA028805

rs_765622787

5 SubmittersRCV000226213 RCV000568157 RCV005016622

NM_000548.5(TSC2):c.1373G>A (p.Arg458Gln)

SNV
Germline

Chr16:2062983

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA10583294

rs_878854077

8 SubmittersRCV000231211 RCV000765262 RCV001011245 RCV001589172 RCV003998801

NM_000548.5(TSC2):c.1599+10G>A

SNV
Germline

Chr16:2064437

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
not specified
Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
TSC2-related disorder

Criteria Provided
Conflicting Classifications

CA031188

rs_376692777

9 SubmittersRCV000225781 RCV000435819 RCV001117451 RCV002257536 RCV004541373

NM_000548.5(TSC2):c.1600-10C>T

SNV
Germline

Chr16:2065509

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
not specified
Tuberous sclerosis syndrome
TSC2-related disorder
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA031489

rs_768188836

9 SubmittersRCV000228846 RCV000609241 RCV003998804 RCV004734880 RCV004017530

NM_000548.5(TSC2):c.1613C>T (p.Ser538Phe)

SNV
Germline

Chr16:2065532

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA10583296

rs_201334685

5 SubmittersRCV000226536 RCV002282073 RCV002399815 RCV003998805 RCV005016623

NM_000548.5(TSC2):c.1840G>C (p.Ala614Pro)

SNV
Germline

Chr16:2071510

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA10583299

rs_397515199

1 SubmittersRCV000227968

NM_000548.5(TSC2):c.1979G>A (p.Ser660Asn)

SNV
Germline

Chr16:2071816

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA035397

rs_754504918

5 SubmittersRCV000228024 RCV000732670 RCV002417999 RCV003998806

NM_000548.5(TSC2):c.2023G>A (p.Ala675Thr)

SNV
Germline

Chr16:2071860

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Ovarian cancer
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10583300

rs_764840082

3 SubmittersRCV000228760 RCV003153525 RCV003165605

NM_000548.5(TSC2):c.2035G>A (p.Val679Met)

SNV
Germline

Chr16:2071872

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
not specified
Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Condition: not provided
Tuberous sclerosis syndrome
TSC2-related disorder

Criteria Provided
Conflicting Classifications

CA035939

rs_746315218

10 SubmittersRCV000231534 RCV000571411 RCV000605322 RCV002478840 RCV003477796 RCV003998807 RCV004532842

NM_000548.5(TSC2):c.2047T>C (p.Ser683Pro)

SNV
Germline

Chr16:2071884

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10583302

rs_878854080

7 SubmittersRCV000232288 RCV001014180 RCV003998809 RCV003311720

NM_000548.5(TSC2):c.2098-5C>T

SNV
Germline

Chr16:2072236

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA036644

rs_369072310

6 SubmittersRCV000232656 RCV000564614 RCV000616624

NM_000548.5(TSC2):c.2167A>G (p.Ile723Val)

SNV
Germline

Chr16:2072310

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA10583305

rs_764725850

9 SubmittersRCV000564827 RCV000596298 RCV001084101 RCV003998811

NM_000548.5(TSC2):c.2167A>T (p.Ile723Phe)

SNV
Germline

Chr16:2072310

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10583306

rs_764725850

2 SubmittersRCV000227175 RCV002429100

NM_000548.5(TSC2):c.2273C>G (p.Ser758Cys)

SNV
Germline

Chr16:2072901

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA10583307

rs_45517223

7 SubmittersRCV000230681 RCV002261015 RCV002315685 RCV003998813

NM_000548.5(TSC2):c.2358C>T (p.Arg786=)

SNV
Germline

Chr16:2074202

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA038732

rs_372834284

10 SubmittersRCV000234151 RCV001015280 RCV001117543 RCV001697299

NM_000548.5(TSC2):c.2520C>T (p.Ala840=)

SNV
Germline

Chr16:2074364

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
TSC2-related disorder

Criteria Provided
Conflicting Classifications

CA039335

rs_147683438

8 SubmittersRCV000233311 RCV001015807 RCV001119145 RCV004532845

NM_000548.5(TSC2):c.2521G>A (p.Val841Ile)

SNV
Germline

Chr16:2074365

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
TSC2-related disorder

Criteria Provided
Conflicting Classifications

CA10583310

rs_549612492

9 SubmittersRCV000227059 RCV000277301 RCV002450674 RCV004532846

NM_000548.5(TSC2):c.2570A>G (p.Tyr857Cys)

SNV
Germline

Chr16:2075823

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10583311

rs_878854084

4 SubmittersRCV000230556 RCV001091442 RCV002429101

NM_000548.5(TSC2):c.2576A>C (p.Asn859Thr)

SNV
Germline

Chr16:2075829

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA10583312

rs_878854085

3 SubmittersRCV000234558 RCV002450675 RCV006547870

NM_000548.5(TSC2):c.2821A>G (p.Asn941Asp)

SNV
Germline

Chr16:2076569

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10583315

rs_878854087

5 SubmittersRCV000232107 RCV000413302 RCV002433957

NM_000548.5(TSC2):c.3028C>G (p.Gln1010Glu)

SNV
Germline

Chr16:2079093

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA044006

rs_45514100

7 SubmittersRCV000230846 RCV001018163 RCV001551091 RCV003998818

NM_000548.5(TSC2):c.3054C>T (p.Leu1018=)

SNV
Germline

Chr16:2079119

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA044097

rs_762570079

6 SubmittersRCV000230537 RCV001311414 RCV002444887 RCV004804949

NM_000548.5(TSC2):c.3102C>T (p.Val1034=)

SNV
Germline

Chr16:2079167

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA044239

rs_562998574

9 SubmittersRCV000232349 RCV001540412 RCV002321857 RCV003998820

NM_000548.5(TSC2):c.3192C>A (p.Asn1064Lys)

SNV
Germline

Chr16:2079336

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA044699

rs_201670791

9 SubmittersRCV000734482 RCV001083071 RCV002258838 RCV003998821

NM_000548.5(TSC2):c.3217G>A (p.Val1073Met)

SNV
Germline

Chr16:2079361

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA044793

rs_749192298

5 SubmittersRCV000226848 RCV001019293 RCV003480561

NM_000548.5(TSC2):c.3276G>A (p.Pro1092=)

SNV
Germline

Chr16:2079420

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Condition: not provided
TSC2-related disorder

Criteria Provided
Conflicting Classifications

CA045093

rs_368923127

8 SubmittersRCV000229216 RCV000561454 RCV001116223 RCV001550939 RCV004725103

NM_000548.5(TSC2):c.3347C>G (p.Ala1116Gly)

SNV
Germline

Chr16:2079619

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA10583319

rs_878854092

4 SubmittersRCV000226898 RCV002321858 RCV004760457 RCV006547873

NM_000548.5(TSC2):c.3611-2A>G

SNV
Germline

Chr16:2081593

Likely pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA10583321

rs_397515169

1 SubmittersRCV000225986

NM_000548.5(TSC2):c.3834G>C (p.Leu1278=)

SNV
Germline

Chr16:2082455

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA10583324

rs_766029525

3 SubmittersRCV001424184 RCV002354642 RCV006547875

NM_000548.5(TSC2):c.3919G>A (p.Glu1307Lys)

SNV
Germline

Chr16:2083730

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis 2
TSC2-related disorder

Criteria Provided
Conflicting Classifications

CA049623

rs_62642481

9 SubmittersRCV000325835 RCV000567501 RCV000726912 RCV001079391 RCV004532850

NM_000548.5(TSC2):c.4051G>A (p.Glu1351Lys)

SNV
Germline

Chr16:2084273

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA10583329

rs_878854101

3 SubmittersRCV000230897 RCV003165606 RCV003998826

NM_000548.5(TSC2):c.4070T>A (p.Ile1357Asn)

SNV
Germline

Chr16:2084292

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10583331

rs_878854103

2 SubmittersRCV000227467 RCV003165607

NM_000548.5(TSC2):c.4072C>G (p.Pro1358Ala)

SNV
Germline

Chr16:2084294

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Neurodevelopmental delay
Seizure
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Condition: not provided
Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA10583332

rs_878854104

8 SubmittersRCV000230305 RCV002243904 RCV002321860 RCV003463659 RCV004725104 RCV005016626

NM_000548.5(TSC2):c.4168G>A (p.Glu1390Lys)

SNV
Germline

Chr16:2084390

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA050575

rs_397515033

2 SubmittersRCV000234433 RCV002327110

NM_000548.5(TSC2):c.4346C>T (p.Ser1449Phe)

SNV
Germline

Chr16:2084568

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
not specified
Tuberous sclerosis syndrome
TSC2-related disorder

Criteria Provided
Conflicting Classifications

CA050898

rs_759004251

8 SubmittersRCV000232439 RCV000562405 RCV000502912 RCV003998827 RCV004532852

NM_000548.5(TSC2):c.4352G>A (p.Arg1451His)

SNV
Germline

Chr16:2084574

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
TSC2-related disorder
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA050956

rs_142848358

8 SubmittersRCV000443899 RCV001022342 RCV001082242 RCV004734881 RCV006547878

NM_000548.5(TSC2):c.4397C>T (p.Ser1466Leu)

SNV
Germline

Chr16:2084619

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA051016

rs_45517341

7 SubmittersRCV000226937 RCV000422566 RCV002315686 RCV003390985 RCV003998828

NM_000548.5(TSC2):c.4493+7C>A

SNV
Germline

Chr16:2084722

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA051366

rs_199943270

11 SubmittersRCV000249888 RCV000727250 RCV001082080 RCV005361394

NM_000548.5(TSC2):c.4569+6C>T

SNV
Germline

Chr16:2085032

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA051679

rs_756614796

6 SubmittersRCV000231035 RCV001636732 RCV002257537 RCV006547881

NM_000548.5(TSC2):c.4633A>G (p.Ile1545Val)

SNV
Germline

Chr16:2085293

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA10583336

rs_878854109

4 SubmittersRCV000233971 RCV003165608 RCV003463660 RCV003998830

NM_000548.5(TSC2):c.4639G>A (p.Val1547Ile)

SNV
Germline/somatic

Chr16:2085299

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
TSC2-related disorder

Criteria Provided
Conflicting Classifications

CA051988

rs_745895675

9 SubmittersRCV000228875 RCV000477702 RCV000564060 RCV003235153 RCV003998831 RCV004734882

NM_000548.5(TSC2):c.4795G>A (p.Val1599Met)

SNV
Germline

Chr16:2086325

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
TSC2-related disorder
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA052464

rs_772687631

10 SubmittersRCV000415747 RCV000570208 RCV001088185 RCV004532853 RCV003998833

NM_000548.5(TSC2):c.4822T>A (p.Tyr1608Asn)

SNV
Germline

Chr16:2086352

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10583339

rs_878854111

6 SubmittersRCV000232722 RCV002338708 RCV004567721 RCV006259316

NM_000548.5(TSC2):c.4852G>A (p.Val1618Ile)

SNV
Germline

Chr16:2086734

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA052943

rs_377129517

7 SubmittersRCV000229416 RCV002315687 RCV004584636 RCV003998834

NM_000548.5(TSC2):c.4863C>T (p.Ile1621=)

SNV
Germline

Chr16:2086745

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Tuberous sclerosis syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA052955

rs_142085017

8 SubmittersRCV000233324 RCV000294910 RCV001722216 RCV002338709

NM_000548.5(TSC2):c.4970T>A (p.Phe1657Tyr)

SNV
Germline

Chr16:2086852

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10583340

rs_878854112

6 SubmittersRCV000228578 RCV000761036 RCV001023346

NM_000548.5(TSC2):c.5209C>T (p.Pro1737Ser)

SNV
Germline

Chr16:2088275

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA054437

rs_780112037

8 SubmittersRCV000226974 RCV000564490 RCV001675679 RCV003998837

NM_000548.5(TSC2):c.5318A>G (p.His1773Arg)

SNV
Germline

Chr16:2088504

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA10583346

rs_45517418

8 SubmittersRCV000234553 RCV000497390 RCV002347870 RCV004804952

NM_000548.5(TSC2):c.5319T>C (p.His1773=)

SNV
Germline

Chr16:2088505

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA055081

rs_536518032

7 SubmittersRCV000228307 RCV000248030 RCV001023913 RCV001722218 RCV005401393

NM_000548.5(TSC2):c.5342C>T (p.Pro1781Leu)

SNV
Germline

Chr16:2088528

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA10583347

rs_878854119

5 SubmittersRCV000520770 RCV001086979 RCV002347871 RCV003998839

NM_000368.5(TSC1):c.1874A>C (p.Glu625Ala)

SNV
Germline

Chr9:132905704

Conflicting classifications of pathogenicity

not specified
Tuberous sclerosis 1
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10587021

rs_886038287

6 SubmittersRCV000246586 RCV000475779 RCV001658164 RCV002411112

NM_000548.5(TSC2):c.226-13C>T

SNV
Germline

Chr16:2053329

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA10587221

rs_886038353

7 SubmittersRCV000249272 RCV001711658 RCV001797698 RCV002258865 RCV006547922

NM_000548.5(TSC2):c.849-6T>G

SNV
Germline

Chr16:2058741

Conflicting classifications of pathogenicity

not specified
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA10587222

rs_886038358

3 SubmittersRCV000245598 RCV001049053

NM_000548.5(TSC2):c.1791C>G (p.His597Gln)

SNV
Germline

Chr16:2070530

Conflicting classifications of pathogenicity

not specified
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA10587224

rs_886038350

2 SubmittersRCV000245013 RCV003626612

NM_000368.5(TSC1):c.2593C>T (p.Gln865Ter)

SNV
Germline

Chr9:132900747

Pathogenic

Condition: not provided
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10588469

rs_886039662

3 SubmittersRCV000255336 RCV001859489 RCV002429196

NM_000548.5(TSC2):c.4747G>A (p.Glu1583Lys)

SNV
Germline

Chr16:2086277

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10588598

rs_886039446

4 SubmittersRCV000256049 RCV000707658 RCV002338812

NM_000368.5(TSC1):c.1987G>T (p.Glu663Ter)

SNV
Germline

Chr9:132905591

Pathogenic

Condition: not provided
Tuberous sclerosis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10603105

rs_886041538

3 SubmittersRCV000379901 RCV000557618

NM_000368.5(TSC1):c.738-2A>T

SNV
Germline

Chr9:132912459

Pathogenic

Condition: not provided
Tuberous sclerosis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10603111

rs_118203440

4 SubmittersRCV000309855 RCV000804352

NM_000548.5(TSC2):c.1195G>T (p.Glu399Ter)

SNV
Germline

Chr16:2061946

Pathogenic

Condition: not provided
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA10603287

rs_773920155

3 SubmittersRCV000265342 RCV000609232

NM_000548.5(TSC2):c.2640-2A>G

SNV
Germline

Chr16:2076066

Pathogenic/Likely pathogenic

Condition: not provided
Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA10603300

rs_137854380

5 SubmittersRCV000275327 RCV001855061 RCV002487175

NM_000548.5(TSC2):c.4183C>T (p.Gln1395Ter)

SNV
Germline

Chr16:2084405

Pathogenic

Condition: not provided
Tuberous sclerosis 2
Tuberous sclerosis 1
Tuberous sclerosis syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10603365

rs_886041772

6 SubmittersRCV000267161 RCV001042530 RCV002288954 RCV005865289

NM_000548.5(TSC2):c.1929C>G (p.Tyr643Ter)

SNV
Germline

Chr16:2071599

Pathogenic

Condition: not provided
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA10603513

rs_368710573

3 SubmittersRCV000269157 RCV001204030

NM_000548.5(TSC2):c.4594C>T (p.Gln1532Ter)

SNV
Germline

Chr16:2085254

Pathogenic

Condition: not provided
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA10603520

rs_886041919

3 SubmittersRCV000403179 RCV000550192

NM_000548.5(TSC2):c.3366T>C (p.Arg1122=)

SNV
Germline

Chr16:2079638

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
not specified
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA046154

rs_778352969

9 SubmittersRCV000724868 RCV001020105 RCV001081872 RCV004703570 RCV006547943

NM_000548.5(TSC2):c.849-8A>G

SNV
Germline

Chr16:2058739

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA056570

rs_765336852

10 SubmittersRCV000372838 RCV001079726 RCV001117344

NM_000548.5(TSC2):c.2294C>T (p.Ala765Val)

SNV
Germline

Chr16:2072922

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA10603864

rs_886042145

7 SubmittersRCV000515105 RCV000564756 RCV001086437

NM_000548.5(TSC2):c.3768G>A (p.Pro1256=)

SNV
Germline

Chr16:2081752

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis 2
not specified
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA048352

rs_201599540

10 SubmittersRCV000563343 RCV000724930 RCV001082523 RCV004703571 RCV006547944

NM_000548.5(TSC2):c.3885C>T (p.Asp1295=)

SNV
Germline

Chr16:2083696

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA049473

rs_766771526

5 SubmittersRCV000390278 RCV001087065 RCV002356372

NM_000548.5(TSC2):c.893T>C (p.Phe298Ser)

SNV
Germline

Chr16:2058791

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA056651

rs_747310967

9 SubmittersRCV000394048 RCV000570041 RCV001089419

NM_000548.5(TSC2):c.5001C>T (p.Asn1667=)

SNV
Germline

Chr16:2087874

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA053466

rs_551938797

8 SubmittersRCV000273962 RCV001088051 RCV002338841 RCV003995772

NM_000548.5(TSC2):c.1600-9T>C

SNV
Germline

Chr16:2065510

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA10605312

rs_886043268

6 SubmittersRCV003995776 RCV000725753 RCV001088831

NM_000548.5(TSC2):c.1818C>T (p.Ile606=)

SNV
Germline

Chr16:2070557

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA033655

rs_547389841

8 SubmittersRCV000318008 RCV001080275 RCV002257626 RCV003995778

NM_000548.5(TSC2):c.126G>A (p.Ala42=)

SNV
Germline

Chr16:2048741

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA10605643

rs_886043548

6 SubmittersRCV000374977 RCV000562725 RCV001083832 RCV006547950

NM_000368.5(TSC1):c.1038T>C (p.Leu346=)

SNV
Germline

Chr9:132911105

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1

Criteria Provided
Conflicting Classifications

CA026857

rs_753360364

5 SubmittersRCV000309673 RCV001017108 RCV001084078

NM_000368.5(TSC1):c.947G>A (p.Arg316Gln)

SNV
Germline

Chr9:132911535

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA039900

rs_375956049

9 SubmittersRCV000366220 RCV001085318 RCV002446526 RCV003995780

NM_000548.5(TSC2):c.1134G>A (p.Pro378=)

SNV
Germline

Chr16:2061885

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
TSC2-related disorder

Criteria Provided
Conflicting Classifications

CA028565

rs_754343186

8 SubmittersRCV000310144 RCV001079274 RCV002321961 RCV003995781 RCV004543106

NM_000548.5(TSC2):c.354C>G (p.Val118=)

SNV
Germline

Chr16:2054313

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
TSC2-related disorder
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA047411

rs_762228318

8 SubmittersRCV000338308 RCV001020576 RCV001089150 RCV004537603 RCV003995790

NM_000368.5(TSC1):c.*3830C>T

SNV
Germline

Chr9:132892405

Conflicting classifications of pathogenicity

Isolated focal cortical dysplasia type II
Tuberous sclerosis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10626655

rs_544931538

2 SubmittersRCV000268488 RCV000363193 RCV002263660

NM_000368.5(TSC1):c.*2638C>T

SNV
Germline

Chr9:132893597

Conflicting classifications of pathogenicity

Isolated focal cortical dysplasia type II
Tuberous sclerosis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10626691

rs_373845353

2 SubmittersRCV000279855 RCV000352250 RCV003430959

NM_000368.5(TSC1):c.*279T>G

SNV
Germline

Chr9:132895956

Conflicting classifications of pathogenicity

Isolated focal cortical dysplasia type II
Tuberous sclerosis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10629353

rs_554637460

2 SubmittersRCV000306295 RCV000393191 RCV003430961

NM_000368.5(TSC1):c.1745C>T (p.Thr582Ile)

SNV
Germline

Chr9:132905833

Conflicting classifications of pathogenicity

Isolated focal cortical dysplasia type II
Tuberous sclerosis 1
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10629362

rs_886063623

7 SubmittersRCV000267953 RCV000546659 RCV001810867 RCV002402089

NM_000368.5(TSC1):c.2556G>C (p.Leu852=)

SNV
Germline

Chr9:132900784

Conflicting classifications of pathogenicity

Isolated focal cortical dysplasia type II
Tuberous sclerosis 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA033432

rs_770381040

7 SubmittersRCV000394856 RCV000530667 RCV000828747 RCV001015949 RCV005401423

NM_000368.5(TSC1):c.*2904G>T

SNV
Germline

Chr9:132893331

Conflicting classifications of pathogenicity

Isolated focal cortical dysplasia type II
Tuberous sclerosis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10632969

rs_559978998

2 SubmittersRCV000274280 RCV000371139 RCV002263661

NM_000368.5(TSC1):c.*295C>A

SNV
Germline

Chr9:132895940

Conflicting classifications of pathogenicity

Isolated focal cortical dysplasia type II
Tuberous sclerosis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10633024

rs_113549339

2 SubmittersRCV000337514 RCV000387578 RCV002263662

NM_000368.5(TSC1):c.2965G>T (p.Ala989Ser)

SNV
Germline

Chr9:132897194

Conflicting classifications of pathogenicity

Isolated focal cortical dysplasia type II
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
TSC1-related disorder

Criteria Provided
Conflicting Classifications

CA035133

rs_537585211

9 SubmittersRCV000300433 RCV000868465 RCV001017692 RCV001584094 RCV003392219

NM_000368.5(TSC1):c.2209-3T>C

SNV
Germline

Chr9:132902790

Conflicting classifications of pathogenicity

Isolated focal cortical dysplasia type II
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
not specified

Criteria Provided
Conflicting Classifications

CA031902

rs_368309229

10 SubmittersRCV000357586 RCV000467930 RCV001014788 RCV001697785 RCV005401424 RCV005434885

NM_000548.5(TSC2):c.849-13G>A

SNV
Germline

Chr16:2058734

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA10637322

rs_886051787

5 SubmittersRCV000356020 RCV001545007 RCV001797706

NM_000548.5(TSC2):c.1362-9G>A

SNV
Germline

Chr16:2062963

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA029666

rs_763842281

5 SubmittersRCV000385179 RCV000469906 RCV002255363

NM_000548.5(TSC2):c.2312C>T (p.Thr771Ile)

SNV
Germline

Chr16:2072940

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10637328

rs_886051790

5 SubmittersRCV000309089 RCV000644137 RCV002446569

NM_000548.5(TSC2):c.3492G>A (p.Ala1164=)

SNV
Germline

Chr16:2080259

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
not specified
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
TSC2-related disorder

Criteria Provided
Conflicting Classifications

CA047189

rs_769562717

10 SubmittersRCV000404497 RCV000419952 RCV000868053 RCV002257639 RCV004544572

NM_000548.5(TSC2):c.3733C>T (p.Arg1245Trp)

SNV
Germline

Chr16:2081717

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA048198

rs_777489742

7 SubmittersRCV000356278 RCV000470026 RCV001020999 RCV004999309

NM_000548.5(TSC2):c.4834G>A (p.Asp1612Asn)

SNV
Germline

Chr16:2086364

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10637331

rs_886051795

7 SubmittersRCV000330059 RCV000415620 RCV002338901

NM_000548.5(TSC2):c.5301G>C (p.Leu1767=)

SNV
Germline

Chr16:2088487

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA10637336

rs_886051798

6 SubmittersRCV000285039 RCV000569960 RCV000919016

NM_000548.5(TSC2):c.226-4A>G

SNV
Germline

Chr16:2053338

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10643142

rs_886051786

3 SubmittersRCV000333855 RCV002520992 RCV004948260

NM_000548.5(TSC2):c.1816A>G (p.Ile606Val)

SNV
Germline

Chr16:2070555

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
not specified
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA033640

rs_371074761

10 SubmittersRCV000302466 RCV000518552 RCV000555395 RCV000562015 RCV001545749

NM_000548.5(TSC2):c.4286C>T (p.Ala1429Val)

SNV
Germline

Chr16:2084508

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA050774

rs_757579310

7 SubmittersRCV000357832 RCV000575927 RCV000461781 RCV001548444

NM_000548.5(TSC2):c.739A>G (p.Ile247Val)

SNV
Germline

Chr16:2056734

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
not specified
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA056277

rs_774526017

6 SubmittersRCV000405414 RCV000433208 RCV000465522 RCV002379195

NM_000548.5(TSC2):c.1257+8C>A

SNV
Germline

Chr16:2062016

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
not specified
Tuberous sclerosis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA028945

rs_767392684

6 SubmittersRCV000266941 RCV000432687 RCV000456424 RCV006259380

NM_000548.5(TSC2):c.2372G>T (p.Cys791Phe)

SNV
Germline

Chr16:2074216

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Isolated focal cortical dysplasia type II
TSC2-related disorder

Criteria Provided
Conflicting Classifications

CA038816

rs_758961134

8 SubmittersRCV000307485 RCV000687605 RCV002450875 RCV002487404 RCV003469253 RCV004734976

NM_000548.5(TSC2):c.3210G>A (p.Thr1070=)

SNV
Germline

Chr16:2079354

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA044765

rs_539927192

6 SubmittersRCV000291968 RCV000460916 RCV001019265

NM_000548.5(TSC2):c.5308C>T (p.Pro1770Ser)

SNV
Germline

Chr16:2088494

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided
not specified
Hereditary cancer-predisposing syndrome
TSC2-related disorder

Criteria Provided
Conflicting Classifications

CA055015

rs_761181064

11 SubmittersRCV000340010 RCV000457441 RCV001545216 RCV002298569 RCV002255364 RCV004537798

NM_000548.5(TSC2):c.258G>C (p.Ala86=)

SNV
Germline

Chr16:2053374

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
TSC2-related disorder

Criteria Provided
Conflicting Classifications

CA10648011

rs_397514912

6 SubmittersRCV000375405 RCV000870004 RCV001016034 RCV004537796

NM_000548.5(TSC2):c.1622C>G (p.Pro541Arg)

SNV
Germline

Chr16:2065541

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA031797

rs_752953762

8 SubmittersRCV000298128 RCV000461333 RCV001012444 RCV000765263 RCV003482249

NM_000548.5(TSC2):c.2355+8G>A

SNV
Germline

Chr16:2072991

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
not specified
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA038645

rs_199558375

5 SubmittersRCV000268704 RCV000437689 RCV001432749

NM_000548.5(TSC2):c.2834A>G (p.Lys945Arg)

SNV
Germline

Chr16:2076582

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10648020

rs_886051791

6 SubmittersRCV000319884 RCV000686655 RCV001551212 RCV002436165

NM_000548.5(TSC2):c.3196C>T (p.Leu1066Phe)

SNV
Germline

Chr16:2079340

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10648022

rs_886051793

5 SubmittersRCV000402137 RCV000698685 RCV003298377

NM_000548.5(TSC2):c.4888G>A (p.Val1630Met)

SNV
Germline

Chr16:2086770

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
TSC2-related disorder

Criteria Provided
Conflicting Classifications

CA10648023

rs_886051796

7 SubmittersRCV000371761 RCV001079540 RCV000839227 RCV001023201 RCV004537797

NM_000368.5(TSC1):c.1998-2A>G

SNV
Germline

Chr9:132904456

Pathogenic/Likely pathogenic

Condition: not provided
Tuberous sclerosis syndrome
Tuberous sclerosis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16042671

rs_1057518217

3 SubmittersRCV000413689 RCV003323527 RCV003505107

NM_000548.5(TSC2):c.3454A>C (p.Ser1152Arg)

SNV
Germline

Chr16:2080221

Conflicting classifications of pathogenicity

not specified
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA046905

rs_772215032

2 SubmittersRCV000413038 RCV003512037

NM_000548.5(TSC2):c.4493+1G>A

SNV
Germline

Chr16:2084716

Pathogenic

Condition: not provided
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA16042990

rs_1057518230

4 SubmittersRCV000412742 RCV001797714

NM_000548.5(TSC2):c.5234G>A (p.Arg1745His)

SNV
Germline

Chr16:2088300

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA054529

rs_766093661

7 SubmittersRCV000689057 RCV001023775 RCV001705542 RCV005401429

NM_000548.5(TSC2):c.5260-1G>C

SNV
Germline

Chr16:2088445

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome
Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA16043000

rs_1057518103

10 SubmittersRCV000413128 RCV000540578 RCV002338971 RCV003463819 RCV003995917 RCV005018708

NM_000548.5(TSC2):c.886G>A (p.Val296Met)

SNV
Germline

Chr16:2058784

Conflicting classifications of pathogenicity

Cortical tubers
Tuberous sclerosis 2
Lymphangiomyomatosis
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA16043501

rs_747237113

6 SubmittersRCV000415290 RCV000466469 RCV001197195 RCV002285328 RCV002374622 RCV006549990

NM_000548.5(TSC2):c.2356C>T (p.Arg786Cys)

SNV
Germline

Chr16:2074200

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA038725

rs_767252128

6 SubmittersRCV000415953 RCV001079272 RCV001015130

NM_000368.5(TSC1):c.2269G>T (p.Glu757Ter)

SNV
Germline

Chr9:132902727

Likely pathogenic

Tuberous sclerosis 1

Criteria Provided
Single Submitter

CA16044045

rs_1057519319

1 SubmittersRCV000416374

NM_000368.5(TSC1):c.1589G>C (p.Ser530Thr)

SNV
Germline

Chr9:132905989

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Malignant tumor of breast
TSC1-related disorder
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA029137

rs_368481360

10 SubmittersRCV000437432 RCV000565665 RCV000606212 RCV001085125 RCV001167779 RCV001269495 RCV003950339 RCV006549993

NM_000368.5(TSC1):c.2641A>T (p.Lys881Ter)

SNV
Germline

Chr9:132897595

Pathogenic

Condition: not provided
Tuberous sclerosis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16605392

rs_1057520444

2 SubmittersRCV000425755 RCV003505110

NM_000368.5(TSC1):c.3076G>A (p.Ala1026Thr)

SNV
Germline

Chr9:132896654

Conflicting classifications of pathogenicity

not specified
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
TSC1-related disorder

Criteria Provided
Conflicting Classifications

CA035755

rs_533565295

7 SubmittersRCV000424313 RCV000556341 RCV001018495 RCV003996015 RCV004745375

NM_000368.5(TSC1):c.2311A>G (p.Met771Val)

SNV
Germline

Chr9:132902685

Conflicting classifications of pathogenicity

not specified
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16605547

rs_1057522203

3 SubmittersRCV000424798 RCV001861557 RCV002256231

NM_000368.5(TSC1):c.1811A>G (p.Tyr604Cys)

SNV
Germline

Chr9:132905767

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA16605641

rs_1057522817

7 SubmittersRCV000436287 RCV000548490 RCV002411368 RCV002481320 RCV004567920 RCV004000473

NM_000368.5(TSC1):c.1178C>T (p.Thr393Ile)

SNV
Germline

Chr9:132910656

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Tuberous sclerosis 1
Lymphangiomyomatosis
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA16605642

rs_201452238

9 SubmittersRCV000465751 RCV000576108 RCV001079535 RCV002481304 RCV003996037

NM_000368.5(TSC1):c.738-10C>A

SNV
Germline

Chr9:132912467

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA038740

rs_768158324

6 SubmittersRCV000473132 RCV001169729 RCV001703507 RCV002257668 RCV006550000

NM_000368.5(TSC1):c.110G>A (p.Arg37His)

SNV
Germline

Chr9:132927301

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Condition: not provided
TSC1-related disorder
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA027051

rs_750441497

9 SubmittersRCV000491924 RCV000468501 RCV001703752 RCV003942369 RCV004000387

NM_000368.5(TSC1):c.2945A>G (p.Lys982Arg)

SNV
Germline

Chr9:132897214

Conflicting classifications of pathogenicity

not specified
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16606315

rs_1057520508

3 SubmittersRCV000428530 RCV001851042 RCV004678698

NM_000368.5(TSC1):c.1163T>C (p.Leu388Pro)

SNV
Germline

Chr9:132910671

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis 1
Tuberous sclerosis syndrome
TSC1-related disorder

Criteria Provided
Conflicting Classifications

CA027202

rs_377598226

11 SubmittersRCV000567359 RCV000734481 RCV001083120 RCV003995989 RCV003902488

NM_000368.5(TSC1):c.541C>T (p.His181Tyr)

SNV
Germline

Chr9:132921941

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA16606318

rs_1057524690

6 SubmittersRCV000427937 RCV001024073 RCV001047121 RCV004567926

NM_000368.5(TSC1):c.167C>T (p.Pro56Leu)

SNV
Germline

Chr9:132927244

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA029375

rs_750512029

5 SubmittersRCV000444035 RCV000564089 RCV001088285 RCV004000499

NM_000548.5(TSC2):c.759C>T (p.Cys253=)

SNV
Germline

Chr16:2056754

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome
TSC2-related disorder

Criteria Provided
Conflicting Classifications

CA056333

rs_45517125

11 SubmittersRCV000467398 RCV001026603 RCV001088133 RCV004000515 RCV004735523

NM_000548.5(TSC2):c.1840-4A>G

SNV
Germline

Chr16:2071506

Conflicting classifications of pathogenicity

not specified
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16606928

rs_1057523736

7 SubmittersRCV000427325 RCV001463300 RCV002063530 RCV004000537 RCV005512735

NM_000548.5(TSC2):c.1889G>A (p.Gly630Asp)

SNV
Germline

Chr16:2071559

Conflicting classifications of pathogenicity

not specified
Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA16606929

rs_1057520642

6 SubmittersRCV000444052 RCV000546851 RCV000767144 RCV002411311 RCV005018723

NM_000548.5(TSC2):c.2054C>G (p.Pro685Arg)

SNV
Germline

Chr16:2071891

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16606930

rs_959165669

4 SubmittersRCV000423620 RCV000558616 RCV003298436

NM_000548.5(TSC2):c.2528T>C (p.Leu843Pro)

SNV
Germline

Chr16:2074372

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA16606932

rs_1057522911

2 SubmittersRCV000433607 RCV003512044

NM_000548.5(TSC2):c.3100G>A (p.Val1034Ile)

SNV
Germline

Chr16:2079165

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA044207

rs_146745242

9 SubmittersRCV000468896 RCV000571036 RCV001698259 RCV005402917

NM_000548.5(TSC2):c.3710C>T (p.Ala1237Val)

SNV
Germline

Chr16:2081694

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
TSC2-related disorder
not specified
Ovarian serous cystadenocarcinoma
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA048133

rs_753907159

9 SubmittersRCV000964609 RCV001020951 RCV001703809 RCV004533019 RCV003235210 RCV005896664 RCV006550027

NM_000548.5(TSC2):c.3779C>T (p.Thr1260Met)

SNV
Germline

Chr16:2081763

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA048383

rs_776738338

8 SubmittersRCV000435216 RCV001080300 RCV002257673 RCV004805000

NM_000548.5(TSC2):c.3918C>T (p.Gly1306=)

SNV
Germline

Chr16:2083729

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
TSC2-related disorder

Criteria Provided
Conflicting Classifications

CA049614

rs_368712041

8 SubmittersRCV000727389 RCV001080132 RCV002313118 RCV004735522

NM_000548.5(TSC2):c.4006-12G>A

SNV
Germline

Chr16:2084216

Conflicting classifications of pathogenicity

not specified
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA16606954

rs_1057524490

2 SubmittersRCV000426254 RCV005090878

NM_000548.5(TSC2):c.4549C>A (p.Pro1517Thr)

SNV
Germline

Chr16:2085006

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA16606959

rs_1057522800

5 SubmittersRCV000442144 RCV001088704 RCV002328973 RCV005018731

NM_000548.5(TSC2):c.-34G>A

SNV
Germline

Chr16:2048061

Conflicting classifications of pathogenicity

not specified
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA16607133

rs_559641280

2 SubmittersRCV000445322 RCV001117228

NM_000548.5(TSC2):c.83C>A (p.Pro28His)

SNV
Germline

Chr16:2048698

Conflicting classifications of pathogenicity

not specified
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA16607134

rs_1057522105

6 SubmittersRCV000428159 RCV000468568 RCV002436294 RCV004000421

NM_000548.5(TSC2):c.336+5G>C

SNV
Germline

Chr16:2053457

Pathogenic/Likely pathogenic

Tuberous sclerosis 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16607137

rs_1057523242

3 SubmittersRCV000817980 RCV001698247

NM_000548.5(TSC2):c.1032G>A (p.Arg344=)

SNV
Germline

Chr16:2060726

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16607138

rs_1057524033

4 SubmittersRCV001721443 RCV002522626 RCV004948291

NM_000548.5(TSC2):c.1303C>T (p.His435Tyr)

SNV
Germline

Chr16:2062542

Conflicting classifications of pathogenicity

not specified
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA029254

rs_760896048

8 SubmittersRCV000444336 RCV001221267 RCV002318425 RCV004000390

NM_000548.5(TSC2):c.2030C>T (p.Pro677Leu)

SNV
Germline

Chr16:2071867

Conflicting classifications of pathogenicity

not specified
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA035873

rs_376974525

7 SubmittersRCV000439541 RCV000470228 RCV001014141 RCV004000404 RCV005018728

NM_000548.5(TSC2):c.2147C>T (p.Ser716Phe)

SNV
Germline

Chr16:2072290

Conflicting classifications of pathogenicity

not specified
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA036848

rs_781153452

5 SubmittersRCV000436141 RCV001359510 RCV002429378 RCV003996049

NM_000548.5(TSC2):c.3472C>G (p.Pro1158Ala)

SNV
Germline

Chr16:2080239

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA046994

rs_759350468

4 SubmittersRCV000438616 RCV003766401 RCV004805018 RCV005762018

NM_000548.5(TSC2):c.3554C>T (p.Ala1185Val)

SNV
Germline

Chr16:2080321

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA16607153

rs_1057521812

5 SubmittersRCV000435796 RCV001020594 RCV001797719

NM_000548.5(TSC2):c.3788C>T (p.Pro1263Leu)

SNV
Germline

Chr16:2081772

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA16607157

rs_1057523452

6 SubmittersRCV000422551 RCV001088069 RCV002256234 RCV004000516

NM_000548.5(TSC2):c.4165C>T (p.Pro1389Ser)

SNV
Germline

Chr16:2084387

Conflicting classifications of pathogenicity

not specified
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA16607165

rs_1057520843

2 SubmittersRCV000426687 RCV003626619

NM_000548.5(TSC2):c.4275G>A (p.Gly1425=)

SNV
Germline

Chr16:2084497

Conflicting classifications of pathogenicity

not specified
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA16607170

rs_1057522238

6 SubmittersRCV000421876 RCV000644394 RCV001022195 RCV001117776

NM_000548.5(TSC2):c.4321C>T (p.Pro1441Ser)

SNV
Germline

Chr16:2084543

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16607171

rs_201710642

8 SubmittersRCV000441035 RCV001086097 RCV001119330 RCV002328977

NM_000548.5(TSC2):c.4849+20C>T

SNV
Germline

Chr16:2086399

Conflicting classifications of pathogenicity

not specified
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA052763

rs_140884776

4 SubmittersRCV000425338 RCV002062747 RCV004017616

NM_000548.5(TSC2):c.4989+5G>A

SNV
Germline

Chr16:2086876

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA16607172

rs_1057522671

3 SubmittersRCV000439876 RCV003380560 RCV005055977

NM_000548.5(TSC2):c.975+7C>T

SNV
Germline

Chr16:2058880

Conflicting classifications of pathogenicity

not specified
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA056774

rs_372463702

5 SubmittersRCV000429010 RCV000456230

NM_000548.5(TSC2):c.2545A>G (p.Thr849Ala)

SNV
Germline

Chr16:2074389

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA16607307

rs_781713438

8 SubmittersRCV000432659 RCV001079672 RCV001015871 RCV004000567 RCV005018737

NM_000548.5(TSC2):c.2742+6C>G

SNV
Germline

Chr16:2076176

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA16607312

rs_377568673

4 SubmittersRCV001223399 RCV001720211 RCV006550031

NM_000548.5(TSC2):c.3088A>G (p.Met1030Val)

SNV
Germline

Chr16:2079153

Conflicting classifications of pathogenicity

not specified
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA044156

rs_754276150

7 SubmittersRCV000433002 RCV000456443 RCV002323631 RCV004999406 RCV006550044

NM_000548.5(TSC2):c.1240T>G (p.Cys414Gly)

SNV
Germline

Chr16:2061991

Pathogenic/Likely pathogenic

Condition: not provided
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA16608029

rs_1057523509

2 SubmittersRCV000430283 RCV001861619

NM_000548.5(TSC2):c.1443+5G>A

SNV
Germline

Chr16:2063058

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Thymoma

Criteria Provided
Conflicting Classifications

CA16608034

rs_1057521562

6 SubmittersRCV000435773 RCV000707005 RCV002392987 RCV003463829 RCV005896661

NM_000548.5(TSC2):c.2220+4C>G

SNV
Germline

Chr16:2072367

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis 2
Tuberous sclerosis syndrome
TSC2-related disorder

Criteria Provided
Conflicting Classifications

CA037431

rs_781186613

11 SubmittersRCV000574046 RCV000727502 RCV001079788 RCV004000345 RCV004539808

NM_000548.5(TSC2):c.2640-10C>G

SNV
Germline

Chr16:2076058

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA16608050

rs_964883731

4 SubmittersRCV001214953 RCV001720210 RCV006550030

NM_000548.5(TSC2):c.3818C>T (p.Ala1273Val)

SNV
Germline

Chr16:2082439

Conflicting classifications of pathogenicity

not specified
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA048770

rs_749367382

10 SubmittersRCV000441786 RCV000469602 RCV000567292 RCV001354866 RCV006550012

NM_000548.5(TSC2):c.4849+3A>G

SNV
Germline

Chr16:2086382

Conflicting classifications of pathogenicity

not specified
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA16608071

rs_1057521378

5 SubmittersRCV000438097 RCV002519545 RCV004948283 RCV004000369

NM_000548.5(TSC2):c.5384G>A (p.Arg1795His)

SNV
Germline

Chr16:2088570

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA055272

rs_137854288

11 SubmittersRCV000423075 RCV000565678 RCV000531557 RCV004000340 RCV004808709

NM_000548.5(TSC2):c.*7G>A

SNV
Germline

Chr16:2088617

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2
TSC2-related disorder

Criteria Provided
Conflicting Classifications

CA7828404

rs_765016970

5 SubmittersRCV001121428 RCV001703563 RCV001797717 RCV004530563

NM_000548.5(TSC2):c.5168C>G (p.Ser1723Ter)

SNV
Germline

Chr16:2088234

Pathogenic/Likely pathogenic

Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA16609418

rs_1060499676

2 SubmittersRCV000449506 RCV002502593

NM_000368.5(TSC1):c.3424C>G (p.Pro1142Ala)

SNV
Germline

Chr9:132896306

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA16612438

rs_1060503227

4 SubmittersRCV000474187 RCV001020266 RCV004568066

NM_000368.5(TSC1):c.3209C>T (p.Ala1070Val)

SNV
Germline

Chr9:132896521

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA16612440

rs_1060503200

6 SubmittersRCV000470360 RCV002307508 RCV003168847 RCV004001892

NM_000368.5(TSC1):c.3091G>A (p.Gly1031Arg)

SNV
Germline

Chr9:132896639

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA035781

rs_772043928

3 SubmittersRCV000462134 RCV002323742 RCV006550129

NM_000368.5(TSC1):c.3059C>T (p.Thr1020Ile)

SNV
Germline

Chr9:132896671

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16612441

rs_1060503214

3 SubmittersRCV000467181 RCV000572644

NM_000368.5(TSC1):c.3019C>T (p.His1007Tyr)

SNV
Germline

Chr9:132896711

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA035635

rs_764738792

7 SubmittersRCV000468231 RCV000567330 RCV003139664 RCV004001900

NM_000368.5(TSC1):c.2893T>A (p.Leu965Ile)

SNV
Germline

Chr9:132897266

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16612444

rs_1060503217

5 SubmittersRCV000471719 RCV001016836 RCV002525597

NM_000368.5(TSC1):c.2323C>T (p.Leu775Phe)

SNV
Germline

Chr9:132902673

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA16612447

rs_868755168

7 SubmittersRCV000456582 RCV000568606 RCV001167710 RCV001538625 RCV004001888

NM_000368.5(TSC1):c.1781T>A (p.Val594Glu)

SNV
Germline

Chr9:132905797

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA16612455

rs_1060503194

4 SubmittersRCV000474044 RCV001013134 RCV002489077

NM_000368.5(TSC1):c.1585G>A (p.Ala529Thr)

SNV
Germline

Chr9:132905993

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
not specified
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 1
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA029113

rs_751125011

7 SubmittersRCV000461460 RCV001174799 RCV002258915 RCV005044697 RCV006550134

NM_000368.5(TSC1):c.1317G>C (p.Leu439=)

SNV
Germline

Chr9:132907317

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Tuberous sclerosis syndrome
TSC1-related disorder

Criteria Provided
Conflicting Classifications

CA028040

rs_770692313

9 SubmittersRCV000827336 RCV001010956 RCV001086396 RCV004002195 RCV004745416

NM_000368.5(TSC1):c.1217A>G (p.Tyr406Cys)

SNV
Germline

Chr9:132910617

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA027303

rs_143502728

5 SubmittersRCV000464560 RCV001764438 RCV002356699 RCV004001898

NM_000368.5(TSC1):c.1096C>G (p.Pro366Ala)

SNV
Germline

Chr9:132911047

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16612486

rs_1041988929

2 SubmittersRCV000467445 RCV004022868

NM_000368.5(TSC1):c.857C>G (p.Pro286Arg)

SNV
Germline

Chr9:132912338

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA039224

rs_375144225

9 SubmittersRCV000475554 RCV001018033 RCV001591100 RCV003155192 RCV004001908

NM_000368.5(TSC1):c.771C>T (p.Ile257=)

SNV
Germline

Chr9:132912424

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16612495

rs_1060504854

5 SubmittersRCV000460567 RCV002402364 RCV004002191 RCV004777680

NM_000368.5(TSC1):c.527A>G (p.Tyr176Cys)

SNV
Germline

Chr9:132921955

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA16612498

rs_1060503209

6 SubmittersRCV000475434 RCV001764439 RCV002348332 RCV003476100 RCV006550132

NM_000368.5(TSC1):c.3300C>T (p.Ser1100=)

SNV
Germline

Chr9:132896430

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
not specified
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA036396

rs_754282309

7 SubmittersRCV000471445 RCV000612784 RCV002258914 RCV004001887

NM_000368.5(TSC1):c.3113G>A (p.Ser1038Asn)

SNV
Germline

Chr9:132896617

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA16612560

rs_1060503196

4 SubmittersRCV000460336 RCV002323743 RCV004001890

NM_000368.5(TSC1):c.3067C>T (p.Pro1023Ser)

SNV
Germline

Chr9:132896663

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA035733

rs_138445573

4 SubmittersRCV000457246 RCV002446833 RCV004001893

NM_000368.5(TSC1):c.2830G>A (p.Ala944Thr)

SNV
Germline

Chr9:132897329

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA034791

rs_751362258

6 SubmittersRCV000467686 RCV001016721 RCV004001896

NM_000368.5(TSC1):c.2672A>G (p.Asn891Ser)

SNV
Germline

Chr9:132897564

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Lymphangiomyomatosis
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA16612565

rs_1060503203

5 SubmittersRCV000475479 RCV001016277 RCV000829005 RCV005044696

NM_000368.5(TSC1):c.2391+1G>C

SNV
Germline

Chr9:132902604

Likely pathogenic

Tuberous sclerosis 1

Criteria Provided
Single Submitter

CA16612572

rs_1060503224

1 SubmittersRCV000463910

NM_000368.5(TSC1):c.1439-10T>A

SNV
Germline

Chr9:132906149

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA16612582

rs_1060504852

3 SubmittersRCV000467353 RCV004002185

NM_000368.5(TSC1):c.1194C>G (p.Ala398=)

SNV
Germline

Chr9:132910640

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Condition: not provided
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA16612586

rs_1060504861

6 SubmittersRCV000473192 RCV002350040 RCV004002203 RCV003328589 RCV005600940

NM_000368.5(TSC1):c.943T>A (p.Ser315Thr)

SNV
Germline

Chr9:132911539

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA039861

rs_185815387

2 SubmittersRCV000459038 RCV004022867

NM_000368.5(TSC1):c.514G>A (p.Val172Met)

SNV
Germline

Chr9:132921968

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA16612590

rs_952813051

7 SubmittersRCV000474318 RCV000571730 RCV001548481 RCV004001906

NM_000368.5(TSC1):c.3177C>G (p.Phe1059Leu)

SNV
Germline

Chr9:132896553

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Ovarian cancer
Tuberous sclerosis syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA036094

rs_753263747

6 SubmittersRCV000468565 RCV001018981 RCV003153637 RCV004802013 RCV004812320

NM_000368.5(TSC1):c.2813+5C>T

SNV
Germline

Chr9:132897418

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA16612623

rs_1060503223

3 SubmittersRCV000472166 RCV002436454 RCV004802016

NM_000368.5(TSC1):c.1253C>A (p.Pro418His)

SNV
Germline

Chr9:132910581

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16612640

rs_997339959

2 SubmittersRCV000469111 RCV004022869

NM_000368.5(TSC1):c.1238A>G (p.Gln413Arg)

SNV
Germline

Chr9:132910596

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA16612643

rs_1060503218

5 SubmittersRCV000457363 RCV000568537 RCV002489078 RCV004001905

NM_000368.5(TSC1):c.1209G>A (p.Ser403=)

SNV
Germline

Chr9:132910625

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA027292

rs_141184479

9 SubmittersRCV000475936 RCV000562014 RCV001683506 RCV004001904

NM_000368.5(TSC1):c.899C>T (p.Thr300Ile)

SNV
Germline

Chr9:132912296

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA039371

rs_370916731

6 SubmittersRCV000474131 RCV000561523 RCV003476097 RCV004802014

NM_000368.5(TSC1):c.830T>C (p.Val277Ala)

SNV
Germline

Chr9:132912365

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA16612648

rs_200749357

3 SubmittersRCV000459301 RCV002429539 RCV004001895

NM_000368.5(TSC1):c.519G>A (p.Ala173=)

SNV
Germline

Chr9:132921963

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
not specified
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA037966

rs_768999400

8 SubmittersRCV000462166 RCV000601036 RCV001023702 RCV001165739 RCV004002199

NM_000368.5(TSC1):c.362A>T (p.Lys121Met)

SNV
Germline

Chr9:132925588

Likely pathogenic

Tuberous sclerosis 1
Tuberous sclerosis syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16612651

rs_118203369

2 SubmittersRCV000474214 RCV006268792

NM_000368.5(TSC1):c.54G>C (p.Met18Ile)

SNV
Germline

Chr9:132928819

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis 1
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA16612657

rs_940292214

5 SubmittersRCV000571184 RCV000756827 RCV001089381 RCV004001897

NM_000368.5(TSC1):c.3319G>A (p.Asp1107Asn)

SNV
Germline

Chr9:132896411

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16612730

rs_1060503226

2 SubmittersRCV000474862 RCV002323745

NM_000368.5(TSC1):c.3244C>G (p.Pro1082Ala)

SNV
Germline

Chr9:132896486

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA16612731

rs_1060503191

4 SubmittersRCV000475425 RCV001019417 RCV004001886

NM_000368.5(TSC1):c.2975+6A>T

SNV
Germline

Chr9:132897178

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Lymphangiomyomatosis
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA16612734

rs_1060503220

4 SubmittersRCV000460184 RCV002481464 RCV004001907

NM_000368.5(TSC1):c.2683G>A (p.Val895Ile)

SNV
Germline

Chr9:132897553

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA034261

rs_576476807

3 SubmittersRCV000466864 RCV002436452

NM_000368.5(TSC1):c.2626-3C>T

SNV
Germline

Chr9:132897613

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Condition: not provided
Hereditary cancer-predisposing syndrome
TSC1-related disorder
Tuberous sclerosis syndrome
Acute myeloid leukemia
Cholangiocarcinoma
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA16612736

rs_1060503192

11 SubmittersRCV000460170 RCV001703175 RCV002429538 RCV003912811 RCV005401450 RCV005899501 RCV005899502 RCV005899500

NM_000368.5(TSC1):c.2614G>C (p.Asp872His)

SNV
Germline

Chr9:132900726

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Lymphangiomyomatosis
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA16612739

rs_746607455

5 SubmittersRCV000458622 RCV001016107 RCV004721377 RCV005044699

NM_000368.5(TSC1):c.2303G>A (p.Arg768His)

SNV
Germline

Chr9:132902693

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 1
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA16612757

rs_1033725987

6 SubmittersRCV000467121 RCV000575617 RCV000764812 RCV004802015

NM_000368.5(TSC1):c.2023G>A (p.Asp675Asn)

SNV
Germline

Chr9:132904429

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA16612762

rs_768189353

3 SubmittersRCV000469642 RCV002418418 RCV004001909

NM_000368.5(TSC1):c.1916G>T (p.Gly639Val)

SNV
Germline

Chr9:132905662

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis 1
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA030103

rs_372583166

9 SubmittersRCV000473830 RCV000491881 RCV001090688 RCV005398636 RCV006550135

NM_000368.5(TSC1):c.1818T>A (p.His606Gln)

SNV
Germline

Chr9:132905760

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome
not specified

Criteria Provided
Conflicting Classifications

CA029913

rs_758769193

5 SubmittersRCV000462659 RCV002411506 RCV003476099 RCV006550131 RCV005418142

NM_000368.5(TSC1):c.1594A>T (p.Asn532Tyr)

SNV
Germline

Chr9:132905984

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA029180

rs_765149885

6 SubmittersRCV000475896 RCV001012341 RCV001770354 RCV004001891

NM_000368.5(TSC1):c.1355G>C (p.Gly452Ala)

SNV
Germline

Chr9:132906814

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Craniopharyngioma
Hereditary cancer-predisposing syndrome
Condition: not provided
TSC1-related disorder
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 1
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA028454

rs_371093730

9 SubmittersRCV000470038 RCV000761012 RCV001011148 RCV001591099 RCV004745404 RCV005044698 RCV006550136

NM_000368.5(TSC1):c.1138A>G (p.Thr380Ala)

SNV
Germline

Chr9:132911005

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16612770

rs_1060503216

2 SubmittersRCV000462240 RCV002323744

NM_000368.5(TSC1):c.1113C>A (p.His371Gln)

SNV
Germline

Chr9:132911030

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
TSC1-related disorder
Tuberous sclerosis syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA027069

rs_771217333

6 SubmittersRCV000475917 RCV001017361 RCV003401488 RCV004001903 RCV004721376

NM_000368.5(TSC1):c.862C>T (p.Arg288Cys)

SNV
Germline

Chr9:132912333

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA039240

rs_770653972

9 SubmittersRCV000458416 RCV000565985 RCV000610190 RCV004001889

NM_000368.5(TSC1):c.597C>T (p.Phe199=)

SNV
Germline

Chr9:132921885

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Tuberous sclerosis 1
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA038194

rs_202242304

8 SubmittersRCV000457356 RCV001024739 RCV001540781 RCV002496840 RCV004002201

NM_000368.5(TSC1):c.389C>T (p.Thr130Ile)

SNV
Germline

Chr9:132923467

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA037444

rs_779340088

2 SubmittersRCV000470585 RCV002356698

NM_000548.5(TSC2):c.673G>A (p.Val225Met)

SNV
Germline

Chr16:2056668

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA056118

rs_142919353

9 SubmittersRCV000466214 RCV000572112 RCV002510893 RCV004000698 RCV005018754

NM_000548.5(TSC2):c.733C>T (p.Arg245Cys)

SNV
Germline

Chr16:2056728

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA056249

rs_375574283

7 SubmittersRCV000472885 RCV000565481 RCV001584139 RCV004000689

NM_000548.5(TSC2):c.922C>T (p.Arg308Trp)

SNV
Germline

Chr16:2058820

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA056666

rs_201144475

8 SubmittersRCV000732320 RCV001086904 RCV002255384 RCV004000681

NM_000548.5(TSC2):c.1115T>C (p.Leu372Pro)

SNV
Germline

Chr16:2060809

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA16614653

rs_1060500919

7 SubmittersRCV000457917 RCV001017372 RCV002244933 RCV003463864 RCV006550089

NM_000548.5(TSC2):c.1362G>C (p.Arg454Ser)

SNV
Germline

Chr16:2062972

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA029692

rs_374252944

6 SubmittersRCV000470761 RCV001011130 RCV001591076 RCV004000707

NM_000548.5(TSC2):c.1874C>T (p.Ser625Leu)

SNV
Germline

Chr16:2071544

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
TSC2-related disorder

Criteria Provided
Conflicting Classifications

CA034344

rs_368285556

7 SubmittersRCV000459822 RCV001584142 RCV002411436 RCV004000725 RCV004529591

NM_000548.5(TSC2):c.2039G>A (p.Arg680Gln)

SNV
Germline

Chr16:2071876

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA035970

rs_756536921

6 SubmittersRCV000464533 RCV001014158 RCV001310309 RCV004000691

NM_000548.5(TSC2):c.2133C>T (p.Gly711=)

SNV
Germline

Chr16:2072276

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis

Criteria Provided
Conflicting Classifications

CA16614672

rs_1060500915

3 SubmittersRCV000472097 RCV002418363 RCV005018751

NM_000548.5(TSC2):c.2473G>C (p.Val825Leu)

SNV
Germline

Chr16:2074317

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA039144

rs_149860212

3 SubmittersRCV000458453 RCV002451086 RCV004000686

NM_000548.5(TSC2):c.576C>T (p.Asp192=)

SNV
Germline

Chr16:2055496

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
not specified
Tuberous sclerosis syndrome
TSC2-related disorder

Criteria Provided
Conflicting Classifications

CA055420

rs_761704292

9 SubmittersRCV000728148 RCV001083499 RCV002256287 RCV003323552 RCV004002062 RCV004533226

NM_000548.5(TSC2):c.953C>T (p.Ser318Phe)

SNV
Germline

Chr16:2058851

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA16614697

rs_1060500970

6 SubmittersRCV000524092 RCV001080775 RCV002379425 RCV004000722

NM_000548.5(TSC2):c.991A>G (p.Asn331Asp)

SNV
Germline

Chr16:2060685

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16614698

rs_1060500974

2 SubmittersRCV000474153 RCV004948316

NM_000548.5(TSC2):c.3158C>T (p.Ala1053Val)

SNV
Germline

Chr16:2079302

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA044608

rs_760214724

6 SubmittersRCV000470486 RCV002323694 RCV004000713 RCV006259932

NM_000548.5(TSC2):c.1046A>G (p.Tyr349Cys)

SNV
Germline

Chr16:2060740

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16614703

rs_1060500916

4 SubmittersRCV000460360 RCV002402240 RCV004000679 RCV004760500

NM_000548.5(TSC2):c.3254C>T (p.Ser1085Leu)

SNV
Germline

Chr16:2079398

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
TSC2-related disorder

Criteria Provided
Conflicting Classifications

CA16614705

rs_45517287

4 SubmittersRCV000463902 RCV000571612 RCV004735538

NM_000548.5(TSC2):c.3287C>T (p.Ser1096Phe)

SNV
Germline

Chr16:2079559

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
TSC2-related disorder
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA045537

rs_140772300

10 SubmittersRCV000464873 RCV000569892 RCV001721496 RCV004533160 RCV005398591 RCV006550090

NM_000548.5(TSC2):c.1474C>T (p.Gln492Ter)

SNV
Germline

Chr16:2064302

Pathogenic

Tuberous sclerosis 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16614712

rs_1060500931

2 SubmittersRCV000471983 RCV004721367

NM_000548.5(TSC2):c.1577G>A (p.Ser526Asn)

SNV
Germline

Chr16:2064405

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA031083

rs_376573446

9 SubmittersRCV000471506 RCV001012244 RCV001564370 RCV006550085

NM_000548.5(TSC2):c.3293C>T (p.Pro1098Leu)

SNV
Germline

Chr16:2079565

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA045588

rs_773545852

8 SubmittersRCV000468858 RCV000575419 RCV001567190 RCV006550087

NM_000548.5(TSC2):c.3379C>T (p.Arg1127Trp)

SNV
Germline

Chr16:2079651

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
TSC2-related disorder
Tuberous sclerosis syndrome
not specified

Criteria Provided
Conflicting Classifications

CA046408

rs_373939435

11 SubmittersRCV000456897 RCV001020136 RCV001618706 RCV004533165 RCV004801986 RCV005418135

NM_000548.5(TSC2):c.1774A>G (p.Ser592Gly)

SNV
Germline

Chr16:2070513

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16614713

rs_910068556

5 SubmittersRCV000466443 RCV000570630 RCV000765265 RCV003325482

NM_000548.5(TSC2):c.3395C>T (p.Ser1132Leu)

SNV
Germline

Chr16:2079667

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA046484

rs_137854074

8 SubmittersRCV000462249 RCV000569265 RCV002056709 RCV006550109

NM_000548.5(TSC2):c.1839+9G>A

SNV
Germline

Chr16:2070587

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided
Lymphangiomyomatosis
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA033989

rs_751834233

4 SubmittersRCV000465685 RCV004999492 RCV005018788

NM_000548.5(TSC2):c.1840-3C>T

SNV
Germline

Chr16:2071507

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16614719

rs_397515154

2 SubmittersRCV000464680 RCV003298478

NM_000548.5(TSC2):c.3739A>G (p.Thr1247Ala)

SNV
Germline

Chr16:2081723

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
not specified

Criteria Provided
Conflicting Classifications

CA048226

rs_369961807

5 SubmittersRCV000460265 RCV002365619 RCV004567967 RCV004782384

NM_000548.5(TSC2):c.1882C>T (p.Arg628Cys)

SNV
Germline

Chr16:2071552

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA034358

rs_45437797

7 SubmittersRCV000460911 RCV002256251 RCV004000726 RCV004719823

NM_000548.5(TSC2):c.1933G>A (p.Val645Ile)

SNV
Germline

Chr16:2071603

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA034565

rs_746677177

9 SubmittersRCV000467991 RCV000603190 RCV002411434 RCV003392273 RCV004000694

NM_000548.5(TSC2):c.1946+4C>T

SNV
Germline

Chr16:2071620

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA034937

rs_752017577

4 SubmittersRCV000477517 RCV000563727 RCV006259927

NM_000548.5(TSC2):c.3815-3C>T

SNV
Germline

Chr16:2082433

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA048741

rs_770054036

6 SubmittersRCV000567605 RCV000578750 RCV001088103 RCV006550104

NM_000548.5(TSC2):c.3955G>A (p.Asp1319Asn)

SNV
Germline

Chr16:2083766

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA049735

rs_375883030

7 SubmittersRCV000475183 RCV001021517 RCV001088738 RCV006550101

NM_000548.5(TSC2):c.3993T>A (p.Asp1331Glu)

SNV
Germline

Chr16:2083804

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
not specified
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA049880

rs_776049462

6 SubmittersRCV000460658 RCV000607342 RCV001021602 RCV004000727

NM_000548.5(TSC2):c.2465C>T (p.Ala822Val)

SNV
Germline

Chr16:2074309

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA16614739

rs_936484229

4 SubmittersRCV000475520 RCV000492042 RCV006550105

NM_000548.5(TSC2):c.2534A>G (p.Glu845Gly)

SNV
Germline

Chr16:2074378

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA039405

rs_764608837

7 SubmittersRCV000458545 RCV002257697 RCV002291628 RCV003463868 RCV006550106

NM_000548.5(TSC2):c.2655C>T (p.Ile885=)

SNV
Germline

Chr16:2076083

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA16614743

rs_1060504116

6 SubmittersRCV000461496 RCV001016224 RCV006550184

NM_000548.5(TSC2):c.4192C>G (p.Leu1398Val)

SNV
Germline

Chr16:2084414

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16614748

rs_1060500928

4 SubmittersRCV000459017 RCV000522580 RCV000561438

NM_000548.5(TSC2):c.2742+6C>T

SNV
Germline

Chr16:2076176

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA041460

rs_377568673

6 SubmittersRCV000828764 RCV001084448 RCV004000711

NM_000548.5(TSC2):c.4216G>A (p.Asp1406Asn)

SNV
Germline

Chr16:2084438

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Tuberous sclerosis syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA050657

rs_147719291

10 SubmittersRCV000469951 RCV001543108 RCV001696845 RCV002318520

NM_000548.5(TSC2):c.2926C>T (p.Arg976Trp)

SNV
Germline

Chr16:2077686

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA042810

rs_769527912

6 SubmittersRCV000462321 RCV002311770 RCV004000677

NM_000548.5(TSC2):c.4351C>T (p.Arg1451Cys)

SNV
Germline

Chr16:2084573

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA050953

rs_369553241

6 SubmittersRCV000465620 RCV001022340 RCV001568800 RCV006550114

NM_000548.5(TSC2):c.4408C>T (p.Arg1470Cys)

SNV
Germline

Chr16:2084630

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA051067

rs_767889030

7 SubmittersRCV000458065 RCV001022436 RCV001529238 RCV004000720

NM_000548.5(TSC2):c.3233G>A (p.Arg1078Gln)

SNV
Germline

Chr16:2079377

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA044900

rs_368095502

4 SubmittersRCV000457622 RCV002446790 RCV004801985

NM_000548.5(TSC2):c.4409G>A (p.Arg1470His)

SNV
Germline

Chr16:2084631

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA16614762

rs_1060500969

7 SubmittersRCV000472949 RCV002256249 RCV003237849 RCV004000721

NM_000548.5(TSC2):c.3368G>A (p.Gly1123Glu)

SNV
Germline

Chr16:2079640

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16614770

rs_1060500968

2 SubmittersRCV000465409 RCV002451089

NM_000548.5(TSC2):c.4537G>A (p.Glu1513Lys)

SNV
Germline

Chr16:2084994

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA051548

rs_767449740

3 SubmittersRCV000459338 RCV002339131 RCV004999433

NM_000548.5(TSC2):c.3391A>G (p.Met1131Val)

SNV
Germline

Chr16:2079663

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
TSC2-related disorder
Hereditary cancer-predisposing syndrome
Condition: not provided
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA16614772

rs_775639244

9 SubmittersRCV000473877 RCV000509526 RCV001020177 RCV001584141 RCV003463869 RCV004000718

NM_000548.5(TSC2):c.4569+1G>T

SNV
Germline

Chr16:2085027

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA16614777

rs_1060500972

1 SubmittersRCV000463381

NM_000548.5(TSC2):c.3484C>T (p.Pro1162Ser)

SNV
Germline

Chr16:2080251

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA16614779

rs_895935495

5 SubmittersRCV000470235 RCV001020411 RCV001560998 RCV006550103

NM_000548.5(TSC2):c.3610+4C>T

SNV
Germline

Chr16:2080381

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
not specified
Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA047705

rs_201978396

8 SubmittersRCV000467722 RCV002256247 RCV003317212 RCV005018752 RCV006550088

NM_000548.5(TSC2):c.5010C>T (p.His1670=)

SNV
Germline

Chr16:2087883

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA053480

rs_376306544

9 SubmittersRCV000459079 RCV000569200 RCV001116430 RCV001584178 RCV003987546

NM_000548.5(TSC2):c.4216G>T (p.Asp1406Tyr)

SNV
Germline

Chr16:2084438

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA050670

rs_147719291

10 SubmittersRCV000572627 RCV000593021 RCV001086896 RCV006550094

NM_000548.5(TSC2):c.4414G>A (p.Gly1472Ser)

SNV
Germline

Chr16:2084636

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA051085

rs_558737770

9 SubmittersRCV000574358 RCV000842193 RCV001085474 RCV004000676

NM_000548.5(TSC2):c.4534G>A (p.Asp1512Asn)

SNV
Germline

Chr16:2084991

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA16614792

rs_774441486

8 SubmittersRCV000459439 RCV001022659 RCV001249140 RCV004000680

NM_000548.5(TSC2):c.5221A>G (p.Ile1741Val)

SNV
Germline

Chr16:2088287

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA054501

rs_140526185

7 SubmittersRCV000469868 RCV000497871 RCV002348294 RCV003463866 RCV005010351 RCV006554528

NM_000548.5(TSC2):c.5233C>T (p.Arg1745Cys)

SNV
Germline

Chr16:2088299

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA054522

rs_760413281

6 SubmittersRCV000595657 RCV000768353 RCV001023772 RCV001085143 RCV006550084

NM_000548.5(TSC2):c.5259G>A (p.Arg1753=)

SNV
Germline

Chr16:2088325

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16614799

rs_1060500945

3 SubmittersRCV000458781 RCV004022583 RCV004999436

NM_000548.5(TSC2):c.5262C>G (p.Ile1754Met)

SNV
Germline

Chr16:2088448

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis 2
TSC2-related disorder
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA054841

rs_397515318

11 SubmittersRCV000572414 RCV000589806 RCV001086420 RCV004735537 RCV006550102

NM_000548.5(TSC2):c.5014A>G (p.Ile1672Val)

SNV
Germline

Chr16:2087887

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA053492

rs_374066182

10 SubmittersRCV000466909 RCV001023422 RCV001538711 RCV006550108

NM_000548.5(TSC2):c.5068+8C>T

SNV
Germline

Chr16:2087949

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 2
Lymphangiomyomatosis
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA053737

rs_747827911

4 SubmittersRCV000597668 RCV001085726 RCV003224293

NM_000548.5(TSC2):c.5161A>G (p.Met1721Val)

SNV
Germline

Chr16:2088227

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA054307

rs_45517407

8 SubmittersRCV000658430 RCV001086881 RCV002257695 RCV006550100

NM_000548.5(TSC2):c.193T>C (p.Cys65Arg)

SNV
Germline

Chr16:2050454

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16614896

rs_1060500965

2 SubmittersRCV000459248 RCV002411435

NM_000548.5(TSC2):c.225+4G>A

SNV
Germline

Chr16:2050490

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA037914

rs_201901739

5 SubmittersRCV000473509 RCV002429486 RCV004000708

NM_000548.5(TSC2):c.281C>T (p.Pro94Leu)

SNV
Germline

Chr16:2053397

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
TSC2-related disorder
Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA042049

rs_200045926

6 SubmittersRCV000471856 RCV001797088 RCV002436401 RCV004000706 RCV004533162 RCV005018756

NM_000548.5(TSC2):c.421G>T (p.Glu141Ter)

SNV
Germline

Chr16:2054380

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA16614902

rs_1060500924

1 SubmittersRCV000458135

NM_000548.5(TSC2):c.1258-5G>T

SNV
Germline

Chr16:2062492

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
not specified
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA16614911

rs_925954967

9 SubmittersRCV000460314 RCV000502223 RCV001536183 RCV002257738 RCV004002071

NM_000548.5(TSC2):c.1721A>G (p.Lys574Arg)

SNV
Germline

Chr16:2070460

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16614928

rs_1060500926

5 SubmittersRCV000473481 RCV000561401 RCV003332174

NM_000548.5(TSC2):c.1783C>G (p.Gln595Glu)

SNV
Germline

Chr16:2070522

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16614929

rs_45517199

3 SubmittersRCV000469059 RCV002402241 RCV004999435

NM_000548.5(TSC2):c.1946+5G>A

SNV
Germline

Chr16:2071621

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA034947

rs_766646261

5 SubmittersRCV000463588 RCV001577174 RCV002411433 RCV004000690

NM_000548.5(TSC2):c.2152C>T (p.Arg718Cys)

SNV
Germline

Chr16:2072295

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Ovarian cancer
Condition: not provided

Criteria Provided
Conflicting Classifications

CA036889

rs_182538665

5 SubmittersRCV000460097 RCV002256248 RCV003153598 RCV003320645

NM_000548.5(TSC2):c.2332A>G (p.Asn778Asp)

SNV
Germline

Chr16:2072960

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16614946

rs_1060500946

4 SubmittersRCV000456379 RCV000566345

NM_000548.5(TSC2):c.2837+4C>T

SNV
Germline

Chr16:2076589

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA042228

rs_544409858

6 SubmittersRCV000568105 RCV000831366 RCV001088779 RCV006550115

NM_000548.5(TSC2):c.3132-1G>T

SNV
Germline

Chr16:2079275

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA16614971

rs_45443096

1 SubmittersRCV000461214

NM_000548.5(TSC2):c.3181C>T (p.Leu1061=)

SNV
Germline

Chr16:2079325

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16614972

rs_946673791

5 SubmittersRCV000477369 RCV003168764 RCV006550095 RCV006259929

NM_000548.5(TSC2):c.3232C>T (p.Arg1078Trp)

SNV
Germline

Chr16:2079376

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA044888

rs_78956195

3 SubmittersRCV000469143 RCV000574231

NM_000548.5(TSC2):c.3270C>T (p.Ser1090=)

SNV
Germline

Chr16:2079414

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis 2
Tuberous sclerosis syndrome
TSC2-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA045064

rs_754951889

11 SubmittersRCV000568480 RCV000729893 RCV001080374 RCV004002105 RCV004539994 RCV006260016

NM_000548.5(TSC2):c.3295G>A (p.Gly1099Arg)

SNV
Germline

Chr16:2079567

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA045612

rs_776855601

8 SubmittersRCV000461466 RCV001019752 RCV001731687 RCV004808720 RCV006550091

NM_000548.5(TSC2):c.3329C>G (p.Ala1110Gly)

SNV
Germline

Chr16:2079601

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA16614990

rs_1060500923

5 SubmittersRCV000461553 RCV001019998 RCV004721366 RCV004805023

NM_000548.5(TSC2):c.3676A>G (p.Met1226Val)

SNV
Germline

Chr16:2081660

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA048041

rs_769283410

2 SubmittersRCV000473267 RCV004948312

NM_000548.5(TSC2):c.3730C>T (p.His1244Tyr)

SNV
Germline

Chr16:2081714

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16615000

rs_993614997

6 SubmittersRCV000459726 RCV001020994 RCV002480363 RCV003114581

NM_000548.5(TSC2):c.3733C>A (p.Arg1245=)

SNV
Germline

Chr16:2081717

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA16615005

rs_777489742

9 SubmittersRCV000477628 RCV000561517 RCV001584180 RCV002489102 RCV006550172

NM_000548.5(TSC2):c.4001G>A (p.Ser1334Asn)

SNV
Germline

Chr16:2083812

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA16615016

rs_1060500964

3 SubmittersRCV000473934 RCV002323695 RCV005018759

NM_000548.5(TSC2):c.4086C>T (p.Val1362=)

SNV
Germline

Chr16:2084308

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome
TSC2-related disorder

Criteria Provided
Conflicting Classifications

CA050396

rs_763847509

7 SubmittersRCV000467793 RCV001021835 RCV000768124 RCV004002081 RCV004539990

NM_000548.5(TSC2):c.4087G>A (p.Val1363Ile)

SNV
Germline

Chr16:2084309

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA050403

rs_751203255

8 SubmittersRCV000713932 RCV001086293 RCV002257693 RCV006550086

NM_000548.5(TSC2):c.4201C>G (p.Pro1401Ala)

SNV
Germline

Chr16:2084423

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA050641

rs_778147657

5 SubmittersRCV000465567 RCV002329033 RCV003128805 RCV004000715

NM_000548.5(TSC2):c.694C>T (p.Pro232Ser)

SNV
Germline

Chr16:2056689

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA056156

rs_751846529

3 SubmittersRCV000458732 RCV002365618 RCV006259930

NM_000548.5(TSC2):c.4420A>G (p.Arg1474Gly)

SNV
Germline

Chr16:2084642

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA051088

rs_766719443

3 SubmittersRCV000462201 RCV004000704 RCV004678710

NM_000548.5(TSC2):c.4435G>A (p.Ala1479Thr)

SNV
Germline

Chr16:2084657

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
not specified
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16615031

rs_777529733

6 SubmittersRCV000458532 RCV000500804 RCV001022474 RCV004000678 RCV004777668

NM_000548.5(TSC2):c.4457C>T (p.Ala1486Val)

SNV
Germline

Chr16:2084679

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
not specified
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA051222

rs_773527337

7 SubmittersRCV000470481 RCV000517116 RCV000562149 RCV004000719 RCV005018760

NM_000548.5(TSC2):c.4612C>T (p.Pro1538Ser)

SNV
Germline

Chr16:2085272

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA16615034

rs_1060500930

4 SubmittersRCV000470575 RCV002311771 RCV003463865

NM_000548.5(TSC2):c.1036A>G (p.Ile346Val)

SNV
Germline

Chr16:2060730

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA16615037

rs_768760795

3 SubmittersRCV000462431 RCV002393093 RCV006550096

NM_000548.5(TSC2):c.4973A>G (p.Lys1658Arg)

SNV
Germline

Chr16:2086855

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA16615040

rs_1050594534

4 SubmittersRCV000469448 RCV001023350 RCV005401444

NM_000548.5(TSC2):c.1601T>G (p.Val534Gly)

SNV
Germline

Chr16:2065520

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16615042

rs_924098595

6 SubmittersRCV000460751 RCV000571306 RCV003470408 RCV004000693 RCV004999434

NM_000548.5(TSC2):c.5238C>T (p.His1746=)

SNV
Germline

Chr16:2088304

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16615045

rs_1060504084

4 SubmittersRCV000476609 RCV002291642 RCV002341077

NM_000548.5(TSC2):c.5251C>T (p.Arg1751Cys)

SNV
Germline

Chr16:2088317

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
TSC2-related disorder

Criteria Provided
Conflicting Classifications

CA054573

rs_781630603

8 SubmittersRCV000497304 RCV001087863 RCV001023801 RCV004000709 RCV004533164

NM_000548.5(TSC2):c.1627C>T (p.Pro543Ser)

SNV
Germline

Chr16:2065546

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA16615046

rs_1060500944

7 SubmittersRCV000477560 RCV002255385 RCV004000705

NM_000548.5(TSC2):c.5269G>A (p.Glu1757Lys)

SNV
Germline

Chr16:2088455

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA16615048

rs_1060500957

6 SubmittersRCV000457700 RCV001023824 RCV003463867 RCV004000717

NM_000548.5(TSC2):c.1718C>T (p.Thr573Ile)

SNV
Germline

Chr16:2070457

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA033135

rs_773304374

8 SubmittersRCV000461958 RCV001012861 RCV001731688 RCV004000700 RCV005018755

NM_000548.5(TSC2):c.1753C>T (p.Arg585Cys)

SNV
Germline

Chr16:2070492

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA033336

rs_370324876

6 SubmittersRCV000469836 RCV001013015 RCV002274032 RCV004000695

NM_000548.5(TSC2):c.5416T>C (p.Phe1806Leu)

SNV
Germline

Chr16:2088602

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16615055

rs_1060500910

3 SubmittersRCV000467233 RCV002348290

NM_000548.5(TSC2):c.1903G>A (p.Asp635Asn)

SNV
Germline

Chr16:2071573

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA16615059

rs_1060500932

4 SubmittersRCV000473625 RCV000570501 RCV004805024

NM_000548.5(TSC2):c.1946+5G>T

SNV
Germline

Chr16:2071621

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA16615060

rs_766646261

5 SubmittersRCV000475200 RCV000564701 RCV004805025

NM_000548.5(TSC2):c.1969A>C (p.Lys657Gln)

SNV
Germline

Chr16:2071806

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Condition: not provided

Criteria Provided
Conflicting Classifications

CA035326

rs_45488199

7 SubmittersRCV000463315 RCV001013872 RCV004000685 RCV005018753 RCV006259928

NM_000548.5(TSC2):c.2015C>T (p.Pro672Leu)

SNV
Germline

Chr16:2071852

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA16615063

rs_768864353

6 SubmittersRCV000457153 RCV000568724 RCV000765267 RCV006259931 RCV006550097

NM_000548.5(TSC2):c.2290C>A (p.Leu764Met)

SNV
Germline

Chr16:2072918

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA16615073

rs_777614710

6 SubmittersRCV000464898 RCV001764381 RCV002446788 RCV004000701

NM_000548.5(TSC2):c.2364G>A (p.Met788Ile)

SNV
Germline

Chr16:2074208

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA038757

rs_773786955

4 SubmittersRCV000456253 RCV002451090 RCV004000723

NM_000548.5(TSC2):c.3038A>G (p.Asp1013Gly)

SNV
Germline

Chr16:2079103

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16615087

rs_1060500961

4 SubmittersRCV000475335 RCV000761103 RCV002436402

NM_000548.5(TSC2):c.3202A>C (p.Thr1068Pro)

SNV
Germline

Chr16:2079346

Likely pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA16615089

rs_1060500947

1 SubmittersRCV000467462

NM_000548.5(TSC2):c.3212C>T (p.Thr1071Ile)

SNV
Germline

Chr16:2079356

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16615090

rs_45498892

5 SubmittersRCV000465303 RCV000513743 RCV000574600

NM_000548.5(TSC2):c.3268T>C (p.Ser1090Pro)

SNV
Germline

Chr16:2079412

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA16615094

rs_1060500936

5 SubmittersRCV000464604 RCV001019532 RCV001796059 RCV004000696

NM_000548.5(TSC2):c.3282G>A (p.Ser1094=)

SNV
Germline

Chr16:2079426

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA16615095

rs_1060504095

6 SubmittersRCV000472662 RCV001019645 RCV003992301 RCV005239043

NM_000548.5(TSC2):c.3284+6T>G

SNV
Germline

Chr16:2079434

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Lymphangiomyomatosis
Tuberous sclerosis syndrome
Gastric cancer

Criteria Provided
Conflicting Classifications

CA045321

rs_375837026

6 SubmittersRCV000474128 RCV001199080 RCV004000724 RCV005899441

NM_000548.5(TSC2):c.3318G>A (p.Lys1106=)

SNV
Germline

Chr16:2079590

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
not specified

Criteria Provided
Conflicting Classifications

CA16615112

rs_1060504119

8 SubmittersRCV000477452 RCV001569275 RCV002451162 RCV004002101 RCV005407133

NM_000548.5(TSC2):c.3385C>T (p.Arg1129Cys)

SNV
Germline

Chr16:2079657

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
TSC2-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA16615117

rs_1028039505

6 SubmittersRCV000458982 RCV002451088 RCV004000702 RCV004529590 RCV005056015

NM_000548.5(TSC2):c.3551C>A (p.Ala1184Glu)

SNV
Germline

Chr16:2080318

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16615137

rs_1060500939

2 SubmittersRCV000463034 RCV002339132

NM_000548.5(TSC2):c.3584C>T (p.Ala1195Val)

SNV
Germline

Chr16:2080351

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA047499

rs_773951533

6 SubmittersRCV000461845 RCV000570432 RCV001662421 RCV004000712

NM_000548.5(TSC2):c.3855A>G (p.Gly1285=)

SNV
Germline

Chr16:2082476

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA16615146

rs_891262541

7 SubmittersRCV000459409 RCV001517670 RCV002356730 RCV002496803 RCV004002070

NM_000548.5(TSC2):c.4006-6T>C

SNV
Germline

Chr16:2084222

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA16615149

rs_1060500953

6 SubmittersRCV000465986 RCV001200214 RCV004000710

NM_000548.5(TSC2):c.4219G>A (p.Val1407Met)

SNV
Germline

Chr16:2084441

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA050677

rs_45517332

5 SubmittersRCV000456699 RCV000571397 RCV004000697

NM_000548.5(TSC2):c.4461C>T (p.Ser1487=)

SNV
Germline

Chr16:2084683

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA051255

rs_777104003

6 SubmittersRCV000469741 RCV002257736 RCV004002053

NM_000548.5(TSC2):c.4590G>A (p.Ser1530=)

SNV
Germline

Chr16:2085250

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
not specified
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA051881

rs_377377367

8 SubmittersRCV000465040 RCV000603629 RCV001022750 RCV001119332

NM_000548.5(TSC2):c.4671C>T (p.Ser1557=)

SNV
Germline

Chr16:2086201

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
TSC2-related disorder

Criteria Provided
Conflicting Classifications

CA052261

rs_151140709

11 SubmittersRCV000474206 RCV000561512 RCV000615621 RCV001119333 RCV004533163

NM_000548.5(TSC2):c.4849+4C>A

SNV
Germline

Chr16:2086383

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16615176

rs_370426490

3 SubmittersRCV000465782 RCV006287187

NM_000548.5(TSC2):c.5137C>T (p.Arg1713Cys)

SNV
Germline

Chr16:2088116

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA054033

rs_759420443

4 SubmittersRCV000466636 RCV002348293 RCV005010350

NM_000548.5(TSC2):c.5210C>T (p.Pro1737Leu)

SNV
Germline

Chr16:2088276

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA054450

rs_749326176

9 SubmittersRCV000473435 RCV001023737 RCV001546269 RCV005018757 RCV006550098

NM_000548.5(TSC2):c.5288C>G (p.Pro1763Arg)

SNV
Germline

Chr16:2088474

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16615206

rs_781139561

3 SubmittersRCV000466239 RCV002348291 RCV006263956

NM_000548.5(TSC2):c.5339C>T (p.Thr1780Ile)

SNV
Germline

Chr16:2088525

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA055164

rs_778395191

7 SubmittersRCV000471005 RCV000562164 RCV000610568 RCV003392272 RCV004000682

NM_000548.5(TSC2):c.5374C>A (p.Gln1792Lys)

SNV
Germline

Chr16:2088560

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16615208

rs_201916931

3 SubmittersRCV000457471 RCV001023993

NM_000548.5(TSC2):c.5403G>T (p.Glu1801Asp)

SNV
Germline

Chr16:2088589

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16615209

rs_1060500918

3 SubmittersRCV000465811 RCV002348292 RCV005056014

NM_000368.5(TSC1):c.64C>T (p.Arg22Trp)

SNV
Germline/somatic

Chr9:132928809

Conflicting classifications of pathogenicity

Isolated focal cortical dysplasia type II
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA038317

rs_749030456

8 SubmittersRCV000477710 RCV000573120 RCV000695216 RCV001721544 RCV001526808

NM_000368.5(TSC1):c.2208+2T>A

SNV
Germline

Chr9:132903649

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II

Criteria Provided
Multiple Submitters
No Conflicts

CA16618767

rs_1064794132

6 SubmittersRCV000487211 RCV000565398 RCV000781918 RCV001333394 RCV004568170

NM_000368.5(TSC1):c.1139C>G (p.Thr380Ser)

SNV
Germline

Chr9:132911004

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA16618776

rs_1064796512

6 SubmittersRCV000478581 RCV000684873 RCV002323841 RCV004568210 RCV004802075

NM_000368.5(TSC1):c.107-1G>A

SNV
Germline

Chr9:132927305

Pathogenic/Likely pathogenic

Condition: not provided
Tuberous sclerosis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16618780

rs_1064793494

5 SubmittersRCV000482412 RCV001797732

NM_000548.5(TSC2):c.328C>T (p.Gln110Ter)

SNV
Germline

Chr16:2053444

Pathogenic

Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16620085

rs_1064796511

3 SubmittersRCV000478118 RCV003338609 RCV002323840

NM_000548.5(TSC2):c.1481C>T (p.Ser494Phe)

SNV
Germline

Chr16:2064309

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA030798

rs_751984707

6 SubmittersRCV000478401 RCV000691424 RCV003343855 RCV003470587 RCV006550229

NM_000548.5(TSC2):c.1593C>G (p.Ile531Met)

SNV
Germline

Chr16:2064421

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA16620088

rs_45517180

5 SubmittersRCV001359632 RCV001704636 RCV002402406 RCV006550223

NM_000548.5(TSC2):c.2221-1G>A

SNV
Germline

Chr16:2072848

Pathogenic

Condition: not provided
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA16620092

rs_45517218

4 SubmittersRCV000482093 RCV001797734

NM_000548.5(TSC2):c.2656G>C (p.Val886Leu)

SNV
Germline

Chr16:2076084

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA16620093

rs_999523698

6 SubmittersRCV000487076 RCV001037910 RCV002455934 RCV006550226

NM_000548.5(TSC2):c.2932C>T (p.Arg978Cys)

SNV
Germline

Chr16:2077692

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA042875

rs_768241596

4 SubmittersRCV000480699 RCV000575219 RCV001087822

NM_000548.5(TSC2):c.4936G>A (p.Val1646Met)

SNV
Germline

Chr16:2086818

Pathogenic/Likely pathogenic

Condition: not provided
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA16620103

rs_1064796970

4 SubmittersRCV000480140 RCV000555170

NM_000368.5(TSC1):c.2162G>A (p.Arg721His)

SNV
Germline

Chr9:132903697

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA031606

rs_769566267

6 SubmittersRCV000488377 RCV001089212 RCV002431423 RCV004003419

NM_000548.5(TSC2):c.4006-1G>A

SNV
Germline

Chr16:2084227

Pathogenic

Condition: not provided
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA394299109

rs_1085307853

2 SubmittersRCV000490195 RCV002289659

NM_000368.5(TSC1):c.2933T>G (p.Leu978Arg)

SNV
Germline

Chr9:132897226

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1

Criteria Provided
Conflicting Classifications

CA035096

rs_770834438

2 SubmittersRCV000491384 RCV001856934

NM_000368.5(TSC1):c.2530C>T (p.Gln844Ter)

SNV
Germline

Chr9:132900810

Pathogenic

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA375370252

rs_1114167619

2 SubmittersRCV000491561 RCV005091015

NM_000548.5(TSC2):c.1294C>T (p.Gln432Ter)

SNV
Germline

Chr16:2062533

Pathogenic

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided
Lymphangiomyomatosis
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II

Criteria Provided
Multiple Submitters
No Conflicts

CA394322093

rs_1114167462

5 SubmittersRCV000491025 RCV003626623 RCV004721391 RCV005018825

NM_000548.5(TSC2):c.2958G>A (p.Val986=)

SNV
Germline

Chr16:2077718

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA492954984

rs_1114167464

3 SubmittersRCV000492037 RCV001856927 RCV004800426

NM_000548.5(TSC2):c.3209C>T (p.Thr1070Met)

SNV
Germline

Chr16:2079353

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA044749

rs_147989574

8 SubmittersRCV000491778 RCV000542621 RCV001577170 RCV004003437

NM_000548.5(TSC2):c.4324G>T (p.Glu1442Ter)

SNV
Germline

Chr16:2084546

Pathogenic

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA394301349

rs_45469392

2 SubmittersRCV000491994 RCV003512050

NM_000548.5(TSC2):c.5161-2A>G

SNV
Germline

Chr16:2088225

Pathogenic

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA394313791

rs_1114167468

2 SubmittersRCV000491033 RCV002526065

NM_000548.5(TSC2):c.358A>T (p.Arg120Ter)

SNV
Germline

Chr16:2054317

Pathogenic

Condition: not provided
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA394306592

rs_1131691602

3 SubmittersRCV000494472 RCV000689112

NM_000548.5(TSC2):c.500G>A (p.Trp167Ter)

SNV
Germline

Chr16:2055420

Pathogenic

Tuberous sclerosis 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA394309138

rs_1131691794

3 SubmittersRCV001050966 RCV000493895

NM_000548.5(TSC2):c.1093A>G (p.Ile365Val)

SNV
Germline

Chr16:2060787

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA028137

rs_370403197

5 SubmittersRCV000493232 RCV001064683 RCV002431439 RCV004003479

NM_000548.5(TSC2):c.2545+5G>C

SNV
Germline

Chr16:2074394

Likely pathogenic

Condition: not provided
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA645369636

rs_1131691965

2 SubmittersRCV000493694 RCV000763366

NM_000548.5(TSC2):c.4067G>T (p.Gly1356Val)

SNV
Germline

Chr16:2084289

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394299390

rs_747104864

6 SubmittersRCV000497895 RCV000702009 RCV001021794 RCV004003505

NM_000548.5(TSC2):c.4520C>T (p.Ser1507Phe)

SNV
Germline

Chr16:2084977

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394302786

rs_746246149

5 SubmittersRCV000497607 RCV001022632 RCV001078813 RCV006550256

NM_000548.5(TSC2):c.1119+1G>C

SNV
Unknown

Chr16:2060814

Pathogenic

Tuberous sclerosis 2

No Assertion Criteria Provided

CA394318489

rs_45475793

1 SubmittersRCV000512714

NM_000548.5(TSC2):c.3397+15C>T

SNV
Germline

Chr16:2079684

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA046526

rs_202246408

5 SubmittersRCV000514483 RCV000599832 RCV001117665 RCV002060187

NM_000368.5(TSC1):c.1264-1G>A

SNV
Germline

Chr9:132907371

Pathogenic/Likely pathogenic

Condition: not provided
Tuberous sclerosis 1
Malignant tumor of urinary bladder

Criteria Provided
Multiple Submitters
No Conflicts

CA375366235

rs_1554816432

4 SubmittersRCV000516494 RCV001851470 RCV005901162

NM_000368.5(TSC1):c.340C>T (p.Pro114Ser)

SNV
Germline

Chr9:132925610

Conflicting classifications of pathogenicity

not specified
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
TSC1-related disorder
Tuberous sclerosis 1
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA036801

rs_779395169

7 SubmittersRCV000517515 RCV000537301 RCV001020229 RCV004745434 RCV005044771

NM_000548.5(TSC2):c.1946+1G>A

SNV
Germline

Chr16:2071617

Pathogenic

Condition: not provided
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA394273426

rs_397514994

3 SubmittersRCV000518649 RCV001194693

NM_000548.5(TSC2):c.3974G>A (p.Gly1325Asp)

SNV
Germline

Chr16:2083785

Conflicting classifications of pathogenicity

not specified
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA049827

rs_754680848

4 SubmittersRCV000516748 RCV001857933 RCV005502819

NM_000548.5(TSC2):c.4569+1G>A

SNV
Germline

Chr16:2085027

Pathogenic/Likely pathogenic

Condition: not provided
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II

Criteria Provided
Multiple Submitters
No Conflicts

CA394303133

rs_1060500972

5 SubmittersRCV000516864 RCV001036453 RCV004568661

NM_000548.5(TSC2):c.4990-1G>A

SNV
Germline

Chr16:2087862

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394310850

rs_1555439650

5 SubmittersRCV000516408 RCV001851471 RCV004948376

NM_000548.5(TSC2):c.5291G>A (p.Ser1764Asn)

SNV
Germline

Chr16:2088477

Conflicting classifications of pathogenicity

not specified
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA276759923

rs_138831802

8 SubmittersRCV000516657 RCV000529988 RCV001023876 RCV001572599 RCV004003590

NM_000368.5(TSC1):c.1063A>G (p.Met355Val)

SNV
Germline

Chr9:132911080

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA375367734

rs_1302832406

5 SubmittersRCV001009796 RCV000795024 RCV001722439 RCV004003595

NM_000368.5(TSC1):c.492G>A (p.Trp164Ter)

SNV
Germline

Chr9:132923364

Pathogenic

Condition: not provided
Tuberous sclerosis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA375373170

rs_1554819870

3 SubmittersRCV000523245 RCV000988280

NM_000368.5(TSC1):c.23G>C (p.Gly8Ala)

SNV
Germline

Chr9:132928850

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA375375427

rs_1269896419

5 SubmittersRCV000520247 RCV000694959 RCV002257779

NM_000548.5(TSC2):c.648+6T>C

SNV
Germline

Chr16:2056250

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 2
TSC2-related disorder
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA055922

rs_372007135

5 SubmittersRCV000523471 RCV001086111 RCV004537884 RCV006550295

NM_000548.5(TSC2):c.1112A>G (p.Gln371Arg)

SNV
Germline

Chr16:2060806

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA394318377

rs_1555500581

3 SubmittersRCV000523784 RCV002438264 RCV003512053

NM_000548.5(TSC2):c.2966+15G>A

SNV
Germline

Chr16:2077741

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 2
Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Cervical cancer

Criteria Provided
Conflicting Classifications

CA620377275

rs_779884344

4 SubmittersRCV000519806 RCV002060284 RCV005018898 RCV005901208

NM_000548.5(TSC2):c.3365G>C (p.Arg1122Pro)

SNV
Germline

Chr16:2079637

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA276746167

rs_369536711

6 SubmittersRCV000528710 RCV000523797 RCV001020103 RCV006550286

NM_000548.5(TSC2):c.3485C>T (p.Pro1162Leu)

SNV
Germline

Chr16:2080252

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA047132

rs_778069675

6 SubmittersRCV000520176 RCV001020414 RCV001085805 RCV004003619

NM_000548.5(TSC2):c.3799C>T (p.Pro1267Ser)

SNV
Germline

Chr16:2081783

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA048474

rs_757010959

5 SubmittersRCV000521160 RCV000644179 RCV004023617 RCV006550293

NM_000548.5(TSC2):c.5068+2T>C

SNV
Germline

Chr16:2087943

Pathogenic/Likely pathogenic

Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA394311751

rs_397515152

5 SubmittersRCV000521796 RCV000704780 RCV002350148

NM_000548.5(TSC2):c.5363A>G (p.Tyr1788Cys)

SNV
Germline

Chr16:2088549

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA055219

rs_397515221

5 SubmittersRCV001023976 RCV001204908 RCV001696827 RCV005401477

NM_000548.5(TSC2):c.5396C>T (p.Ser1799Leu)

SNV
Germline

Chr16:2088582

Conflicting classifications of pathogenicity

not specified
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
TSC2-related disorder
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA055299

rs_778484981

7 SubmittersRCV000522751 RCV000644277 RCV001024028 RCV004541631 RCV004003612

NM_000368.5(TSC1):c.3350T>C (p.Leu1117Pro)

SNV
Germline

Chr9:132896380

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
TSC1-related disorder
Tuberous sclerosis syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA036590

rs_762641110

6 SubmittersRCV000530823 RCV001020060 RCV004745460 RCV006550372 RCV004760572

NM_000368.5(TSC1):c.3301G>A (p.Glu1101Lys)

SNV
Germline

Chr9:132896429

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA375366674

rs_1554812661

3 SubmittersRCV000530044 RCV002456132 RCV004802157

NM_000368.5(TSC1):c.3164G>T (p.Arg1055Met)

SNV
Germline

Chr9:132896566

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA375367179

rs_1167652701

3 SubmittersRCV000558171 RCV002258953

NM_000368.5(TSC1):c.2930A>G (p.Lys977Arg)

SNV
Germline

Chr9:132897229

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Lymphangiomyomatosis
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA375368448

rs_1433723046

6 SubmittersRCV000534632 RCV002438382 RCV003329299 RCV005044815 RCV003999212

NM_000368.5(TSC1):c.2503-3T>C

SNV
Germline

Chr9:132900840

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Tuberous sclerosis 1

Criteria Provided
Conflicting Classifications

CA591056821

rs_1355806067

5 SubmittersRCV000552922 RCV005298523 RCV004802153 RCV005044813

NM_000368.5(TSC1):c.2111A>G (p.Tyr704Cys)

SNV
Germline

Chr9:132903748

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
TSC1-related disorder

Criteria Provided
Conflicting Classifications

CA031442

rs_752054698

7 SubmittersRCV000595767 RCV001079196 RCV002420444 RCV004802151 RCV004745457

NM_000368.5(TSC1):c.2050C>T (p.Pro684Ser)

SNV
Germline

Chr9:132903809

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA031030

rs_746909024

2 SubmittersRCV000535456 RCV002420442

NM_000368.5(TSC1):c.1949A>G (p.Asp650Gly)

SNV
Germline

Chr9:132905629

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA200888178

rs_939275328

4 SubmittersRCV000552146 RCV002413536 RCV003235281 RCV003999200

NM_000368.5(TSC1):c.1916G>A (p.Gly639Asp)

SNV
Germline

Chr9:132905662

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA030082

rs_372583166

6 SubmittersRCV000538760 RCV000563536 RCV005049600 RCV006260182

NM_000368.5(TSC1):c.1772C>A (p.Pro591Gln)

SNV
Germline

Chr9:132905806

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA029707

rs_768985094

4 SubmittersRCV000535112 RCV000567125 RCV006550359

NM_000368.5(TSC1):c.1219G>A (p.Val407Met)

SNV
Germline

Chr9:132910615

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 1
not specified
Hereditary cancer-predisposing syndrome
Ovarian cancer
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA027322

rs_769331772

7 SubmittersRCV000840913 RCV001083325 RCV001821551 RCV002316553 RCV003153710 RCV006550355

NM_000368.5(TSC1):c.848C>T (p.Ala283Val)

SNV
Germline

Chr9:132912347

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA375369249

rs_1554817613

2 SubmittersRCV000525964 RCV003153711

NM_000368.5(TSC1):c.556G>A (p.Ala186Thr)

SNV
Germline

Chr9:132921926

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA375372741

rs_1279777367

6 SubmittersRCV000558926 RCV000566027 RCV003476286 RCV004802158

NM_000368.5(TSC1):c.524T>C (p.Val175Ala)

SNV
Germline

Chr9:132921958

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA375372890

rs_1415895533

5 SubmittersRCV000546386 RCV001023799 RCV006550374

NM_000368.5(TSC1):c.65G>A (p.Arg22Gln)

SNV
Germline

Chr9:132928808

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA038390

rs_141736779

3 SubmittersRCV000542889 RCV002377089

NM_000368.5(TSC1):c.3185G>A (p.Arg1062Gln)

SNV
Germline

Chr9:132896545

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA036127

rs_755396992

5 SubmittersRCV000527076 RCV000562217 RCV003999219

NM_000368.5(TSC1):c.3079C>T (p.Arg1027Trp)

SNV
Germline

Chr9:132896651

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
not specified
Lymphangiomyomatosis
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA035767

rs_375394001

7 SubmittersRCV000532264 RCV001018500 RCV001821552 RCV005044818 RCV006550369

NM_000368.5(TSC1):c.3008C>T (p.Ser1003Phe)

SNV
Germline

Chr9:132896722

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA375367938

rs_1554812991

4 SubmittersRCV000548959 RCV002438384 RCV003999214

NM_000368.5(TSC1):c.3293A>G (p.Asn1098Ser)

SNV
Germline

Chr9:132896437

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA375366696

rs_1554812687

4 SubmittersRCV000553886 RCV001019746 RCV001755840

NM_000368.5(TSC1):c.2986T>G (p.Cys996Gly)

SNV
Germline

Chr9:132896744

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA375368037

rs_1554813029

4 SubmittersRCV000536602 RCV002438383 RCV003459235 RCV003999213

NM_000368.5(TSC1):c.3068C>T (p.Pro1023Leu)

SNV
Germline

Chr9:132896662

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA375367614

rs_1554812917

3 SubmittersRCV000531464 RCV003352915

NM_000368.5(TSC1):c.3023A>G (p.Asn1008Ser)

SNV
Germline

Chr9:132896707

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA375367854

rs_1263094349

5 SubmittersRCV000525091 RCV002316554 RCV003476284 RCV003999215

NM_000368.5(TSC1):c.2896T>C (p.Tyr966His)

SNV
Germline

Chr9:132897263

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
not specified
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
TSC1-related disorder
Condition: not provided
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis

Criteria Provided
Conflicting Classifications

CA034926

rs_767946427

11 SubmittersRCV000558701 RCV000608003 RCV001016839 RCV003999211 RCV004745459 RCV005000168 RCV005044814

NM_000368.5(TSC1):c.2281T>C (p.Tyr761His)

SNV
Germline

Chr9:132902715

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA032032

rs_776386313

6 SubmittersRCV000988275 RCV000567937 RCV004802152 RCV006260184

NM_000368.5(TSC1):c.2030C>T (p.Thr677Ile)

SNV
Germline

Chr9:132904422

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA030690

rs_779584449

6 SubmittersRCV000534575 RCV001576295 RCV002256367

NM_000368.5(TSC1):c.2027G>A (p.Trp676Ter)

SNV
Germline

Chr9:132904425

Pathogenic

Tuberous sclerosis 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA375361284

rs_1554815454

4 SubmittersRCV000558526 RCV005414508

NM_000368.5(TSC1):c.1975G>A (p.Ala659Thr)

SNV
Germline

Chr9:132905603

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
TSC1-related disorder
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA200888114

rs_914628341

7 SubmittersRCV000545216 RCV001013813 RCV003419955 RCV003999201

NM_000368.5(TSC1):c.1871C>T (p.Thr624Ile)

SNV
Germline

Chr9:132905707

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA029981

rs_754401816

5 SubmittersRCV000536952 RCV001013415 RCV003159132 RCV003999197

NM_000368.5(TSC1):c.1800G>C (p.Gln600His)

SNV
Germline

Chr9:132905778

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA375363430

rs_1254353359

6 SubmittersRCV000536003 RCV001561371 RCV002413534 RCV003476283 RCV003999196

NM_000368.5(TSC1):c.2038G>A (p.Gly680Arg)

SNV
Germline

Chr9:132904414

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA030742

rs_757322533

4 SubmittersRCV000527544 RCV002420441 RCV006277879 RCV006550362

NM_000368.5(TSC1):c.1779A>G (p.Arg593=)

SNV
Germline

Chr9:132905799

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
not specified
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA200888395

rs_964191879

6 SubmittersRCV000543019 RCV000612611 RCV001013147 RCV003999195

NM_000368.5(TSC1):c.1997A>G (p.Lys666Arg)

SNV
Germline

Chr9:132905581

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
TSC1-related disorder
Tuberous sclerosis syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA375362211

rs_1419720341

7 SubmittersRCV000546131 RCV001014009 RCV003900178 RCV003999202 RCV006260183

NM_000368.5(TSC1):c.1315C>G (p.Leu439Val)

SNV
Germline

Chr9:132907319

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA028025

rs_199800297

8 SubmittersRCV000560409 RCV000573643 RCV001574705 RCV003999188

NM_000368.5(TSC1):c.1328G>T (p.Gly443Val)

SNV
Germline

Chr9:132907306

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Lymphangiomyomatosis
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA375366083

rs_1489175329

8 SubmittersRCV000534300 RCV001195754 RCV001545105 RCV002257807 RCV003999189

NM_000368.5(TSC1):c.1298A>G (p.His433Arg)

SNV
Germline

Chr9:132907336

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA375366153

rs_1554816403

3 SubmittersRCV000546518 RCV002384146 RCV003227784

NM_000368.5(TSC1):c.418C>G (p.Leu140Val)

SNV
Germline

Chr9:132923438

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA375373523

rs_1554819915

3 SubmittersRCV000539889 RCV002330886 RCV002461304

NM_000368.5(TSC1):c.348A>T (p.Leu116Phe)

SNV
Germline

Chr9:132925602

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
TSC1-related disorder

Criteria Provided
Conflicting Classifications

CA037162

rs_755799702

8 SubmittersRCV000550669 RCV000570579 RCV001584282 RCV003999225 RCV004745461

NM_000368.5(TSC1):c.168G>A (p.Pro56=)

SNV
Germline

Chr9:132927243

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA029422

rs_781483110

7 SubmittersRCV000529635 RCV001167929 RCV002257808 RCV003999194

NM_000368.5(TSC1):c.166C>T (p.Pro56Ser)

SNV
Germline

Chr9:132927245

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Lymphangiomyomatosis
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA375375112

rs_1330089369

5 SubmittersRCV000558142 RCV002404457 RCV003999193 RCV005044812

NM_000368.5(TSC1):c.503A>C (p.Lys168Thr)

SNV
Germline

Chr9:132923353

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome
Lymphangiomyomatosis
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
not specified

Criteria Provided
Conflicting Classifications

CA200901566

rs_1007335343

10 SubmittersRCV000529494 RCV001023453 RCV001653899 RCV003476285 RCV003999228 RCV005044820 RCV005407716

NM_000368.5(TSC1):c.3356C>T (p.Thr1119Ile)

SNV
Germline

Chr9:132896374

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA036612

rs_775420987

6 SubmittersRCV000543231 RCV001731763 RCV002323976 RCV003999223

NM_000368.5(TSC1):c.3200T>G (p.Met1067Arg)

SNV
Germline

Chr9:132896530

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA375367039

rs_1167362899

4 SubmittersRCV000547456 RCV001019199 RCV003999220

NM_000368.5(TSC1):c.3172C>A (p.Pro1058Thr)

SNV
Germline

Chr9:132896558

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA375367153

rs_112066743

7 SubmittersRCV000551227 RCV001578209 RCV002256369 RCV003999218

NM_000368.5(TSC1):c.3047G>A (p.Gly1016Asp)

SNV
Germline

Chr9:132896683

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
not specified
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
TSC1-related disorder

Criteria Provided
Conflicting Classifications

CA375367719

rs_1313165721

8 SubmittersRCV000525879 RCV002258952 RCV003999216 RCV004525968 RCV004568821 RCV002506340 RCV003983115

NM_000368.5(TSC1):c.2976-10T>A

SNV
Germline

Chr9:132896764

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis

Criteria Provided
Conflicting Classifications

CA200925957

rs_913722609

2 SubmittersRCV000548030 RCV005044816

NM_000368.5(TSC1):c.2755A>C (p.Lys919Gln)

SNV
Germline

Chr9:132897481

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA375369224

rs_1319954878

4 SubmittersRCV000539845 RCV000565384 RCV004802154

NM_000368.5(TSC1):c.2710A>G (p.Thr904Ala)

SNV
Germline

Chr9:132897526

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA375369387

rs_1554813482

2 SubmittersRCV000555924 RCV002438379

NM_000368.5(TSC1):c.2524C>T (p.Gln842Ter)

SNV
Germline/somatic

Chr9:132900816

Pathogenic

Tuberous sclerosis 1
Condition: not provided
Malignant tumor of urinary bladder
TSC1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA375370274

rs_1447417010

6 SubmittersRCV000529738 RCV000760377 RCV003332194 RCV003403292

NM_000368.5(TSC1):c.1753C>T (p.Pro585Ser)

SNV
Germline

Chr9:132905825

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA029621

rs_766367103

3 SubmittersRCV000559070 RCV002298658 RCV002404458

NM_000368.5(TSC1):c.1489G>C (p.Val497Leu)

SNV
Germline

Chr9:132906089

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA200889097

rs_946491568

3 SubmittersRCV000541596 RCV002395390 RCV004802150

NM_000368.5(TSC1):c.1430A>C (p.Lys477Thr)

SNV
Germline

Chr9:132906739

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA375365773

rs_1554816213

6 SubmittersRCV000542508 RCV002395389 RCV003476282 RCV004802149 RCV005869601

NM_000368.5(TSC1):c.1263+4C>T

SNV
Germline

Chr9:132910567

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA658657921

rs_1554817077

4 SubmittersRCV000539194 RCV000853543 RCV002448701 RCV003999186

NM_000368.5(TSC1):c.1099C>G (p.Pro367Ala)

SNV
Germline

Chr9:132911044

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA375367523

rs_1412914051

4 SubmittersRCV000548696 RCV001017287 RCV003999182

NM_000368.5(TSC1):c.917G>A (p.Cys306Tyr)

SNV
Germline

Chr9:132911565

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis 1
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA039723

rs_752290177

8 SubmittersRCV000572956 RCV000713912 RCV001086734 RCV006550375

NM_000368.5(TSC1):c.840A>G (p.Gln280=)

SNV
Germline

Chr9:132912355

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Tuberous sclerosis 1

Criteria Provided
Conflicting Classifications

CA467593561

rs_1171852730

9 SubmittersRCV000550106 RCV001017714 RCV001731764 RCV003999229 RCV005044821

NM_000368.5(TSC1):c.236A>G (p.Tyr79Cys)

SNV
Germline

Chr9:132925714

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA200902187

rs_373855276

2 SubmittersRCV000550161 RCV005298522

NM_000368.5(TSC1):c.130A>G (p.Thr44Ala)

SNV
Germline

Chr9:132927281

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Tuberous sclerosis 1
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA375375194

rs_1399266964

4 SubmittersRCV000550137 RCV002384148 RCV005049599 RCV006550357

NM_000368.5(TSC1):c.121C>T (p.Leu41Phe)

SNV
Germline

Chr9:132927290

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
TSC1-related disorder
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA027330

rs_118203334

7 SubmittersRCV000525235 RCV001010403 RCV003424114 RCV003999185

NM_000548.5(TSC2):c.344G>A (p.Arg115His)

SNV
Germline

Chr16:2054303

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA046888

rs_764529584

8 SubmittersRCV000544848 RCV001020329 RCV003999291

NM_000548.5(TSC2):c.374A>G (p.Lys125Arg)

SNV
Germline

Chr16:2054333

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA048294

rs_767059758

8 SubmittersRCV000550667 RCV001021036 RCV001115885 RCV001591241

NM_000548.5(TSC2):c.670G>A (p.Ala224Thr)

SNV
Germline

Chr16:2056665

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA056104

rs_772558666

6 SubmittersRCV000528200 RCV002255451 RCV003237914 RCV003999333

NM_000548.5(TSC2):c.686A>G (p.Asn229Ser)

SNV
Germline

Chr16:2056681

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394312549

rs_1555498800

5 SubmittersRCV000536042 RCV001025745 RCV003223650 RCV003999334

NM_000548.5(TSC2):c.691C>T (p.Leu231=)

SNV
Germline

Chr16:2056686

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA492957099

rs_1555498820

6 SubmittersRCV000548243 RCV002377104 RCV005000178 RCV004802172

NM_000548.5(TSC2):c.774+4G>A

SNV
Germline

Chr16:2056773

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA658658357

rs_1244859914

5 SubmittersRCV000531916 RCV002404481 RCV003999338 RCV005641684

NM_000548.5(TSC2):c.955G>A (p.Val319Met)

SNV
Germline

Chr16:2058853

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Isolated focal cortical dysplasia type II
Condition: not provided

Criteria Provided
Conflicting Classifications

CA394315689

rs_1432086775

5 SubmittersRCV000541726 RCV002377105 RCV003999344 RCV004568840 RCV004777725

NM_000548.5(TSC2):c.1214A>G (p.Glu405Gly)

SNV
Germline

Chr16:2061965

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394321063

rs_1057518321

4 SubmittersRCV000549305 RCV002358534 RCV003459237 RCV003999247

NM_000548.5(TSC2):c.1356C>A (p.Phe452Leu)

SNV
Germline

Chr16:2062595

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA029417

rs_769147552

6 SubmittersRCV000532223 RCV001011150 RCV001770439 RCV003470757 RCV003999250

NM_000548.5(TSC2):c.1549G>T (p.Glu517Ter)

SNV
Germline

Chr16:2064377

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394326427

rs_1555502518

1 SubmittersRCV000558717

NM_000548.5(TSC2):c.1944C>T (p.Tyr648=)

SNV
Germline

Chr16:2071614

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA276737411

rs_878925198

5 SubmittersRCV000549481 RCV002255446 RCV003999260

NM_000548.5(TSC2):c.1945A>G (p.Met649Val)

SNV
Germline

Chr16:2071615

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA034654

rs_762331610

8 SubmittersRCV000576099 RCV000559856 RCV001558235 RCV003999261

NM_000548.5(TSC2):c.2077C>T (p.Leu693=)

SNV
Germline

Chr16:2071914

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA493042635

rs_1167258871

6 SubmittersRCV000557560 RCV001116105 RCV002420463

NM_000548.5(TSC2):c.2561C>T (p.Pro854Leu)

SNV
Germline

Chr16:2075814

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394278313

rs_1180511535

6 SubmittersRCV000552388 RCV001770442 RCV002456153 RCV003999272

NM_000548.5(TSC2):c.2788A>G (p.Lys930Glu)

SNV
Germline

Chr16:2076536

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394279985

rs_1596369527

2 SubmittersRCV000873551 RCV002434133

NM_000548.5(TSC2):c.3365G>A (p.Arg1122His)

SNV
Germline

Chr16:2079637

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA046129

rs_369536711

9 SubmittersRCV000548172 RCV001020102 RCV001551674 RCV005398809

NM_000548.5(TSC2):c.3567G>A (p.Leu1189=)

SNV
Germline

Chr16:2080334

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA047482

rs_146734084

8 SubmittersRCV000713928 RCV001020628 RCV001079859 RCV001119239

NM_000548.5(TSC2):c.3785A>G (p.Lys1262Arg)

SNV
Germline

Chr16:2081769

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA048406

rs_765255206

3 SubmittersRCV000526703 RCV002350296 RCV006550401

NM_000548.5(TSC2):c.3884-8C>G

SNV
Germline

Chr16:2083687

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA620379146

rs_397515219

6 SubmittersRCV000529513 RCV001591242 RCV002257813 RCV003999300

NM_000548.5(TSC2):c.3899T>C (p.Met1300Thr)

SNV
Germline

Chr16:2083710

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA394296835

rs_1349341137

4 SubmittersRCV000547432 RCV002483446 RCV002367881 RCV004568835

NM_000548.5(TSC2):c.4063A>G (p.Arg1355Gly)

SNV
Germline

Chr16:2084285

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394299372

rs_1555513911

6 SubmittersRCV000544952 RCV000764030 RCV001584296 RCV004024051 RCV003999303

NM_000548.5(TSC2):c.4157G>A (p.Ser1386Asn)

SNV
Germline

Chr16:2084379

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394299699

rs_1555514071

2 SubmittersRCV000535213 RCV002330896

NM_000548.5(TSC2):c.4292C>T (p.Ser1431Leu)

SNV
Germline

Chr16:2084514

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA050780

rs_375785710

3 SubmittersRCV000547245 RCV002330900 RCV003999311

NM_000548.5(TSC2):c.4509G>A (p.Gln1503=)

SNV
Germline

Chr16:2084966

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA493043366

rs_45517349

3 SubmittersRCV000558942 RCV004597825

NM_000548.5(TSC2):c.4516C>T (p.His1506Tyr)

SNV
Germline

Chr16:2084973

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394302760

rs_1173459869

4 SubmittersRCV000542919 RCV001764575 RCV002341363

NM_000548.5(TSC2):c.4586G>A (p.Arg1529Gln)

SNV
Germline

Chr16:2085246

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394304453

rs_769834772

5 SubmittersRCV000538611 RCV002341366 RCV002491059 RCV003999317

NM_000548.5(TSC2):c.4867A>T (p.Thr1623Ser)

SNV
Germline

Chr16:2086749

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA052981

rs_749501410

6 SubmittersRCV000524930 RCV001023171 RCV003999320

NM_000548.5(TSC2):c.5131G>C (p.Val1711Leu)

SNV
Germline

Chr16:2088110

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394312457

rs_139779505

3 SubmittersRCV000543917 RCV002350297 RCV003999325

NM_000548.5(TSC2):c.5193C>A (p.Asn1731Lys)

SNV
Germline

Chr16:2088259

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394314174

rs_753336580

3 SubmittersRCV000557244 RCV000568990

NM_000548.5(TSC2):c.147C>T (p.Ser49=)

SNV
Germline

Chr16:2050408

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA492954855

rs_1555495692

4 SubmittersRCV000544845 RCV002256372

NM_000548.5(TSC2):c.215A>G (p.Lys72Arg)

SNV
Germline

Chr16:2050476

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA394303587

rs_1489623582

7 SubmittersRCV000549108 RCV001014482 RCV003459239 RCV003999266 RCV004767367

NM_000548.5(TSC2):c.277C>T (p.Arg93Trp)

SNV
Germline

Chr16:2053393

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA041936

rs_760688660

3 SubmittersRCV000557507 RCV003999278 RCV004024047

NM_000548.5(TSC2):c.758G>T (p.Cys253Phe)

SNV
Germline

Chr16:2056753

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394312795

rs_766547457

3 SubmittersRCV000543169 RCV002395408 RCV003999336

NM_000548.5(TSC2):c.1078A>G (p.Ile360Val)

SNV
Germline

Chr16:2060772

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394318052

rs_1555500560

4 SubmittersRCV000532295 RCV002256370 RCV006550377

NM_000548.5(TSC2):c.1121C>G (p.Thr374Ser)

SNV
Germline

Chr16:2061872

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA394319747

rs_1440918649

4 SubmittersRCV000531383 RCV002438410 RCV003999245 RCV006264053

NM_000548.5(TSC2):c.1204G>A (p.Gly402Arg)

SNV
Germline

Chr16:2061955

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA028779

rs_771561593

5 SubmittersRCV000545351 RCV001010318 RCV003999246

NM_000548.5(TSC2):c.1370C>A (p.Ser457Tyr)

SNV
Germline

Chr16:2062980

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394323620

rs_1278503244

5 SubmittersRCV000534906 RCV001011185 RCV003999251

NM_000548.5(TSC2):c.1646A>G (p.Asp549Gly)

SNV
Germline

Chr16:2065565

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA394267934

rs_1170792905

3 SubmittersRCV000542715 RCV002395406 RCV003314613

NM_000548.5(TSC2):c.1771G>A (p.Val591Ile)

SNV
Germline

Chr16:2070510

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA276735673

rs_984275273

3 SubmittersRCV000548111 RCV003302845 RCV003999257

NM_000548.5(TSC2):c.1987C>T (p.Leu663Phe)

SNV
Germline

Chr16:2071824

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA035428

rs_747516623

6 SubmittersRCV000526190 RCV001577413 RCV001013916 RCV003999262

NM_000548.5(TSC2):c.2128C>T (p.Leu710=)

SNV
Germline

Chr16:2072271

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
TSC2-related disorder
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA493042666

rs_1225700612

10 SubmittersRCV000528441 RCV001584293 RCV002257811 RCV004537995 RCV006550385

NM_000548.5(TSC2):c.342G>C (p.Glu114Asp)

SNV
Germline

Chr16:2054301

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394306402

rs_1555497542

2 SubmittersRCV000560861 RCV002341362

NM_000548.5(TSC2):c.2315C>T (p.Ala772Val)

SNV
Germline

Chr16:2072943

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA038376

rs_397514984

4 SubmittersRCV000544312 RCV000571953 RCV003225085

NM_000548.5(TSC2):c.501G>C (p.Trp167Cys)

SNV
Germline

Chr16:2055421

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA053524

rs_755728007

5 SubmittersRCV000547492 RCV000765259 RCV002341371 RCV003470759

NM_000548.5(TSC2):c.535G>A (p.Val179Met)

SNV
Germline

Chr16:2055455

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA055211

rs_777105764

2 SubmittersRCV000538231 RCV002350303

NM_000548.5(TSC2):c.848+5G>A

SNV
Germline

Chr16:2057183

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA658658340

rs_1370989559

4 SubmittersRCV000526766 RCV001017884 RCV006550412

NM_000548.5(TSC2):c.2586G>A (p.Ala862=)

SNV
Germline

Chr16:2075839

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
TSC2-related disorder
not specified
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA040154

rs_752865665

10 SubmittersRCV000530813 RCV001016020 RCV001696996 RCV004541709 RCV004704074 RCV006550389

NM_000548.5(TSC2):c.2681C>T (p.Ala894Val)

SNV
Germline

Chr16:2076109

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA040893

rs_777282955

7 SubmittersRCV000559686 RCV002438411 RCV003237913 RCV003999273

NM_000548.5(TSC2):c.994G>A (p.Glu332Lys)

SNV
Germline

Chr16:2060688

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA276776600

rs_911600402

3 SubmittersRCV000559621 RCV002384165

NM_000548.5(TSC2):c.997G>T (p.Val333Leu)

SNV
Germline

Chr16:2060691

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394317320

rs_1336741146

6 SubmittersRCV000531279 RCV002384166 RCV002483449 RCV002473056 RCV003999347

NM_000548.5(TSC2):c.2749C>T (p.Arg917Trp)

SNV
Germline

Chr16:2076497

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA041738

rs_781587135

4 SubmittersRCV000554781 RCV002438413 RCV003999276

NM_000548.5(TSC2):c.2823C>T (p.Asn941=)

SNV
Germline

Chr16:2076571

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA042060

rs_750806272

8 SubmittersRCV000592123 RCV001086136 RCV002257812 RCV006550391

NM_000548.5(TSC2):c.1286A>G (p.Tyr429Cys)

SNV
Germline

Chr16:2062525

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA029149

rs_774727624

3 SubmittersRCV000540723 RCV002384163 RCV003992321

NM_000548.5(TSC2):c.2963G>A (p.Arg988His)

SNV
Germline

Chr16:2077723

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
TSC2-related disorder
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA043038

rs_397515306

5 SubmittersRCV000530166 RCV002255448 RCV004735613 RCV006550392

NM_000548.5(TSC2):c.1780A>G (p.Ile594Val)

SNV
Germline

Chr16:2070519

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394272907

rs_1555505128

3 SubmittersRCV000526430 RCV006447369 RCV005749577

NM_000548.5(TSC2):c.2966+4G>T

SNV
Germline

Chr16:2077730

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA620377268

rs_1235253082

2 SubmittersRCV000540464 RCV002438420

NM_000548.5(TSC2):c.1839+2T>C

SNV
Germline

Chr16:2070580

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394273023

rs_1555505211

1 SubmittersRCV000524605

NM_000548.5(TSC2):c.3199G>C (p.Val1067Leu)

SNV
Germline

Chr16:2079343

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided
Isolated focal cortical dysplasia type II
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA044723

rs_200681169

4 SubmittersRCV000525625 RCV004691884 RCV004568833 RCV004024048

NM_000548.5(TSC2):c.1839+4T>C

SNV
Germline

Chr16:2070582

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA620705905

rs_1246472342

2 SubmittersRCV000554315 RCV003302846

NM_000548.5(TSC2):c.3358G>C (p.Val1120Leu)

SNV
Germline

Chr16:2079630

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
TSC2-related disorder
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394286664

rs_1053311636

8 SubmittersRCV000527776 RCV000569864 RCV001584294 RCV004527647 RCV006550395

NM_000548.5(TSC2):c.2437G>A (p.Val813Met)

SNV
Germline

Chr16:2074281

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Ovarian cancer
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA039041

rs_375030314

6 SubmittersRCV000535705 RCV001015534 RCV003153712 RCV003999270

NM_000548.5(TSC2):c.3551C>T (p.Ala1184Val)

SNV
Germline

Chr16:2080318

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Lymphangiomyomatosis
Condition: not provided
TSC2-related disorder
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394289510

rs_1060500939

8 SubmittersRCV000527232 RCV000567911 RCV000764028 RCV002225656 RCV004735614 RCV006550397

NM_000548.5(TSC2):c.2510C>G (p.Ala837Gly)

SNV
Germline

Chr16:2074354

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
TSC2-related disorder

Criteria Provided
Conflicting Classifications

CA039285

rs_139919040

4 SubmittersRCV000553299 RCV002431634 RCV004527646

NM_000548.5(TSC2):c.2640-7A>G

SNV
Germline

Chr16:2076061

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA658658379

rs_1555508569

3 SubmittersRCV000534426 RCV006260188

NM_000548.5(TSC2):c.3675C>T (p.Asn1225=)

SNV
Germline

Chr16:2081659

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA493043046

rs_1483188996

4 SubmittersRCV000548837 RCV001502296 RCV002456159

NM_000548.5(TSC2):c.3890C>T (p.Ala1297Val)

SNV
Germline

Chr16:2083701

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided
Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
TSC2-related disorder
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA276752704

rs_371239156

10 SubmittersRCV000546530 RCV001531843 RCV001121242 RCV002358537 RCV004541711 RCV004568834

NM_000548.5(TSC2):c.2759T>C (p.Val920Ala)

SNV
Germline

Chr16:2076507

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA041795

rs_749383639

4 SubmittersRCV000543543 RCV002438414 RCV005018948

NM_000548.5(TSC2):c.4019C>T (p.Ser1340Phe)

SNV
Germline

Chr16:2084241

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA050173

rs_753656246

3 SubmittersRCV000531608 RCV004802166 RCV004948425

NM_000548.5(TSC2):c.2962C>T (p.Arg988Cys)

SNV
Germline

Chr16:2077722

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA043032

rs_763047420

6 SubmittersRCV000556209 RCV001755848 RCV003302849 RCV003999281

NM_000548.5(TSC2):c.4074C>T (p.Pro1358=)

SNV
Germline

Chr16:2084296

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA050345

rs_144098854

7 SubmittersRCV000537919 RCV001021809 RCV004722899 RCV006550402

NM_000548.5(TSC2):c.278G>A (p.Arg93Gln)

SNV
Germline

Chr16:2053394

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394305714

rs_1222477746

7 SubmittersRCV000546307 RCV000575589 RCV003459240 RCV003999279

NM_000548.5(TSC2):c.299C>T (p.Ala100Val)

SNV
Germline

Chr16:2053415

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Tuberous sclerosis 2
TSC2-related disorder
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA043693

rs_375824753

10 SubmittersRCV000575476 RCV000594514 RCV000761927 RCV001086235 RCV004537998 RCV006550394

NM_000548.5(TSC2):c.3415G>A (p.Val1139Ile)

SNV
Germline

Chr16:2080182

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA046764

rs_759174655

3 SubmittersRCV000543971 RCV002456156 RCV003999289

NM_000548.5(TSC2):c.3435G>A (p.Pro1145=)

SNV
Germline

Chr16:2080202

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Lymphangiomyomatosis
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
TSC2-related disorder

Criteria Provided
Conflicting Classifications

CA046839

rs_749633483

12 SubmittersRCV000536909 RCV000768122 RCV001566491 RCV002456157 RCV003999290 RCV004537999

NM_000548.5(TSC2):c.3526C>T (p.Pro1176Ser)

SNV
Germline

Chr16:2080293

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394289363

rs_1326077397

6 SubmittersRCV000534200 RCV001574195 RCV002258956 RCV006550396

NM_000548.5(TSC2):c.4348C>G (p.Pro1450Ala)

SNV
Germline

Chr16:2084570

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA050903

rs_376381196

4 SubmittersRCV000550016 RCV001569152 RCV002330903

NM_000548.5(TSC2):c.356T>G (p.Leu119Arg)

SNV
Germline

Chr16:2054315

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394306574

rs_1477548902

3 SubmittersRCV000528192 RCV005422051 RCV004024050

NM_000548.5(TSC2):c.521C>T (p.Ser174Leu)

SNV
Germline

Chr16:2055441

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Condition: not provided
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA054487

rs_747538587

8 SubmittersRCV000551476 RCV001023750 RCV000590906 RCV004760575 RCV003883156

NM_000548.5(TSC2):c.3610+1G>C

SNV
Germline

Chr16:2080378

Pathogenic

Tuberous sclerosis 2
Condition: not provided
Clear cell carcinoma of kidney

Criteria Provided
Single Submitter

CA394289761

rs_45517299

3 SubmittersRCV000529115 RCV001535827 RCV005896827

NM_000548.5(TSC2):c.4569+2T>A

SNV
Germline

Chr16:2085028

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394303141

rs_1555514984

1 SubmittersRCV000549364

NM_000548.5(TSC2):c.781C>G (p.Arg261Gly)

SNV
Germline

Chr16:2057111

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA394312974

rs_45517130

8 SubmittersRCV000537091 RCV001026846 RCV003322783 RCV003999339 RCV004568839

NM_000548.5(TSC2):c.828G>A (p.Met276Ile)

SNV
Germline

Chr16:2057158

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394313332

rs_1318274503

5 SubmittersRCV000538015 RCV001779000 RCV002431636 RCV003999342

NM_000548.5(TSC2):c.4703C>G (p.Ser1568Cys)

SNV
Germline

Chr16:2086233

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394307306

rs_1555516036

5 SubmittersRCV000532722 RCV001022928 RCV004568836 RCV006550408

NM_000548.5(TSC2):c.925C>T (p.Leu309Phe)

SNV
Germline

Chr16:2058823

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394315433

rs_1258567486

7 SubmittersRCV000528235 RCV001019094 RCV001355181 RCV003999343

NM_000548.5(TSC2):c.976-10C>T

SNV
Germline

Chr16:2060660

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA056787

rs_765990217

5 SubmittersRCV000554329 RCV001566191 RCV003999345

NM_000548.5(TSC2):c.976-9G>A

SNV
Germline

Chr16:2060661

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA276776556

rs_367613848

3 SubmittersRCV000530490 RCV002256377

NM_000548.5(TSC2):c.1317C>A (p.Asp439Glu)

SNV
Germline

Chr16:2062556

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394322307

rs_777457815

7 SubmittersRCV000539682 RCV000562035 RCV003236813 RCV003459238 RCV003999248

NM_000548.5(TSC2):c.5177A>C (p.His1726Pro)

SNV
Germline

Chr16:2088243

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
TSC2-related disorder
Tuberous sclerosis syndrome
Condition: not provided
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA394314050

rs_1555440475

7 SubmittersRCV000549406 RCV000573694 RCV004538002 RCV003999326 RCV004592581 RCV004568838

NM_000548.5(TSC2):c.5203A>G (p.Ile1735Val)

SNV
Germline

Chr16:2088269

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
not specified
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
TSC2-related disorder

Criteria Provided
Conflicting Classifications

CA054409

rs_781407050

6 SubmittersRCV000550602 RCV000604770 RCV002341373 RCV003999327 RCV004538003

NM_000548.5(TSC2):c.4176G>A (p.Gln1392=)

SNV
Germline

Chr16:2084398

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA050602

rs_749930791

7 SubmittersRCV000547824 RCV001021991 RCV001549763 RCV006550403

NM_000548.5(TSC2):c.1353A>G (p.Arg451=)

SNV
Germline

Chr16:2062592

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA492962519

rs_1555501456

3 SubmittersRCV000558150 RCV005018939 RCV005286121

NM_000548.5(TSC2):c.1513C>G (p.Arg505Gly)

SNV
Germline

Chr16:2064341

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis

Criteria Provided
Conflicting Classifications

CA394326162

rs_45517179

5 SubmittersRCV000543764 RCV002256373 RCV003999254 RCV005018941

NM_000548.5(TSC2):c.5299C>G (p.Leu1767Val)

SNV
Germline

Chr16:2088485

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
not specified
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Lymphangiomyomatosis
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA054998

rs_1051758

6 SubmittersRCV000547303 RCV000570898 RCV003403303 RCV005010511 RCV006554550

NM_000548.5(TSC2):c.4225C>G (p.Arg1409Gly)

SNV
Germline

Chr16:2084447

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA276753368

rs_45517333

8 SubmittersRCV000540815 RCV001672838 RCV002330897 RCV003999309 RCV005018950

NM_000548.5(TSC2):c.4250G>A (p.Arg1417Gln)

SNV
Germline

Chr16:2084472

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
TSC2-related disorder

Criteria Provided
Conflicting Classifications

CA394300437

rs_1343536158

4 SubmittersRCV000524756 RCV002330898 RCV003999310 RCV004735616

NM_000548.5(TSC2):c.5320A>G (p.Ser1774Gly)

SNV
Germline

Chr16:2088506

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
not specified
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA055089

rs_368083145

6 SubmittersRCV000535476 RCV001821554 RCV002350300 RCV004802171 RCV005641683

NM_000548.5(TSC2):c.1629G>A (p.Pro543=)

SNV
Germline

Chr16:2065548

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
Lung cancer

Criteria Provided
Conflicting Classifications

CA031881

rs_750309571

5 SubmittersRCV000553965 RCV002404475 RCV004760574 RCV004802162 RCV005896826

NM_000548.5(TSC2):c.4273G>A (p.Gly1425Arg)

SNV
Germline

Chr16:2084495

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA050746

rs_763497329

7 SubmittersRCV000554219 RCV001022193 RCV001532308

NM_000548.5(TSC2):c.4273G>C (p.Gly1425Arg)

SNV
Germline

Chr16:2084495

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394300730

rs_763497329

5 SubmittersRCV000530101 RCV002330899 RCV003318590 RCV006550404

NM_000548.5(TSC2):c.1690G>A (p.Val564Ile)

SNV
Germline

Chr16:2065609

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA032290

rs_147072281

3 SubmittersRCV000552124 RCV002404476 RCV003999256

NM_000548.5(TSC2):c.4332C>G (p.Pro1444=)

SNV
Germline

Chr16:2084554

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA050874

rs_373973956

4 SubmittersRCV000556922 RCV002330902 RCV006550405

NM_000548.5(TSC2):c.4351C>A (p.Arg1451Ser)

SNV
Germline

Chr16:2084573

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
TSC2-related disorder
not specified
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA050936

rs_369553241

7 SubmittersRCV000557731 RCV001022338 RCV004527648 RCV005407722 RCV006260191 RCV003999314

NM_000548.5(TSC2):c.4368C>T (p.Leu1456=)

SNV
Germline

Chr16:2084590

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA493043491

rs_1555514397

4 SubmittersRCV000526904 RCV002257814

NM_000548.5(TSC2):c.1730C>T (p.Thr577Ile)

SNV
Germline

Chr16:2070469

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA033165

rs_770895919

8 SubmittersRCV000545413 RCV001012884 RCV005018942 RCV004722897 RCV004802163

NM_000548.5(TSC2):c.4527C>G (p.Phe1509Leu)

SNV
Germline

Chr16:2084984

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394302842

rs_775919951

6 SubmittersRCV000535938 RCV000568343 RCV004808770 RCV006550406

NM_000548.5(TSC2):c.1807A>G (p.Thr603Ala)

SNV
Germline

Chr16:2070546

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394272963

rs_876660140

3 SubmittersRCV000551645 RCV005018943 RCV005502829

NM_000548.5(TSC2):c.4569+2T>G

SNV
Germline

Chr16:2085028

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394303139

rs_1555514984

1 SubmittersRCV000525267

NM_000548.5(TSC2):c.4823A>G (p.Tyr1608Cys)

SNV
Germline

Chr16:2086353

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA052633

rs_759795928

3 SubmittersRCV000547996 RCV002330908 RCV005628826

NM_000548.5(TSC2):c.1839G>C (p.Gln613His)

SNV
Germline

Chr16:2070578

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394273020

rs_1555505208

1 SubmittersRCV000532879

NM_000548.5(TSC2):c.2311A>T (p.Thr771Ser)

SNV
Germline

Chr16:2072939

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394276625

rs_1555506986

3 SubmittersRCV000529435 RCV002448718 RCV006550386

NM_000548.5(TSC2):c.2395C>T (p.Arg799Cys)

SNV
Germline

Chr16:2074239

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394277095

rs_1366556255

5 SubmittersRCV000536678 RCV001015392 RCV001755846 RCV004802164

NM_000548.5(TSC2):c.2446C>G (p.Pro816Ala)

SNV
Germline

Chr16:2074290

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394277438

rs_760265207

2 SubmittersRCV000550605 RCV004948423

NM_000548.5(TSC2):c.2467C>T (p.Leu823=)

SNV
Germline

Chr16:2074311

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA276740864

rs_554509064

8 SubmittersRCV000528082 RCV001015631 RCV001547772 RCV003999271

NM_000548.5(TSC2):c.3030G>C (p.Gln1010His)

SNV
Germline

Chr16:2079095

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394284019

rs_776658284

6 SubmittersRCV000532858 RCV001764574 RCV002438422 RCV003999283

NM_000548.5(TSC2):c.3048A>G (p.Lys1016=)

SNV
Germline

Chr16:2079113

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA493042736

rs_1555510299

4 SubmittersRCV000558039 RCV002448721 RCV004704076

NM_000548.5(TSC2):c.3293C>G (p.Pro1098Arg)

SNV
Germline

Chr16:2079565

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA045581

rs_773545852

4 SubmittersRCV000544493 RCV002316560 RCV003999287

NM_000548.5(TSC2):c.3294C>T (p.Pro1098=)

SNV
Germline

Chr16:2079566

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA045602

rs_150126331

9 SubmittersRCV000552377 RCV001019748 RCV001116224 RCV001553545

NM_000548.5(TSC2):c.3325C>G (p.Pro1109Ala)

SNV
Germline

Chr16:2079597

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394286595

rs_1555510880

3 SubmittersRCV000533842 RCV002291660 RCV002323987

NM_000548.5(TSC2):c.3815-3C>G

SNV
Germline

Chr16:2082433

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA658656513

rs_770054036

3 SubmittersRCV000532220 RCV002367879 RCV004772973

NM_000548.5(TSC2):c.4351C>G (p.Arg1451Gly)

SNV
Germline

Chr16:2084573

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis

Criteria Provided
Conflicting Classifications

CA050943

rs_369553241

5 SubmittersRCV000533905 RCV001022339 RCV003999315 RCV005018951

NM_000548.5(TSC2):c.4508A>G (p.Gln1503Arg)

SNV
Germline

Chr16:2084965

Likely pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394302741

rs_45516293

1 SubmittersRCV000546695

NM_000548.5(TSC2):c.4552A>G (p.Ile1518Val)

SNV
Germline

Chr16:2085009

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA051585

rs_764903148

6 SubmittersRCV000548577 RCV000571084 RCV001546708 RCV004701630

NM_000548.5(TSC2):c.4571C>G (p.Ser1524Ter)

SNV
Germline

Chr16:2085231

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394304306

rs_1441428144

1 SubmittersRCV000542407

NM_000548.5(TSC2):c.4982C>A (p.Thr1661Asn)

SNV
Germline

Chr16:2086864

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394309184

rs_776541842

2 SubmittersRCV000545542 RCV004024053

NM_000548.5(TSC2):c.5338A>C (p.Thr1780Pro)

SNV
Germline

Chr16:2088524

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
not specified
Hereditary cancer-predisposing syndrome
TSC2-related disorder

Criteria Provided
Conflicting Classifications

CA276760048

rs_989487316

5 SubmittersRCV000548829 RCV000615984 RCV002350301 RCV004735618

NM_000368.5(TSC1):c.2882A>G (p.Glu961Gly)

SNV
Germline

Chr9:132897277

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Lymphangiomyomatosis
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA034889

rs_760762170

4 SubmittersRCV000563196 RCV000796947 RCV002491142

NM_000368.5(TSC1):c.1819C>T (p.Leu607Phe)

SNV
Germline

Chr9:132905759

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA375363304

rs_1554815795

4 SubmittersRCV000575387 RCV001853805 RCV003228962 RCV004001142

NM_000368.5(TSC1):c.3386C>T (p.Ala1129Val)

SNV
Germline

Chr9:132896344

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA036688

rs_772233665

5 SubmittersRCV000573969 RCV000698607 RCV005000325 RCV004802243

NM_000368.5(TSC1):c.3253A>G (p.Lys1085Glu)

SNV
Germline

Chr9:132896477

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA375366847

rs_1442514678

6 SubmittersRCV000564766 RCV001510606 RCV003237944 RCV006552419

NM_000368.5(TSC1):c.1927A>G (p.Thr643Ala)

SNV
Germline

Chr9:132905651

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA375362637

rs_1485955306

6 SubmittersRCV000566852 RCV000808127 RCV001770526 RCV004001136

NM_000368.5(TSC1):c.518C>T (p.Ala173Val)

SNV
Germline

Chr9:132921964

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA037947

rs_777484049

8 SubmittersRCV000563590 RCV000641975 RCV000764814 RCV003431131 RCV006552417

NM_000368.5(TSC1):c.445C>G (p.Gln149Glu)

SNV
Germline

Chr9:132923411

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1

Criteria Provided
Conflicting Classifications

CA375373395

rs_118203384

3 SubmittersRCV000564302 RCV001308278

NM_000368.5(TSC1):c.3011T>C (p.Met1004Thr)

SNV
Germline

Chr9:132896719

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA035603

rs_757370776

5 SubmittersRCV000574780 RCV000605673 RCV001068166 RCV004568220

NM_000368.5(TSC1):c.3486A>T (p.Glu1162Asp)

SNV
Germline

Chr9:132896244

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1

Criteria Provided
Conflicting Classifications

CA037138

rs_749746550

3 SubmittersRCV000574109 RCV000689229

NM_000368.5(TSC1):c.2722C>T (p.Arg908Trp)

SNV
Germline

Chr9:132897514

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA034396

rs_748845915

5 SubmittersRCV000574197 RCV000641971 RCV005000324 RCV005402950

NM_000368.5(TSC1):c.3413C>A (p.Pro1138His)

SNV
Germline

Chr9:132896317

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis 1

Criteria Provided
Conflicting Classifications

CA036822

rs_756449737

4 SubmittersRCV000574531 RCV000602459 RCV001205610

NM_000368.5(TSC1):c.692C>T (p.Pro231Leu)

SNV
Germline

Chr9:132921408

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA375371402

rs_1322586198

6 SubmittersRCV000574390 RCV000692073 RCV000762584

NM_000368.5(TSC1):c.3112A>G (p.Ser1038Gly)

SNV
Germline

Chr9:132896618

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Tuberous sclerosis syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA035829

rs_768443391

6 SubmittersRCV000565729 RCV000642001 RCV004001135 RCV006260339

NM_000368.5(TSC1):c.3107G>A (p.Gly1036Glu)

SNV
Germline

Chr9:132896623

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Condition: not provided
TSC1-related disorder

Criteria Provided
Conflicting Classifications

CA035815

rs_774196458

6 SubmittersRCV000564806 RCV000642049 RCV003237943 RCV003945355

NM_000368.5(TSC1):c.467A>C (p.Asp156Ala)

SNV
Germline

Chr9:132923389

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Condition: not provided
Tuberous sclerosis syndrome
TSC1-related disorder

Criteria Provided
Conflicting Classifications

CA200901578

rs_893232039

7 SubmittersRCV000569391 RCV000642000 RCV001570618 RCV004001132 RCV004745487

NM_000368.5(TSC1):c.1678G>A (p.Gly560Ser)

SNV
Germline

Chr9:132905900

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA029360

rs_746304922

7 SubmittersRCV000573925 RCV000697288 RCV003139872 RCV006552409

NM_000368.5(TSC1):c.135G>A (p.Leu45=)

SNV
Germline

Chr9:132927276

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA028469

rs_149278759

8 SubmittersRCV000570929 RCV000642009 RCV000713904 RCV004802242

NM_000368.5(TSC1):c.43G>A (p.Asp15Asn)

SNV
Germline

Chr9:132928830

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Tuberous sclerosis syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA375375386

rs_1554821020

7 SubmittersRCV000561767 RCV000697551 RCV004001133 RCV004721462

NM_000548.5(TSC2):c.375G>C (p.Lys125Asn)

SNV
Germline

Chr16:2054334

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA048320

rs_778928295

5 SubmittersRCV000561673 RCV001295259 RCV006552429

NM_000548.5(TSC2):c.695C>T (p.Pro232Leu)

SNV
Germline

Chr16:2056690

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA056163

rs_760100924

7 SubmittersRCV000575507 RCV000686831 RCV001115886 RCV001538849

NM_000548.5(TSC2):c.499T>C (p.Trp167Arg)

SNV
Germline

Chr16:2055419

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Isolated focal cortical dysplasia type II
Condition: not provided

Criteria Provided
Conflicting Classifications

CA394309132

rs_1555498118

6 SubmittersRCV000574722 RCV000644193 RCV004001156 RCV004568221 RCV005869640

NM_000548.5(TSC2):c.1947G>A (p.Met649Ile)

SNV
Germline

Chr16:2071784

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA035244

rs_775845436

5 SubmittersRCV000561184 RCV001202543 RCV004802244

NM_000548.5(TSC2):c.821A>G (p.Tyr274Cys)

SNV
Germline

Chr16:2057151

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided
Lymphangiomyomatosis
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA394313259

rs_1305592691

5 SubmittersRCV000567862 RCV001035509 RCV002291670 RCV005018972

NM_000548.5(TSC2):c.1052A>G (p.Lys351Arg)

SNV
Germline

Chr16:2060746

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA028047

rs_748109163

5 SubmittersRCV000564908 RCV000802991 RCV004802249

NM_000548.5(TSC2):c.1120-5T>C

SNV
Germline

Chr16:2061866

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA658658350

rs_896351318

2 SubmittersRCV000562514 RCV002060415

NM_000548.5(TSC2):c.1154A>G (p.His385Arg)

SNV
Germline

Chr16:2061905

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA028650

rs_757353933

6 SubmittersRCV000570261 RCV001054845 RCV004001174 RCV005019000

NM_000548.5(TSC2):c.1187A>T (p.Asp396Val)

SNV
Germline

Chr16:2061938

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA394320618

rs_1365616275

6 SubmittersRCV000568241 RCV000644079 RCV004001164 RCV004568223

NM_000548.5(TSC2):c.1654G>A (p.Ala552Thr)

SNV
Germline

Chr16:2065573

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA394268001

rs_777121421

4 SubmittersRCV000572824 RCV000804218 RCV001509505

NM_000548.5(TSC2):c.1689C>T (p.Ala563=)

SNV
Germline

Chr16:2065608

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome
TSC2-related disorder

Criteria Provided
Conflicting Classifications

CA032258

rs_779858018

10 SubmittersRCV000571328 RCV000989420 RCV001119050 RCV004530623

NM_000548.5(TSC2):c.2966+5C>T

SNV
Germline

Chr16:2077731

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA043312

rs_767328300

4 SubmittersRCV000568857 RCV000644213 RCV006552422

NM_000548.5(TSC2):c.2221-5A>G

SNV
Germline

Chr16:2072844

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA658658375

rs_1555506829

4 SubmittersRCV000571957 RCV001504142

NM_000548.5(TSC2):c.3317A>T (p.Lys1106Met)

SNV
Germline

Chr16:2079589

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA045694

rs_764113584

2 SubmittersRCV000562552 RCV001853809

NM_000548.5(TSC2):c.3521G>A (p.Arg1174Gln)

SNV
Germline

Chr16:2080288

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA047301

rs_368666554

9 SubmittersRCV000573474 RCV000644372 RCV001722537 RCV004001154

NM_000548.5(TSC2):c.2621C>T (p.Pro874Leu)

SNV
Germline

Chr16:2075874

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA276741554

rs_138527121

5 SubmittersRCV000571394 RCV001047205 RCV004001160

NM_000548.5(TSC2):c.2780C>T (p.Thr927Ile)

SNV
Germline

Chr16:2076528

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394279934

rs_144329595

4 SubmittersRCV000562822 RCV001049308 RCV004001145

NM_000548.5(TSC2):c.3802C>T (p.Arg1268Cys)

SNV
Germline

Chr16:2081786

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Lymphangiomyomatosis
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA276750224

rs_1020561347

8 SubmittersRCV000571806 RCV000706819 RCV002266988 RCV002491143 RCV004001158

NM_000548.5(TSC2):c.2926C>A (p.Arg976=)

SNV
Germline

Chr16:2077686

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA492954949

rs_769527912

4 SubmittersRCV000572155 RCV001396342 RCV005000326

NM_000548.5(TSC2):c.4330C>G (p.Pro1444Ala)

SNV
Germline

Chr16:2084552

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394301394

rs_1459518095

7 SubmittersRCV000574628 RCV000706031 RCV004760624 RCV005401500

NM_000548.5(TSC2):c.3413G>C (p.Arg1138Pro)

SNV
Germline

Chr16:2080180

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394288450

rs_143168379

5 SubmittersRCV000567063 RCV000806032 RCV004802246

NM_000548.5(TSC2):c.97G>A (p.Gly33Ser)

SNV
Germline

Chr16:2048712

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA056868

rs_370230541

3 SubmittersRCV000563255 RCV000644191

NM_000548.5(TSC2):c.5041A>G (p.Asn1681Asp)

SNV
Germline

Chr16:2087914

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA394311437

rs_1200837034

5 SubmittersRCV000567505 RCV001065808 RCV001764691 RCV003465277

NM_000548.5(TSC2):c.4037C>T (p.Ser1346Leu)

SNV
Germline

Chr16:2084259

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA050248

rs_45517326

5 SubmittersRCV000561137 RCV000685152 RCV004001147

NM_000548.5(TSC2):c.4256A>G (p.Gln1419Arg)

SNV
Germline

Chr16:2084478

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA050713

rs_562443546

7 SubmittersRCV000568648 RCV000644236 RCV001558891 RCV002476253 RCV006552427

NM_000548.5(TSC2):c.4950C>T (p.Tyr1650=)

SNV
Germline

Chr16:2086832

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA492959990

rs_1283177454

6 SubmittersRCV000566510 RCV001393490 RCV006552423

NM_000548.5(TSC2):c.5272G>C (p.Ala1758Pro)

SNV
Germline

Chr16:2088458

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394315130

rs_1555441169

5 SubmittersRCV000569715 RCV001327371 RCV002260649 RCV004802248

NM_000548.5(TSC2):c.5311C>G (p.Pro1771Ala)

SNV
Germline

Chr16:2088497

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Tuberous sclerosis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA055040

rs_777006583

5 SubmittersRCV000561599 RCV000609138 RCV000798867 RCV003736826

NM_000548.5(TSC2):c.3447C>A (p.Phe1149Leu)

SNV
Germline

Chr16:2080214

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA394288751

rs_1265832990

3 SubmittersRCV000574125 RCV000824603

NM_000548.5(TSC2):c.3958G>A (p.Val1320Ile)

SNV
Germline

Chr16:2083769

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided
not specified
Ovarian cancer
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA049761

rs_767495365

11 SubmittersRCV000573012 RCV000644391 RCV001722536 RCV003230549 RCV003153748 RCV004001153

NM_000548.5(TSC2):c.4057G>A (p.Val1353Ile)

SNV
Germline

Chr16:2084279

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA050315

rs_373982157

6 SubmittersRCV000563553 RCV000983892 RCV003392417 RCV004001165

NM_000548.5(TSC2):c.4470G>T (p.Glu1490Asp)

SNV
Germline

Chr16:2084692

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA394302508

rs_1221986548

2 SubmittersRCV000565264 RCV001859982

NM_000548.5(TSC2):c.5305C>T (p.His1769Tyr)

SNV
Germline

Chr16:2088491

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA394315380

rs_1555441265

6 SubmittersRCV000563385 RCV000644196 RCV004802245 RCV005018999

NM_000548.5(TSC2):c.101A>G (p.Lys34Arg)

SNV
Germline

Chr16:2048716

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA027990

rs_777988634

2 SubmittersRCV000570293 RCV002530345

NM_000548.5(TSC2):c.1675G>T (p.Asp559Tyr)

SNV
Germline

Chr16:2065594

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA394270458

rs_1555503254

4 SubmittersRCV000564291 RCV001347232 RCV001786404

NM_000548.5(TSC2):c.1828A>G (p.Ile610Val)

SNV
Germline

Chr16:2070567

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394273002

rs_1285778253

5 SubmittersRCV000570537 RCV001369719 RCV003459405 RCV006552420

NM_000548.5(TSC2):c.2027G>T (p.Gly676Val)

SNV
Germline

Chr16:2071864

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA035845

rs_754556513

6 SubmittersRCV000566288 RCV000693999 RCV001840684 RCV004001151

NM_000548.5(TSC2):c.4398G>T (p.Ser1466=)

SNV
Germline

Chr16:2084620

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA051031

rs_376086638

5 SubmittersRCV000565861 RCV000874886 RCV001429119 RCV004001172

NM_000548.5(TSC2):c.5296C>T (p.Pro1766Ser)

SNV
Germline

Chr16:2088482

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA054989

rs_779621136

4 SubmittersRCV000569459 RCV000702221 RCV001532311

NM_000548.5(TSC2):c.*4C>T

SNV
Germline

Chr16:2088614

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Condition: not provided
not specified
Tuberous sclerosis 2
TSC2-related disorder

Criteria Provided
Conflicting Classifications

CA053458

rs_368282661

10 SubmittersRCV000562957 RCV001121427 RCV001591342 RCV001779015 RCV001797753 RCV004530622

NM_000368.5(TSC1):c.2380C>T (p.Gln794Ter)

SNV
Germline

Chr9:132902616

Pathogenic

Condition: not provided
Tuberous sclerosis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA375359090

rs_781371665

4 SubmittersRCV000579359 RCV001853844

NM_000548.5(TSC2):c.1443+5G>C

SNV
Germline

Chr16:2063058

Pathogenic/Likely pathogenic

Condition: not provided
Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA658683908

rs_1057521562

3 SubmittersRCV000579379 RCV000644207 RCV005865353

NM_000548.5(TSC2):c.4372C>A (p.Pro1458Thr)

SNV
Germline

Chr16:2084594

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394301760

rs_1189784704

6 SubmittersRCV000592461 RCV001084298 RCV002331007 RCV006552449

NM_000368.5(TSC1):c.2215C>T (p.Gln739Ter)

SNV
Germline/somatic

Chr9:132902781

Pathogenic

Condition: not provided
Tuberous sclerosis 1
Malignant tumor of urinary bladder

Criteria Provided
Multiple Submitters
No Conflicts

CA375360120

rs_1554815054

5 SubmittersRCV000592666 RCV001387999 RCV003332210

NM_000548.5(TSC2):c.1308G>T (p.Pro436=)

SNV
Germline

Chr16:2062547

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA029292

rs_753764275

6 SubmittersRCV000594395 RCV001010910 RCV001442150 RCV006552453

NM_000548.5(TSC2):c.1122C>G (p.Thr374=)

SNV
Germline

Chr16:2061873

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA492961647

rs_1555500988

4 SubmittersRCV000594602 RCV003512063 RCV005749595

NM_000368.5(TSC1):c.1030-14T>A

SNV
Germline

Chr9:132911127

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 1
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA026841

rs_180810228

7 SubmittersRCV000598740 RCV002062114 RCV004002473

NM_000368.5(TSC1):c.2924T>A (p.Leu975Gln)

SNV
Germline

Chr9:132897235

Conflicting classifications of pathogenicity

not specified
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA035074

rs_549467159

8 SubmittersRCV000606735 RCV000870405 RCV001017513 RCV001531749 RCV006552464

NM_000368.5(TSC1):c.1802C>T (p.Pro601Leu)

SNV
Germline

Chr9:132905776

Conflicting classifications of pathogenicity

not specified
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA029825

rs_543077026

4 SubmittersRCV000606429 RCV000641985 RCV001013234

NM_000548.5(TSC2):c.139-15T>G

SNV
Germline

Chr16:2050385

Conflicting classifications of pathogenicity

not specified
Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA029945

rs_563094714

5 SubmittersRCV000600709 RCV002066812 RCV004002621

NM_000548.5(TSC2):c.1342C>G (p.Leu448Val)

SNV
Germline

Chr16:2062581

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394322581

rs_1413875392

7 SubmittersRCV000644119 RCV001010952 RCV001719001 RCV004002563

NM_000548.5(TSC2):c.2355+5G>A

SNV
Germline

Chr16:2072988

Conflicting classifications of pathogenicity

not specified
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
TSC2-related disorder
Tuberous sclerosis syndrome
Colorectal cancer

Criteria Provided
Conflicting Classifications

CA038638

rs_756995937

9 SubmittersRCV000604942 RCV000685351 RCV001015127 RCV004544767 RCV006552491 RCV005899956

NM_000548.5(TSC2):c.4570-3C>T

SNV
Germline

Chr16:2085227

Conflicting classifications of pathogenicity

not specified
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA620379499

rs_1166715944

5 SubmittersRCV000607674 RCV001047763

NM_000548.5(TSC2):c.5336A>G (p.Gln1779Arg)

SNV
Germline

Chr16:2088522

Conflicting classifications of pathogenicity

not specified
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA055149

rs_748947919

8 SubmittersRCV000604792 RCV000644420 RCV002258972 RCV005638514

NM_000548.5(TSC2):c.1361+13C>T

SNV
Germline

Chr16:2062613

Conflicting classifications of pathogenicity

not specified
Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA276777862

rs_900870796

4 SubmittersRCV000613228 RCV001115996 RCV001797762

NM_000548.5(TSC2):c.2355+6A>T

SNV
Germline

Chr16:2072989

Conflicting classifications of pathogenicity

not specified
Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA276740089

rs_904030973

6 SubmittersRCV000611813 RCV000704516 RCV004002513

NM_000548.5(TSC2):c.3639G>A (p.Glu1213=)

SNV
Germline

Chr16:2081623

Conflicting classifications of pathogenicity

not specified
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA047924

rs_747862818

6 SubmittersRCV000609353 RCV000644279 RCV002456326 RCV005000375

NM_000548.5(TSC2):c.4992C>T (p.Gly1664=)

SNV
Germline

Chr16:2087865

Conflicting classifications of pathogenicity

not specified
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA276758489

rs_145002269

6 SubmittersRCV000612064 RCV001294927 RCV002256413

NM_000548.5(TSC2):c.336+14C>T

SNV
Germline

Chr16:2053466

Conflicting classifications of pathogenicity

not specified
Tuberous sclerosis 2
Condition: not provided
Cervical cancer

Criteria Provided
Conflicting Classifications

CA045804

rs_570065416

6 SubmittersRCV000610912 RCV001797761 RCV002263824 RCV005899928

NM_000548.5(TSC2):c.619G>A (p.Val207Ile)

SNV
Germline

Chr16:2056215

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
not specified

Criteria Provided
Conflicting Classifications

CA055776

rs_139929314

7 SubmittersRCV000729897 RCV001024992 RCV001087306 RCV002469218

NM_000548.5(TSC2):c.1775G>A (p.Ser592Asn)

SNV
Germline

Chr16:2070514

Conflicting classifications of pathogenicity

not specified
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA033474

rs_374371998

7 SubmittersRCV000615980 RCV000688126 RCV002404637 RCV004002515

NM_000548.5(TSC2):c.5161-12C>G

SNV
Germline

Chr16:2088215

Conflicting classifications of pathogenicity

not specified
Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA658798498

rs_1555440351

4 SubmittersRCV000611021 RCV001868067 RCV004002580

NM_000368.5(TSC1):c.3455A>G (p.His1152Arg)

SNV
Germline

Chr9:132896275

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA375366342

rs_1554812543

6 SubmittersRCV000642027 RCV001548709 RCV002256433 RCV005049629

NM_000368.5(TSC1):c.1539A>G (p.Pro513=)

SNV
Germline

Chr9:132906039

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA028984

rs_755055358

5 SubmittersRCV000642067 RCV004003974 RCV004025638 RCV005231219

NM_000368.5(TSC1):c.1332A>C (p.Ser444=)

SNV
Germline

Chr9:132907302

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Condition: not provided
Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA467592067

rs_773003016

6 SubmittersRCV000642029 RCV001771878 RCV004003965 RCV004025636

NM_000368.5(TSC1):c.1250C>A (p.Thr417Lys)

SNV
Germline

Chr9:132910584

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA375366761

rs_77464996

4 SubmittersRCV000642010 RCV001771876 RCV002406392

NM_000368.5(TSC1):c.1078A>G (p.Thr360Ala)

SNV
Germline

Chr9:132911065

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA026993

rs_201738258

7 SubmittersRCV000642012 RCV001538503 RCV002422309 RCV006552589

NM_000368.5(TSC1):c.734G>A (p.Arg245Gln)

SNV
Germline

Chr9:132921366

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA038606

rs_755859330

5 SubmittersRCV000642080 RCV001577881 RCV002386066 RCV004003977

NM_000368.5(TSC1):c.334C>T (p.Leu112Phe)

SNV
Germline

Chr9:132925616

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA375374393

rs_1554820276

3 SubmittersRCV000642047 RCV003162894 RCV005601064

NM_000368.5(TSC1):c.109C>T (p.Arg37Cys)

SNV
Germline

Chr9:132927302

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA375375235

rs_1309560054

6 SubmittersRCV000641995 RCV001771875 RCV002458064 RCV004003956

NM_000368.5(TSC1):c.28C>T (p.Leu10Phe)

SNV
Germline

Chr9:132928845

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA375375415

rs_1399717425

4 SubmittersRCV000642023 RCV001771877 RCV005298559

NM_000368.5(TSC1):c.2934T>C (p.Leu978=)

SNV
Germline

Chr9:132897225

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA467594406

rs_1554813253

5 SubmittersRCV000642072 RCV001017567 RCV005000436

NM_000368.5(TSC1):c.2723G>A (p.Arg908Gln)

SNV
Germline

Chr9:132897513

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA034413

rs_780115763

4 SubmittersRCV000642018 RCV002424445 RCV004003960

NM_000368.5(TSC1):c.902A>G (p.Gln301Arg)

SNV
Germline

Chr9:132912293

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA375369019

rs_1389512342

3 SubmittersRCV000642046 RCV002369687 RCV004003969

NM_000368.5(TSC1):c.751G>T (p.Glu251Ter)

SNV
Germline

Chr9:132912444

Pathogenic

Tuberous sclerosis 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA375369695

rs_1554817691

2 SubmittersRCV000641998 RCV003117449

NM_000368.5(TSC1):c.134T>C (p.Leu45Ser)

SNV
Germline

Chr9:132927277

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA375375186

rs_1554820662

4 SubmittersRCV000642007 RCV003432681

NM_000368.5(TSC1):c.73G>A (p.Val25Met)

SNV
Germline

Chr9:132928800

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
TSC1-related disorder

Criteria Provided
Conflicting Classifications

CA375375324

rs_1230244328

8 SubmittersRCV000642002 RCV001026391 RCV001551730 RCV004003957 RCV004745525

NM_000368.5(TSC1):c.3402C>T (p.Asn1134=)

SNV
Germline

Chr9:132896328

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA036759

rs_769266225

5 SubmittersRCV000642073 RCV002458066 RCV004003976

NM_000368.5(TSC1):c.3120C>T (p.Ser1040=)

SNV
Germline

Chr9:132896610

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA467812833

rs_1289954163

4 SubmittersRCV000642077 RCV002325255 RCV006250824

NM_000368.5(TSC1):c.2449G>T (p.Ala817Ser)

SNV
Germline

Chr9:132901642

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Condition: not provided
Lymphangiomyomatosis
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Isolated focal cortical dysplasia type II
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA375358553

rs_1554814652

5 SubmittersRCV000641969 RCV002284415 RCV002499080 RCV004568423 RCV004025632

NM_000368.5(TSC1):c.1934C>T (p.Pro645Leu)

SNV
Germline

Chr9:132905644

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Tuberous sclerosis 1

Criteria Provided
Conflicting Classifications

CA375362586

rs_1269162063

6 SubmittersRCV001013644 RCV001554285 RCV001496179

NM_000368.5(TSC1):c.1888A>C (p.Lys630Gln)

SNV
Germline

Chr9:132905690

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA375362903

rs_1158059433

3 SubmittersRCV000642048 RCV001013563

NM_000368.5(TSC1):c.1771C>T (p.Pro591Ser)

SNV
Germline

Chr9:132905807

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA375363652

rs_1429666367

4 SubmittersRCV000641965 RCV002397230 RCV003126889 RCV004003952

NM_000368.5(TSC1):c.1571C>T (p.Ser524Phe)

SNV
Germline

Chr9:132906007

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA375365031

rs_1276296733

4 SubmittersRCV000641984 RCV001012234 RCV006552586

NM_000368.5(TSC1):c.1256C>G (p.Pro419Arg)

SNV
Germline

Chr9:132910578

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA200893788

rs_878853959

7 SubmittersRCV000641994 RCV001766381 RCV002257896 RCV004568424 RCV006552588

NM_000368.5(TSC1):c.670A>T (p.Met224Leu)

SNV
Germline

Chr9:132921430

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Condition: not provided

Criteria Provided
Conflicting Classifications

CA200900992

rs_535397245

5 SubmittersRCV000641970 RCV001025559 RCV002477414 RCV004723021

NM_000368.5(TSC1):c.460T>A (p.Phe154Ile)

SNV
Germline

Chr9:132923396

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA375373321

rs_1485129708

3 SubmittersRCV000642014 RCV001022780

NM_000368.5(TSC1):c.370A>G (p.Thr124Ala)

SNV
Germline

Chr9:132923486

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA037338

rs_745871522

5 SubmittersRCV000642038 RCV001584479 RCV002343282 RCV004003966

NM_000368.5(TSC1):c.3434C>T (p.Pro1145Leu)

SNV
Germline

Chr9:132896296

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA037070

rs_767904247

5 SubmittersRCV000642019 RCV001020300 RCV004003961

NM_000368.5(TSC1):c.2867A>G (p.Gln956Arg)

SNV
Germline

Chr9:132897292

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA375368832

rs_1212768461

4 SubmittersRCV000642040 RCV002440290 RCV003313121 RCV006552590

NM_000368.5(TSC1):c.1208C>A (p.Ser403Ter)

SNV
Germline

Chr9:132910626

Pathogenic

Tuberous sclerosis 1

Criteria Provided
Single Submitter

CA375366947

rs_118203504

1 SubmittersRCV000642033

NM_000368.5(TSC1):c.792G>A (p.Leu264=)

SNV
Germline

Chr9:132912403

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA467593591

rs_1257538409

7 SubmittersRCV000642028 RCV002257897 RCV004692008 RCV004802325

NM_000368.5(TSC1):c.289A>G (p.Ile97Val)

SNV
Germline

Chr9:132925661

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA034962

rs_138541569

5 SubmittersRCV000642054 RCV001016847 RCV004003971

NM_000368.5(TSC1):c.106+5G>A

SNV
Germline

Chr9:132928762

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA658797333

rs_1554820973

3 SubmittersRCV000641966 RCV003162893 RCV004003953

NM_000368.5(TSC1):c.106+2T>C

SNV
Germline

Chr9:132928765

Likely pathogenic

Tuberous sclerosis 1

Criteria Provided
Single Submitter

CA375375246

rs_1554820976

1 SubmittersRCV000642031

NM_000548.5(TSC2):c.98G>A (p.Gly33Asp)

SNV
Germline

Chr16:2048713

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394301452

rs_1352220583

3 SubmittersRCV000644123 RCV002386073 RCV004003998

NM_000548.5(TSC2):c.131T>C (p.Ile44Thr)

SNV
Germline

Chr16:2048746

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394301782

rs_1190102918

7 SubmittersRCV000644150 RCV001010984 RCV004777795 RCV006552598

NM_000548.5(TSC2):c.585C>T (p.Ile195=)

SNV
Germline

Chr16:2055505

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA055446

rs_397515309

6 SubmittersRCV000644401 RCV002358837 RCV002499098 RCV004004049 RCV006270414

NM_000548.5(TSC2):c.743A>G (p.Asn248Ser)

SNV
Germline

Chr16:2056738

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA056283

rs_762104739

6 SubmittersRCV000644409 RCV001026437 RCV003328614

NM_000548.5(TSC2):c.74G>A (p.Arg25Lys)

SNV
Germline

Chr16:2048689

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA056318

rs_759867905

2 SubmittersRCV000644165 RCV002388092

NM_000548.5(TSC2):c.199G>A (p.Val67Ile)

SNV
Germline

Chr16:2050460

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA035477

rs_774506901

4 SubmittersRCV000644157 RCV002422324 RCV004004003 RCV004808820

NM_000548.5(TSC2):c.1643G>C (p.Arg548Thr)

SNV
Germline

Chr16:2065562

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
TSC2-related disorder
Tuberous sclerosis syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA276731085

rs_748938385

6 SubmittersRCV000644074 RCV001012511 RCV004527705 RCV004003987 RCV005256660

NM_000548.5(TSC2):c.1823G>C (p.Ser608Thr)

SNV
Germline

Chr16:2070562

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA033723

rs_753235037

4 SubmittersRCV000644072 RCV001013270 RCV004003986

NM_000548.5(TSC2):c.385G>T (p.Asp129Tyr)

SNV
Germline

Chr16:2054344

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA048912

rs_771961048

4 SubmittersRCV000644250 RCV002358834 RCV006552603

NM_000548.5(TSC2):c.2020C>T (p.Pro674Ser)

SNV
Germline

Chr16:2071857

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA035778

rs_760566516

5 SubmittersRCV000644209 RCV002255485 RCV004004014

NM_000548.5(TSC2):c.2023G>T (p.Ala675Ser)

SNV
Germline

Chr16:2071860

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA276737715

rs_764840082

5 SubmittersRCV000644078 RCV000765268 RCV001014102 RCV004003988

NM_000548.5(TSC2):c.864C>G (p.Asp288Glu)

SNV
Germline

Chr16:2058762

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA276775635

rs_780887572

4 SubmittersRCV000644160 RCV002369704 RCV004004005

NM_000548.5(TSC2):c.1304A>T (p.His435Leu)

SNV
Germline

Chr16:2062543

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394322184

rs_1555501389

2 SubmittersRCV000644208 RCV002386074

NM_000548.5(TSC2):c.2252G>A (p.Arg751Gln)

SNV
Germline

Chr16:2072880

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
TSC2-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA276740000

rs_749593050

8 SubmittersRCV000644106 RCV000765269 RCV001014943 RCV001580527 RCV004735702 RCV005240378

NM_000548.5(TSC2):c.1625C>T (p.Pro542Leu)

SNV
Germline

Chr16:2065544

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome
TSC2-related disorder
Lymphangiomyomatosis
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA031818

rs_764191178

9 SubmittersRCV000644187 RCV001771884 RCV002397241 RCV003459537 RCV004004012 RCV004544866 RCV005019074

NM_000548.5(TSC2):c.1651G>T (p.Ala551Ser)

SNV
Germline

Chr16:2065570

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA031983

rs_149877669

2 SubmittersRCV000644177 RCV006287216

NM_000548.5(TSC2):c.2854C>T (p.Pro952Ser)

SNV
Germline

Chr16:2077614

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA042455

rs_745456980

4 SubmittersRCV000644203 RCV002440302 RCV005019075 RCV006552602

NM_000548.5(TSC2):c.1759T>C (p.Tyr587His)

SNV
Germline

Chr16:2070498

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394272833

rs_1555505094

3 SubmittersRCV000644100 RCV002397240 RCV004003993

NM_000548.5(TSC2):c.1964C>T (p.Ser655Phe)

SNV
Germline

Chr16:2071801

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394273620

rs_1442388532

2 SubmittersRCV000644259 RCV005298561

NM_000548.5(TSC2):c.2012G>A (p.Gly671Asp)

SNV
Germline

Chr16:2071849

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA035599

rs_775881847

6 SubmittersRCV000644122 RCV001014079 RCV002499096 RCV004802332

NM_000548.5(TSC2):c.3467C>T (p.Pro1156Leu)

SNV
Germline

Chr16:2080234

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA046958

rs_144126969

4 SubmittersRCV000644147 RCV002285386 RCV002460101 RCV004004002

NM_000548.5(TSC2):c.2097+5G>C

SNV
Germline

Chr16:2071939

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Lymphangiomyomatosis
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA276737905

rs_977777731

6 SubmittersRCV000644073 RCV001014417 RCV003327437 RCV005019069 RCV006552596

NM_000548.5(TSC2):c.2137C>T (p.Leu713=)

SNV
Germline

Chr16:2072280

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA493042672

rs_1555506453

3 SubmittersRCV000644278 RCV003162917 RCV006260938

NM_000548.5(TSC2):c.2221-6C>T

SNV
Germline

Chr16:2072843

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA658798491

rs_1555506823

3 SubmittersRCV001463963 RCV002257899

NM_000548.5(TSC2):c.2245C>T (p.Arg749Trp)

SNV
Germline

Chr16:2072873

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA037721

rs_377397369

6 SubmittersRCV000644353 RCV001558093 RCV002422327 RCV004004042

NM_000548.5(TSC2):c.3814+5G>A

SNV
Germline

Chr16:2081803

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Lymphangiomyomatosis
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA658798471

rs_1555512582

4 SubmittersRCV000644087 RCV003303039 RCV004003990 RCV005019070

NM_000548.5(TSC2):c.3851A>G (p.Gln1284Arg)

SNV
Germline

Chr16:2082472

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Lymphangiomyomatosis
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA276750917

rs_944693159

5 SubmittersRCV000644199 RCV002493023 RCV002358833 RCV004802335

NM_000548.5(TSC2):c.3985C>T (p.Arg1329Cys)

SNV
Germline

Chr16:2083796

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
TSC2-related disorder
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA049839

rs_747695245

5 SubmittersRCV000644155 RCV001021583 RCV004735704 RCV006552600

NM_000548.5(TSC2):c.4040T>C (p.Leu1347Pro)

SNV
Germline

Chr16:2084262

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA394299288

rs_1221929408

3 SubmittersRCV000644212 RCV002325262 RCV004808821

NM_000548.5(TSC2):c.2825A>G (p.Glu942Gly)

SNV
Germline

Chr16:2076573

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA276742132

rs_1018951391

4 SubmittersRCV000644215 RCV001016700 RCV004802336

NM_000548.5(TSC2):c.3285-5C>T

SNV
Germline

Chr16:2079552

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA620377851

rs_1444989940

4 SubmittersRCV000644273 RCV002449028 RCV004004027

NM_000548.5(TSC2):c.4369C>T (p.Arg1457Trp)

SNV
Germline

Chr16:2084591

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Lymphangiomyomatosis
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA051001

rs_746729857

3 SubmittersRCV000644088 RCV002483857 RCV005502858

NM_000548.5(TSC2):c.4432G>A (p.Asp1478Asn)

SNV
Germline

Chr16:2084654

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Vascular dementia
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394302242

rs_45517343

4 SubmittersRCV000644237 RCV002051724 RCV002331192 RCV004004022

NM_000548.5(TSC2):c.4069A>C (p.Ile1357Leu)

SNV
Germline

Chr16:2084291

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394299395

rs_1555513920

7 SubmittersRCV000644244 RCV002260653 RCV002325264 RCV004004024

NM_000548.5(TSC2):c.4078G>A (p.Glu1360Lys)

SNV
Germline

Chr16:2084300

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA050377

rs_397514997

6 SubmittersRCV000644152 RCV003162911 RCV006552599

NM_000548.5(TSC2):c.4506G>A (p.Leu1502=)

SNV
Germline

Chr16:2084963

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA493043362

rs_1555514870

5 SubmittersRCV001442159 RCV004773065 RCV005298562 RCV006552611

NM_000548.5(TSC2):c.4864G>A (p.Ala1622Thr)

SNV
Germline

Chr16:2086746

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA052965

rs_769913589

6 SubmittersRCV000644406 RCV001023169 RCV004004050

NM_000548.5(TSC2):c.5068G>A (p.Asp1690Asn)

SNV
Germline

Chr16:2087941

Conflicting classifications of pathogenicity

Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA394311729

rs_137854882

2 SubmittersRCV000644178

NM_000548.5(TSC2):c.5076G>C (p.Glu1692Asp)

SNV
Germline

Chr16:2088055

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394311952

rs_1358186613

3 SubmittersRCV000644156 RCV001023500

NM_000548.5(TSC2):c.5119A>C (p.Asn1707His)

SNV
Germline

Chr16:2088098

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA394312361

rs_1300582033

3 SubmittersRCV000644060 RCV002343302 RCV003465404

NM_000548.5(TSC2):c.5176C>T (p.His1726Tyr)

SNV
Germline

Chr16:2088242

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA054330

rs_761618860

2 SubmittersRCV000644161 RCV002334132

NM_000548.5(TSC2):c.4362T>G (p.Ser1454Arg)

SNV
Germline

Chr16:2084584

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA394301688

rs_1320400029

4 SubmittersRCV000644067 RCV002256435 RCV003153783

NM_000548.5(TSC2):c.4403C>T (p.Pro1468Leu)

SNV
Germline

Chr16:2084625

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA051050

rs_762423563

2 SubmittersRCV000644171 RCV002331190

NM_000548.5(TSC2):c.5264G>T (p.Cys1755Phe)

SNV
Germline

Chr16:2088450

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA394315042

rs_761162904

3 SubmittersRCV000644184 RCV002334133 RCV006260936

NM_000548.5(TSC2):c.5276C>T (p.Ala1759Val)

SNV
Germline

Chr16:2088462

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA054932

rs_45477298

6 SubmittersRCV001023842 RCV001513329 RCV004004052

NM_000548.5(TSC2):c.4585C>T (p.Arg1529Trp)

SNV
Germline

Chr16:2085245

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA276754888

rs_1051502900

4 SubmittersRCV000644320 RCV002334136 RCV004004037

NM_000548.5(TSC2):c.4678G>A (p.Ala1560Thr)

SNV
Germline

Chr16:2086208

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Ovarian cancer
Tuberous sclerosis syndrome
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA052272

rs_777539610

8 SubmittersRCV000644117 RCV001022882 RCV001766382 RCV003153784 RCV004003996 RCV004568427

NM_000548.5(TSC2):c.5024C>A (p.Pro1675Gln)

SNV
Germline

Chr16:2087897

Pathogenic/Likely pathogenic

Tuberous sclerosis 2
Tuberous sclerosis syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA394311256

rs_45483392

4 SubmittersRCV000644091 RCV000984876 RCV005000444

NM_000548.5(TSC2):c.5246G>A (p.Arg1749Gln)

SNV
Germline

Chr16:2088312

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Lymphangiomyomatosis
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA394314713

rs_1555440785

4 SubmittersRCV000644233 RCV002343306 RCV004004021 RCV005019078

NM_000548.5(TSC2):c.169C>T (p.Arg57Cys)

SNV
Germline

Chr16:2050430

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA394303257

rs_1430159201

4 SubmittersRCV000644128 RCV001012687 RCV002307571

NM_000548.5(TSC2):c.5297C>T (p.Pro1766Leu)

SNV
Germline

Chr16:2088483

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Lymphangiomyomatosis
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA276759930

rs_748936673

8 SubmittersRCV000644107 RCV001568107 RCV002343304 RCV004003995 RCV005019071

NM_000548.5(TSC2):c.475G>T (p.Glu159Ter)

SNV
Germline

Chr16:2054434

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394308572

rs_1555497714

1 SubmittersRCV000644141

NM_000548.5(TSC2):c.1015G>A (p.Val339Ile)

SNV
Germline

Chr16:2060709

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
TSC2-related disorder
Tuberous sclerosis syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA276776626

rs_559727962

7 SubmittersRCV000644222 RCV001017006 RCV004533366 RCV004004017 RCV006260937

NM_000548.5(TSC2):c.1096G>C (p.Glu366Gln)

SNV
Germline

Chr16:2060790

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA276776700

rs_45517148

5 SubmittersRCV000644146 RCV002282288 RCV002424465 RCV002483858 RCV004004001

NM_000548.5(TSC2):c.2668C>T (p.His890Tyr)

SNV
Germline

Chr16:2076096

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA040850

rs_145258407

6 SubmittersRCV000644267 RCV001016255 RCV002264970 RCV004004025

NM_000548.5(TSC2):c.2674G>A (p.Val892Ile)

SNV
Germline

Chr16:2076102

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA276741706

rs_376801256

4 SubmittersRCV000644069 RCV002424462 RCV004003985

NM_000548.5(TSC2):c.2742+3G>A

SNV
Germline

Chr16:2076173

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA041345

rs_373935836

5 SubmittersRCV000644071 RCV001016464 RCV005401549

NM_000548.5(TSC2):c.3240A>C (p.Leu1080Phe)

SNV
Germline

Chr16:2079384

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
not specified

Criteria Provided
Conflicting Classifications

CA044925

rs_371514669

7 SubmittersRCV000644134 RCV002449026 RCV003128676 RCV004003999 RCV006268913

NM_000548.5(TSC2):c.3380G>A (p.Arg1127Gln)

SNV
Germline

Chr16:2079652

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA046441

rs_746197874

6 SubmittersRCV000644263 RCV000765272 RCV001020148 RCV003222074

NM_000548.5(TSC2):c.3809A>G (p.Asn1270Ser)

SNV
Germline

Chr16:2081793

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394293642

rs_1304251276

4 SubmittersRCV000644144 RCV002358832 RCV004004000

NM_000548.5(TSC2):c.4249C>T (p.Arg1417Trp)

SNV
Germline

Chr16:2084471

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Lymphangiomyomatosis
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA050704

rs_774338461

4 SubmittersRCV000644231 RCV002331191 RCV004773064 RCV005019077

NM_000548.5(TSC2):c.4520C>A (p.Ser1507Tyr)

SNV
Germline

Chr16:2084977

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA051496

rs_746246149

5 SubmittersRCV000644095 RCV002331186 RCV004003991

NM_000548.5(TSC2):c.4621G>A (p.Asp1541Asn)

SNV
Germline

Chr16:2085281

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome
TSC2-related disorder

Criteria Provided
Conflicting Classifications

CA276754962

rs_796872464

8 SubmittersRCV000644241 RCV001022800 RCV003225106 RCV003465408 RCV004004023 RCV004533367

NM_000548.5(TSC2):c.4861A>T (p.Ile1621Phe)

SNV
Germline

Chr16:2086743

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394308263

rs_1555516628

2 SubmittersRCV000644202 RCV006287218

NM_000548.5(TSC2):c.5200G>A (p.Asp1734Asn)

SNV
Germline

Chr16:2088266

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
TSC2-related disorder

Criteria Provided
Conflicting Classifications

CA054398

rs_751990617

6 SubmittersRCV000644311 RCV001023719 RCV003456111 RCV004735705

NM_000548.5(TSC2):c.5254C>G (p.Gln1752Glu)

SNV
Germline

Chr16:2088320

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA394314782

rs_45517414

5 SubmittersRCV000644101 RCV002334131 RCV003459535 RCV004003994 RCV005639168

NM_000548.5(TSC2):c.205A>G (p.Lys69Glu)

SNV
Germline

Chr16:2050466

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA036103

rs_45517095

2 SubmittersRCV000644149 RCV003303040

NM_000548.5(TSC2):c.5413G>A (p.Glu1805Lys)

SNV
Germline

Chr16:2088599

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
TSC2-related disorder

Criteria Provided
Conflicting Classifications

CA055360

rs_376017665

8 SubmittersRCV000644386 RCV001024065 RCV001119439 RCV004533370

NM_000548.5(TSC2):c.336+1G>C

SNV
Germline

Chr16:2053453

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394306095

rs_45517102

1 SubmittersRCV000644166

NM_000548.5(TSC2):c.440C>A (p.Thr147Lys)

SNV
Germline

Chr16:2054399

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394308347

rs_1555497690

1 SubmittersRCV000644114

NM_000548.5(TSC2):c.464A>G (p.Tyr155Cys)

SNV
Germline

Chr16:2054423

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA052014

rs_755177576

5 SubmittersRCV000644170 RCV001022839 RCV004004007 RCV005416379

NM_000548.5(TSC2):c.484G>A (p.Asp162Asn)

SNV
Germline

Chr16:2055404

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394309028

rs_1257721773

4 SubmittersRCV000644082 RCV001023148 RCV004003989

NM_000548.5(TSC2):c.775-5C>G

SNV
Germline

Chr16:2057100

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA658798477

rs_181827303

3 SubmittersRCV000644330 RCV002258986

NM_000548.5(TSC2):c.849-3T>C

SNV
Germline

Chr16:2058744

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA658798478

rs_45489591

3 SubmittersRCV000644159 RCV003162912

NM_000548.5(TSC2):c.1007A>G (p.Tyr336Cys)

SNV
Germline

Chr16:2060701

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
TSC2-related disorder

Criteria Provided
Conflicting Classifications

CA027968

rs_780378198

5 SubmittersRCV000644115 RCV002424464 RCV004802330 RCV004735703

NM_000548.5(TSC2):c.1739C>G (p.Ala580Gly)

SNV
Germline

Chr16:2070478

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Lymphangiomyomatosis
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA033236

rs_765043471

3 SubmittersRCV000644096 RCV002493022 RCV004025654

NM_000548.5(TSC2):c.1914G>A (p.Val638=)

SNV
Germline

Chr16:2071584

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA276737342

rs_933464584

5 SubmittersRCV000644343 RCV001013680 RCV006552609

NM_000548.5(TSC2):c.1946+9G>T

SNV
Germline

Chr16:2071625

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis

Criteria Provided
Conflicting Classifications

CA620705991

rs_1470276886

3 SubmittersRCV000644139 RCV003465407 RCV005019073

NM_000548.5(TSC2):c.1993C>G (p.Pro665Ala)

SNV
Germline

Chr16:2071830

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA394274414

rs_1184908674

7 SubmittersRCV000644337 RCV001013956 RCV004802337 RCV006260939

NM_000548.5(TSC2):c.2039G>T (p.Arg680Leu)

SNV
Germline

Chr16:2071876

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394274563

rs_756536921

7 SubmittersRCV000644230 RCV001014160 RCV002282289 RCV003459538 RCV004004020

NM_000548.5(TSC2):c.2297T>C (p.Val766Ala)

SNV
Germline

Chr16:2072925

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA038262

rs_780682938

7 SubmittersRCV000644214 RCV001087283 RCV002449027 RCV004004015

NM_000548.5(TSC2):c.2838-3T>C

SNV
Germline

Chr16:2077595

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA042338

rs_553942147

8 SubmittersRCV000644347 RCV002256437 RCV004004040 RCV005000446

NM_000548.5(TSC2):c.3131+3C>A

SNV
Germline

Chr16:2079199

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA620704907

rs_1420280878

6 SubmittersRCV000644116 RCV002325261 RCV004525994 RCV005000445 RCV006552597

NM_000548.5(TSC2):c.3286T>C (p.Ser1096Pro)

SNV
Germline

Chr16:2079558

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA045529

rs_755815612

4 SubmittersRCV000644065 RCV002449025 RCV004003984 RCV004773062

NM_000548.5(TSC2):c.3304G>A (p.Val1102Met)

SNV
Germline

Chr16:2079576

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome
Lymphangiomyomatosis
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA045672

rs_775584262

8 SubmittersRCV000644133 RCV001019823 RCV001756075 RCV003459536 RCV004802334 RCV005019072

NM_000548.5(TSC2):c.3386G>A (p.Arg1129His)

SNV
Germline

Chr16:2079658

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided
Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394286758

rs_1412967226

5 SubmittersRCV000644221 RCV001565707 RCV004004016 RCV005502860

NM_000548.5(TSC2):c.3509C>T (p.Ser1170Leu)

SNV
Germline

Chr16:2080276

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394289260

rs_45517296

3 SubmittersRCV000644185 RCV003162914 RCV004004011

NM_000548.5(TSC2):c.3586G>T (p.Glu1196Ter)

SNV
Germline

Chr16:2080353

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394289668

rs_1555511585

1 SubmittersRCV000644093

NM_000548.5(TSC2):c.3644C>T (p.Pro1215Leu)

SNV
Germline

Chr16:2081628

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Condition: not provided

Criteria Provided
Conflicting Classifications

CA276749978

rs_933257311

4 SubmittersRCV000644090 RCV002343303 RCV003465405 RCV006277968

NM_000548.5(TSC2):c.3965C>T (p.Ala1322Val)

SNV
Germline

Chr16:2083776

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA394297498

rs_1380402492

3 SubmittersRCV000644248 RCV005502861 RCV005392212

NM_000548.5(TSC2):c.4265C>T (p.Thr1422Ile)

SNV
Germline

Chr16:2084487

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA050727

rs_760230300

3 SubmittersRCV000644129 RCV003338711 RCV004802333

NM_000548.5(TSC2):c.4454C>T (p.Thr1485Ile)

SNV
Germline

Chr16:2084676

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA051214

rs_772667717

3 SubmittersRCV000644158 RCV002331189 RCV004004004

NM_000548.5(TSC2):c.4463A>G (p.Asn1488Ser)

SNV
Germline

Chr16:2084685

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA276753586

rs_999699219

2 SubmittersRCV000644143 RCV002331187

NM_000548.5(TSC2):c.4711T>C (p.Tyr1571His)

SNV
Germline

Chr16:2086241

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394307381

rs_397514905

1 SubmittersRCV000644175

NM_000548.5(TSC2):c.4260A>G (p.Ser1420=)

SNV
Germline

Chr16:2084482

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA493043384

rs_1285012780

7 SubmittersRCV000658731 RCV001087296 RCV002331290 RCV004004194

NM_000368.5(TSC1):c.1029+3A>G

SNV
Germline

Chr9:132911450

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA658822160

rs_1554817334

5 SubmittersRCV000660335 RCV002477474 RCV003303090

NM_000368.5(TSC1):c.982C>T (p.Gln328Ter)

SNV
Germline

Chr9:132911500

Pathogenic/Likely pathogenic

Tuberous sclerosis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA375368627

rs_1554817388

4 SubmittersRCV000660333

NM_000368.5(TSC1):c.509-1G>A

SNV
Germline

Chr9:132921974

Pathogenic/Likely pathogenic

Tuberous sclerosis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA375372966

rs_1554819620

2 SubmittersRCV000660330

NM_000548.5(TSC2):c.649-1G>A

SNV
Germline

Chr16:2056643

Likely pathogenic

Tuberous sclerosis 2
Tuberous sclerosis syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA394312281

rs_794727906

4 SubmittersRCV000660340 RCV005407850 RCV005235460

NM_000548.5(TSC2):c.4919A>G (p.His1640Arg)

SNV
Germline

Chr16:2086801

Likely pathogenic

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA394308553

rs_794727602

2 SubmittersRCV000660350 RCV002334225

NM_000368.5(TSC1):c.3181A>G (p.Ser1061Gly)

SNV
Germline

Chr9:132896549

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA375367118

rs_1203493016

2 SubmittersRCV000694102 RCV002325390

NM_000368.5(TSC1):c.3010A>G (p.Met1004Val)

SNV
Germline

Chr9:132896720

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA375367929

rs_371879917

6 SubmittersRCV000692962 RCV002440461 RCV003238182 RCV003999591

NM_000368.5(TSC1):c.2677A>C (p.Ser893Arg)

SNV
Germline

Chr9:132897559

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA375369518

rs_1396314595

4 SubmittersRCV000688397 RCV002424599 RCV005046929 RCV006552692

NM_000368.5(TSC1):c.2299C>G (p.Gln767Glu)

SNV
Germline

Chr9:132902697

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA375359665

rs_118203675

3 SubmittersRCV000693569 RCV002458242 RCV003472211

NM_000368.5(TSC1):c.1591G>A (p.Val531Met)

SNV
Germline

Chr9:132905987

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA029167

rs_377279170

7 SubmittersRCV000689795 RCV002256467 RCV005431875 RCV004997153 RCV006552696

NM_000368.5(TSC1):c.871G>A (p.Asp291Asn)

SNV
Germline

Chr9:132912324

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA039276

rs_755195460

3 SubmittersRCV000706620 RCV002442537 RCV003999776

NM_000368.5(TSC1):c.738-1G>A

SNV
Germline

Chr9:132912458

Pathogenic

Tuberous sclerosis 1

Criteria Provided
Single Submitter

CA375369754

rs_1564490210

1 SubmittersRCV000702420

NM_000368.5(TSC1):c.331C>T (p.Pro111Ser)

SNV
Germline

Chr9:132925619

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA036438

rs_748669519

7 SubmittersRCV000828016 RCV001019978 RCV001085615 RCV004004251

NM_000368.5(TSC1):c.3215C>T (p.Ala1072Val)

SNV
Germline

Chr9:132896515

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA200925500

rs_779369226

4 SubmittersRCV000690055 RCV003163141 RCV003999538

NM_000368.5(TSC1):c.2933T>C (p.Leu978Pro)

SNV
Germline

Chr9:132897226

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA375368431

rs_770834438

4 SubmittersRCV000698701 RCV004678798 RCV006270424

NM_000368.5(TSC1):c.2890G>A (p.Asp964Asn)

SNV
Germline

Chr9:132897269

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA200926420

rs_1033463168

3 SubmittersRCV000689051 RCV001016888

NM_000368.5(TSC1):c.2626-2A>C

SNV
Germline

Chr9:132897612

Pathogenic/Likely pathogenic

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA033791

rs_118203717

3 SubmittersRCV000699092 RCV003163230 RCV004017720

NM_000368.5(TSC1):c.2488C>T (p.Gln830Ter)

SNV
Germline

Chr9:132901603

Pathogenic

Tuberous sclerosis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA375358269

rs_1564475884

2 SubmittersRCV000689532

NM_000368.5(TSC1):c.2459A>G (p.Lys820Arg)

SNV
Germline

Chr9:132901632

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA375358333

rs_1369700443

4 SubmittersRCV000705362 RCV001015606 RCV001167132

NM_000368.5(TSC1):c.2357G>A (p.Arg786Gln)

SNV
Germline

Chr9:132902639

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA375359294

rs_1336228562

6 SubmittersRCV000690186 RCV004686603 RCV004808842 RCV004802361

NM_000368.5(TSC1):c.1744A>G (p.Thr582Ala)

SNV
Germline

Chr9:132905834

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA375363834

rs_1564481573

2 SubmittersRCV000695932 RCV002397422

NM_000368.5(TSC1):c.1291T>C (p.Cys431Arg)

SNV
Germline

Chr9:132907343

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Tuberous sclerosis 1

Criteria Provided
Conflicting Classifications

CA200890000

rs_762688935

5 SubmittersRCV000693071 RCV002386204 RCV003459692 RCV003999593 RCV005046940

NM_000368.5(TSC1):c.903G>C (p.Gln301His)

SNV
Germline

Chr9:132912292

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA039389

rs_762200890

3 SubmittersRCV000701891 RCV003303179 RCV004802389

NM_000368.5(TSC1):c.569G>A (p.Arg190His)

SNV
Germline

Chr9:132921913

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA038150

rs_118203402

3 SubmittersRCV000685265 RCV001024421

NM_000368.5(TSC1):c.3364G>A (p.Gly1122Ser)

SNV
Germline

Chr9:132896366

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA036652

rs_760918561

4 SubmittersRCV000692725 RCV001020100 RCV004997165

NM_000368.5(TSC1):c.2686C>A (p.Leu896Ile)

SNV
Germline

Chr9:132897550

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA034289

rs_377132822

3 SubmittersRCV000698168 RCV002256478

NM_000368.5(TSC1):c.2392-5G>A

SNV
Germline

Chr9:132901704

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA860668820

rs_1463016849

2 SubmittersRCV000695276 RCV002424655

NM_000368.5(TSC1):c.2018C>A (p.Ser673Tyr)

SNV
Germline

Chr9:132904434

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA030627

rs_774835995

4 SubmittersRCV000705976 RCV001014066 RCV004997213

NM_000368.5(TSC1):c.1340C>T (p.Pro447Leu)

SNV
Germline

Chr9:132906829

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA028393

rs_772868048

4 SubmittersRCV000685757 RCV002386164 RCV004004235

NM_000368.5(TSC1):c.826T>C (p.Ser276Pro)

SNV
Germline

Chr9:132912369

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA039128

rs_774009225

4 SubmittersRCV000688164 RCV000999260 RCV005762074

NM_000368.5(TSC1):c.266T>C (p.Ile89Thr)

SNV
Germline

Chr9:132925684

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA375374658

rs_1564501791

3 SubmittersRCV000693606 RCV002424643 RCV004702333

NM_000548.5(TSC2):c.229G>A (p.Ala77Thr)

SNV
Germline

Chr16:2053345

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA038299

rs_777459404

7 SubmittersRCV000699574 RCV001756222 RCV003163237 RCV006552748

NM_000548.5(TSC2):c.745G>A (p.Val249Ile)

SNV
Germline

Chr16:2056740

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA056300

rs_750649974

5 SubmittersRCV000703235 RCV001026461 RCV003999738 RCV005235471

NM_000548.5(TSC2):c.745G>C (p.Val249Leu)

SNV
Germline

Chr16:2056740

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA056308

rs_750649974

5 SubmittersRCV000691727 RCV001026462 RCV003999567

NM_000548.5(TSC2):c.827T>C (p.Met276Thr)

SNV
Germline

Chr16:2057157

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394313323

rs_1281538226

2 SubmittersRCV000705751 RCV003303190

NM_000548.5(TSC2):c.1375G>T (p.Gly459Cys)

SNV
Germline

Chr16:2062985

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394323645

rs_1567432890

4 SubmittersRCV000706736 RCV001011225 RCV004802400

NM_000548.5(TSC2):c.1463T>C (p.Val488Ala)

SNV
Germline

Chr16:2064291

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394325631

rs_760205499

6 SubmittersRCV000688452 RCV001011705 RCV003332229 RCV003489808 RCV006552693

NM_000548.5(TSC2):c.2838-122G>A

SNV
Germline

Chr16:2077476

Pathogenic

Tuberous sclerosis 2
Cortical tubers
Neoplasm
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA891843876

rs_1567489890

6 SubmittersRCV000691799 RCV001003985 RCV001584566 RCV002440452 RCV005357922

NM_000548.5(TSC2):c.2954A>G (p.His985Arg)

SNV
Germline

Chr16:2077714

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA394281541

rs_1330306605

4 SubmittersRCV000696995 RCV001017661 RCV003320729

NM_000548.5(TSC2):c.3314C>T (p.Thr1105Ile)

SNV
Germline

Chr16:2079586

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA276746101

rs_946381749

6 SubmittersRCV000691658 RCV002507202 RCV003303128 RCV003442024 RCV003999565

NM_000548.5(TSC2):c.3530T>A (p.Val1177Glu)

SNV
Germline

Chr16:2080297

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394289391

rs_1567504468

2 SubmittersRCV000690319 RCV002458225

NM_000548.5(TSC2):c.3538A>G (p.Lys1180Glu)

SNV
Germline

Chr16:2080305

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA047382

rs_751708490

9 SubmittersRCV000700174 RCV001020551 RCV001592895 RCV003999702

NM_000548.5(TSC2):c.4142C>A (p.Pro1381His)

SNV
Germline

Chr16:2084364

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394299641

rs_397515264

2 SubmittersRCV000700667 RCV003303175

NM_000548.5(TSC2):c.4418A>G (p.Lys1473Arg)

SNV
Germline

Chr16:2084640

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Vesicoureteral reflux 8

Criteria Provided
Conflicting Classifications

CA394302120

rs_1219556604

7 SubmittersRCV000713937 RCV001087681 RCV003303133 RCV003999573 RCV005863249

NM_000548.5(TSC2):c.4460C>G (p.Ser1487Cys)

SNV
Germline

Chr16:2084682

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA051248

rs_766916450

3 SubmittersRCV000691941 RCV002332432 RCV002485649

NM_000548.5(TSC2):c.5029G>A (p.Asp1677Asn)

SNV
Germline

Chr16:2087902

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394311288

rs_1163037065

4 SubmittersRCV000698973 RCV001771980 RCV002334340

NM_000548.5(TSC2):c.5069-5C>T

SNV
Germline

Chr16:2088043

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA053871

rs_762149472

4 SubmittersRCV000706873 RCV001023491

NM_000548.5(TSC2):c.5329C>T (p.Pro1777Ser)

SNV
Germline

Chr16:2088515

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA055123

rs_781226141

6 SubmittersRCV000698185 RCV001023931 RCV003999676

NM_000548.5(TSC2):c.5332G>A (p.Ala1778Thr)

SNV
Germline

Chr16:2088518

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA16622078

rs_1245934608

7 SubmittersRCV000731210 RCV001080512 RCV002255508 RCV003999574

NM_000368.5(TSC1):c.3000C>G (p.Cys1000Trp)

SNV
Germline

Chr9:132896730

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
TSC1-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA035574

rs_552217429

5 SubmittersRCV000688208 RCV004004278 RCV003372807 RCV004723070 RCV005251169

NM_000368.5(TSC1):c.2625+367A>G

SNV
Germline

Chr9:132900348

Pathogenic/Likely pathogenic

Tuberous sclerosis 1
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA891843350

rs_1564474542

3 SubmittersRCV000705549 RCV001726314 RCV005357946

NM_000368.5(TSC1):c.2380C>A (p.Gln794Lys)

SNV
Germline

Chr9:132902616

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Lymphangiomyomatosis
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA032232

rs_781371665

5 SubmittersRCV000704242 RCV002311991 RCV003999749 RCV005046962

NM_000368.5(TSC1):c.1562C>G (p.Ser521Trp)

SNV
Germline

Chr9:132906016

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA375365080

rs_759379027

3 SubmittersRCV000695085 RCV004025228 RCV006552724

NM_000368.5(TSC1):c.1453G>T (p.Glu485Ter)

SNV
Germline

Chr9:132906125

Pathogenic

Tuberous sclerosis 1

Criteria Provided
Single Submitter

CA375365570

rs_1564482622

1 SubmittersRCV000693592

NM_000368.5(TSC1):c.1232T>A (p.Leu411His)

SNV
Germline

Chr9:132910602

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA200893811

rs_140410001

2 SubmittersRCV000687786 RCV004026275

NM_000368.5(TSC1):c.1190C>T (p.Pro397Leu)

SNV
Germline

Chr9:132910644

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA027226

rs_766487204

4 SubmittersRCV000699455 RCV002257943 RCV006552747

NM_000368.5(TSC1):c.938C>T (p.Ser313Phe)

SNV
Germline

Chr9:132911544

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA039798

rs_766317920

6 SubmittersRCV000706334 RCV002442534 RCV003424301 RCV006552779

NM_000368.5(TSC1):c.931C>G (p.Pro311Ala)

SNV
Germline

Chr9:132911551

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Condition: not provided
Hereditary cancer-predisposing syndrome
TSC1-related disorder

Criteria Provided
Conflicting Classifications

CA375368729

rs_1332186256

4 SubmittersRCV000696695 RCV003235358 RCV003163204 RCV003892553

NM_000368.5(TSC1):c.737+2T>C

SNV
Germline

Chr9:132921361

Pathogenic/Likely pathogenic

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA375371174

rs_1564497308

2 SubmittersRCV000704624 RCV002386267

NM_000548.5(TSC2):c.89C>G (p.Ser30Cys)

SNV
Germline

Chr16:2048704

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA394301392

rs_1425163522

6 SubmittersRCV000699032 RCV002256480 RCV004569356 RCV004802380 RCV006261001

NM_000548.5(TSC2):c.139-1G>A

SNV
Germline

Chr16:2050399

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA394303045

rs_1567386603

3 SubmittersRCV000702898

NM_000548.5(TSC2):c.256G>A (p.Ala86Thr)

SNV
Germline

Chr16:2053372

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
TSC2-related disorder

Criteria Provided
Conflicting Classifications

CA394305566

rs_1190158836

6 SubmittersRCV000696894 RCV001564684 RCV002255512 RCV004535735

NM_000548.5(TSC2):c.504G>T (p.Met168Ile)

SNV
Germline

Chr16:2055424

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA053610

rs_748692173

2 SubmittersRCV000701409 RCV004948616

NM_000548.5(TSC2):c.1172T>C (p.Val391Ala)

SNV
Germline

Chr16:2061923

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394320356

rs_1414372155

2 SubmittersRCV000704181 RCV002332498

NM_000548.5(TSC2):c.1364G>A (p.Ser455Asn)

SNV
Germline

Chr16:2062974

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA394323563

rs_1567432782

3 SubmittersRCV000691063 RCV002386192 RCV005367504

NM_000548.5(TSC2):c.1658A>G (p.Tyr553Cys)

SNV
Germline

Chr16:2065577

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394268052

rs_1319281731

3 SubmittersRCV000698725 RCV002259006

NM_000548.5(TSC2):c.1870G>A (p.Asp624Asn)

SNV
Germline

Chr16:2071540

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA394273084

rs_1334081822

5 SubmittersRCV000700692 RCV000765266 RCV002406622 RCV004768588

NM_000548.5(TSC2):c.1930T>G (p.Cys644Gly)

SNV
Germline

Chr16:2071600

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394273325

rs_1567462577

3 SubmittersRCV000692026 RCV002473112 RCV005762077

NM_000548.5(TSC2):c.2122C>A (p.Leu708Met)

SNV
Germline

Chr16:2072265

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA394274796

rs_778040604

6 SubmittersRCV000693891 RCV000993368 RCV002422512 RCV003465588

NM_000548.5(TSC2):c.2218A>G (p.Met740Val)

SNV
Germline

Chr16:2072361

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA276738450

rs_757345150

6 SubmittersRCV000691766 RCV000722723 RCV002424627 RCV002485648 RCV004802365

NM_000548.5(TSC2):c.2242G>A (p.Glu748Lys)

SNV
Germline

Chr16:2072870

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA394276291

rs_1442440961

6 SubmittersRCV000690575 RCV001014906 RCV003999549 RCV005021063

NM_000548.5(TSC2):c.2409G>T (p.Gln803His)

SNV
Germline

Chr16:2074253

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394277160

rs_1400548727

4 SubmittersRCV000705188 RCV001015436 RCV006552773

NM_000548.5(TSC2):c.2914G>A (p.Ala972Thr)

SNV
Germline

Chr16:2077674

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394281276

rs_1567490981

2 SubmittersRCV000707058 RCV002440550

NM_000548.5(TSC2):c.3401G>A (p.Gly1134Asp)

SNV
Germline

Chr16:2080168

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
TSC2-related disorder
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA046733

rs_766223343

6 SubmittersRCV000694273 RCV001020211 RCV004768575 RCV004735749 RCV006552717

NM_000548.5(TSC2):c.3515G>A (p.Gly1172Asp)

SNV
Germline

Chr16:2080282

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394289295

rs_1567504268

2 SubmittersRCV000694710 RCV003999623

NM_000548.5(TSC2):c.3910A>T (p.Ser1304Cys)

SNV
Germline

Chr16:2083721

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394297015

rs_1305173000

2 SubmittersRCV000695370 RCV004025239

NM_000548.5(TSC2):c.3940C>T (p.Pro1314Ser)

SNV
Germline

Chr16:2083751

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA049677

rs_771499212

2 SubmittersRCV000686237 RCV002352113

NM_000548.5(TSC2):c.4494-10C>A

SNV
Germline

Chr16:2084941

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA051371

rs_753499012

3 SubmittersRCV000690968 RCV002256468 RCV006552700

NM_000548.5(TSC2):c.4589C>T (p.Ser1530Leu)

SNV
Germline

Chr16:2085249

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394304471

rs_1567528487

4 SubmittersRCV000694999 RCV001022741 RCV003999632

NM_000548.5(TSC2):c.4613C>A (p.Pro1538Gln)

SNV
Germline

Chr16:2085273

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA394304708

rs_753060862

5 SubmittersRCV000702646 RCV002334362 RCV003106024 RCV003999733 RCV004569372

NM_000548.5(TSC2):c.4849+5G>A

SNV
Germline

Chr16:2086384

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA620705033

rs_1198379006

4 SubmittersRCV000703090 RCV001023145 RCV003999737

NM_000548.5(TSC2):c.5135C>T (p.Ala1712Val)

SNV
Germline

Chr16:2088114

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA054027

rs_45517394

5 SubmittersRCV000706814 RCV002343574 RCV006554579

NM_000548.5(TSC2):c.5161-5C>A

SNV
Germline

Chr16:2088222

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA276759298

rs_775534948

5 SubmittersRCV000699636 RCV002334342 RCV003231593 RCV004802383

NM_000548.5(TSC2):c.5257C>T (p.Arg1753Trp)

SNV
Germline

Chr16:2088323

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA054606

rs_756358402

3 SubmittersRCV000685400 RCV002334249 RCV004760700

NM_000548.5(TSC2):c.5367G>C (p.Glu1789Asp)

SNV
Germline

Chr16:2088553

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394315884

rs_966695764

6 SubmittersRCV000688858 RCV001023979 RCV001355129 RCV002499223 RCV004004288

NM_000548.5(TSC2):c.5386C>T (p.Leu1796Phe)

SNV
Germline

Chr16:2088572

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394316035

rs_45455398

5 SubmittersRCV000691738 RCV001024013 RCV003999568

NM_000548.5(TSC2):c.246G>A (p.Trp82Ter)

SNV
Germline

Chr16:2053362

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394305499

rs_1567394860

1 SubmittersRCV000704652

NM_000548.5(TSC2):c.929A>T (p.Tyr310Phe)

SNV
Germline

Chr16:2058827

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394315465

rs_878854122

5 SubmittersRCV000699700 RCV002477600 RCV002369912 RCV003999696

NM_000548.5(TSC2):c.1102C>T (p.Leu368Phe)

SNV
Germline

Chr16:2060796

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394318278

rs_1567423904

3 SubmittersRCV000687056 RCV002424592 RCV006552683

NM_000548.5(TSC2):c.2072G>A (p.Arg691His)

SNV
Germline

Chr16:2071909

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA276737852

rs_370553131

5 SubmittersRCV000704352 RCV002422591 RCV003999752

NM_000548.5(TSC2):c.2219T>C (p.Met740Thr)

SNV
Germline

Chr16:2072362

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA037187

rs_757347786

6 SubmittersRCV000702147 RCV002255515 RCV003442046

NM_000548.5(TSC2):c.2413G>A (p.Val805Ile)

SNV
Germline

Chr16:2074257

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA038994

rs_768683470

2 SubmittersRCV000691498 RCV002442445

NM_000548.5(TSC2):c.2896T>C (p.Phe966Leu)

SNV
Germline

Chr16:2077656

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394281128

rs_1567490884

2 SubmittersRCV000697283 RCV002440488

NM_000548.5(TSC2):c.3005C>T (p.Ser1002Phe)

SNV
Germline

Chr16:2079070

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA043825

rs_748261129

3 SubmittersRCV000691869 RCV004025100 RCV006552707

NM_000548.5(TSC2):c.3487G>T (p.Ala1163Ser)

SNV
Germline

Chr16:2080254

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Lymphangiomyomatosis
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA047139

rs_560522093

6 SubmittersRCV000685058 RCV001020422 RCV001117666 RCV005021049

NM_000548.5(TSC2):c.4262G>A (p.Gly1421Glu)

SNV
Germline

Chr16:2084484

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394300579

rs_1368001965

5 SubmittersRCV000693007 RCV001545128 RCV002332437 RCV006552709

NM_000548.5(TSC2):c.4303G>A (p.Glu1435Lys)

SNV
Germline

Chr16:2084525

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA394301158

rs_1441136255

5 SubmittersRCV000696535 RCV001022253 RCV005021076 RCV004997184

NM_000548.5(TSC2):c.4430G>A (p.Arg1477Lys)

SNV
Germline

Chr16:2084652

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA051117

rs_752693719

3 SubmittersRCV000701877 RCV002332482 RCV005021091

NM_000548.5(TSC2):c.4738C>T (p.Arg1580Trp)

SNV
Germline

Chr16:2086268

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA052399

rs_777592623

5 SubmittersRCV000687545 RCV001081117 RCV002334263 RCV003459674

NM_000548.5(TSC2):c.5036A>C (p.Glu1679Ala)

SNV
Germline

Chr16:2087909

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394311365

rs_1389903110

3 SubmittersRCV000691222 RCV002334288 RCV006552703

NM_000548.5(TSC2):c.5279A>C (p.Tyr1760Ser)

SNV
Germline

Chr16:2088465

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA394315177

rs_1261020269

4 SubmittersRCV000704781 RCV001023847 RCV004760743

NM_000548.5(TSC2):c.5356C>T (p.Pro1786Ser)

SNV
Germline

Chr16:2088542

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA055190

rs_371543182

7 SubmittersRCV000707703 RCV002343577 RCV003328624 RCV003994092 RCV005010711 RCV006554581

NM_000548.5(TSC2):c.5401G>A (p.Glu1801Lys)

SNV
Germline

Chr16:2088587

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394316159

rs_1249406161

2 SubmittersRCV000697404 RCV002343497

NM_000548.5(TSC2):c.202G>C (p.Ala68Pro)

SNV
Germline

Chr16:2050463

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394303524

rs_767626323

3 SubmittersRCV000691567 RCV003999562 RCV004025092

NM_000548.5(TSC2):c.257C>T (p.Ala86Val)

SNV
Germline

Chr16:2053373

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394305574

rs_1369594860

8 SubmittersRCV000701640 RCV001016002 RCV001580538 RCV003999717

NM_000548.5(TSC2):c.352G>A (p.Val118Ile)

SNV
Germline

Chr16:2054311

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394306524

rs_878854094

3 SubmittersRCV000694884 RCV002458252 RCV006552722

NM_000548.5(TSC2):c.384G>T (p.Lys128Asn)

SNV
Germline

Chr16:2054343

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA048888

rs_748095129

3 SubmittersRCV000701802 RCV002360800 RCV003999720

NM_000548.5(TSC2):c.1118A>G (p.Gln373Arg)

SNV
Germline

Chr16:2060812

Likely pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394318479

rs_397515131

1 SubmittersRCV000691479

NM_000548.5(TSC2):c.1256C>T (p.Pro419Leu)

SNV
Germline

Chr16:2062007

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394321553

rs_1237876686

4 SubmittersRCV000694218 RCV002422515 RCV003236834 RCV006552716

NM_000548.5(TSC2):c.1839+5G>C

SNV
Germline

Chr16:2070583

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA276735929

rs_200568460

3 SubmittersRCV000698935 RCV002406609 RCV003999684

NM_000548.5(TSC2):c.1912G>C (p.Val638Leu)

SNV
Germline

Chr16:2071582

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA394273214

rs_587778730

3 SubmittersRCV000692203 RCV002406566 RCV004569307

NM_000548.5(TSC2):c.2125G>T (p.Val709Phe)

SNV
Germline

Chr16:2072268

Likely pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394274802

rs_1567467135

1 SubmittersRCV000702727

NM_000548.5(TSC2):c.2366T>C (p.Val789Ala)

SNV
Germline

Chr16:2074210

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA038784

rs_748669016

6 SubmittersRCV000689736 RCV002291689 RCV002458220 RCV004004300

NM_000548.5(TSC2):c.2405G>A (p.Ser802Asn)

SNV
Germline

Chr16:2074249

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA276740789

rs_1015629239

3 SubmittersRCV000687298 RCV002442424

NM_000548.5(TSC2):c.2473G>A (p.Val825Ile)

SNV
Germline

Chr16:2074317

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Condition: not provided

Criteria Provided
Conflicting Classifications

CA039138

rs_149860212

5 SubmittersRCV000693895 RCV003999605 RCV004025173 RCV005021069 RCV005411543

NM_000548.5(TSC2):c.2877C>G (p.Asn959Lys)

SNV
Germline

Chr16:2077637

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA276743943

rs_147523833

6 SubmittersRCV000686410 RCV001016871 RCV003465558 RCV004004248 RCV005021052

NM_000548.5(TSC2):c.2948C>G (p.Ser983Cys)

SNV
Germline

Chr16:2077708

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
TSC2-related disorder
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Ovarian serous cystadenocarcinoma
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA042975

rs_759786102

9 SubmittersRCV000707088 RCV001575500 RCV002440551 RCV004544953 RCV005392318 RCV005901748 RCV006552781

NM_000548.5(TSC2):c.3358G>T (p.Val1120Leu)

SNV
Germline

Chr16:2079630

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA276746154

rs_1053311636

5 SubmittersRCV000701092 RCV001020078 RCV002509519

NM_000548.5(TSC2):c.3558T>G (p.Tyr1186Ter)

SNV
Germline

Chr16:2080325

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394289542

rs_1202939879

1 SubmittersRCV000685397

NM_000548.5(TSC2):c.3825C>A (p.Phe1275Leu)

SNV
Germline

Chr16:2082446

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA048795

rs_761713908

3 SubmittersRCV000684973 RCV003163091 RCV005054243

NM_000548.5(TSC2):c.3866G>A (p.Arg1289Lys)

SNV
Germline

Chr16:2082487

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA276750925

rs_900604900

2 SubmittersRCV000693875 RCV002360758

NM_000548.5(TSC2):c.3944C>T (p.Pro1315Leu)

SNV
Germline

Chr16:2083755

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA049710

rs_775990159

5 SubmittersRCV000707551 RCV002352224 RCV003465640 RCV005021105 RCV006552785

NM_000548.5(TSC2):c.3999C>A (p.Tyr1333Ter)

SNV
Germline

Chr16:2083810

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394297796

rs_775604492

1 SubmittersRCV000697993

NM_000548.5(TSC2):c.4082G>A (p.Arg1361Gln)

SNV
Germline

Chr16:2084304

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA050385

rs_762798984

5 SubmittersRCV000700374 RCV001021830 RCV004802385

NM_000548.5(TSC2):c.4124C>T (p.Ser1375Phe)

SNV
Germline

Chr16:2084346

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
TSC2-related disorder
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA276753293

rs_145476528

5 SubmittersRCV000700175 RCV002493221 RCV004535744 RCV003442042 RCV004026505

NM_000548.5(TSC2):c.4331C>T (p.Pro1444Leu)

SNV
Germline

Chr16:2084553

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA276753419

rs_550084361

2 SubmittersRCV000687287 RCV003163113

NM_000548.5(TSC2):c.4663-1G>T

SNV
Germline

Chr16:2086192

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394306831

rs_45517358

1 SubmittersRCV000688998

NM_000548.5(TSC2):c.4999A>G (p.Asn1667Asp)

SNV
Germline

Chr16:2087872

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Condition: not provided

Criteria Provided
Conflicting Classifications

CA394310996

rs_1182240785

4 SubmittersRCV000686009 RCV002334253 RCV003459663 RCV004723065

NM_000548.5(TSC2):c.5160+3G>A

SNV
Germline

Chr16:2088142

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA891844202

rs_45517401

4 SubmittersRCV000696626 RCV003999660 RCV005512799

NM_000548.5(TSC2):c.5165C>T (p.Ala1722Val)

SNV
Germline

Chr16:2088231

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394313865

rs_1373235682

4 SubmittersRCV000701459 RCV002334351 RCV002493231 RCV004802387

NM_000548.5(TSC2):c.5344G>T (p.Ala1782Ser)

SNV
Germline

Chr16:2088530

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA394315696

rs_1405712076

3 SubmittersRCV000696912 RCV002343495 RCV002477587

NM_000548.5(TSC2):c.5362T>G (p.Tyr1788Asp)

SNV
Germline

Chr16:2088548

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Lymphangiomyomatosis
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA276760060

rs_904411432

6 SubmittersRCV000693682 RCV001771961 RCV002343477 RCV003999601 RCV005021068

NM_000548.5(TSC2):c.2152C>A (p.Arg718Ser)

SNV
Germline

Chr16:2072295

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA394274850

rs_182538665

6 SubmittersRCV000713918 RCV001797787 RCV002424739 RCV004569405

NM_000548.5(TSC2):c.3089T>G (p.Met1030Arg)

SNV
Germline

Chr16:2079154

Likely pathogenic

Condition: not provided
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA394284667

rs_1567496821

2 SubmittersRCV000713923 RCV001861998

NM_000368.5(TSC1):c.1679G>A (p.Gly560Asp)

SNV
Germline

Chr9:132905899

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis 1
Lymphangiomyomatosis

Criteria Provided
Conflicting Classifications

CA375364274

rs_1395737285

4 SubmittersRCV001364372 RCV002317473 RCV005046977

NM_000548.5(TSC2):c.96G>A (p.Glu32=)

SNV
Germline

Chr16:2048711

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA492954460

rs_1567380772

7 SubmittersRCV000867393 RCV001731910 RCV002317431 RCV003999800

NM_000548.5(TSC2):c.4850-10T>A

SNV
Germline

Chr16:2086722

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA913190396

rs_1238997365

2 SubmittersRCV000732362 RCV003512075

NM_000548.5(TSC2):c.1145C>T (p.Thr382Ile)

SNV
Germline

Chr16:2061896

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA028620

rs_758511419

6 SubmittersRCV000732364 RCV000761152 RCV001797789 RCV002458345 RCV002485913

NM_000368.5(TSC1):c.2338A>T (p.Arg780Ter)

SNV
Germline

Chr9:132902658

Pathogenic/Likely pathogenic

Condition: not provided
Tuberous sclerosis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA375359430

rs_1564477162

2 SubmittersRCV000760541 RCV001855927

NM_000368.5(TSC1):c.2626G>T (p.Glu876Ter)

SNV
Germline

Chr9:132897610

Pathogenic

Condition: not provided
Tuberous sclerosis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA034018

rs_747602915

4 SubmittersRCV000760325 RCV001028066

NM_000368.5(TSC1):c.3439A>G (p.Ser1147Gly)

SNV
Germline

Chr9:132896291

Conflicting classifications of pathogenicity

Acute myeloid leukemia
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA037114

rs_768624733

5 SubmittersRCV000761141 RCV001349883 RCV002458369

NM_000548.5(TSC2):c.1835T>C (p.Leu612Pro)

SNV
Germline

Chr16:2070574

Conflicting classifications of pathogenicity

Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA394273013

rs_1567458244

3 SubmittersRCV000761363

NM_000548.5(TSC2):c.225+1G>A

SNV
Germline

Chr16:2050487

Pathogenic/Likely pathogenic

Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA394303666

rs_1567387207

3 SubmittersRCV000768348 RCV001378178

NM_000548.5(TSC2):c.2295C>G (p.Ala765=)

SNV
Germline

Chr16:2072923

Conflicting classifications of pathogenicity

Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA492952659

rs_45509500

7 SubmittersRCV000768119 RCV000907248 RCV001015044 RCV003999914

NM_000548.5(TSC2):c.2479G>A (p.Val827Met)

SNV
Germline

Chr16:2074323

Conflicting classifications of pathogenicity

Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Tuberous sclerosis 2
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA039169

rs_543738044

5 SubmittersRCV000768121 RCV001043364 RCV004678818

NM_000368.5(TSC1):c.232G>T (p.Glu78Ter)

SNV
Germline

Chr9:132925718

Pathogenic/Likely pathogenic

Tuberous sclerosis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA375374791

rs_1588355838

2 SubmittersRCV000855450

NM_000548.5(TSC2):c.2355+2T>G

SNV
Germline

Chr16:2072985

Pathogenic

Tuberous sclerosis 2

No Assertion Criteria Provided

CA394276721

rs_45517228

1 SubmittersRCV000786887

NM_000368.5(TSC1):c.3433C>G (p.Pro1145Ala)

SNV
Germline

Chr9:132896297

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA037053

rs_773541137

4 SubmittersRCV000792073 RCV001020297

NM_000368.5(TSC1):c.3424C>T (p.Pro1142Ser)

SNV
Germline

Chr9:132896306

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 1

Criteria Provided
Conflicting Classifications

CA375366402

rs_1060503227

4 SubmittersRCV000807044 RCV002453808 RCV004001693 RCV005047093

NM_000368.5(TSC1):c.3305G>A (p.Ser1102Asn)

SNV
Germline

Chr9:132896425

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA375366663

rs_1263464680

4 SubmittersRCV000819759 RCV001759601 RCV002325614

NM_000368.5(TSC1):c.3274G>T (p.Ala1092Ser)

SNV
Germline

Chr9:132896456

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA036323

rs_747053008

4 SubmittersRCV000793432 RCV001019566 RCV003472338

NM_000368.5(TSC1):c.3266G>A (p.Gly1089Asp)

SNV
Germline

Chr9:132896464

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA036260

rs_762845573

2 SubmittersRCV000793677 RCV005286209

NM_000368.5(TSC1):c.3175T>C (p.Phe1059Leu)

SNV
Germline

Chr9:132896555

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA375367142

rs_1379924767

3 SubmittersRCV000815344 RCV004949982 RCV006270437

NM_000368.5(TSC1):c.3016G>C (p.Gly1006Arg)

SNV
Germline

Chr9:132896714

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA375367890

rs_1242948205

5 SubmittersRCV000819678 RCV001552544 RCV001018065

NM_000368.5(TSC1):c.2864C>A (p.Thr955Asn)

SNV
Germline

Chr9:132897295

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis 1
Lymphangiomyomatosis

Criteria Provided
Conflicting Classifications

CA375368839

rs_1488726432

3 SubmittersRCV000804534 RCV003166239 RCV005047085

NM_000368.5(TSC1):c.2776C>G (p.Gln926Glu)

SNV
Germline

Chr9:132897460

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA034563

rs_397514879

3 SubmittersRCV000816674 RCV003307528 RCV004001790

NM_000368.5(TSC1):c.2651A>G (p.Tyr884Cys)

SNV
Germline

Chr9:132897585

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA375369627

rs_1449821288

3 SubmittersRCV000808604 RCV002495109 RCV003307494

NM_000368.5(TSC1):c.2636T>C (p.Met879Thr)

SNV
Germline

Chr9:132897600

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 1

Criteria Provided
Conflicting Classifications

CA034047

rs_754457018

6 SubmittersRCV000817447 RCV001167131 RCV002257984 RCV005049706

NM_000368.5(TSC1):c.2432G>A (p.Arg811Gln)

SNV
Germline

Chr9:132901659

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA032689

rs_761281095

8 SubmittersRCV000823084 RCV001015512 RCV001568061 RCV002235444 RCV005401636

NM_000368.5(TSC1):c.2431C>T (p.Arg811Trp)

SNV
Germline

Chr9:132901660

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA375358621

rs_397514814

5 SubmittersRCV000804741 RCV002453791 RCV004001673 RCV005054266

NM_000368.5(TSC1):c.2393C>T (p.Thr798Met)

SNV
Germline

Chr9:132901698

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA375358826

rs_1331635112

4 SubmittersRCV000816577 RCV001015382 RCV001766718

NM_000368.5(TSC1):c.2369A>G (p.Tyr790Cys)

SNV
Germline

Chr9:132902627

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA032216

rs_749111647

4 SubmittersRCV000798316 RCV001015305 RCV004569554

NM_000368.5(TSC1):c.2284A>G (p.Asn762Asp)

SNV
Germline

Chr9:132902712

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA375359764

rs_1264839312

5 SubmittersRCV000809055 RCV002442707 RCV003472401 RCV004803248

NM_000368.5(TSC1):c.2242C>T (p.Gln748Ter)

SNV
Germline

Chr9:132902754

Pathogenic

Tuberous sclerosis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA375359955

rs_1588301951

2 SubmittersRCV000820650

NM_000368.5(TSC1):c.2161C>T (p.Arg721Cys)

SNV
Germline

Chr9:132903698

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA031596

rs_763357144

4 SubmittersRCV000805367 RCV002424872 RCV006552879

NM_000368.5(TSC1):c.1995C>G (p.Asn665Lys)

SNV
Germline

Chr9:132905583

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA375362220

rs_748733167

3 SubmittersRCV000799145 RCV002255527

NM_000368.5(TSC1):c.1816C>T (p.His606Tyr)

SNV
Germline

Chr9:132905762

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA375363328

rs_1343881428

4 SubmittersRCV000798422 RCV002501062 RCV003461102 RCV004001620

NM_000368.5(TSC1):c.1813G>A (p.Asp605Asn)

SNV
Germline

Chr9:132905765

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA375363348

rs_1588309025

6 SubmittersRCV000795454 RCV001759502 RCV002406743 RCV003467348 RCV006552849

NM_000368.5(TSC1):c.1546C>T (p.Gln516Ter)

SNV
Germline/somatic

Chr9:132906032

Pathogenic

Tuberous sclerosis 1
Malignant tumor of urinary bladder

Criteria Provided
Single Submitter

CA375365152

rs_1588310754

2 SubmittersRCV000804841 RCV003332259

NM_000368.5(TSC1):c.1418T>C (p.Ile473Thr)

SNV
Germline

Chr9:132906751

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
TSC1-related disorder

Criteria Provided
Conflicting Classifications

CA028574

rs_185159716

3 SubmittersRCV000824318 RCV002390714 RCV003908111

NM_000368.5(TSC1):c.1219G>C (p.Val407Leu)

SNV
Germline

Chr9:132910615

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA375366893

rs_769331772

3 SubmittersRCV000812099 RCV002363107 RCV004997368

NM_000368.5(TSC1):c.1022C>T (p.Pro341Leu)

SNV
Germline

Chr9:132911460

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA375368421

rs_1588324106

4 SubmittersRCV000817104 RCV002442738 RCV003473496 RCV006545551

NM_000368.5(TSC1):c.884G>C (p.Ser295Thr)

SNV
Germline

Chr9:132912311

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis 1
Lymphangiomyomatosis
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA375369099

rs_1415705359

6 SubmittersRCV000808212 RCV002291701 RCV002370159 RCV002487737 RCV004803245

NM_000368.5(TSC1):c.683G>A (p.Arg228Gln)

SNV
Germline

Chr9:132921417

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA375371452

rs_1223799508

3 SubmittersRCV000796501 RCV004001600 RCV003344053

NM_000368.5(TSC1):c.555C>G (p.Tyr185Ter)

SNV
Germline

Chr9:132921927

Pathogenic

Tuberous sclerosis 1

Criteria Provided
Single Submitter

CA375372744

rs_118203398

1 SubmittersRCV000809212

NM_000368.5(TSC1):c.395G>C (p.Gly132Ala)

SNV
Germline

Chr9:132923461

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA200901597

rs_397514784

4 SubmittersRCV000793584 RCV004027447 RCV004001574

NM_000368.5(TSC1):c.356G>A (p.Cys119Tyr)

SNV
Germline

Chr9:132925594

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA375374314

rs_1554820265

2 SubmittersRCV000822480 RCV003169034

NM_000368.5(TSC1):c.272C>T (p.Ser91Leu)

SNV
Germline

Chr9:132925678

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Tuberous sclerosis 1
Lymphangiomyomatosis
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA034438

rs_118203361

4 SubmittersRCV000799995 RCV002487685 RCV002440669

NM_000368.5(TSC1):c.158G>A (p.Ser53Asn)

SNV
Germline

Chr9:132927253

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA375375132

rs_1588359592

2 SubmittersRCV000816230 RCV005749649

NM_000368.5(TSC1):c.116C>G (p.Pro39Arg)

SNV
Germline

Chr9:132927295

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA027217

rs_770831962

3 SubmittersRCV000817725 RCV004569733 RCV006287276

NM_000368.5(TSC1):c.109C>A (p.Arg37Ser)

SNV
Germline

Chr9:132927302

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA375375234

rs_1309560054

5 SubmittersRCV000816480 RCV001017290 RCV003320759 RCV006545544

NM_000368.5(TSC1):c.70G>A (p.Asp24Asn)

SNV
Germline

Chr9:132928803

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA200902498

rs_984306144

6 SubmittersRCV000815042 RCV002363122 RCV003141835 RCV002495148 RCV003461229 RCV004001770

NM_000368.5(TSC1):c.61G>T (p.Val21Leu)

SNV
Germline

Chr9:132928812

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA375375348

rs_1392596033

5 SubmittersRCV000795310 RCV001572386 RCV002352327 RCV004803221

NM_000368.5(TSC1):c.10C>T (p.Gln4Ter)

SNV
Germline

Chr9:132928863

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA027033

rs_753838459

3 SubmittersRCV000807651 RCV003442093 RCV005502912

NM_000548.5(TSC2):c.11C>T (p.Pro4Leu)

SNV
Germline

Chr16:2048626

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA028755

rs_147206318

3 SubmittersRCV000815336 RCV002345865 RCV006545540

NM_000548.5(TSC2):c.175C>T (p.Arg59Trp)

SNV
Germline

Chr16:2050436

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA276769391

rs_1015282988

7 SubmittersRCV000815994 RCV001249157 RCV001013003 RCV004803260

NM_000548.5(TSC2):c.190A>T (p.Ile64Phe)

SNV
Germline

Chr16:2050451

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394303451

rs_397515081

2 SubmittersRCV000799165 RCV002406765

NM_000548.5(TSC2):c.233T>C (p.Val78Ala)

SNV
Germline

Chr16:2053349

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA394305430

rs_1163221525

2 SubmittersRCV000796282 RCV002495047

NM_000548.5(TSC2):c.239C>T (p.Ala80Val)

SNV
Germline

Chr16:2053355

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA276771032

rs_142580483

3 SubmittersRCV000812994 RCV002259026

NM_000548.5(TSC2):c.293G>A (p.Arg98Gln)

SNV
Germline

Chr16:2053409

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394305789

rs_1478204355

7 SubmittersRCV000796897 RCV001840733 RCV002440646 RCV002487669 RCV003461091 RCV004001605

NM_000548.5(TSC2):c.310C>G (p.Leu104Val)

SNV
Germline

Chr16:2053426

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394305913

rs_1596259554

3 SubmittersRCV000820374 RCV002319905 RCV004803267

NM_000548.5(TSC2):c.343C>T (p.Arg115Cys)

SNV
Germline

Chr16:2054302

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA394306415

rs_1256047792

3 SubmittersRCV000802000 RCV003307466 RCV004773161

NM_000548.5(TSC2):c.364C>T (p.Leu122Phe)

SNV
Germline

Chr16:2054323

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394306653

rs_1175373447

2 SubmittersRCV000821089 RCV002453884

NM_000548.5(TSC2):c.365T>A (p.Leu122His)

SNV
Germline

Chr16:2054324

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Lymphangiomyomatosis

Criteria Provided
Conflicting Classifications

CA394306656

rs_756263581

3 SubmittersRCV000822531 RCV002453897 RCV002495179

NM_000548.5(TSC2):c.392C>T (p.Pro131Leu)

SNV
Germline

Chr16:2054351

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394306918

rs_1487984678

2 SubmittersRCV000811943 RCV004028754

NM_000548.5(TSC2):c.412G>A (p.Glu138Lys)

SNV
Germline

Chr16:2054371

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394307089

rs_1173061992

5 SubmittersRCV000802752 RCV001805870 RCV003166220 RCV004001651

NM_000548.5(TSC2):c.488T>C (p.Phe163Ser)

SNV
Germline

Chr16:2055408

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394309071

rs_1596270677

5 SubmittersRCV000820781 RCV001585759 RCV005512832

NM_000548.5(TSC2):c.508G>A (p.Val170Ile)

SNV
Germline

Chr16:2055428

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA394309219

rs_1596270815

4 SubmittersRCV000796975 RCV001023518 RCV005021200

NM_000548.5(TSC2):c.643A>G (p.Ile215Val)

SNV
Germline

Chr16:2056239

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394311031

rs_1293515155

6 SubmittersRCV000802751 RCV001759528 RCV002360958 RCV005021214 RCV006552875

NM_000548.5(TSC2):c.713T>C (p.Leu238Pro)

SNV
Germline

Chr16:2056708

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA056191

rs_768623382

4 SubmittersRCV000809469 RCV001026083 RCV004001712

NM_000548.5(TSC2):c.932C>G (p.Ser311Cys)

SNV
Germline

Chr16:2058830

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394315485

rs_1475672414

4 SubmittersRCV000819530 RCV001766732 RCV006287278

NM_000548.5(TSC2):c.947C>T (p.Pro316Leu)

SNV
Germline

Chr16:2058845

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394315620

rs_751490043

5 SubmittersRCV000806808 RCV001772084 RCV002442696 RCV004001690

NM_000548.5(TSC2):c.1108C>T (p.Gln370Ter)

SNV
Germline

Chr16:2060802

Pathogenic

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA394318338

rs_1596298721

5 SubmittersRCV000801770 RCV002458470 RCV006250869

NM_000548.5(TSC2):c.1184G>A (p.Cys395Tyr)

SNV
Germline

Chr16:2061935

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA276777444

rs_1026632436

4 SubmittersRCV000811652 RCV002336669

NM_000548.5(TSC2):c.1239A>T (p.Arg413Ser)

SNV
Germline

Chr16:2061990

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394321372

rs_1596303739

2 SubmittersRCV000820928 RCV002372341

NM_000548.5(TSC2):c.1273A>T (p.Asn425Tyr)

SNV
Germline

Chr16:2062512

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA394321904

rs_1186443300

4 SubmittersRCV000804702 RCV003332258 RCV004028190 RCV005021219

NM_000548.5(TSC2):c.1339G>A (p.Ala447Thr)

SNV
Germline

Chr16:2062578

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394322556

rs_1408196847

4 SubmittersRCV000793796 RCV004949909 RCV006552846

NM_000548.5(TSC2):c.1352G>A (p.Arg451Lys)

SNV
Germline

Chr16:2062591

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA029408

rs_749780677

5 SubmittersRCV000802374 RCV000827504 RCV002386431 RCV006552872

NM_000548.5(TSC2):c.1390A>C (p.Lys464Gln)

SNV
Germline

Chr16:2063000

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA394323765

rs_1555501694

4 SubmittersRCV000820637 RCV004029043 RCV005021251 RCV006252734

NM_000548.5(TSC2):c.1470C>G (p.Ile490Met)

SNV
Germline

Chr16:2064298

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394325732

rs_753344988

4 SubmittersRCV000810250 RCV001011757 RCV004001720

NM_000548.5(TSC2):c.1490C>A (p.Pro497His)

SNV
Germline

Chr16:2064318

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
TSC2-related disorder
Tuberous sclerosis syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA394325945

rs_1484576810

6 SubmittersRCV000818281 RCV002390674 RCV004528312 RCV004803265 RCV004997381

NM_000548.5(TSC2):c.1600G>A (p.Val534Met)

SNV
Germline

Chr16:2065519

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394267527

rs_587778729

3 SubmittersRCV000807088 RCV001012372

NM_000548.5(TSC2):c.1613C>G (p.Ser538Cys)

SNV
Germline

Chr16:2065532

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA031745

rs_201334685

2 SubmittersRCV000793613 RCV002388422

NM_000548.5(TSC2):c.1848C>G (p.Asp616Glu)

SNV
Germline

Chr16:2071518

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394273044

rs_1383525805

2 SubmittersRCV000800212 RCV002406769

NM_000548.5(TSC2):c.1885C>G (p.Leu629Val)

SNV
Germline

Chr16:2071555

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA394273125

rs_570409651

6 SubmittersRCV000799154 RCV001013536 RCV004001622 RCV002487679

NM_000548.5(TSC2):c.1905T>G (p.Asp635Glu)

SNV
Germline

Chr16:2071575

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA394273174

rs_1596342515

7 SubmittersRCV000793379 RCV002406731 RCV002487653 RCV003461076 RCV004803218 RCV004721605

NM_000548.5(TSC2):c.1928A>G (p.Tyr643Cys)

SNV
Germline

Chr16:2071598

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Tuberous sclerosis syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
TSC2-related disorder

Criteria Provided
Conflicting Classifications

CA394273307

rs_1319342312

9 SubmittersRCV000803397 RCV001526823 RCV001592994 RCV002406784 RCV002501080 RCV004528302

NM_000548.5(TSC2):c.1933G>C (p.Val645Leu)

SNV
Germline

Chr16:2071603

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA034578

rs_746677177

4 SubmittersRCV000811430 RCV002406828 RCV002254945 RCV004803252

NM_000548.5(TSC2):c.1976C>G (p.Thr659Ser)

SNV
Germline

Chr16:2071813

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA035359

rs_755847664

2 SubmittersRCV000804262 RCV002422754

NM_000548.5(TSC2):c.1991C>T (p.Ser664Phe)

SNV
Germline

Chr16:2071828

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA394274410

rs_991714565

4 SubmittersRCV000802473 RCV001013973 RCV004588264

NM_000548.5(TSC2):c.2158A>G (p.Lys720Glu)

SNV
Germline

Chr16:2072301

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394274862

rs_1195091149

3 SubmittersRCV000816211 RCV002507425 RCV006545543

NM_000548.5(TSC2):c.2386C>G (p.Leu796Val)

SNV
Germline

Chr16:2074230

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394277052

rs_1596356291

4 SubmittersRCV000805175 RCV002453794 RCV002487724 RCV004001676

NM_000548.5(TSC2):c.2399G>C (p.Cys800Ser)

SNV
Germline

Chr16:2074243

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA038900

rs_746044783

2 SubmittersRCV000807985 RCV006552884

NM_000548.5(TSC2):c.2417T>C (p.Val806Ala)

SNV
Germline

Chr16:2074261

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA394277221

rs_1285249923

4 SubmittersRCV000811110 RCV002442713 RCV005021231

NM_000548.5(TSC2):c.2440G>T (p.Glu814Ter)

SNV
Germline

Chr16:2074284

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394277390

rs_45485395

1 SubmittersRCV000799704

NM_000548.5(TSC2):c.2452A>G (p.Ile818Val)

SNV
Germline

Chr16:2074296

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA394277470

rs_1596356585

7 SubmittersRCV000996155 RCV000819204 RCV002259029 RCV004569745

NM_000548.5(TSC2):c.2592G>C (p.Gln864His)

SNV
Germline

Chr16:2075845

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA040176

rs_763099064

5 SubmittersRCV000798458 RCV001759515 RCV002458444 RCV005021204

NM_000548.5(TSC2):c.2732T>G (p.Phe911Cys)

SNV
Germline

Chr16:2076160

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA041055

rs_774758044

7 SubmittersRCV000821573 RCV001016431 RCV002281138 RCV003467508 RCV004002834

NM_000548.5(TSC2):c.2818C>T (p.Leu940Phe)

SNV
Germline

Chr16:2076566

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394280196

rs_1378325757

2 SubmittersRCV000824363 RCV002434030

NM_000548.5(TSC2):c.2827A>T (p.Arg943Ter)

SNV
Germline

Chr16:2076575

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394280216

rs_1596369682

1 SubmittersRCV000810139

NM_000548.5(TSC2):c.2879C>G (p.Ser960Cys)

SNV
Germline

Chr16:2077639

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394281004

rs_397514898

2 SubmittersRCV000817515 RCV005286231

NM_000548.5(TSC2):c.2882C>T (p.Pro961Leu)

SNV
Germline

Chr16:2077642

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA042547

rs_370415754

6 SubmittersRCV000799042 RCV003117590 RCV002440661 RCV006552862

NM_000548.5(TSC2):c.2904G>C (p.Glu968Asp)

SNV
Germline

Chr16:2077664

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA042638

rs_765438249

3 SubmittersRCV000808462 RCV002440730 RCV002487740

NM_000548.5(TSC2):c.2917G>A (p.Glu973Lys)

SNV
Germline

Chr16:2077677

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA042754

rs_780981335

6 SubmittersRCV000810880 RCV001759564 RCV002507412 RCV002440748 RCV004001727

NM_000548.5(TSC2):c.2933G>T (p.Arg978Leu)

SNV
Germline

Chr16:2077693

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394281419

rs_876660733

2 SubmittersRCV000811502 RCV002440756

NM_000548.5(TSC2):c.2956G>A (p.Val986Met)

SNV
Germline

Chr16:2077716

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA043009

rs_765489754

3 SubmittersRCV000797775 RCV003166162 RCV003467365

NM_000548.5(TSC2):c.2995A>T (p.Ser999Cys)

SNV
Germline

Chr16:2079060

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA043657

rs_777089012

6 SubmittersRCV000808265 RCV001805880 RCV002440728 RCV002487738 RCV006552887

NM_000548.5(TSC2):c.2996G>A (p.Ser999Asn)

SNV
Germline

Chr16:2079061

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA043671

rs_149808366

8 SubmittersRCV000823012 RCV001568109 RCV002257992 RCV004002850 RCV005021257

NM_000548.5(TSC2):c.2996G>C (p.Ser999Thr)

SNV
Germline

Chr16:2079061

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394283753

rs_149808366

4 SubmittersRCV000804142 RCV001017863 RCV004803234

NM_000548.5(TSC2):c.3116C>T (p.Thr1039Met)

SNV
Germline

Chr16:2079181

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394284894

rs_1596382895

6 SubmittersRCV000805766 RCV002325565 RCV002495100 RCV005623370 RCV004001680

NM_000548.5(TSC2):c.3145G>T (p.Glu1049Ter)

SNV
Germline

Chr16:2079289

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394285222

rs_796053492

1 SubmittersRCV000821196

NM_000548.5(TSC2):c.3223A>G (p.Thr1075Ala)

SNV
Germline

Chr16:2079367

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA044809

rs_768568810

2 SubmittersRCV000823728 RCV002442767

NM_000548.5(TSC2):c.3373C>T (p.Arg1125Trp)

SNV
Germline

Chr16:2079645

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA046293

rs_747420910

6 SubmittersRCV000816039 RCV001020120 RCV001772112 RCV005021242

NM_000548.5(TSC2):c.3388T>G (p.Ser1130Ala)

SNV
Germline

Chr16:2079660

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA046451

rs_770048768

2 SubmittersRCV000794325 RCV002458416

NM_000548.5(TSC2):c.3392T>C (p.Met1131Thr)

SNV
Germline

Chr16:2079664

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA046476

rs_763122999

7 SubmittersRCV000809238 RCV001020182 RCV002478879 RCV004001709

NM_000548.5(TSC2):c.3470G>C (p.Gly1157Ala)

SNV
Germline

Chr16:2080237

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394288926

rs_1477039147

3 SubmittersRCV000803450 RCV002336624 RCV004001663

NM_000548.5(TSC2):c.3557A>T (p.Tyr1186Phe)

SNV
Germline

Chr16:2080324

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided
Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA047470

rs_137854421

4 SubmittersRCV000821140 RCV004773199 RCV004803269 RCV005502922

NM_000548.5(TSC2):c.3761C>T (p.Ser1254Leu)

SNV
Germline

Chr16:2081745

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394293214

rs_1596400563

2 SubmittersRCV000793813 RCV004027457

NM_000548.5(TSC2):c.3787C>T (p.Pro1263Ser)

SNV
Germline

Chr16:2081771

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394293465

rs_1233661099

6 SubmittersRCV000794216 RCV002343657 RCV002487657 RCV003229863 RCV004001585

NM_000548.5(TSC2):c.3934G>A (p.Val1312Met)

SNV
Germline

Chr16:2083745

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394297276

rs_201584397

2 SubmittersRCV000815948 RCV002372303

NM_000548.5(TSC2):c.3991G>C (p.Asp1331His)

SNV
Germline

Chr16:2083802

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394297728

rs_770396146

5 SubmittersRCV000807415 RCV001766687 RCV004028614 RCV004803243

NM_000548.5(TSC2):c.4002C>G (p.Ser1334Arg)

SNV
Germline

Chr16:2083813

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394297852

rs_1060500911

2 SubmittersRCV000822572 RCV005762109

NM_000548.5(TSC2):c.4100G>A (p.Gly1367Asp)

SNV
Germline

Chr16:2084322

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA394299479

rs_1460776110

3 SubmittersRCV000813196 RCV003307516 RCV004569689

NM_000548.5(TSC2):c.4115T>C (p.Val1372Ala)

SNV
Germline

Chr16:2084337

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394299531

rs_1300203299

3 SubmittersRCV000817763 RCV001021899

NM_000548.5(TSC2):c.4201C>T (p.Pro1401Ser)

SNV
Germline

Chr16:2084423

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA050649

rs_778147657

6 SubmittersRCV000822458 RCV001575055 RCV002332714 RCV004002843

NM_000548.5(TSC2):c.4462A>G (p.Asn1488Asp)

SNV
Germline

Chr16:2084684

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394302462

rs_1203541600

2 SubmittersRCV000821429 RCV002332708

NM_000548.5(TSC2):c.4573C>G (p.Gln1525Glu)

SNV
Germline

Chr16:2085233

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394304316

rs_45517352

6 SubmittersRCV000821259 RCV002478922 RCV003222146 RCV005298629

NM_000548.5(TSC2):c.4709G>A (p.Arg1570Lys)

SNV
Germline

Chr16:2086239

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA276756224

rs_397514980

4 SubmittersRCV000822193 RCV001772137 RCV002332711

NM_000548.5(TSC2):c.4766C>T (p.Pro1589Leu)

SNV
Germline

Chr16:2086296

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA052421

rs_373635516

7 SubmittersRCV000823493 RCV001023009 RCV004002855 RCV004723250

NM_000548.5(TSC2):c.4909A>G (p.Lys1637Glu)

SNV
Germline

Chr16:2086791

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394308497

rs_1596443444

2 SubmittersRCV000812492 RCV006287272

NM_000548.5(TSC2):c.5115C>G (p.Asp1705Glu)

SNV
Germline

Chr16:2088094

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394312331

rs_1385591764

5 SubmittersRCV000821191 RCV001664442 RCV002345894 RCV004803272

NM_000548.5(TSC2):c.5129T>G (p.Phe1710Cys)

SNV
Germline

Chr16:2088108

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394312445

rs_1315439478

2 SubmittersRCV000811006 RCV004949968

NM_000548.5(TSC2):c.5133G>A (p.Val1711=)

SNV
Germline

Chr16:2088112

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA493043672

rs_1596457919

4 SubmittersRCV000821179 RCV002345893 RCV004818056 RCV004803271

NM_000548.5(TSC2):c.5197A>G (p.Thr1733Ala)

SNV
Germline

Chr16:2088263

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA394314229

rs_1596460327

4 SubmittersRCV000806641 RCV003461161 RCV003380734 RCV004768667

NM_000548.5(TSC2):c.5204T>C (p.Ile1735Thr)

SNV
Germline

Chr16:2088270

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
TSC2-related disorder
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA276759442

rs_786203769

6 SubmittersRCV000819482 RCV001023722 RCV004735820 RCV006545560

NM_000548.5(TSC2):c.5377C>G (p.Arg1793Gly)

SNV
Germline

Chr16:2088563

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394315966

rs_1473538868

4 SubmittersRCV000793542 RCV001023995 RCV006552843

NM_000368.5(TSC1):c.2814-2A>G

SNV
Germline

Chr9:132897347

Likely pathogenic

Tuberous sclerosis 1

Criteria Provided
Single Submitter

CA375368958

rs_1588290111

1 SubmittersRCV000810834

NM_000368.5(TSC1):c.2626-5T>G

SNV
Germline

Chr9:132897615

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA915947226

rs_1444272064

2 SubmittersRCV000822081 RCV003169029

NM_000548.5(TSC2):c.1119+3G>C

SNV
Germline

Chr16:2060816

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA915946232

rs_79668097

3 SubmittersRCV000797499 RCV001017389

NM_000548.5(TSC2):c.1716+3G>C

SNV
Germline

Chr16:2065638

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA915946241

rs_1596317691

2 SubmittersRCV000799989 RCV006287266

NM_000548.5(TSC2):c.1716+5G>C

SNV
Germline

Chr16:2065640

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA915946242

rs_1596317714

1 SubmittersRCV000822477

NM_000548.5(TSC2):c.3815-8C>G

SNV
Germline

Chr16:2082428

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA915946299

rs_1596404187

2 SubmittersRCV000807874 RCV002464327

NM_000548.5(TSC2):c.138+6T>C

SNV
Germline

Chr16:2048759

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA620704769

rs_1252109762

2 SubmittersRCV000806644 RCV006552881

NM_000548.5(TSC2):c.1119+6G>A

SNV
Germline

Chr16:2060819

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA028385

rs_397515305

3 SubmittersRCV000811629 RCV004001732

NM_000548.5(TSC2):c.1257+1G>C

SNV
Germline

Chr16:2062009

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394321570

rs_397515066

1 SubmittersRCV000813443

NM_000548.5(TSC2):c.1946+3A>C

SNV
Germline

Chr16:2071619

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Rhabdomyoma

Criteria Provided
Conflicting Classifications

CA915946249

rs_1596342841

2 SubmittersRCV000818397 RCV005235487

NM_000548.5(TSC2):c.4493+3G>A

SNV
Germline

Chr16:2084718

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA718918957

rs_1259786285

4 SubmittersRCV000796611 RCV005298612 RCV006552853

NM_000548.5(TSC2):c.4569+5G>A

SNV
Germline

Chr16:2085031

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA051676

rs_746446349

6 SubmittersRCV000817647 RCV001022710 RCV002501128 RCV006545553 RCV006261113

NM_000548.5(TSC2):c.5068+1G>T

SNV
Germline

Chr16:2087942

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394311746

rs_45445199

1 SubmittersRCV000803783

NM_000548.5(TSC2):c.2356-1G>C

SNV
Germline

Chr16:2074199

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394276918

rs_45481704

1 SubmittersRCV000815340

NM_000548.5(TSC2):c.2967-1G>T

SNV
Germline

Chr16:2079031

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA394283420

rs_1596382055

5 SubmittersRCV000791728 RCV002440623 RCV004001555 RCV004721599

NM_000548.5(TSC2):c.4570-1G>A

SNV
Germline

Chr16:2085229

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA051714

rs_777985056

7 SubmittersRCV000824388 RCV001022719 RCV002260671 RCV003461290 RCV006545567

NM_000368.5(TSC1):c.2446A>T (p.Lys816Ter)

SNV
Germline

Chr9:132901645

Pathogenic

Tuberous sclerosis syndrome

Criteria Provided
Single Submitter

CA375358564

rs_1588299158

1 SubmittersRCV000826206

NM_000548.5(TSC2):c.4010C>T (p.Ser1337Phe)

SNV
Germline

Chr16:2084232

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA050168

rs_200411484

6 SubmittersRCV000840982 RCV001034267 RCV002372380 RCV004002891

NM_000548.5(TSC2):c.5268G>C (p.Glu1756Asp)

SNV
Germline

Chr16:2088454

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA054895

rs_755229386

4 SubmittersRCV000840146 RCV001202480 RCV002336738

NM_000548.5(TSC2):c.5337G>A (p.Gln1779=)

SNV
Germline

Chr16:2088523

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome
TSC2-related disorder

Criteria Provided
Conflicting Classifications

CA276760043

rs_768237144

8 SubmittersRCV000827300 RCV001023945 RCV001477025 RCV004002876 RCV004726699

NM_000368.5(TSC1):c.2994C>T (p.Asp998=)

SNV
Germline

Chr9:132896736

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA200925907

rs_923543734

6 SubmittersRCV000867669 RCV001169543 RCV002434098 RCV004003003

NM_000368.5(TSC1):c.1734C>T (p.Thr578=)

SNV
Germline

Chr9:132905844

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA467813415

rs_1251871091

5 SubmittersRCV000868067 RCV001167199 RCV002399908

NM_000548.5(TSC2):c.879A>G (p.Arg293=)

SNV
Germline

Chr16:2058777

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA056641

rs_369222477

7 SubmittersRCV000870337 RCV001018344 RCV001117345

NM_000368.5(TSC1):c.1574G>C (p.Ser525Thr)

SNV
Germline

Chr9:132906004

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 1

Criteria Provided
Conflicting Classifications

CA029046

rs_750784794

3 SubmittersRCV000878275 RCV002399971 RCV005047140

NM_000368.5(TSC1):c.1549C>T (p.Arg517Trp)

SNV
Germline

Chr9:132906029

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA375365139

rs_1243886871

5 SubmittersRCV000871624 RCV001766779 RCV002399935 RCV003473525

NM_000368.5(TSC1):c.542A>G (p.His181Arg)

SNV
Germline

Chr9:132921940

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA038042

rs_397515294

6 SubmittersRCV000877417 RCV002346037 RCV004003122 RCV004588318

NM_000548.5(TSC2):c.2553C>T (p.Ala851=)

SNV
Germline

Chr16:2075806

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA040006

rs_745687916

9 SubmittersRCV000873394 RCV001015908 RCV001712820 RCV004003087

NM_000548.5(TSC2):c.3243A>G (p.Leu1081=)

SNV
Germline

Chr16:2079387

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA493042936

rs_1156745816

4 SubmittersRCV001417889 RCV003307653 RCV004997452 RCV004803293

NM_000368.5(TSC1):c.913+9T>C

SNV
Germline

Chr9:132912273

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA915947257

rs_1588326345

3 SubmittersRCV000875899 RCV006261149

NM_000548.5(TSC2):c.5388C>T (p.Leu1796=)

SNV
Germline

Chr16:2088574

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA493043795

rs_1412229429

5 SubmittersRCV000951039 RCV004950092 RCV006265488

NM_000548.5(TSC2):c.2394C>T (p.His798=)

SNV
Germline

Chr16:2074238

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA038874

rs_547019464

4 SubmittersRCV000960352 RCV002454189 RCV004004362

NM_000548.5(TSC2):c.1842C>G (p.Ala614=)

SNV
Germline

Chr16:2071512

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Tuberous sclerosis syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
TSC2-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA492950239

rs_201575136

9 SubmittersRCV000893183 RCV001119052 RCV001548400 RCV003169247 RCV004541837 RCV006460059

NM_000548.5(TSC2):c.2130G>A (p.Leu710=)

SNV
Germline

Chr16:2072273

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA036787

rs_747122485

4 SubmittersRCV001477298 RCV002416118 RCV006545658

NM_000548.5(TSC2):c.2877C>T (p.Asn959=)

SNV
Germline

Chr16:2077637

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA492954899

rs_147523833

4 SubmittersRCV001405978 RCV002434192 RCV003322835

NM_000368.5(TSC1):c.219G>A (p.Leu73=)

SNV
Germline

Chr9:132925731

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA467594234

rs_1588355863

2 SubmittersRCV001438594 RCV006545665

NM_000548.5(TSC2):c.758G>A (p.Cys253Tyr)

SNV
Germline

Chr16:2056753

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA056325

rs_766547457

3 SubmittersRCV000917318 RCV004003176 RCV004950048

NM_000548.5(TSC2):c.901A>G (p.Met301Val)

SNV
Germline

Chr16:2058799

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA394315257

rs_1356498946

3 SubmittersRCV001522508 RCV002372554 RCV004721677

NM_000548.5(TSC2):c.1005C>T (p.Ser335=)

SNV
Germline

Chr16:2060699

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA492960656

rs_397514924

4 SubmittersRCV000925362 RCV002256605 RCV004803305

NM_000548.5(TSC2):c.1470C>A (p.Ile490=)

SNV
Germline

Chr16:2064298

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA030719

rs_753344988

3 SubmittersRCV000921696 RCV001421613 RCV003307690

NM_000548.5(TSC2):c.1931G>A (p.Cys644Tyr)

SNV
Germline

Chr16:2071601

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA034528

rs_758301934

6 SubmittersRCV000925339 RCV001013637 RCV006545677

NM_000548.5(TSC2):c.3834G>A (p.Leu1278=)

SNV
Germline

Chr16:2082455

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA048852

rs_766029525

2 SubmittersRCV000911386 RCV002354744

NM_000368.5(TSC1):c.711C>T (p.Ser237=)

SNV
Germline

Chr9:132921389

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA467593730

rs_1588345678

3 SubmittersRCV000942372 RCV004029724

NM_000368.5(TSC1):c.546C>T (p.Ala182=)

SNV
Germline

Chr9:132921936

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA467593825

rs_1245007527

5 SubmittersRCV000932424 RCV002256608 RCV006545689

NM_000548.5(TSC2):c.264G>A (p.Leu88=)

SNV
Germline

Chr16:2053380

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA492955200

rs_1466279830

7 SubmittersRCV000940368 RCV001569812 RCV002259061 RCV006545713

NM_000548.5(TSC2):c.613C>T (p.Leu205=)

SNV
Germline

Chr16:2056209

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA492956300

rs_1596275276

5 SubmittersRCV000939323 RCV001024930 RCV001814244

NM_000548.5(TSC2):c.926T>A (p.Leu309His)

SNV
Germline

Chr16:2058824

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA056674

rs_75348431

3 SubmittersRCV000935032 RCV002372604 RCV004003268

NM_000548.5(TSC2):c.978C>G (p.Ala326=)

SNV
Germline

Chr16:2060672

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
not specified

Criteria Provided
Conflicting Classifications

CA492960493

rs_1294670888

5 SubmittersRCV000936413 RCV002382134 RCV004003281 RCV005438044

NM_000548.5(TSC2):c.1596G>A (p.Glu532=)

SNV
Germline

Chr16:2064424

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA031176

rs_756466484

5 SubmittersRCV000938117 RCV002400066 RCV003456458 RCV004003300

NM_000368.5(TSC1):c.664-9C>T

SNV
Germline

Chr9:132921445

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA200900999

rs_757752536

4 SubmittersRCV000935644 RCV006261175 RCV006545700

NM_000548.5(TSC2):c.482-4C>T

SNV
Germline

Chr16:2055398

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA052677

rs_780938957

5 SubmittersRCV000945068 RCV001655648 RCV004950087

NM_000548.5(TSC2):c.3815-4G>T

SNV
Germline

Chr16:2082432

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA620378670

rs_1410163756

3 SubmittersRCV001494851 RCV004726736

NM_000548.5(TSC2):c.5069-10G>C

SNV
Germline

Chr16:2088038

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA718904493

rs_1409032179

3 SubmittersRCV001461324 RCV004997519

NM_000548.5(TSC2):c.600-5T>C

SNV
Germline

Chr16:2056191

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA055707

rs_779176291

4 SubmittersRCV001403359 RCV002354784 RCV004003228

NM_000548.5(TSC2):c.2640-4T>C

SNV
Germline

Chr16:2076064

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA915946281

rs_1596366489

6 SubmittersRCV000934607 RCV001016169 RCV004003265

NM_000548.5(TSC2):c.2838-10C>T

SNV
Germline

Chr16:2077588

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA915946286

rs_1596374422

4 SubmittersRCV000945745 RCV002275173 RCV004004341

NM_000368.5(TSC1):c.1860C>T (p.Val620=)

SNV
Germline

Chr9:132905718

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA467813122

rs_1588308756

4 SubmittersRCV000983302 RCV005298664 RCV004777913

NM_000368.5(TSC1):c.1059T>C (p.Cys353=)

SNV
Germline

Chr9:132911084

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Tuberous sclerosis 1
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA467593367

rs_1216537041

6 SubmittersRCV000978335 RCV002409296 RCV002265916 RCV004997541 RCV005047155

NM_000368.5(TSC1):c.770T>A (p.Ile257Asn)

SNV
Germline

Chr9:132912425

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA038850

rs_745640752

3 SubmittersRCV000983883 RCV004950112

NM_000548.5(TSC2):c.3288C>T (p.Ser1096=)

SNV
Germline

Chr16:2079560

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA492955207

rs_1596385627

3 SubmittersRCV001430606 RCV004950102 RCV006545732

NM_000548.5(TSC2):c.4603G>A (p.Asp1535Asn)

SNV
Germline/somatic

Chr16:2085263

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Lymphangiomyomatosis

Criteria Provided
Conflicting Classifications

CA051924

rs_45517353

5 SubmittersRCV000981686 RCV002337030 RCV004004399 RCV005863312

NM_000548.5(TSC2):c.1258-8T>G

SNV
Germline

Chr16:2062489

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA718901844

rs_1175574879

3 SubmittersRCV001463616 RCV003238255

NM_000548.5(TSC2):c.1258-5G>A

SNV
Germline

Chr16:2062492

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA915946235

rs_925954967

2 SubmittersRCV001399821 RCV004584841

NM_000548.5(TSC2):c.400G>T (p.Glu134Ter)

SNV
Unknown

Chr16:2054359

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394306983

rs_1555497641

1 SubmittersRCV000989414

NM_000548.5(TSC2):c.1717-2A>C

SNV
Unknown

Chr16:2070454

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394272616

rs_1596335963

1 SubmittersRCV000989421

NM_000548.5(TSC2):c.2350A>T (p.Lys784Ter)

SNV
Unknown

Chr16:2072978

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394276705

rs_751172150

1 SubmittersRCV000989425

NM_000548.5(TSC2):c.2501C>G (p.Ser834Ter)

SNV
Unknown

Chr16:2074345

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394277837

rs_1596356898

1 SubmittersRCV000989427

NM_000548.5(TSC2):c.4005+1G>A

SNV
Germline

Chr16:2083817

Pathogenic

Tuberous sclerosis 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA394297876

rs_45517324

4 SubmittersRCV000989433 RCV005253664

NM_000548.5(TSC2):c.4005+2T>C

SNV
Unknown

Chr16:2083818

Likely pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394297889

rs_137854254

1 SubmittersRCV000989434

NM_000548.5(TSC2):c.2356-1G>T

SNV
Germline

Chr16:2074199

Pathogenic/Likely pathogenic

Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA394276920

rs_45481704

3 SubmittersRCV000993369 RCV003626650 RCV006287324

NM_000548.5(TSC2):c.4006-1G>C

SNV
Germline

Chr16:2084227

Pathogenic/Likely pathogenic

Condition: not provided
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA394299111

rs_1085307853

3 SubmittersRCV000993371 RCV003512094

NM_000368.5(TSC1):c.1998-2A>C

SNV
Germline

Chr9:132904456

Pathogenic/Likely pathogenic

Condition: not provided
Tuberous sclerosis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA375361551

rs_1057518217

2 SubmittersRCV000999259 RCV003505153

NM_000548.5(TSC2):c.209C>A (p.Thr70Asn)

SNV
Germline

Chr16:2050470

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA276769443

rs_1013995962

5 SubmittersRCV000999527 RCV001235307 RCV002416286 RCV002497316

NM_000548.5(TSC2):c.3874T>C (p.Ser1292Pro)

SNV
Germline

Chr16:2082495

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394295227

rs_1166042912

2 SubmittersRCV001858828 RCV002354904

NM_000548.5(TSC2):c.2377G>T (p.Glu793Ter)

SNV
Germline

Chr16:2074221

Pathogenic

Condition: not provided
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA394277020

rs_1596356248

3 SubmittersRCV001008684 RCV001211891

NM_000368.5(TSC1):c.3417C>A (p.His1139Gln)

SNV
Germline

Chr9:132896313

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA036855

rs_756737864

4 SubmittersRCV001020248 RCV001209377 RCV001759703

NM_000368.5(TSC1):c.2818C>T (p.Gln940Ter)

SNV
Germline

Chr9:132897341

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Tuberous sclerosis syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA375368943

rs_1588290078

5 SubmittersRCV001016672 RCV001250431 RCV002307655

NM_000368.5(TSC1):c.2551C>T (p.Gln851Ter)

SNV
Germline

Chr9:132900789

Pathogenic

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA375370147

rs_1588297391

2 SubmittersRCV001015906 RCV001860807

NM_000368.5(TSC1):c.2117G>A (p.Arg706His)

SNV
Germline

Chr9:132903742

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Condition: not provided

Criteria Provided
Conflicting Classifications

CA375361015

rs_1588304158

5 SubmittersRCV001014317 RCV001299229 RCV003473572 RCV004773219

NM_000368.5(TSC1):c.2033A>T (p.His678Leu)

SNV
Germline

Chr9:132904419

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA200887452

rs_745413532

4 SubmittersRCV001014151 RCV001069932 RCV004998541

NM_000368.5(TSC1):c.1777A>G (p.Arg593Gly)

SNV
Germline

Chr9:132905801

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA375363611

rs_118203581

4 SubmittersRCV001013107 RCV001344396 RCV001766831

NM_000368.5(TSC1):c.1721C>T (p.Thr574Ile)

SNV
Germline

Chr9:132905857

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1

Criteria Provided
Conflicting Classifications

CA200888593

rs_548002938

3 SubmittersRCV001012848 RCV001049618

NM_000368.5(TSC1):c.1720A>G (p.Thr574Ala)

SNV
Germline

Chr9:132905858

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA375363992

rs_1454859974

5 SubmittersRCV001012843 RCV001223997 RCV004004519

NM_000368.5(TSC1):c.1585G>T (p.Ala529Ser)

SNV
Germline

Chr9:132905993

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1

Criteria Provided
Conflicting Classifications

CA375364926

rs_751125011

2 SubmittersRCV001012295 RCV002549365

NM_000368.5(TSC1):c.1562C>T (p.Ser521Leu)

SNV
Germline

Chr9:132906016

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA200888998

rs_759379027

4 SubmittersRCV001012194 RCV001219201 RCV004004507

NM_000368.5(TSC1):c.1078A>C (p.Thr360Pro)

SNV
Germline

Chr9:132911065

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA375367645

rs_201738258

4 SubmittersRCV001009859 RCV001226646 RCV004803345

NM_000368.5(TSC1):c.1026A>G (p.Pro342=)

SNV
Germline

Chr9:132911456

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA467593431

rs_1588324071

6 SubmittersRCV001017014 RCV001421596 RCV004597946

NM_000368.5(TSC1):c.931C>A (p.Pro311Thr)

SNV
Germline

Chr9:132911551

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1

Criteria Provided
Conflicting Classifications

CA375368730

rs_1332186256

3 SubmittersRCV001019167 RCV001203395

NM_000368.5(TSC1):c.591C>T (p.Cys197=)

SNV
Germline

Chr9:132921891

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1

Criteria Provided
Conflicting Classifications

CA467593798

rs_1588347154

2 SubmittersRCV001024684 RCV006556945

NM_000368.5(TSC1):c.391A>G (p.Thr131Ala)

SNV
Germline

Chr9:132923465

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA375373652

rs_1564499857

4 SubmittersRCV001021433 RCV001220081 RCV005255639

NM_000368.5(TSC1):c.291A>G (p.Ile97Met)

SNV
Germline

Chr9:132925659

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Lymphangiomyomatosis
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA375374564

rs_1588355427

4 SubmittersRCV001016931 RCV003988858 RCV004726784

NM_000368.5(TSC1):c.38T>C (p.Met13Thr)

SNV
Germline

Chr9:132928835

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Tuberous sclerosis syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA200902500

rs_1041071543

5 SubmittersRCV001021393 RCV001053574 RCV004004615 RCV004998561

NM_000368.5(TSC1):c.22G>A (p.Gly8Arg)

SNV
Germline

Chr9:132928851

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Tuberous sclerosis 1

Criteria Provided
Conflicting Classifications

CA032066

rs_773784532

3 SubmittersRCV001015114 RCV002479210 RCV002551774

NM_000548.5(TSC2):c.153A>T (p.Glu51Asp)

SNV
Germline

Chr16:2050414

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA031035

rs_746366461

4 SubmittersRCV001011988 RCV001860687 RCV003461322

NM_000548.5(TSC2):c.674T>C (p.Val225Ala)

SNV
Germline

Chr16:2056669

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA394312473

rs_1437259556

3 SubmittersRCV001025611 RCV001221065

NM_000548.5(TSC2):c.707T>C (p.Leu236Pro)

SNV
Germline

Chr16:2056702

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA394312705

rs_1596278377

2 SubmittersRCV001026014 RCV001862350

NM_000548.5(TSC2):c.923G>A (p.Arg308Gln)

SNV
Germline

Chr16:2058821

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA394315408

rs_1213252028

4 SubmittersRCV001019063 RCV001342322 RCV005021329

NM_000548.5(TSC2):c.1169C>T (p.Thr390Met)

SNV
Germline

Chr16:2061920

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394320314

rs_1596303442

4 SubmittersRCV001010094 RCV001210022 RCV004004481

NM_000548.5(TSC2):c.1205G>A (p.Gly402Glu)

SNV
Germline

Chr16:2061956

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA028785

rs_777172185

5 SubmittersRCV001010301 RCV004569867 RCV005093058 RCV006545762

NM_000548.5(TSC2):c.1309G>C (p.Ala437Pro)

SNV
Germline

Chr16:2062548

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA029303

rs_764967942

6 SubmittersRCV001010887 RCV001062574 RCV002223966 RCV004004492

NM_000548.5(TSC2):c.1553G>T (p.Gly518Val)

SNV
Germline

Chr16:2064381

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA394326467

rs_1229407025

5 SubmittersRCV001012096 RCV001056422 RCV004803350 RCV005639235

NM_000548.5(TSC2):c.1676A>T (p.Asp559Val)

SNV
Germline

Chr16:2065595

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA032194

rs_767619776

4 SubmittersRCV001012610 RCV002549372 RCV003332281

NM_000548.5(TSC2):c.1685C>T (p.Thr562Ile)

SNV
Germline

Chr16:2065604

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA394270539

rs_1463643429

5 SubmittersRCV001012729 RCV001321917 RCV004004515 RCV005639236

NM_000548.5(TSC2):c.1729A>G (p.Thr577Ala)

SNV
Germline

Chr16:2070468

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA394272689

rs_1204749633

5 SubmittersRCV001012871 RCV001201908 RCV003327477

NM_000548.5(TSC2):c.2014C>T (p.Pro672Ser)

SNV
Germline

Chr16:2071851

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided
not specified
Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA394274480

rs_1262368552

6 SubmittersRCV001014084 RCV001054876 RCV003117691 RCV003994192 RCV005021326

NM_000548.5(TSC2):c.2096A>G (p.Gln699Arg)

SNV
Germline

Chr16:2071933

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394274732

rs_1596345229

4 SubmittersRCV001014414 RCV001212996 RCV004004532

NM_000548.5(TSC2):c.2849C>T (p.Ala950Val)

SNV
Germline

Chr16:2077609

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA042406

rs_780737734

4 SubmittersRCV001016781 RCV001308492

NM_000548.5(TSC2):c.2884C>G (p.Pro962Ala)

SNV
Germline

Chr16:2077644

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA394281032

rs_1477697117

2 SubmittersRCV001016854 RCV001860843

NM_000548.5(TSC2):c.2901G>T (p.Lys967Asn)

SNV
Germline

Chr16:2077661

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394281176

rs_1168031047

5 SubmittersRCV001016919 RCV001240521 RCV001508400 RCV004004561

NM_000548.5(TSC2):c.2992G>T (p.Ala998Ser)

SNV
Germline

Chr16:2079057

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided
Tuberous sclerosis syndrome
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA394283691

rs_1440361406

6 SubmittersRCV001017831 RCV001239016 RCV001805973 RCV004004568 RCV003461364

NM_000548.5(TSC2):c.3144C>T (p.Gly1048=)

SNV
Germline

Chr16:2079288

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA044597

rs_772640324

5 SubmittersRCV001018805 RCV001055452 RCV002264143 RCV006545773

NM_000548.5(TSC2):c.3192C>G (p.Asn1064Lys)

SNV
Germline

Chr16:2079336

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394285620

rs_201670791

6 SubmittersRCV001019085 RCV001051568 RCV003329362 RCV006545774

NM_000548.5(TSC2):c.3292C>T (p.Pro1098Ser)

SNV
Germline

Chr16:2079564

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA045567

rs_772686090

5 SubmittersRCV001019713 RCV001045100 RCV004004590

NM_000548.5(TSC2):c.3493A>G (p.Lys1165Glu)

SNV
Germline

Chr16:2080260

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA047198

rs_375444767

3 SubmittersRCV001020436 RCV001229307

NM_000548.5(TSC2):c.3505G>A (p.Ala1169Thr)

SNV
Germline

Chr16:2080272

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA047242

rs_773900333

5 SubmittersRCV001020474 RCV001035302 RCV001759705 RCV004803366

NM_000548.5(TSC2):c.3745C>T (p.Leu1249=)

SNV
Germline

Chr16:2081729

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA493043177

rs_1596400436

5 SubmittersRCV001021026 RCV001392364 RCV003325531

NM_000548.5(TSC2):c.3817G>A (p.Ala1273Thr)

SNV
Germline

Chr16:2082438

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394294776

rs_1596404280

5 SubmittersRCV001021222 RCV001226599 RCV003117698 RCV004803370

NM_000548.5(TSC2):c.3835T>C (p.Tyr1279His)

SNV
Germline

Chr16:2082456

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394294880

rs_1449727037

4 SubmittersRCV001021252 RCV001046033 RCV004004612

NM_000548.5(TSC2):c.3867G>C (p.Arg1289Ser)

SNV
Germline

Chr16:2082488

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394295153

rs_1008733639

4 SubmittersRCV001021319 RCV001047548 RCV006545779

NM_000548.5(TSC2):c.3928G>A (p.Val1310Met)

SNV
Germline

Chr16:2083739

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA276752763

rs_1046522975

3 SubmittersRCV001021456 RCV001049677

NM_000548.5(TSC2):c.4485C>G (p.Ile1495Met)

SNV
Germline

Chr16:2084707

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA276753631

rs_1030218603

5 SubmittersRCV001022559 RCV001059810 RCV001567350

NM_000548.5(TSC2):c.4636G>A (p.Ala1546Thr)

SNV
Germline

Chr16:2085296

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA394304918

rs_1332979299

4 SubmittersRCV001022821 RCV001066426 RCV005626299

NM_000548.5(TSC2):c.4795G>C (p.Val1599Leu)

SNV
Germline

Chr16:2086325

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA394308011

rs_772687631

6 SubmittersRCV001023059 RCV001035577 RCV002550880 RCV004570014

NM_000548.5(TSC2):c.4861A>G (p.Ile1621Val)

SNV
Germline

Chr16:2086743

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA394308262

rs_1555516628

5 SubmittersRCV001023167 RCV001067636 RCV001578205 RCV003467673

NM_000548.5(TSC2):c.5209C>G (p.Pro1737Ala)

SNV
Germline

Chr16:2088275

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA394314331

rs_780112037

2 SubmittersRCV001023728 RCV002551879

NM_000548.5(TSC2):c.5219G>C (p.Trp1740Ser)

SNV
Germline

Chr16:2088285

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394314459

rs_137854219

6 SubmittersRCV001023747 RCV001061035 RCV001772198 RCV004004640

NM_000548.5(TSC2):c.5279A>G (p.Tyr1760Cys)

SNV
Germline

Chr16:2088465

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394315180

rs_1261020269

4 SubmittersRCV001023848 RCV001318099 RCV004004641

NM_000368.5(TSC1):c.2503-4T>G

SNV
Germline

Chr9:132900841

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1

Criteria Provided
Conflicting Classifications

CA033190

rs_772414581

3 SubmittersRCV001015735 RCV001413351

NM_000548.5(TSC2):c.2220+5C>T

SNV
Germline

Chr16:2072368

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA620375125

rs_1164941572

3 SubmittersRCV001014840 RCV001305668

NM_000548.5(TSC2):c.3285-3C>A

SNV
Germline

Chr16:2079554

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA045452

rs_781023043

3 SubmittersRCV001019663 RCV001206068

NM_000548.5(TSC2):c.4006-5T>C

SNV
Germline

Chr16:2084223

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA915946301

rs_1596415173

4 SubmittersRCV001021645 RCV002549541 RCV004803373

NM_000548.5(TSC2):c.4850-5C>T

SNV
Germline

Chr16:2086727

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA915946315

rs_1596442866

2 SubmittersRCV001023150 RCV005093229

NM_000548.5(TSC2):c.5161-5C>G

SNV
Germline

Chr16:2088222

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
not specified
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA620705063

rs_775534948

5 SubmittersRCV001023642 RCV001064031 RCV005432531 RCV006545784

NM_000548.5(TSC2):c.5161-5C>T

SNV
Germline

Chr16:2088222

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA054284

rs_775534948

4 SubmittersRCV001023643 RCV003512103 RCV004004638

NM_000368.5(TSC1):c.3325A>G (p.Met1109Val)

SNV
Germline

Chr9:132896405

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA375366614

rs_1845043842

2 SubmittersRCV001045909 RCV002320262

NM_000368.5(TSC1):c.3200T>C (p.Met1067Thr)

SNV
Germline

Chr9:132896530

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA375367041

rs_1167362899

3 SubmittersRCV001062113 RCV003128745 RCV004030445

NM_000368.5(TSC1):c.3115A>C (p.Ser1039Arg)

SNV
Germline

Chr9:132896615

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA375367380

rs_1490199228

4 SubmittersRCV001069522 RCV002320347 RCV004777966 RCV006545873

NM_000368.5(TSC1):c.3074G>A (p.Ser1025Asn)

SNV
Germline

Chr9:132896656

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA375367580

rs_1845081620

3 SubmittersRCV001050580 RCV002319654 RCV004000038

NM_000368.5(TSC1):c.3061C>T (p.Pro1021Ser)

SNV
Germline

Chr9:132896669

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA375367646

rs_1845082934

3 SubmittersRCV001060516 RCV005503003 RCV005436975

NM_000368.5(TSC1):c.2987G>A (p.Cys996Tyr)

SNV
Germline

Chr9:132896743

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA035478

rs_771810884

2 SubmittersRCV001036653 RCV004030995

NM_000368.5(TSC1):c.2935G>A (p.Glu979Lys)

SNV
Germline

Chr9:132897224

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA375368426

rs_1845118974

4 SubmittersRCV001036153 RCV002434429 RCV004803389

NM_000368.5(TSC1):c.2880G>A (p.Leu960=)

SNV
Germline

Chr9:132897279

Conflicting classifications of pathogenicity

Tuberous sclerosis 1

Criteria Provided
Conflicting Classifications

CA467812669

rs_1845126730

2 SubmittersRCV001038241

NM_000368.5(TSC1):c.2841G>C (p.Arg947Ser)

SNV
Germline

Chr9:132897318

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA375368895

rs_1417111404

3 SubmittersRCV001059540 RCV002505623 RCV004031886

NM_000368.5(TSC1):c.2680C>T (p.His894Tyr)

SNV
Germline

Chr9:132897556

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA375369500

rs_1845148693

3 SubmittersRCV001034997 RCV002427478 RCV004570087

NM_000368.5(TSC1):c.2605A>T (p.Lys869Ter)

SNV
Germline

Chr9:132900735

Pathogenic

Tuberous sclerosis 1

Criteria Provided
Single Submitter

CA375369900

rs_1845327789

1 SubmittersRCV001065555

NM_000368.5(TSC1):c.2590G>T (p.Glu864Ter)

SNV
Germline

Chr9:132900750

Pathogenic

Tuberous sclerosis 1

Criteria Provided
Single Submitter

CA375369975

rs_1845328711

1 SubmittersRCV001042431

NM_000368.5(TSC1):c.2413A>G (p.Asn805Asp)

SNV
Germline

Chr9:132901678

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA375358712

rs_1845380748

3 SubmittersRCV001062096 RCV002253766 RCV004678941

NM_000368.5(TSC1):c.2051C>G (p.Pro684Arg)

SNV
Germline

Chr9:132903808

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA375361153

rs_1845511359

3 SubmittersRCV001045691 RCV002416367 RCV003462533

NM_000368.5(TSC1):c.2048C>G (p.Pro683Arg)

SNV
Germline

Chr9:132903811

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA375361158

rs_1413960643

2 SubmittersRCV001044312 RCV005286279

NM_000368.5(TSC1):c.1677C>A (p.Cys559Ter)

SNV
Germline

Chr9:132905901

Pathogenic

Tuberous sclerosis 1

Criteria Provided
Single Submitter

CA375364280

rs_368317116

1 SubmittersRCV001035781

NM_000368.5(TSC1):c.1668C>A (p.Asp556Glu)

SNV
Germline

Chr9:132905910

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA375364342

rs_1845637294

3 SubmittersRCV001035719 RCV002400213 RCV004721713

NM_000368.5(TSC1):c.1327G>A (p.Gly443Arg)

SNV
Germline

Chr9:132907307

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Intellectual disability

Criteria Provided
Conflicting Classifications

CA028063

rs_760470520

6 SubmittersRCV001071789 RCV002307679 RCV004678953 RCV005626325

NM_000368.5(TSC1):c.1166G>A (p.Gly389Glu)

SNV
Germline

Chr9:132910668

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA027210

rs_752575728

4 SubmittersRCV001040683 RCV003372945 RCV004803394

NM_000368.5(TSC1):c.1126G>T (p.Val376Phe)

SNV
Germline

Chr9:132911017

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
not specified
Tuberous sclerosis syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA375367342

rs_1461609607

7 SubmittersRCV001063459 RCV002445329 RCV002479373 RCV003155351 RCV004000134 RCV004998629

NM_000368.5(TSC1):c.886C>T (p.Pro296Ser)

SNV
Germline

Chr9:132912309

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA039361

rs_750890263

3 SubmittersRCV001068118 RCV002276612 RCV003307919

NM_000368.5(TSC1):c.880A>G (p.Thr294Ala)

SNV
Germline

Chr9:132912315

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA375369118

rs_1588326742

4 SubmittersRCV001059923 RCV002374946 RCV004803419

NM_000368.5(TSC1):c.813T>G (p.Tyr271Ter)

SNV
Germline

Chr9:132912382

Pathogenic

Tuberous sclerosis 1
Condition: not provided
See cases

Criteria Provided
Multiple Submitters
No Conflicts

CA375369423

rs_118203452

3 SubmittersRCV001042216 RCV002462271 RCV004584416

NM_000368.5(TSC1):c.806C>A (p.Ala269Asp)

SNV
Germline

Chr9:132912389

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA375369454

rs_1347033062

2 SubmittersRCV001069395 RCV003307930

NM_000368.5(TSC1):c.740G>A (p.Trp247Ter)

SNV
Germline

Chr9:132912455

Pathogenic

Tuberous sclerosis 1
TSC1-related disorder
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA375369745

rs_1846020610

5 SubmittersRCV001052243 RCV004746218 RCV004998609 RCV005298683

NM_000368.5(TSC1):c.641A>G (p.Glu214Gly)

SNV
Germline

Chr9:132921841

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA375372319

rs_1483354391

3 SubmittersRCV001039602 RCV003307817 RCV005408658

NM_000368.5(TSC1):c.298C>T (p.Gln100Ter)

SNV
Germline

Chr9:132925652

Pathogenic

Tuberous sclerosis 1

Criteria Provided
Single Submitter

CA375374538

rs_1846813509

1 SubmittersRCV001038098

NM_000368.5(TSC1):c.125T>A (p.Val42Glu)

SNV
Germline

Chr9:132927286

Likely pathogenic

Tuberous sclerosis 1

Criteria Provided
Single Submitter

CA375375204

rs_1846926218

1 SubmittersRCV001043370

NM_000368.5(TSC1):c.97C>T (p.Leu33Phe)

SNV
Germline

Chr9:132928776

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA375375270

rs_1847031671

4 SubmittersRCV001067609 RCV002379604 RCV004000168 RCV003462604

NM_000548.5(TSC2):c.95A>G (p.Glu32Gly)

SNV
Germline

Chr16:2048710

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394301421

rs_1482573368

2 SubmittersRCV001070398 RCV002379624

NM_000548.5(TSC2):c.178A>G (p.Met60Val)

SNV
Germline

Chr16:2050439

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA276769392

rs_1053960780

2 SubmittersRCV001059775 RCV004031897

NM_000548.5(TSC2):c.311T>C (p.Leu104Pro)

SNV
Germline

Chr16:2053427

Likely pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394305921

rs_2085373985

1 SubmittersRCV001065161

NM_000548.5(TSC2):c.529C>T (p.Leu177Phe)

SNV
Germline

Chr16:2055449

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394309356

rs_867879148

2 SubmittersRCV001054854 RCV004031734

NM_000548.5(TSC2):c.567T>A (p.Cys189Ter)

SNV
Germline

Chr16:2055487

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394309631

rs_2085669104

1 SubmittersRCV001040877

NM_000548.5(TSC2):c.865G>A (p.Ala289Thr)

SNV
Germline

Chr16:2058763

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA056616

rs_750060649

2 SubmittersRCV001045028 RCV002372787

NM_000548.5(TSC2):c.1195G>A (p.Glu399Lys)

SNV
Germline

Chr16:2061946

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA028736

rs_773920155

6 SubmittersRCV001069408 RCV003442199 RCV003353149 RCV003462611 RCV004000184

NM_000548.5(TSC2):c.1389C>G (p.Ile463Met)

SNV
Germline

Chr16:2062999

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394323756

rs_1188230416

5 SubmittersRCV001039016 RCV002391108 RCV003461445 RCV004004723

NM_000548.5(TSC2):c.1391A>G (p.Lys464Arg)

SNV
Germline

Chr16:2063001

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA276778125

rs_1033108057

3 SubmittersRCV001052610 RCV002393264 RCV004803411

NM_000548.5(TSC2):c.1393G>A (p.Val465Met)

SNV
Germline

Chr16:2063003

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA030063

rs_758874054

3 SubmittersRCV001052755 RCV002393267 RCV004803412

NM_000548.5(TSC2):c.1520T>C (p.Leu507Pro)

SNV
Germline

Chr16:2064348

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394326221

rs_1413063599

3 SubmittersRCV001066940 RCV003380838 RCV004000163

NM_000548.5(TSC2):c.1561A>G (p.Thr521Ala)

SNV
Germline

Chr16:2064389

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394326532

rs_1279109316

3 SubmittersRCV001054991 RCV002481995 RCV004950192

NM_000548.5(TSC2):c.1562C>G (p.Thr521Arg)

SNV
Germline

Chr16:2064390

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA394326543

rs_1378972928

4 SubmittersRCV001049327 RCV002400278 RCV003128740

NM_000548.5(TSC2):c.1591A>G (p.Ile531Val)

SNV
Germline

Chr16:2064419

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA394326754

rs_1309168496

3 SubmittersRCV001071161 RCV002402484 RCV005021425

NM_000548.5(TSC2):c.1594G>C (p.Glu532Gln)

SNV
Germline

Chr16:2064422

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA031157

rs_149222396

5 SubmittersRCV001039944 RCV001772222 RCV002400234 RCV006545803

NM_000548.5(TSC2):c.1636G>T (p.Glu546Ter)

SNV
Germline

Chr16:2065555

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394267832

rs_2087230941

1 SubmittersRCV001044510

NM_000548.5(TSC2):c.1652C>T (p.Ala551Val)

SNV
Germline

Chr16:2065571

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Lymphangiomyomatosis
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394267993

rs_1465307943

5 SubmittersRCV001042603 RCV002481897 RCV003160290 RCV003457916 RCV004004752

NM_000548.5(TSC2):c.1663G>C (p.Ala555Pro)

SNV
Germline

Chr16:2065582

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Lymphangiomyomatosis
not specified

Criteria Provided
Conflicting Classifications

CA032134

rs_763183991

6 SubmittersRCV001042973 RCV002400249 RCV003461460 RCV004803398 RCV005021360 RCV006269286

NM_000548.5(TSC2):c.1729A>T (p.Thr577Ser)

SNV
Germline

Chr16:2070468

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394272687

rs_1204749633

3 SubmittersRCV001045957 RCV002400264 RCV004803404

NM_000548.5(TSC2):c.1748C>T (p.Ala583Val)

SNV
Germline

Chr16:2070487

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
TSC2-related disorder

Criteria Provided
Conflicting Classifications

CA033283

rs_763863196

7 SubmittersRCV001041472 RCV001578178 RCV002400245 RCV004004741 RCV004735934

NM_000548.5(TSC2):c.1753C>G (p.Arg585Gly)

SNV
Germline

Chr16:2070492

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA394272814

rs_370324876

4 SubmittersRCV001060310 RCV002402431 RCV002489661 RCV004726849

NM_000548.5(TSC2):c.1762G>T (p.Glu588Ter)

SNV
Germline

Chr16:2070501

Pathogenic

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA394272860

rs_1596336374

2 SubmittersRCV001050047 RCV002409428

NM_000548.5(TSC2):c.1897A>C (p.Asn633His)

SNV
Germline

Chr16:2071567

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394273143

rs_1462660984

2 SubmittersRCV001049821 RCV003307851

NM_000548.5(TSC2):c.1933G>T (p.Val645Phe)

SNV
Germline

Chr16:2071603

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA034596

rs_746677177

5 SubmittersRCV001039993 RCV002258095 RCV003328646 RCV003461450

NM_000548.5(TSC2):c.1984C>T (p.Pro662Ser)

SNV
Germline

Chr16:2071821

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394274386

rs_1309151152

3 SubmittersRCV001044607 RCV004004772 RCV005502984

NM_000548.5(TSC2):c.2048C>A (p.Ser683Tyr)

SNV
Germline

Chr16:2071885

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Lymphangiomyomatosis
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA276737795

rs_919334398

3 SubmittersRCV001064910 RCV005021406 RCV005512893

NM_000548.5(TSC2):c.2144A>C (p.Glu715Ala)

SNV
Germline

Chr16:2072287

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA276738276

rs_763351805

3 SubmittersRCV001070107 RCV002429741 RCV003462614

NM_000548.5(TSC2):c.2196G>C (p.Gln732His)

SNV
Germline

Chr16:2072339

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
TSC2-related disorder

Criteria Provided
Conflicting Classifications

CA037063

rs_765646245

5 SubmittersRCV001044049 RCV002416360 RCV004803400 RCV004726823

NM_000548.5(TSC2):c.2327A>G (p.Tyr776Cys)

SNV
Germline

Chr16:2072955

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA038405

rs_766382381

2 SubmittersRCV001051826 RCV005749708

NM_000548.5(TSC2):c.2330A>G (p.His777Arg)

SNV
Germline

Chr16:2072958

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA038433

rs_759528809

6 SubmittersRCV001047125 RCV001759768 RCV002451188 RCV004004784

NM_000548.5(TSC2):c.2351A>G (p.Lys784Arg)

SNV
Germline

Chr16:2072979

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA394276707

rs_1489548085

4 SubmittersRCV001053242 RCV002445284 RCV004000060 RCV006261302

NM_000548.5(TSC2):c.2355G>A (p.Gln785=)

SNV
Germline

Chr16:2072983

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA492952751

rs_2088708544

6 SubmittersRCV001036320 RCV001509506 RCV005056807

NM_000548.5(TSC2):c.2564A>G (p.His855Arg)

SNV
Germline

Chr16:2075817

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA394278326

rs_1424946987

3 SubmittersRCV001034957 RCV002427477 RCV005232067

NM_000548.5(TSC2):c.2572A>G (p.Arg858Gly)

SNV
Germline

Chr16:2075825

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394278352

rs_2089261730

3 SubmittersRCV001049089 RCV005286285 RCV006545824

NM_000548.5(TSC2):c.2600G>A (p.Ser867Asn)

SNV
Germline

Chr16:2075853

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA040228

rs_751702841

2 SubmittersRCV001045618 RCV002429609

NM_000548.5(TSC2):c.2623T>G (p.Tyr875Asp)

SNV
Germline

Chr16:2075876

Likely pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394278455

rs_2089272680

1 SubmittersRCV001050170

NM_000548.5(TSC2):c.2632C>G (p.Pro878Ala)

SNV
Germline

Chr16:2075885

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA276741564

rs_397515077

3 SubmittersRCV001071989 RCV002451312 RCV003992440

NM_000548.5(TSC2):c.2656G>A (p.Val886Met)

SNV
Germline

Chr16:2076084

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome
Condition: not provided
Congenital anomaly of kidney and urinary tract

Criteria Provided
Conflicting Classifications

CA276741693

rs_999523698

6 SubmittersRCV001045541 RCV003307839 RCV003462532 RCV004004778 RCV004590050 RCV005626308

NM_000548.5(TSC2):c.2915C>T (p.Ala972Val)

SNV
Germline

Chr16:2077675

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394281289

rs_2089590552

2 SubmittersRCV001059121 RCV004031866

NM_000548.5(TSC2):c.2920G>A (p.Ala974Thr)

SNV
Germline

Chr16:2077680

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA276743978

rs_556778889

2 SubmittersRCV001053966 RCV002436612

NM_000548.5(TSC2):c.2944G>T (p.Val982Leu)

SNV
Germline

Chr16:2077704

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA042926

rs_773864188

4 SubmittersRCV001049127 RCV004004792 RCV004678914 RCV004998606

NM_000548.5(TSC2):c.2964C>T (p.Arg988=)

SNV
Germline

Chr16:2077724

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Acute myeloid leukemia

Criteria Provided
Conflicting Classifications

CA043060

rs_757274577

4 SubmittersRCV001037965 RCV003380804 RCV006545798 RCV005603682

NM_000548.5(TSC2):c.3002G>T (p.Gly1001Val)

SNV
Germline

Chr16:2079067

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA043753

rs_368878445

2 SubmittersRCV001041579 RCV002436554

NM_000548.5(TSC2):c.3096A>G (p.Arg1032=)

SNV
Germline

Chr16:2079161

Likely pathogenic

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA493042763

rs_2089803859

2 SubmittersRCV001056118 RCV004031775

NM_000548.5(TSC2):c.3193A>C (p.Lys1065Gln)

SNV
Germline

Chr16:2079337

Conflicting classifications of pathogenicity

Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA044710

rs_751955670

3 SubmittersRCV001059859

NM_000548.5(TSC2):c.3298G>A (p.Val1100Met)

SNV
Germline

Chr16:2079570

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis

Criteria Provided
Conflicting Classifications

CA394286490

rs_1596385749

4 SubmittersRCV001051401 RCV002451212 RCV004000044 RCV005021375

NM_000548.5(TSC2):c.3725A>G (p.Lys1242Arg)

SNV
Germline

Chr16:2081709

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394292811

rs_1567510728

3 SubmittersRCV001071626 RCV002348488 RCV006545882

NM_000548.5(TSC2):c.3778A>G (p.Thr1260Ala)

SNV
Germline

Chr16:2081762

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394293377

rs_1310948800

3 SubmittersRCV001037138 RCV001119240

NM_000548.5(TSC2):c.3830C>T (p.Ser1277Phe)

SNV
Germline

Chr16:2082451

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394294865

rs_1330915229

3 SubmittersRCV001059042 RCV004000108 RCV004678934

NM_000548.5(TSC2):c.3977T>C (p.Met1326Thr)

SNV
Germline

Chr16:2083788

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis

Criteria Provided
Conflicting Classifications

CA394297583

rs_2090429801

3 SubmittersRCV001051800 RCV002374909 RCV002481965

NM_000548.5(TSC2):c.4051G>T (p.Glu1351Ter)

SNV
Germline

Chr16:2084273

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394299330

rs_878854101

1 SubmittersRCV001069106

NM_000548.5(TSC2):c.4090T>G (p.Ser1364Ala)

SNV
Germline

Chr16:2084312

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394299461

rs_756957699

4 SubmittersRCV001053848 RCV002320295 RCV004000064

NM_000548.5(TSC2):c.4207G>T (p.Asp1403Tyr)

SNV
Germline

Chr16:2084429

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394299923

rs_1288307487

2 SubmittersRCV001069476 RCV004030714

NM_000548.5(TSC2):c.4246G>T (p.Ala1416Ser)

SNV
Germline

Chr16:2084468

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis

Criteria Provided
Conflicting Classifications

CA276753373

rs_1001211672

3 SubmittersRCV001057820 RCV002327326 RCV005021393

NM_000548.5(TSC2):c.4279A>G (p.Ser1427Gly)

SNV
Germline

Chr16:2084501

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394300822

rs_1248855623

4 SubmittersRCV001038396 RCV003307814

NM_000548.5(TSC2):c.4635C>G (p.Ile1545Met)

SNV
Germline

Chr16:2085295

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394304898

rs_757388437

3 SubmittersRCV001040088 RCV001813810 RCV002339198

NM_000548.5(TSC2):c.4659C>T (p.Gly1553=)

SNV
Germline

Chr16:2085319

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA276755061

rs_202212109

4 SubmittersRCV001035239 RCV002327245 RCV003226995 RCV004803387

NM_000548.5(TSC2):c.4722C>G (p.Phe1574Leu)

SNV
Germline

Chr16:2086252

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394307501

rs_565576095

2 SubmittersRCV001064798 RCV002339323

NM_000548.5(TSC2):c.4727C>A (p.Thr1576Lys)

SNV
Germline

Chr16:2086257

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA052372

rs_45437192

4 SubmittersRCV001040921 RCV002339202 RCV004004738

NM_000548.5(TSC2):c.4739G>A (p.Arg1580Gln)

SNV
Germline

Chr16:2086269

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394307634

rs_1371745883

3 SubmittersRCV001037835 RCV002337101 RCV004803392

NM_000548.5(TSC2):c.4886A>G (p.Asp1629Gly)

SNV
Germline

Chr16:2086768

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA053023

rs_767444397

4 SubmittersRCV001047283 RCV002339238 RCV003462537

NM_000548.5(TSC2):c.5067A>G (p.Lys1689=)

SNV
Germline

Chr16:2087940

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA276758652

rs_1018327394

4 SubmittersRCV001070084 RCV002348482 RCV004998636 RCV005012530

NM_000548.5(TSC2):c.5071A>G (p.Met1691Val)

SNV
Germline

Chr16:2088050

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA053878

rs_767809848

4 SubmittersRCV001039326 RCV002339196 RCV004998588 RCV006554602

NM_000548.5(TSC2):c.5117G>T (p.Arg1706Leu)

SNV
Germline

Chr16:2088096

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394312358

rs_45517392

2 SubmittersRCV001048043 RCV002348383

NM_000548.5(TSC2):c.5309C>T (p.Pro1770Leu)

SNV
Germline

Chr16:2088495

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394315411

rs_771357054

2 SubmittersRCV001059633 RCV003353135

NM_000548.5(TSC2):c.5377C>T (p.Arg1793Trp)

SNV
Germline

Chr16:2088563

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394315971

rs_1473538868

4 SubmittersRCV001066607 RCV001788415 RCV002348463

NM_000548.5(TSC2):c.5381A>G (p.Lys1794Arg)

SNV
Germline

Chr16:2088567

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA055265

rs_756064266

3 SubmittersRCV001064564 RCV002348458 RCV004803424

NM_000548.5(TSC2):c.1947-2A>C

SNV
Germline

Chr16:2071782

Pathogenic/Likely pathogenic

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA394273528

rs_45517207

2 SubmittersRCV001036353 RCV006287328

NM_000548.5(TSC2):c.5069-3C>T

SNV
Germline

Chr16:2088045

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA916081799

rs_2091085832

3 SubmittersRCV001058085 RCV004000097 RCV004678932

NM_000368.5(TSC1):c.2813+2T>G

SNV
Germline

Chr9:132897421

Likely pathogenic

Tuberous sclerosis 1

Criteria Provided
Single Submitter

CA375368967

rs_1845135533

1 SubmittersRCV001048055

NM_000548.5(TSC2):c.4662+1G>C

SNV
Germline

Chr16:2085323

Likely pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394305126

rs_45514095

1 SubmittersRCV001065003

NM_000368.5(TSC1):c.1439-7C>A

SNV
Germline

Chr9:132906146

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA916081571

rs_1588311354

2 SubmittersRCV001052142 RCV004000048

NM_000548.5(TSC2):c.139-2A>G

SNV
Germline

Chr16:2050398

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA394303037

rs_2084954667

2 SubmittersRCV001069910

NM_000548.5(TSC2):c.1840-6T>A

SNV
Germline

Chr16:2071504

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Tuberous sclerosis syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA916081760

rs_747952317

4 SubmittersRCV001068290 RCV004000175 RCV004797899

NM_000548.5(TSC2):c.3284+3G>A

SNV
Germline

Chr16:2079431

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA916081789

rs_2089847916

3 SubmittersRCV001067398 RCV002445348

NM_000548.5(TSC2):c.5259+4G>A

SNV
Germline

Chr16:2088329

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA916081801

rs_2091153561

2 SubmittersRCV001065630 RCV003326536

NM_000548.5(TSC2):c.540G>A (p.Leu180=)

SNV
Germline

Chr16:2055460

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA492955795

rs_1567403619

5 SubmittersRCV001340217 RCV004000214 RCV004678954

NM_000548.5(TSC2):c.1361+1G>T

SNV
Germline

Chr16:2062601

Pathogenic/Likely pathogenic

Condition: not provided
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA394323421

rs_45517164

2 SubmittersRCV001091439 RCV003130153

NM_000548.5(TSC2):c.1821G>C (p.Ala607=)

SNV
Germline

Chr16:2070560

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA492949893

rs_149543046

3 SubmittersRCV001119051 RCV005093538

NM_000548.5(TSC2):c.3945A>G (p.Pro1315=)

SNV
Germline

Chr16:2083756

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA492956580

rs_1811018177

4 SubmittersRCV001116327 RCV002069874 RCV004950294

NM_000548.5(TSC2):c.848+5G>T

SNV
Germline

Chr16:2057183

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA912995563

rs_1370989559

3 SubmittersRCV001117343 RCV002556497 RCV002445389

NM_000548.5(TSC2):c.2545+3G>A

SNV
Germline

Chr16:2074392

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA1139664315

rs_2088950824

2 SubmittersRCV001121134 RCV005621077

NM_000548.5(TSC2):c.5259+15G>A

SNV
Germline

Chr16:2088340

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA054621

rs_373209496

2 SubmittersRCV001117885 RCV002069903

NM_000368.5(TSC1):c.*4680G>T

SNV
Germline

Chr9:132891555

Conflicting classifications of pathogenicity

Isolated focal cortical dysplasia type II
Tuberous sclerosis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA200921734

rs_747969932

2 SubmittersRCV001168286 RCV001166550 RCV003433070

NM_000368.5(TSC1):c.*1355C>A

SNV
Germline

Chr9:132894880

Conflicting classifications of pathogenicity

Isolated focal cortical dysplasia type II
Tuberous sclerosis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA200924544

rs_749683153

2 SubmittersRCV001168584 RCV001168585 RCV003425974

NM_000548.5(TSC2):c.965C>A (p.Ser322Ter)

SNV
Germline

Chr16:2058863

Pathogenic

Tuberous sclerosis 2

No Assertion Criteria Provided

CA394315788

rs_1345813917

1 SubmittersRCV001194692

NM_000548.5(TSC2):c.4672G>T (p.Glu1558Ter)

SNV
Germline

Chr16:2086202

Pathogenic

Tuberous sclerosis 2
TSC2-related disorder

Criteria Provided
Single Submitter

CA394306927

rs_45517360

2 SubmittersRCV001194688 RCV004538431

NM_000548.5(TSC2):c.1119+129G>T

SNV
Germline

Chr16:2060942

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA1139664338

rs_1001221917

1 SubmittersRCV002267081

NM_000548.5(TSC2):c.3132-13C>T

SNV
Germline

Chr16:2079263

Conflicting classifications of pathogenicity

Lymphangiomyomatosis
Condition: not provided
Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA044431

rs_371948435

5 SubmittersRCV001196191 RCV001562061 RCV002071848 RCV006545927

NM_000548.5(TSC2):c.3132-3T>C

SNV
Germline

Chr16:2079273

Conflicting classifications of pathogenicity

Lymphangiomyomatosis
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1139664248

rs_2089821106

3 SubmittersRCV001197802 RCV003512110 RCV005512929

NM_000368.5(TSC1):c.2101C>T (p.Gln701Ter)

SNV
Germline

Chr9:132903758

Pathogenic

Tuberous sclerosis 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA375361051

rs_1845504382

3 SubmittersRCV001199386 RCV001508277

NM_000368.5(TSC1):c.1996A>T (p.Lys666Ter)

SNV
Germline

Chr9:132905582

Likely pathogenic

Tuberous sclerosis 1

Criteria Provided
Single Submitter

CA375362214

rs_1845604585

2 SubmittersRCV001199385

NM_000368.5(TSC1):c.664-2A>G

SNV
Germline

Chr9:132921438

Pathogenic

Tuberous sclerosis 1

No Assertion Criteria Provided

CA375371557

rs_1846550204

1 SubmittersRCV001199395

NM_000368.5(TSC1):c.364-2A>G

SNV
Germline

Chr9:132923494

Pathogenic/Likely pathogenic

Tuberous sclerosis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA375373792

rs_1846685279

3 SubmittersRCV001199393

NM_000368.5(TSC1):c.3394C>T (p.Pro1132Ser)

SNV
Germline

Chr9:132896336

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Tuberous sclerosis 1
Tuberous sclerosis syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA375366460

rs_1249897804

5 SubmittersRCV001223518 RCV002451523 RCV002480737 RCV004004798 RCV006258461

NM_000368.5(TSC1):c.3327G>T (p.Met1109Ile)

SNV
Germline

Chr9:132896403

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA375366607

rs_1845043593

4 SubmittersRCV001222947 RCV004679009

NM_000368.5(TSC1):c.3268A>G (p.Met1090Val)

SNV
Germline

Chr9:132896462

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA036285

rs_776694051

4 SubmittersRCV001216992 RCV001751408 RCV003163667

NM_000368.5(TSC1):c.2644G>A (p.Ala882Thr)

SNV
Germline

Chr9:132897592

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA375369652

rs_1271658593

2 SubmittersRCV001222026 RCV004679008

NM_000368.5(TSC1):c.1756T>C (p.Cys586Arg)

SNV
Germline

Chr9:132905822

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA029644

rs_760356610

2 SubmittersRCV001218659 RCV004032335

NM_000368.5(TSC1):c.1681A>G (p.Ser561Gly)

SNV
Germline

Chr9:132905897

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
TSC1-related disorder
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA375364250

rs_1845635382

3 SubmittersRCV001217549 RCV004726981 RCV005762208

NM_000368.5(TSC1):c.1255C>G (p.Pro419Ala)

SNV
Germline

Chr9:132910579

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA027469

rs_765145057

2 SubmittersRCV001214224 RCV004033925

NM_000548.5(TSC2):c.298G>A (p.Ala100Thr)

SNV
Germline

Chr16:2053414

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA043637

rs_369314296

4 SubmittersRCV001222030 RCV002436859 RCV004803577 RCV005021526

NM_000548.5(TSC2):c.518C>T (p.Ser173Phe)

SNV
Germline

Chr16:2055438

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA054357

rs_773662047

3 SubmittersRCV001220756 RCV002339583 RCV004010736

NM_000548.5(TSC2):c.582C>G (p.Tyr194Ter)

SNV
Germline

Chr16:2055502

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394309794

rs_750174170

1 SubmittersRCV001224397

NM_000548.5(TSC2):c.897G>A (p.Val299=)

SNV
Germline

Chr16:2058795

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA492959654

rs_1382139812

5 SubmittersRCV001215924 RCV002447089 RCV004010706 RCV004699204

NM_000548.5(TSC2):c.900C>T (p.Gly300=)

SNV
Germline

Chr16:2058798

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA492959666

rs_1415187475

4 SubmittersRCV001224868 RCV002375216 RCV004004805

NM_000548.5(TSC2):c.1049G>A (p.Arg350Lys)

SNV
Germline

Chr16:2060743

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394317802

rs_1567423240

4 SubmittersRCV001222189 RCV001751427 RCV002393537

NM_000548.5(TSC2):c.1095C>G (p.Ile365Met)

SNV
Germline

Chr16:2060789

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394318218

rs_757135168

4 SubmittersRCV001224443 RCV002451527 RCV004803579

NM_000548.5(TSC2):c.1619C>T (p.Ser540Phe)

SNV
Germline

Chr16:2065538

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394267686

rs_1296271407

3 SubmittersRCV001223052 RCV002402691 RCV004010747

NM_000548.5(TSC2):c.2608G>C (p.Ala870Pro)

SNV
Germline

Chr16:2075861

Likely pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394278427

rs_1060500975

1 SubmittersRCV001218321

NM_000548.5(TSC2):c.2639A>G (p.Lys880Arg)

SNV
Germline

Chr16:2075892

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA394278487

rs_2089276233

4 SubmittersRCV001218754 RCV003163679 RCV004010723 RCV004726988

NM_000548.5(TSC2):c.2780C>A (p.Thr927Asn)

SNV
Germline

Chr16:2076528

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA276742096

rs_144329595

9 SubmittersRCV001224033 RCV001587251 RCV002255633 RCV002491707 RCV004004804

NM_000548.5(TSC2):c.3239T>A (p.Leu1080Ter)

SNV
Germline

Chr16:2079383

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394286063

rs_2089838149

1 SubmittersRCV001223302

NM_000548.5(TSC2):c.3281C>A (p.Ser1094Ter)

SNV
Germline

Chr16:2079425

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394286305

rs_397514887

1 SubmittersRCV001223699

NM_000548.5(TSC2):c.4049A>T (p.Glu1350Val)

SNV
Germline

Chr16:2084271

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
TSC2-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA394299324

rs_1378842608

4 SubmittersRCV001221723 RCV002322074 RCV004528422 RCV004726995

NM_000548.5(TSC2):c.4423G>A (p.Val1475Ile)

SNV
Germline

Chr16:2084645

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA394302176

rs_1202676769

5 SubmittersRCV001214846 RCV001773479 RCV002327498 RCV003462728

NM_000548.5(TSC2):c.4473A>C (p.Lys1491Asn)

SNV
Germline

Chr16:2084695

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394302529

rs_1266546987

2 SubmittersRCV001218203 RCV004950361

NM_000548.5(TSC2):c.4550C>T (p.Pro1517Leu)

SNV
Germline

Chr16:2085007

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394303002

rs_1279603512

3 SubmittersRCV001222211 RCV003163715 RCV004010744

NM_000548.5(TSC2):c.4715C>T (p.Thr1572Met)

SNV
Germline

Chr16:2086245

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Lymphangiomyomatosis
Ovarian cancer
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394307430

rs_1327099376

5 SubmittersRCV001219284 RCV002504273 RCV003153948 RCV003163686 RCV004010725

NM_000548.5(TSC2):c.4998C>G (p.Phe1666Leu)

SNV
Germline

Chr16:2087871

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394310991

rs_757221445

2 SubmittersRCV001225081 RCV004032529

NM_000548.5(TSC2):c.5030A>C (p.Asp1677Ala)

SNV
Germline

Chr16:2087903

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394311303

rs_1332296997

3 SubmittersRCV001218024 RCV004034054 RCV006545988

NM_000548.5(TSC2):c.5080C>T (p.Leu1694Phe)

SNV
Germline

Chr16:2088059

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA053886

rs_760781650

3 SubmittersRCV001223544 RCV004004799 RCV004951355

NM_000548.5(TSC2):c.5288C>T (p.Pro1763Leu)

SNV
Germline

Chr16:2088474

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA054957

rs_781139561

5 SubmittersRCV001216691 RCV003380888 RCV004570484 RCV006554611

NM_000548.5(TSC2):c.5309C>G (p.Pro1770Arg)

SNV
Germline

Chr16:2088495

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA055029

rs_771357054

3 SubmittersRCV001214576 RCV003462727 RCV004033932

NM_000551.4(VHL):c.264G>A (p.Trp88Ter)

SNV
Germline

Chr3:10142111

Pathogenic

Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Von Hippel-Lindau syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA351750677

rs_869025622

5 SubmittersRCV001205532 RCV003163557 RCV005863372 RCV005863371 RCV006450904

NM_000368.5(TSC1):c.2263C>T (p.Gln755Ter)

SNV
Germline

Chr9:132902733

Pathogenic

Tuberous sclerosis 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA375359853

rs_1845452711

2 SubmittersRCV001207537 RCV004998723

NM_000368.5(TSC1):c.2068A>G (p.Thr690Ala)

SNV
Germline

Chr9:132903791

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis 1
Lymphangiomyomatosis

Criteria Provided
Conflicting Classifications

CA031090

rs_752473063

3 SubmittersRCV001213498 RCV002418730 RCV002497727

NM_000368.5(TSC1):c.1939G>T (p.Glu647Ter)

SNV
Germline

Chr9:132905639

Pathogenic

Tuberous sclerosis 1

Criteria Provided
Single Submitter

CA375362535

rs_1171512070

1 SubmittersRCV001211168

NM_000368.5(TSC1):c.1687G>A (p.Asp563Asn)

SNV
Germline

Chr9:132905891

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA375364210

rs_1554815931

2 SubmittersRCV001201526 RCV002402568

NM_000368.5(TSC1):c.1336G>T (p.Glu446Ter)

SNV
Germline

Chr9:132906833

Pathogenic

Tuberous sclerosis 1

Criteria Provided
Single Submitter

CA375366056

rs_1845700817

1 SubmittersRCV001204979

NM_000368.5(TSC1):c.863G>A (p.Arg288His)

SNV
Germline

Chr9:132912332

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA375369190

rs_1424366444

2 SubmittersRCV001206492 RCV004033674

NM_000368.5(TSC1):c.698T>G (p.Leu233Ter)

SNV
Germline

Chr9:132921402

Pathogenic

Tuberous sclerosis 1

Criteria Provided
Single Submitter

CA375371373

rs_1846545578

1 SubmittersRCV001208764

NM_000368.5(TSC1):c.611G>A (p.Arg204His)

SNV
Germline

Chr9:132921871

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA375372466

rs_397514834

5 SubmittersRCV001203672 RCV006455518 RCV002356876 RCV003469328

NM_000368.5(TSC1):c.193C>T (p.Gln65Ter)

SNV
Germline

Chr9:132927218

Pathogenic

Tuberous sclerosis 1

Criteria Provided
Single Submitter

CA375375058

rs_1846915941

1 SubmittersRCV001211811

NM_000368.5(TSC1):c.191T>A (p.Leu64Ter)

SNV
Germline

Chr9:132927220

Pathogenic

Tuberous sclerosis 1

Criteria Provided
Single Submitter

CA375375065

rs_1846916239

1 SubmittersRCV001208919

NM_000548.5(TSC2):c.1168A>T (p.Thr390Ser)

SNV
Germline

Chr16:2061919

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394320291

rs_2086688013

2 SubmittersRCV001213112 RCV002327495

NM_000548.5(TSC2):c.1671G>A (p.Leu557=)

SNV
Germline

Chr16:2065590

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA032181

rs_761975891

4 SubmittersRCV001209493 RCV002402618 RCV002497718

NM_000548.5(TSC2):c.1714C>T (p.Gln572Ter)

SNV
Germline

Chr16:2065633

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394270749

rs_2087242404

1 SubmittersRCV001213734

NM_000548.5(TSC2):c.2389A>G (p.Ile797Val)

SNV
Germline

Chr16:2074233

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394277059

rs_1240217406

3 SubmittersRCV001212091 RCV004678995

NM_000548.5(TSC2):c.3662C>T (p.Ser1221Leu)

SNV
Germline

Chr16:2081646

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
TSC2-related disorder

Criteria Provided
Conflicting Classifications

CA394292082

rs_45517305

3 SubmittersRCV001213568 RCV004033893 RCV004734054

NM_000548.5(TSC2):c.3911G>T (p.Ser1304Ile)

SNV
Germline

Chr16:2083722

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA049568

rs_751564566

2 SubmittersRCV001209153 RCV004950336

NM_000548.5(TSC2):c.4007C>G (p.Ser1336Trp)

SNV
Germline

Chr16:2084229

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA394299127

rs_148527903

3 SubmittersRCV001207908 RCV002375148 RCV003462695

NM_000548.5(TSC2):c.4039C>T (p.Leu1347Phe)

SNV
Germline

Chr16:2084261

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394299285

rs_377050648

3 SubmittersRCV004774291 RCV001204182 RCV004033604

NM_000548.5(TSC2):c.4282G>A (p.Ala1428Thr)

SNV
Germline

Chr16:2084504

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA050758

rs_764533757

6 SubmittersRCV001213793 RCV001773477 RCV003163630 RCV004010697

NM_000548.5(TSC2):c.4303G>T (p.Glu1435Ter)

SNV
Germline

Chr16:2084525

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394301186

rs_1441136255

1 SubmittersRCV001211770

NM_000548.5(TSC2):c.4442A>G (p.Lys1481Arg)

SNV
Germline

Chr16:2084664

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA394302335

rs_2090538754

3 SubmittersRCV001211539 RCV002327488 RCV006258441

NM_000548.5(TSC2):c.4534G>C (p.Asp1512His)

SNV
Germline

Chr16:2084991

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA051534

rs_774441486

3 SubmittersRCV001212693 RCV003294027 RCV004570464

NM_000548.5(TSC2):c.5107G>A (p.Val1703Met)

SNV
Germline

Chr16:2088086

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394312247

rs_2091092273

3 SubmittersRCV001202381 RCV002348655 RCV006545932

NM_000548.5(TSC2):c.5365G>A (p.Glu1789Lys)

SNV
Germline

Chr16:2088551

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394315853

rs_45517420

2 SubmittersRCV001211501 RCV006287355

NM_000368.5(TSC1):c.1439-1G>C

SNV
Germline

Chr9:132906140

Likely pathogenic

Tuberous sclerosis 1

Criteria Provided
Single Submitter

CA375365642

rs_397514804

1 SubmittersRCV001211307

NM_000368.5(TSC1):c.1141+1G>A

SNV
Germline

Chr9:132911001

Likely pathogenic

Tuberous sclerosis 1

Criteria Provided
Single Submitter

CA375367291

rs_397514819

1 SubmittersRCV001205503

NM_000368.5(TSC1):c.106+4A>G

SNV
Germline

Chr9:132928763

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA200902496

rs_373075566

4 SubmittersRCV001204051 RCV002402582 RCV003473742 RCV004010634

NM_000548.5(TSC2):c.2742+4G>T

SNV
Germline

Chr16:2076174

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1139664239

rs_587781683

2 SubmittersRCV001213457 RCV004678998

NM_000548.5(TSC2):c.3884-3C>T

SNV
Germline

Chr16:2083692

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA1139664279

rs_2090415795

3 SubmittersRCV001210506 RCV003294018 RCV006545964

NM_000548.5(TSC2):c.3397+6C>G

SNV
Germline

Chr16:2079675

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Lymphangiomyomatosis

Criteria Provided
Conflicting Classifications

CA276746227

rs_955636757

2 SubmittersRCV001223234 RCV005021533

NM_000368.5(TSC1):c.3337C>A (p.Leu1113Ile)

SNV
Germline

Chr9:132896393

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA375366586

rs_1449696743

2 SubmittersRCV001233093 RCV004951389

NM_000368.5(TSC1):c.2884A>G (p.Ile962Val)

SNV
Germline

Chr9:132897275

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1

Criteria Provided
Conflicting Classifications

CA375368791

rs_1227198324

2 SubmittersRCV003294108 RCV001232734

NM_000368.5(TSC1):c.2635A>G (p.Met879Val)

SNV
Germline

Chr9:132897601

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA034033

rs_778416424

5 SubmittersRCV001227729 RCV001575745 RCV002429969 RCV003473792

NM_000368.5(TSC1):c.2272C>A (p.Gln758Lys)

SNV
Germline

Chr9:132902724

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Tuberous sclerosis 1
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA375359815

rs_397514783

4 SubmittersRCV001229466 RCV004679017 RCV004004831 RCV005050298

NM_000368.5(TSC1):c.2254G>A (p.Val752Ile)

SNV
Germline

Chr9:132902742

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA031994

rs_765643529

2 SubmittersRCV001235826 RCV003166459

NM_000368.5(TSC1):c.2112T>G (p.Tyr704Ter)

SNV
Germline

Chr9:132903747

Pathogenic

Tuberous sclerosis 1

Criteria Provided
Single Submitter

CA375361028

rs_118203646

1 SubmittersRCV001235747

NM_000368.5(TSC1):c.1624A>T (p.Lys542Ter)

SNV
Germline

Chr9:132905954

Pathogenic

Tuberous sclerosis 1

Criteria Provided
Single Submitter

CA375364632

rs_1845641716

1 SubmittersRCV001236469

NM_000368.5(TSC1):c.1597C>A (p.Pro533Thr)

SNV
Germline

Chr9:132905981

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1

Criteria Provided
Conflicting Classifications

CA375364822

rs_1331420425

2 SubmittersRCV004679018 RCV001229842

NM_000368.5(TSC1):c.1114C>G (p.Pro372Ala)

SNV
Germline

Chr9:132911029

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Tuberous sclerosis 1
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA027091

rs_760638759

4 SubmittersRCV001230625 RCV002436895 RCV002504308 RCV004004835

NM_000368.5(TSC1):c.856C>G (p.Pro286Ala)

SNV
Germline

Chr9:132912339

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA200894798

rs_1047485135

3 SubmittersRCV001231380 RCV002447156

NM_000368.5(TSC1):c.663G>A (p.Lys221=)

SNV
Germline

Chr9:132921819

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA467593761

rs_868715706

4 SubmittersRCV001231969 RCV001760236 RCV003353233

NM_000368.5(TSC1):c.363G>C (p.Lys121Asn)

SNV
Germline

Chr9:132925587

Pathogenic/Likely pathogenic

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA375374287

rs_118203370

3 SubmittersRCV001231647 RCV004679020 RCV005411686

NM_000368.5(TSC1):c.218T>A (p.Leu73Ter)

SNV
Germline

Chr9:132925732

Pathogenic

Tuberous sclerosis 1

Criteria Provided
Single Submitter

CA375374863

rs_1846822085

1 SubmittersRCV001230095

NM_000548.5(TSC2):c.391C>G (p.Pro131Ala)

SNV
Germline

Chr16:2054350

Conflicting classifications of pathogenicity

Isolated focal cortical dysplasia type II
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA049630

rs_777398393

3 SubmittersRCV003462800 RCV004033299 RCV001236083

NM_000548.5(TSC2):c.670G>T (p.Ala224Ser)

SNV
Germline

Chr16:2056665

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
not specified
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394312453

rs_772558666

4 SubmittersRCV001226297 RCV002366017 RCV004526092 RCV006546003

NM_000548.5(TSC2):c.1113G>C (p.Gln371His)

SNV
Germline

Chr16:2060807

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA028182

rs_571767462

4 SubmittersRCV001234320 RCV002436917 RCV002504320

NM_000548.5(TSC2):c.2927G>C (p.Arg976Pro)

SNV
Germline

Chr16:2077687

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA042829

rs_779832805

6 SubmittersRCV001773522 RCV002436898 RCV002484259 RCV004004836 RCV001230672

NM_000548.5(TSC2):c.3125C>T (p.Pro1042Leu)

SNV
Germline

Chr16:2079190

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA044288

rs_745731000

5 SubmittersRCV001236118 RCV002322130 RCV002260690 RCV004004866

NM_000548.5(TSC2):c.3291C>G (p.Ser1097Arg)

SNV
Germline

Chr16:2079563

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Lymphangiomyomatosis

Criteria Provided
Conflicting Classifications

CA394286453

rs_1173297358

4 SubmittersRCV001231681 RCV002447159 RCV005014278

NM_000548.5(TSC2):c.3328G>C (p.Ala1110Pro)

SNV
Germline

Chr16:2079600

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394286599

rs_1260370117

5 SubmittersRCV001232487 RCV002322119 RCV003238851 RCV004004844

NM_000548.5(TSC2):c.3734G>A (p.Arg1245Gln)

SNV
Germline

Chr16:2081718

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
not specified
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA048210

rs_746588726

4 SubmittersRCV001227098 RCV003117855 RCV002348765 RCV004004816

NM_000548.5(TSC2):c.3917G>A (p.Gly1306Asp)

SNV
Germline

Chr16:2083728

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394297109

rs_1567518028

3 SubmittersRCV001225628 RCV002375219 RCV006546001

NM_000548.5(TSC2):c.4399G>T (p.Ala1467Ser)

SNV
Germline

Chr16:2084621

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA051039

rs_774980656

2 SubmittersRCV001230019 RCV002327547

NM_000548.5(TSC2):c.4660C>T (p.Gln1554Ter)

SNV
Germline

Chr16:2085320

Pathogenic

Condition: not provided
Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA394305099

rs_2090634528

3 SubmittersRCV003317462 RCV001235987 RCV006437026

NM_000368.5(TSC1):c.2434A>G (p.Ile812Val)

SNV
Germline

Chr9:132901657

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA032712

rs_751128287

4 SubmittersRCV001247178 RCV001773564 RCV004004908

NM_000368.5(TSC1):c.1004C>T (p.Thr335Ile)

SNV
Germline

Chr9:132911478

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA375368520

rs_1845955010

6 SubmittersRCV001245202 RCV003469470 RCV004004902 RCV004679040

NM_000548.5(TSC2):c.202G>A (p.Ala68Thr)

SNV
Germline

Chr16:2050463

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Tuberous sclerosis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA035859

rs_767626323

5 SubmittersRCV001241744 RCV002418832 RCV004004889 RCV005014296 RCV004794515

NM_000548.5(TSC2):c.229G>T (p.Ala77Ser)

SNV
Germline

Chr16:2053345

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA394305401

rs_777459404

5 SubmittersRCV001243533 RCV002256719 RCV002484348

NM_000548.5(TSC2):c.2870T>G (p.Leu957Trp)

SNV
Germline

Chr16:2077630

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA042506

rs_200030367

3 SubmittersRCV001241434 RCV006287375

NM_000548.5(TSC2):c.3131+4C>G

SNV
Germline

Chr16:2079200

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Lymphangiomyomatosis

Criteria Provided
Conflicting Classifications

CA620704908

rs_559015964

3 SubmittersRCV001227930 RCV004032621 RCV005014268

NM_000548.5(TSC2):c.4990-5G>C

SNV
Germline

Chr16:2087858

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA053413

rs_753000765

3 SubmittersRCV001248039 RCV004034916

NM_000548.5(TSC2):c.4628A>G (p.His1543Arg)

SNV
Germline

Chr16:2085288

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA394304851

rs_2090628516

6 SubmittersRCV001249600 RCV004035292 RCV004590283

NM_000368.5(TSC1):c.278T>A (p.Leu93Gln)

SNV
Germline

Chr9:132925672

Likely pathogenic

Tuberous sclerosis 1

Criteria Provided
Single Submitter

CA375374611

rs_118203363

1 SubmittersRCV001281332

NM_000548.5(TSC2):c.1177G>T (p.Glu393Ter)

SNV
Germline

Chr16:2061928

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA394320449

rs_2086689358

2 SubmittersRCV001250760

NM_000548.5(TSC2):c.2098-2A>T

SNV
Germline

Chr16:2072239

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394274743

rs_45501596

1 SubmittersRCV001250757

NM_000548.5(TSC2):c.4006-2A>T

SNV
Germline

Chr16:2084226

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394299105

rs_397514941

1 SubmittersRCV001250761

NM_000368.5(TSC1):c.-144+134G>T

SNV
Germline

Chr9:132944409

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA200910372

rs_375418118

2 SubmittersRCV001254672 RCV003433096

NM_000548.5(TSC2):c.3815-1G>A

SNV
Germline

Chr16:2082435

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394294738

rs_2090256621

7 SubmittersRCV001258192 RCV001587298 RCV002357062 RCV004803604

NM_000548.5(TSC2):c.775-1G>C

SNV
Unknown

Chr16:2057104

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394312931

rs_45454192

1 SubmittersRCV001262864

NM_000548.5(TSC2):c.4039C>G (p.Leu1347Val)

SNV
Germline

Chr16:2084261

Conflicting classifications of pathogenicity

Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA050266

rs_377050648

3 SubmittersRCV001281690

NM_000548.5(TSC2):c.2837+10G>T

SNV
Germline

Chr16:2076595

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA718907520

rs_1232454175

4 SubmittersRCV001288896 RCV001433588

NM_000368.5(TSC1):c.3415C>T (p.His1139Tyr)

SNV
Germline

Chr9:132896315

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA375366418

rs_1845031012

3 SubmittersRCV001307289 RCV002456393 RCV003462877

NM_000368.5(TSC1):c.1765C>T (p.Pro589Ser)

SNV
Germline

Chr9:132905813

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA375363689

rs_1299279813

2 SubmittersRCV001300322 RCV004679052

NM_000368.5(TSC1):c.1015A>T (p.Thr339Ser)

SNV
Germline

Chr9:132911467

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA026715

rs_570809282

2 SubmittersRCV001296630 RCV006548058

NM_000368.5(TSC1):c.720T>G (p.His240Gln)

SNV
Germline

Chr9:132921380

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA038590

rs_779872953

5 SubmittersRCV001301461 RCV002258188 RCV004005001

NM_000368.5(TSC1):c.482T>C (p.Leu161Pro)

SNV
Germline

Chr9:132923374

Pathogenic

Tuberous sclerosis 1

Criteria Provided
Single Submitter

CA375373213

rs_1846672141

1 SubmittersRCV001294832

NM_000548.5(TSC2):c.183A>G (p.Ile61Met)

SNV
Germline

Chr16:2050444

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Autism spectrum disorder
Isolated focal cortical dysplasia type II
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394303367

rs_2084961841

4 SubmittersRCV001304127 RCV003127778 RCV003462870 RCV005512990

NM_000548.5(TSC2):c.679T>G (p.Cys227Gly)

SNV
Germline

Chr16:2056674

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA056139

rs_753197543

2 SubmittersRCV001299291 RCV004036132

NM_000548.5(TSC2):c.979A>G (p.Met327Val)

SNV
Germline

Chr16:2060673

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA056860

rs_754596133

2 SubmittersRCV001304690 RCV004951485

NM_000548.5(TSC2):c.1131C>G (p.Ser377Arg)

SNV
Germline

Chr16:2061882

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394319880

rs_201525586

3 SubmittersRCV001298879 RCV002260699 RCV002322195

NM_000548.5(TSC2):c.1423A>G (p.Ile475Val)

SNV
Germline

Chr16:2063033

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA394324005

rs_1196710568

4 SubmittersRCV001307205 RCV002393727 RCV002509654 RCV004570720

NM_000548.5(TSC2):c.1569C>G (p.His523Gln)

SNV
Germline

Chr16:2064397

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA394326617

rs_1420211177

3 SubmittersRCV001302576 RCV002402843 RCV005256764

NM_000548.5(TSC2):c.1624C>T (p.Pro542Ser)

SNV
Germline

Chr16:2065543

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA276731038

rs_891347695

5 SubmittersRCV001296720 RCV003365300 RCV004004968 RCV006258508

NM_000548.5(TSC2):c.2186G>A (p.Ser729Asn)

SNV
Germline

Chr16:2072329

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA394274986

rs_2088581254

2 SubmittersRCV001304344 RCV004727111

NM_000548.5(TSC2):c.2398T>C (p.Cys800Arg)

SNV
Germline

Chr16:2074242

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA038885

rs_776930735

2 SubmittersRCV002447314 RCV001307717

NM_000548.5(TSC2):c.2941A>G (p.Ser981Gly)

SNV
Germline

Chr16:2077701

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Lymphangiomyomatosis
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394281450

rs_2089595149

4 SubmittersRCV001295665 RCV002486118 RCV004036011 RCV006548052

NM_000548.5(TSC2):c.4361G>T (p.Ser1454Ile)

SNV
Germline

Chr16:2084583

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA050988

rs_758233186

3 SubmittersRCV001294962 RCV002327632 RCV004004957

NM_000548.5(TSC2):c.5011G>A (p.Val1671Met)

SNV
Germline

Chr16:2087884

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA053487

rs_775395648

3 SubmittersRCV001298231 RCV002350533

NM_000548.5(TSC2):c.5144T>C (p.Met1715Thr)

SNV
Germline

Chr16:2088123

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA054058

rs_758246234

4 SubmittersRCV001296392 RCV001751562 RCV003294205

NM_000548.5(TSC2):c.5357C>T (p.Pro1786Leu)

SNV
Germline

Chr16:2088543

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA394315777

rs_770117004

4 SubmittersRCV001307897 RCV002255643 RCV004570726

NM_000368.5(TSC1):c.363+667A>T

SNV
Germline

Chr9:132924920

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 1

Criteria Provided
Conflicting Classifications

CA1882423264

rs_1846769659

2 SubmittersRCV001311802 RCV005866935

NM_000368.5(TSC1):c.3377G>T (p.Gly1126Val)

SNV
Germline

Chr9:132896353

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA375366496

rs_1446630759

2 SubmittersRCV001324337 RCV005503084

NM_000368.5(TSC1):c.2984G>A (p.Cys995Tyr)

SNV
Germline

Chr9:132896746

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA035458

rs_144314195

5 SubmittersRCV001324840 RCV002438743 RCV003473861 RCV003151853 RCV006548135

NM_000368.5(TSC1):c.1193C>T (p.Ala398Val)

SNV
Germline

Chr9:132910641

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA200893852

rs_918660416

4 SubmittersRCV001324093 RCV003166896 RCV004005121

NM_000368.5(TSC1):c.1067C>A (p.Thr356Asn)

SNV
Germline

Chr9:132911076

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Tuberous sclerosis 1

Criteria Provided
Conflicting Classifications

CA375367707

rs_1845931432

3 SubmittersRCV001324235 RCV003166898 RCV005040184

NM_000368.5(TSC1):c.859C>T (p.His287Tyr)

SNV
Germline

Chr9:132912336

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA375369209

rs_1278022127

2 SubmittersRCV001320665 RCV005298780

NM_000368.5(TSC1):c.771C>A (p.Ile257=)

SNV
Germline

Chr9:132912424

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA467593604

rs_1060504854

3 SubmittersRCV001317623 RCV002402885 RCV004005090

NM_000368.5(TSC1):c.622A>C (p.Ser208Arg)

SNV
Germline

Chr9:132921860

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA038264

rs_778671811

2 SubmittersRCV001318506 RCV002366176

NM_000368.5(TSC1):c.542A>T (p.His181Leu)

SNV
Germline

Chr9:132921940

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA038056

rs_397515294

4 SubmittersRCV001326739 RCV003232305 RCV003169535 RCV006548140

NM_000548.5(TSC2):c.1254G>T (p.Arg418Ser)

SNV
Germline

Chr16:2062005

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA028853

rs_767670580

3 SubmittersRCV001318263 RCV004005092 RCV004034932

NM_000548.5(TSC2):c.1361+6G>A

SNV
Germline

Chr16:2062606

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA2201988472

rs_1596305980

2 SubmittersRCV001323002 RCV002258201

NM_000548.5(TSC2):c.1443+4C>G

SNV
Germline

Chr16:2063057

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
TSC2-related disorder

Criteria Provided
Conflicting Classifications

CA620373545

rs_45517172

4 SubmittersRCV001320818 RCV003294285 RCV004005105 RCV004545201

NM_000548.5(TSC2):c.1454T>A (p.Ile485Asn)

SNV
Germline

Chr16:2064282

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA030607

rs_774265657

2 SubmittersRCV001322134 RCV004951536

NM_000548.5(TSC2):c.1999A>G (p.Thr667Ala)

SNV
Germline

Chr16:2071836

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA035463

rs_757722513

2 SubmittersRCV001325771 RCV002418977

NM_000548.5(TSC2):c.2248C>T (p.Leu750Phe)

SNV
Germline

Chr16:2072876

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA037765

rs_754885213

3 SubmittersRCV001322634 RCV003355391 RCV004570779

NM_000548.5(TSC2):c.2492C>T (p.Thr831Met)

SNV
Germline

Chr16:2074336

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA039254

rs_774380711

2 SubmittersRCV001313937 RCV002431887

NM_000548.5(TSC2):c.2684T>C (p.Met895Thr)

SNV
Germline

Chr16:2076112

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394279351

rs_1284083563

2 SubmittersRCV001315084 RCV004951507

NM_000548.5(TSC2):c.2702G>T (p.Arg901Leu)

SNV
Germline

Chr16:2076130

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394279443

rs_1273957629

2 SubmittersRCV001315705 RCV006287393

NM_000548.5(TSC2):c.3191A>G (p.Asn1064Ser)

SNV
Germline

Chr16:2079335

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA044681

rs_758690821

3 SubmittersRCV001316948 RCV003166820 RCV002499614

NM_000548.5(TSC2):c.3790C>T (p.Pro1264Ser)

SNV
Germline

Chr16:2081774

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394293506

rs_2090171531

2 SubmittersRCV001318284 RCV004679071

NM_000548.5(TSC2):c.3983G>A (p.Arg1328Lys)

SNV
Germline

Chr16:2083794

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA276752889

rs_112885324

2 SubmittersRCV001327756 RCV002357166

NM_000548.5(TSC2):c.4549C>G (p.Pro1517Ala)

SNV
Germline

Chr16:2085006

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA394302993

rs_1057522800

4 SubmittersRCV001321059 RCV002341657 RCV001760405

NM_000548.5(TSC2):c.5245C>T (p.Arg1749Trp)

SNV
Germline

Chr16:2088311

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394314699

rs_1193817827

5 SubmittersRCV001312246 RCV002341624 RCV003332319 RCV004005059

NM_000368.5(TSC1):c.1324A>T (p.Arg442Ter)

SNV
Germline

Chr9:132907310

Likely pathogenic

Tuberous sclerosis 1

No Assertion Criteria Provided

CA375366093

rs_1845724649

1 SubmittersRCV001328534

NM_000548.5(TSC2):c.600-2A>T

SNV
Germline

Chr16:2056194

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394310569

rs_45468592

1 SubmittersRCV001329371

NM_000548.5(TSC2):c.1258-2A>G

SNV
Germline

Chr16:2062495

Pathogenic

Tuberous sclerosis 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA394321727

rs_45517160

3 SubmittersRCV001329367 RCV005232272

NM_000368.5(TSC1):c.364A>G (p.Met122Val)

SNV
Germline

Chr9:132923492

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA375373778

rs_1846685026

4 SubmittersRCV001350514 RCV002456524 RCV004005232 RCV005054364

NM_000548.5(TSC2):c.122C>T (p.Thr41Ile)

SNV
Germline

Chr16:2048737

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394301702

rs_1385450866

4 SubmittersRCV001347824 RCV002368143 RCV004998845 RCV006548183

NM_000548.5(TSC2):c.502A>G (p.Met168Val)

SNV
Germline

Chr16:2055422

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA053552

rs_779566253

5 SubmittersRCV001352453 RCV002258218 RCV004005247

NM_000548.5(TSC2):c.1732C>G (p.Leu578Val)

SNV
Germline

Chr16:2070471

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394272703

rs_1204972424

2 SubmittersRCV001339222 RCV004679088

NM_000548.5(TSC2):c.2161G>A (p.Val721Met)

SNV
Germline

Chr16:2072304

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA036930

rs_768261185

4 SubmittersRCV001345735 RCV003169676 RCV004005201 RCV005255679

NM_000548.5(TSC2):c.2458A>C (p.Ile820Leu)

SNV
Germline

Chr16:2074302

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA039097

rs_754451657

2 SubmittersRCV001343167 RCV002447407

NM_000548.5(TSC2):c.2927G>A (p.Arg976Gln)

SNV
Germline

Chr16:2077687

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Lymphangiomyomatosis
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA042821

rs_779832805

5 SubmittersRCV001339381 RCV002438771 RCV004005159 RCV005014449

NM_000548.5(TSC2):c.3179G>C (p.Trp1060Ser)

SNV
Germline

Chr16:2079323

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394285526

rs_2089827541

1 SubmittersRCV001346894

NM_000548.5(TSC2):c.3497C>T (p.Pro1166Leu)

SNV
Germline

Chr16:2080264

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA047205

rs_762650392

3 SubmittersRCV001346347 RCV002456502 RCV004005203

NM_000548.5(TSC2):c.4138C>A (p.Gln1380Lys)

SNV
Germline

Chr16:2084360

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA394299622

rs_137854045

3 SubmittersRCV001342767 RCV001773684

NM_000548.5(TSC2):c.4416C>T (p.Gly1472=)

SNV
Germline

Chr16:2084638

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided
Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis

Criteria Provided
Conflicting Classifications

CA493043331

rs_2090534289

6 SubmittersRCV001339001 RCV001751662 RCV004005155 RCV004951560 RCV005005836

NM_000548.5(TSC2):c.4613C>T (p.Pro1538Leu)

SNV
Germline

Chr16:2085273

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA051949

rs_753060862

4 SubmittersRCV001341252 RCV002329317 RCV004005172 RCV005243516

NM_000548.5(TSC2):c.4930G>T (p.Asp1644Tyr)

SNV
Germline

Chr16:2086812

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394308649

rs_137853999

1 SubmittersRCV001350488

NM_000368.5(TSC1):c.3460A>G (p.Met1154Val)

SNV
Germline

Chr9:132896270

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Tuberous sclerosis 1
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA375366330

rs_1845024278

4 SubmittersRCV001359955 RCV002486503 RCV004951599 RCV005428183

NM_000368.5(TSC1):c.2527C>G (p.Gln843Glu)

SNV
Germline

Chr9:132900813

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA033399

rs_749414404

3 SubmittersRCV001369075 RCV002493882 RCV004570907

NM_000368.5(TSC1):c.2040A>C (p.Gly680=)

SNV
Germline

Chr9:132904412

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA467590782

rs_2131786060

3 SubmittersRCV001372451 RCV005437109 RCV005286452

NM_000368.5(TSC1):c.2003C>T (p.Pro668Leu)

SNV
Germline

Chr9:132904449

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Tuberous sclerosis 1

Criteria Provided
Conflicting Classifications

CA030574

rs_772603060

3 SubmittersRCV001371538 RCV002420835 RCV005040228

NM_000368.5(TSC1):c.1768C>T (p.Pro590Ser)

SNV
Germline

Chr9:132905810

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA200888421

rs_902419565

3 SubmittersRCV001370337 RCV005251280 RCV004951633

NM_000368.5(TSC1):c.289A>T (p.Ile97Leu)

SNV
Germline

Chr9:132925661

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA034975

rs_138541569

3 SubmittersRCV001369947 RCV002438865 RCV004006819

NM_000368.5(TSC1):c.58G>A (p.Gly20Ser)

SNV
Germline

Chr9:132928815

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA375375356

rs_2132295199

2 SubmittersRCV001368315 RCV002357251

NM_000548.5(TSC2):c.39G>T (p.Glu13Asp)

SNV
Germline

Chr16:2048654

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA049909

rs_766814650

3 SubmittersRCV001369543 RCV002357257 RCV004570909

NM_000548.5(TSC2):c.107C>T (p.Thr36Met)

SNV
Germline

Chr16:2048722

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA276768616

rs_376280172

4 SubmittersRCV001371341 RCV004006829 RCV004037500 RCV004728686

NM_000548.5(TSC2):c.113T>A (p.Phe38Tyr)

SNV
Germline

Chr16:2048728

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA028582

rs_745604417

2 SubmittersRCV001367176 RCV004951623

NM_000548.5(TSC2):c.590G>A (p.Arg197Lys)

SNV
Germline

Chr16:2055510

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA055459

rs_754505860

3 SubmittersRCV001372608 RCV004681153 RCV006548233

NM_000548.5(TSC2):c.817A>G (p.Ile273Val)

SNV
Germline

Chr16:2057147

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394313212

rs_1357428836

2 SubmittersRCV001372080 RCV004037520

NM_000548.5(TSC2):c.1605G>A (p.Met535Ile)

SNV
Germline

Chr16:2065524

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394267557

rs_2151206304

2 SubmittersRCV001367389 RCV004681146

NM_000548.5(TSC2):c.2334C>G (p.Asn778Lys)

SNV
Germline

Chr16:2072962

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394276671

rs_1320712673

2 SubmittersRCV001370322 RCV005762294

NM_000548.5(TSC2):c.2446C>T (p.Pro816Ser)

SNV
Germline

Chr16:2074290

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA039069

rs_760265207

2 SubmittersRCV001373890 RCV006287431

NM_000548.5(TSC2):c.2639+6T>C

SNV
Germline

Chr16:2075898

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2499223303

rs_2151382514

3 SubmittersRCV001369542 RCV001550897

NM_000548.5(TSC2):c.2734A>G (p.Ile912Val)

SNV
Germline

Chr16:2076162

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA041070

rs_748461293

2 SubmittersRCV001366524 RCV002438852

NM_000548.5(TSC2):c.3050A>G (p.Asn1017Ser)

SNV
Germline

Chr16:2079115

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394284267

rs_2151432652

2 SubmittersRCV001359364 RCV002447452

NM_000548.5(TSC2):c.3253T>C (p.Ser1085Pro)

SNV
Germline

Chr16:2079397

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA044988

rs_767655384

4 SubmittersRCV001368227 RCV002322347 RCV002499753

NM_000548.5(TSC2):c.3285-3C>T

SNV
Germline

Chr16:2079554

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA2202030374

rs_781023043

2 SubmittersRCV001374091 RCV002447497

NM_000548.5(TSC2):c.3460A>G (p.Thr1154Ala)

SNV
Germline

Chr16:2080227

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394288834

rs_1266509754

3 SubmittersRCV001360289 RCV002456546 RCV004005269

NM_000548.5(TSC2):c.3461C>T (p.Thr1154Ile)

SNV
Germline

Chr16:2080228

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA046936

rs_377137483

2 SubmittersRCV001359466 RCV002456543

NM_000548.5(TSC2):c.3856C>T (p.Gln1286Ter)

SNV
Germline

Chr16:2082477

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA394295039

rs_2151493215

3 SubmittersRCV001372348 RCV003284286 RCV004998857

NM_000548.5(TSC2):c.4873A>T (p.Met1625Leu)

SNV
Germline

Chr16:2086755

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA053013

rs_774386413

2 SubmittersRCV001370771 RCV004681149

NM_000368.5(TSC1):c.1997+2T>G

SNV
Germline

Chr9:132905579

Pathogenic/Likely pathogenic

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA375362199

rs_2131806725

2 SubmittersRCV001377906 RCV002420854

NM_000368.5(TSC1):c.509-1G>C

SNV
Germline

Chr9:132921974

Likely pathogenic

Tuberous sclerosis 1

Criteria Provided
Single Submitter

CA375372964

rs_1554819620

1 SubmittersRCV001378275

NM_000548.5(TSC2):c.551T>A (p.Val184Asp)

SNV
Germline

Chr16:2055471

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394309504

rs_2085667006

1 SubmittersRCV001379717

NM_000548.5(TSC2):c.2837+1G>A

SNV
Germline

Chr16:2076586

Pathogenic/Likely pathogenic

Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA394280276

rs_45517271

3 SubmittersRCV001379012 RCV005628909 RCV005513040

NM_000548.5(TSC2):c.3398-2A>G

SNV
Germline

Chr16:2080163

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394288306

rs_2151455445

2 SubmittersRCV001377743 RCV002456594

NM_000548.5(TSC2):c.3611-1G>C

SNV
Germline

Chr16:2081594

Likely pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394291349

rs_45517302

1 SubmittersRCV001379516

NM_000368.5(TSC1):c.2599C>T (p.Gln867Ter)

SNV
Germline

Chr9:132900741

Pathogenic

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA375369931

rs_2131685383

2 SubmittersRCV001385425 RCV002432071

NM_000368.5(TSC1):c.1450A>T (p.Arg484Ter)

SNV
Germline

Chr9:132906128

Pathogenic

Tuberous sclerosis 1

Criteria Provided
Single Submitter

CA375365587

rs_2131850310

1 SubmittersRCV001390309

NM_000368.5(TSC1):c.1027C>T (p.Gln343Ter)

SNV
Germline/somatic

Chr9:132911455

Pathogenic

Tuberous sclerosis 1
Malignant tumor of urinary bladder
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA375368399

rs_2131972870

4 SubmittersRCV001390138 RCV003332343 RCV005416539

NM_000368.5(TSC1):c.913+1G>T

SNV
Germline

Chr9:132912281

Pathogenic

Tuberous sclerosis 1

Criteria Provided
Single Submitter

CA375368964

rs_118203470

1 SubmittersRCV001383671

NM_000548.5(TSC2):c.138+5G>C

SNV
Germline

Chr16:2048758

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA2499223267

rs_45481400

1 SubmittersRCV001381931

NM_000548.5(TSC2):c.975+2T>C

SNV
Germline

Chr16:2058875

Pathogenic

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA394315918

rs_2151110209

2 SubmittersRCV001387617 RCV002384548

NM_000548.5(TSC2):c.1074G>A (p.Trp358Ter)

SNV
Germline

Chr16:2060768

Pathogenic

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA394317993

rs_1229561585

3 SubmittersRCV001387519 RCV002420865

NM_000548.5(TSC2):c.1948G>T (p.Glu650Ter)

SNV
Germline

Chr16:2071785

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394273555

rs_2151303613

1 SubmittersRCV001390163

NM_000548.5(TSC2):c.2285T>A (p.Leu762Ter)

SNV
Germline

Chr16:2072913

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394276579

rs_2151327516

1 SubmittersRCV001385625

NM_000548.5(TSC2):c.3316A>T (p.Lys1106Ter)

SNV
Germline

Chr16:2079588

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394286576

rs_2151445155

1 SubmittersRCV001385714

NM_000548.5(TSC2):c.3397+1G>T

SNV
Germline

Chr16:2079670

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394286847

rs_137854208

1 SubmittersRCV001380505

NM_000548.5(TSC2):c.3582G>A (p.Trp1194Ter)

SNV
Germline

Chr16:2080349

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394289644

rs_2151462008

1 SubmittersRCV001385431

NM_000548.5(TSC2):c.3610+1G>T

SNV
Germline

Chr16:2080378

Pathogenic/Likely pathogenic

Tuberous sclerosis 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA394289763

rs_45517299

3 SubmittersRCV001385218 RCV001508403

NM_000548.5(TSC2):c.4827C>A (p.Cys1609Ter)

SNV
Germline

Chr16:2086357

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394308109

rs_1179490369

1 SubmittersRCV001381572

NM_000548.5(TSC2):c.4950C>G (p.Tyr1650Ter)

SNV
Germline

Chr16:2086832

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394308833

rs_1283177454

1 SubmittersRCV001390704

NM_000548.5(TSC2):c.481+1G>A

SNV
Germline

Chr16:2054441

Pathogenic/Likely pathogenic

Cortical tubers
Focal cortical dysplasia
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA394308611

rs_45488500

4 SubmittersRCV001391263 RCV001871999

NM_000368.5(TSC1):c.2042-5A>T

SNV
Germline

Chr9:132903822

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA860671948

rs_118203627

4 SubmittersRCV001419950 RCV002255662

NM_000368.5(TSC1):c.1998-7T>G

SNV
Germline

Chr9:132904461

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA1882412365

rs_1845549017

2 SubmittersRCV001395734 RCV004006868

NM_000368.5(TSC1):c.914-4T>G

SNV
Germline

Chr9:132911572

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA2499219725

rs_2131982922

2 SubmittersRCV001403846 RCV002377615

NM_000368.5(TSC1):c.509-5T>C

SNV
Germline

Chr9:132921978

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA2499219732

rs_1846593189

2 SubmittersRCV001413695 RCV006287440

NM_000548.5(TSC2):c.717C>T (p.Phe239=)

SNV
Germline

Chr16:2056712

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA492957249

rs_1567408727

4 SubmittersRCV001396938 RCV003169968 RCV004998872

NM_000548.5(TSC2):c.918C>T (p.Ala306=)

SNV
Germline

Chr16:2058816

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA492959716

rs_2151107825

3 SubmittersRCV001414249 RCV004951704

NM_000548.5(TSC2):c.999G>A (p.Val333=)

SNV
Germline

Chr16:2060693

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA492960612

rs_746177025

3 SubmittersRCV001402541 RCV005298831

NM_000548.5(TSC2):c.1284C>T (p.Ser428=)

SNV
Germline

Chr16:2062523

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA492962397

rs_1325874616

3 SubmittersRCV001395752 RCV002384564

NM_000548.5(TSC2):c.3003G>T (p.Gly1001=)

SNV
Germline

Chr16:2079068

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA043807

rs_768864105

2 SubmittersRCV001405382 RCV002438935

NM_000548.5(TSC2):c.4014A>G (p.Ser1338=)

SNV
Germline

Chr16:2084236

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA493043006

rs_1481292684

2 SubmittersRCV001411527 RCV006548284

NM_000548.5(TSC2):c.4701C>T (p.Gly1567=)

SNV
Germline

Chr16:2086231

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA493043518

rs_763804965

5 SubmittersRCV001392039 RCV004803682 RCV004951666

NM_000548.5(TSC2):c.4824C>T (p.Tyr1608=)

SNV
Germline

Chr16:2086354

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA493043589

rs_1422829075

4 SubmittersRCV001416351 RCV002555099 RCV003298694

NM_000368.5(TSC1):c.2103G>A (p.Gln701=)

SNV
Germline

Chr9:132903756

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA467590725

rs_118203639

6 SubmittersRCV001422371 RCV001773749 RCV002258241

NM_000368.5(TSC1):c.1002G>C (p.Ser334=)

SNV
Germline

Chr9:132911480

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA026675

rs_200820603

2 SubmittersRCV001447517 RCV003355482

NM_000368.5(TSC1):c.663+8G>A

SNV
Germline

Chr9:132921811

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
not specified

Criteria Provided
Conflicting Classifications

CA591050536

rs_1288691986

3 SubmittersRCV001448391 RCV005408908

NM_000368.5(TSC1):c.603C>A (p.Ser201=)

SNV
Germline

Chr9:132921879

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA038214

rs_777571943

3 SubmittersRCV001426665 RCV006258588 RCV006548311

NM_000548.5(TSC2):c.1014C>T (p.Ile338=)

SNV
Germline

Chr16:2060708

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA492960690

rs_1250621196

5 SubmittersRCV001436285 RCV002258254 RCV006548332

NM_000548.5(TSC2):c.1417C>T (p.Leu473=)

SNV
Germline

Chr16:2063027

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA492962570

rs_1321215329

2 SubmittersRCV001426617 RCV005298839

NM_000548.5(TSC2):c.4005+10G>T

SNV
Germline

Chr16:2083826

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
TSC2-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2202042665

rs_2090437677

4 SubmittersRCV001442160 RCV004540337 RCV006258598

NM_000368.5(TSC1):c.2821C>T (p.Leu941=)

SNV
Germline

Chr9:132897338

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA467812707

rs_2131628647

2 SubmittersRCV001463257 RCV004951794

NM_000368.5(TSC1):c.1998-5C>T

SNV
Germline

Chr9:132904459

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1882412363

rs_1845548849

3 SubmittersRCV001450570 RCV002421016

NM_000368.5(TSC1):c.1030-5C>T

SNV
Germline

Chr9:132911118

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA2499219722

rs_1588323218

4 SubmittersRCV001472955 RCV003331163 RCV002384765

NM_000368.5(TSC1):c.364-5T>C

SNV
Germline

Chr9:132923497

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA200901626

rs_111865190

3 SubmittersRCV001456889 RCV004038558

NM_000368.5(TSC1):c.177C>T (p.His59=)

SNV
Germline

Chr9:132927234

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA200902339

rs_767647768

5 SubmittersRCV001453753 RCV002414086 RCV004804181 RCV006258608

NM_000548.5(TSC2):c.1269C>T (p.Leu423=)

SNV
Germline

Chr16:2062508

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA492962357

rs_1323588796

3 SubmittersRCV001474310 RCV004951816

NM_000548.5(TSC2):c.3815-8C>T

SNV
Germline

Chr16:2082428

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA2499223330

rs_1596404187

3 SubmittersRCV001463839 RCV002258274

NM_000548.5(TSC2):c.3903G>A (p.Glu1301=)

SNV
Germline

Chr16:2083714

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA492956150

rs_1429956058

4 SubmittersRCV001459055 RCV003298792 RCV004728730

NM_000548.5(TSC2):c.4006-7T>G

SNV
Germline

Chr16:2084221

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2499223333

rs_2151520224

3 SubmittersRCV001465963 RCV001773751

NM_000548.5(TSC2):c.4704C>T (p.Ser1568=)

SNV
Germline

Chr16:2086234

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA276756154

rs_916198158

4 SubmittersRCV001455561 RCV004007059 RCV004681190

NM_000368.5(TSC1):c.2463G>A (p.Val821=)

SNV
Germline

Chr9:132901628

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA467590450

rs_764014190

2 SubmittersRCV001498549 RCV004946688

NM_000368.5(TSC1):c.1410A>G (p.Glu470=)

SNV
Germline

Chr9:132906759

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA467591647

rs_2131863384

2 SubmittersRCV001495450 RCV003159210

NM_000368.5(TSC1):c.1350C>T (p.Ser450=)

SNV
Germline

Chr9:132906819

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Condition: not provided
Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA028440

rs_773780814

5 SubmittersRCV001499050 RCV002276521 RCV004007203 RCV004946689

NM_000368.5(TSC1):c.1095C>T (p.Val365=)

SNV
Germline

Chr9:132911048

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA467593336

rs_2131960043

2 SubmittersRCV001483346 RCV004770161

NM_000368.5(TSC1):c.509-4C>G

SNV
Germline

Chr9:132921977

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA645557271

rs_2132162807

2 SubmittersRCV001506489 RCV002334564

NM_000548.5(TSC2):c.775-7C>G

SNV
Germline

Chr16:2057098

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Renal cyst

Criteria Provided
Conflicting Classifications

CA276774933

rs_368164133

2 SubmittersRCV001502385 RCV005626433

NM_000548.5(TSC2):c.1755T>C (p.Arg585=)

SNV
Germline

Chr16:2070494

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA033378

rs_755484371

4 SubmittersRCV001480088 RCV002259132

NM_000548.5(TSC2):c.1851C>T (p.Phe617=)

SNV
Germline

Chr16:2071521

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA492950258

rs_1446662814

4 SubmittersRCV001495337 RCV002414198 RCV006258635

NM_000548.5(TSC2):c.2221-8G>A

SNV
Germline

Chr16:2072841

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2499223298

rs_768919244

2 SubmittersRCV001495484 RCV003313226

NM_000548.5(TSC2):c.3058C>T (p.Leu1020=)

SNV
Germline

Chr16:2079123

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA044121

rs_574318440

5 SubmittersRCV001502030 RCV002255676 RCV004007213 RCV006258640

NM_000548.5(TSC2):c.4749G>A (p.Glu1583=)

SNV
Germline

Chr16:2086279

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA493043545

rs_1257270850

4 SubmittersRCV001492190 RCV002329598 RCV004007178

NM_000548.5(TSC2):c.5283C>T (p.Ser1761=)

SNV
Germline

Chr16:2088469

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA054945

rs_747002312

4 SubmittersRCV001482665 RCV004037230 RCV004774450

NM_000548.5(TSC2):c.5293C>T (p.Leu1765=)

SNV
Germline

Chr16:2088479

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA493043675

rs_1060500954

5 SubmittersRCV001478504 RCV002276520 RCV002350978 RCV004007140

NM_000368.5(TSC1):c.555C>A (p.Tyr185Ter)

SNV
Germline

Chr9:132921927

Pathogenic

Condition: not provided
Tuberous sclerosis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA375372746

rs_118203398

3 SubmittersRCV001508281 RCV002564237

NM_000548.5(TSC2):c.5260-13C>T

SNV
Germline

Chr16:2088433

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA718905476

rs_1413775764

4 SubmittersRCV001534422 RCV002071921 RCV002258301

NM_000368.5(TSC1):c.2503-11T>A

SNV
Germline

Chr9:132900848

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 1
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA032988

rs_201568350

3 SubmittersRCV001558308 RCV002072106 RCV004008932

NM_000368.5(TSC1):c.1897G>A (p.Gly633Arg)

SNV
Germline

Chr9:132905681

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA375362834

rs_1471587230

4 SubmittersRCV001653085 RCV001882751 RCV005286496 RCV004571067

NM_000548.5(TSC2):c.4494-2A>G

SNV
Germline

Chr16:2084949

Pathogenic

Condition: not provided
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA394302658

rs_397514990

2 SubmittersRCV001665507 RCV003626679

NM_000368.5(TSC1):c.2503-1G>C

SNV
Germline

Chr9:132900838

Pathogenic

Tuberous sclerosis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA375370376

rs_118203705

2 SubmittersRCV001706864

NM_000548.5(TSC2):c.5302G>A (p.Val1768Met)

SNV
Germline

Chr16:2088488

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394315354

rs_2151639120

3 SubmittersRCV001758132 RCV003626681 RCV005286498

NM_000368.5(TSC1):c.2503-11T>G

SNV
Germline

Chr9:132900848

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 1
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA033006

rs_201568350

3 SubmittersRCV001764936 RCV002074006 RCV004008995

NM_000548.5(TSC2):c.3454A>G (p.Ser1152Gly)

SNV
Germline

Chr16:2080221

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA276746678

rs_772215032

4 SubmittersRCV001768600 RCV002032826 RCV003163832 RCV004008997

NM_000548.5(TSC2):c.1871A>C (p.Asp624Ala)

SNV
Germline

Chr16:2071541

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394273085

rs_2151296839

3 SubmittersRCV001774042 RCV002300578 RCV003163848

NM_000368.5(TSC1):c.256C>T (p.Arg86Cys)

SNV
Germline

Chr9:132925694

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA375374694

rs_1463772907

4 SubmittersRCV001765794 RCV001882894 RCV002425049 RCV004009009

NM_000548.5(TSC2):c.4697A>G (p.His1566Arg)

SNV
Germline

Chr16:2086227

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA394307249

rs_1448001502

4 SubmittersRCV001756938 RCV001868458 RCV002329731 RCV005006022

NM_000548.5(TSC2):c.4253C>T (p.Ser1418Leu)

SNV
Germline

Chr16:2084475

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA050710

rs_369164761

4 SubmittersRCV001761049 RCV005095009 RCV006287480

NM_000548.5(TSC2):c.3611-11C>G

SNV
Germline

Chr16:2081584

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA047730

rs_375617364

3 SubmittersRCV001769117 RCV002544128 RCV004009022

NM_000548.5(TSC2):c.4570-13C>G

SNV
Germline

Chr16:2085217

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA051695

rs_370549253

5 SubmittersRCV001771350 RCV002074021 RCV002256831 RCV004009026

NM_000548.5(TSC2):c.4662+11G>A

SNV
Germline

Chr16:2085333

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA052039

rs_761569930

2 SubmittersRCV002074047 RCV003238694

NM_000548.5(TSC2):c.5090C>A (p.Thr1697Asn)

SNV
Germline

Chr16:2088069

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394312100

rs_777223264

4 SubmittersRCV001776648 RCV002334690 RCV002541066 RCV004804233

NM_000548.5(TSC2):c.1443+2T>A

SNV
Germline

Chr16:2063055

Pathogenic

Condition: not provided
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA394324194

rs_397515064

2 SubmittersRCV001810378 RCV003512137

NM_000548.5(TSC2):c.2680G>C (p.Ala894Pro)

SNV
Germline

Chr16:2076108

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394279332

rs_1379507306

3 SubmittersRCV001815785 RCV003772271 RCV002425084

NM_000548.5(TSC2):c.3040A>G (p.Ser1014Gly)

SNV
Germline

Chr16:2079105

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394284167

rs_1163007321

3 SubmittersRCV001815786 RCV003512138 RCV004946744

NM_000548.5(TSC2):c.3884-1G>T

SNV
Germline

Chr16:2083694

Likely pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394296628

rs_137854079

1 SubmittersRCV001823560

NM_000548.5(TSC2):c.987T>A (p.Cys329Ter)

SNV
Unknown

Chr16:2060681

Pathogenic

Tuberous sclerosis 2

No Assertion Criteria Provided

CA394317199

rs_2151134671

1 SubmittersRCV001824268

NM_000548.5(TSC2):c.5069-11A>G

SNV
Germline

Chr16:2088037

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA053750

rs_562381623

5 SubmittersRCV001843670 RCV002077327 RCV002255189 RCV006554630

NM_000368.5(TSC1):c.435G>T (p.Gln145His)

SNV
Germline

Chr9:132923421

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA375373442

rs_1195580419

2 SubmittersRCV002028784 RCV002331610

NM_000368.5(TSC1):c.1196C>T (p.Pro399Leu)

SNV
Germline

Chr9:132910638

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Lymphangiomyomatosis
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA027231

rs_761014195

2 SubmittersRCV001898467 RCV005050445

NM_000548.5(TSC2):c.5048T>G (p.Val1683Gly)

SNV
Germline

Chr16:2087921

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394311538

rs_2151613782

1 SubmittersRCV001962638

NM_000368.5(TSC1):c.973C>G (p.Gln325Glu)

SNV
Germline

Chr9:132911509

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA375368645

rs_118203474

2 SubmittersRCV001975352 RCV004946946

NM_000368.5(TSC1):c.2690A>T (p.Gln897Leu)

SNV
Germline

Chr9:132897546

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA034305

rs_772324460

2 SubmittersRCV001923273 RCV003167152

NM_000548.5(TSC2):c.2564A>C (p.His855Pro)

SNV
Germline

Chr16:2075817

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394278325

rs_1424946987

2 SubmittersRCV001959685 RCV005505344

NM_000368.5(TSC1):c.2521G>T (p.Val841Phe)

SNV
Germline

Chr9:132900819

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA375370287

rs_1343088775

2 SubmittersRCV001901293 RCV002458748

NM_000548.5(TSC2):c.2209C>G (p.Leu737Val)

SNV
Germline

Chr16:2072352

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394275119

rs_1485034650

2 SubmittersRCV002048137 RCV005764565

NM_000548.5(TSC2):c.5035G>C (p.Glu1679Gln)

SNV
Germline

Chr16:2087908

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394311355

rs_370404391

2 SubmittersRCV001948920 RCV002334938

NM_000548.5(TSC2):c.4058T>C (p.Val1353Ala)

SNV
Germline

Chr16:2084280

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394299355

rs_2151521778

2 SubmittersRCV001910262 RCV006287530

NM_000548.5(TSC2):c.1820C>G (p.Ala607Gly)

SNV
Germline

Chr16:2070559

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394272985

rs_397515296

3 SubmittersRCV001905856 RCV004998990 RCV004946827

NM_000548.5(TSC2):c.1119+6G>T

SNV
Germline

Chr16:2060819

Conflicting classifications of pathogenicity

Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA276776748

rs_397515305

2 SubmittersRCV002036730

NM_000368.5(TSC1):c.1966G>T (p.Gly656Ter)

SNV
Germline

Chr9:132905612

Pathogenic

Tuberous sclerosis 1

Criteria Provided
Single Submitter

CA375362351

rs_2131809131

1 SubmittersRCV001864151

NM_000548.5(TSC2):c.2058C>A (p.Tyr686Ter)

SNV
Germline

Chr16:2071895

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394274627

rs_1186913814

1 SubmittersRCV001978967

NM_000548.5(TSC2):c.4989+2T>A

SNV
Germline

Chr16:2086873

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394309263

rs_2090871271

1 SubmittersRCV002021985

NM_000548.5(TSC2):c.5194C>A (p.Pro1732Thr)

SNV
Germline

Chr16:2088260

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394314187

rs_759007975

2 SubmittersRCV001888782 RCV004946824

NM_000548.5(TSC2):c.4810G>A (p.Gly1604Ser)

SNV
Germline

Chr16:2086340

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA052491

rs_771289256

4 SubmittersRCV001871346 RCV004010765 RCV004041358 RCV006275100

NM_000548.5(TSC2):c.794G>T (p.Gly265Val)

SNV
Germline

Chr16:2057124

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394313074

rs_1188591008

3 SubmittersRCV002034388 RCV002255717

NM_000368.5(TSC1):c.2391+1G>A

SNV
Germline

Chr9:132902604

Conflicting classifications of pathogenicity

Isolated focal cortical dysplasia type II
Condition: not provided
Tuberous sclerosis 1

Criteria Provided
Conflicting Classifications

CA375358973

rs_1060503224

3 SubmittersRCV005412347 RCV005623463 RCV001961504

NM_000548.5(TSC2):c.3967G>A (p.Ala1323Thr)

SNV
Germline

Chr16:2083778

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA394297507

rs_1248093496

5 SubmittersRCV001877964 RCV002256859 RCV003151361

NM_000548.5(TSC2):c.1808C>T (p.Thr603Ile)

SNV
Germline

Chr16:2070547

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394272966

rs_1318655892

2 SubmittersRCV001951847 RCV004043586

NM_000548.5(TSC2):c.4982C>T (p.Thr1661Ile)

SNV
Germline

Chr16:2086864

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA053177

rs_776541842

3 SubmittersRCV001884205 RCV004804283

NM_000368.5(TSC1):c.2023G>C (p.Asp675His)

SNV
Germline

Chr9:132904429

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA030660

rs_768189353

4 SubmittersRCV001921031 RCV002423041 RCV006550683

NM_000548.5(TSC2):c.125C>T (p.Ala42Val)

SNV
Germline

Chr16:2048740

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA276768623

rs_199562226

2 SubmittersRCV001969899 RCV002407144

NM_000368.5(TSC1):c.364-1G>T

SNV
Germline

Chr9:132923493

Pathogenic

Tuberous sclerosis 1

Criteria Provided
Single Submitter

CA375373783

rs_118203376

1 SubmittersRCV001899970

NM_000548.5(TSC2):c.1808C>G (p.Thr603Ser)

SNV
Germline

Chr16:2070547

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394272965

rs_1318655892

4 SubmittersRCV001932092 RCV002406943 RCV004804262

NM_000368.5(TSC1):c.363+5G>C

SNV
Germline

Chr9:132925582

Likely pathogenic

Tuberous sclerosis 1

Criteria Provided
Single Submitter

CA2573144214

rs_118203374

1 SubmittersRCV002016665

NM_000548.5(TSC2):c.4994A>G (p.Gln1665Arg)

SNV
Germline

Chr16:2087867

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA053440

rs_747018176

2 SubmittersRCV002018256 RCV002337145

NM_000368.5(TSC1):c.2503-20T>G

SNV
Germline

Chr9:132900857

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA033114

rs_539758749

2 SubmittersRCV002028631 RCV002223335

NM_000548.5(TSC2):c.3611-3C>T

SNV
Germline

Chr16:2081592

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA047831

rs_753716627

2 SubmittersRCV001975771 RCV003170268

NM_000548.5(TSC2):c.4936G>C (p.Val1646Leu)

SNV
Germline

Chr16:2086818

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
not specified

Criteria Provided
Conflicting Classifications

CA394308719

rs_1064796970

2 SubmittersRCV001975922 RCV002246632

NM_000368.5(TSC1):c.2674A>T (p.Arg892Ter)

SNV
Germline

Chr9:132897562

Pathogenic

Tuberous sclerosis 1

Criteria Provided
Single Submitter

CA375369531

rs_2131637455

1 SubmittersRCV001987759

NM_000548.5(TSC2):c.3814+14C>T

SNV
Germline

Chr16:2081812

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
not specified

Criteria Provided
Conflicting Classifications

CA048496

rs_374139943

3 SubmittersRCV001975692 RCV005016983 RCV005419293

NM_000548.5(TSC2):c.1180C>A (p.Leu394Met)

SNV
Germline

Chr16:2061931

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394320513

rs_1409309186

4 SubmittersRCV001966993 RCV003464339 RCV005016984 RCV005764533

NM_000548.5(TSC2):c.5237A>C (p.His1746Pro)

SNV
Germline

Chr16:2088303

Likely pathogenic

Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA394314610

rs_2151631825

2 SubmittersRCV001969546 RCV002497929

NM_000368.5(TSC1):c.214C>T (p.Leu72Phe)

SNV
Germline

Chr9:132925736

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA031578

rs_759183842

4 SubmittersRCV001908916 RCV004010824 RCV004042567 RCV006258695

NM_000548.5(TSC2):c.4490C>T (p.Pro1497Leu)

SNV
Germline

Chr16:2084712

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394302616

rs_45497997

1 SubmittersRCV001949222

NM_000368.5(TSC1):c.738-1G>C

SNV
Germline

Chr9:132912458

Pathogenic

Tuberous sclerosis 1

Criteria Provided
Single Submitter

CA375369753

rs_1564490210

1 SubmittersRCV001972674

NM_000548.5(TSC2):c.2455A>G (p.Ile819Val)

SNV
Germline

Chr16:2074299

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394277487

rs_1426302691

3 SubmittersRCV002036977 RCV002463109 RCV002454322

NM_000548.5(TSC2):c.5080C>G (p.Leu1694Val)

SNV
Germline

Chr16:2088059

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394311988

rs_760781650

2 SubmittersRCV001889561 RCV004946832

NM_000548.5(TSC2):c.3671A>T (p.Asn1224Ile)

SNV
Germline

Chr16:2081655

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394292203

rs_1434962054

2 SubmittersRCV001951900 RCV002344041

NM_000368.5(TSC1):c.1888A>T (p.Lys630Ter)

SNV
Germline

Chr9:132905690

Pathogenic

Tuberous sclerosis 1

Criteria Provided
Single Submitter

CA375362900

rs_1158059433

1 SubmittersRCV001940344

NM_000548.5(TSC2):c.4265C>A (p.Thr1422Asn)

SNV
Germline

Chr16:2084487

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA276753382

rs_760230300

2 SubmittersRCV002017604 RCV002331603

NM_000548.5(TSC2):c.3292C>G (p.Pro1098Ala)

SNV
Germline

Chr16:2079564

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA394286456

rs_772686090

2 SubmittersRCV001943754 RCV004728945

NM_000368.5(TSC1):c.3055A>G (p.Lys1019Glu)

SNV
Germline

Chr9:132896675

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA375367681

rs_1317622700

3 SubmittersRCV001997002 RCV002442932 RCV004010974

NM_000548.5(TSC2):c.2203T>C (p.Ser735Pro)

SNV
Germline

Chr16:2072346

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA037096

rs_753059579

2 SubmittersRCV001962286 RCV004040390

NM_000368.5(TSC1):c.413C>A (p.Thr138Asn)

SNV
Germline

Chr9:132923443

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA375373552

rs_1163879822

3 SubmittersRCV002006203 RCV003289351 RCV004011070

NM_000548.5(TSC2):c.2T>A (p.Met1Lys)

SNV
Germline

Chr16:2048617

Likely pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394300404

rs_2084667702

1 SubmittersRCV001891847

NM_000548.5(TSC2):c.2260C>T (p.Pro754Ser)

SNV
Germline

Chr16:2072888

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA037977

rs_752603642

2 SubmittersRCV002010862 RCV005505378

NM_000548.5(TSC2):c.41A>G (p.Lys14Arg)

SNV
Germline

Chr16:2048656

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA394300893

rs_1263108967

5 SubmittersRCV001901149 RCV002256862 RCV004770264 RCV005437405

NM_000548.5(TSC2):c.3940C>G (p.Pro1314Ala)

SNV
Germline

Chr16:2083751

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA049666

rs_771499212

3 SubmittersRCV002014616 RCV002352647 RCV003471109

NM_000548.5(TSC2):c.5160+3G>T

SNV
Germline

Chr16:2088142

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA2573151973

rs_45517401

1 SubmittersRCV002014902

NM_000548.5(TSC2):c.2885C>T (p.Pro962Leu)

SNV
Germline

Chr16:2077645

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA042556

rs_367640434

3 SubmittersRCV002028896 RCV002441196 RCV002498022

NM_000368.5(TSC1):c.3303G>T (p.Glu1101Asp)

SNV
Germline

Chr9:132896427

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Lymphangiomyomatosis
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA375366667

rs_118203751

2 SubmittersRCV002029056 RCV005050515

NM_000548.5(TSC2):c.5047G>C (p.Val1683Leu)

SNV
Germline

Chr16:2087920

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394311528

rs_1596455392

5 SubmittersRCV001919946 RCV002334833 RCV002291783 RCV004010800

NM_000368.5(TSC1):c.1636G>T (p.Asp546Tyr)

SNV
Germline

Chr9:132905942

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA029277

rs_774671298

3 SubmittersRCV001972251 RCV002388889 RCV006550727

NM_000548.5(TSC2):c.1840-8C>G

SNV
Germline

Chr16:2071502

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA2202021363

rs_778905320

2 SubmittersRCV001916922 RCV005016852

NM_000548.5(TSC2):c.4249C>G (p.Arg1417Gly)

SNV
Germline

Chr16:2084471

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394300432

rs_774338461

2 SubmittersRCV001977688 RCV002331553

NM_000368.5(TSC1):c.2711C>A (p.Thr904Asn)

SNV
Germline

Chr9:132897525

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA375369384

rs_1564471932

4 SubmittersRCV001867394 RCV005298896 RCV006258677 RCV006550586

NM_000548.5(TSC2):c.2000C>T (p.Thr667Ile)

SNV
Germline

Chr16:2071837

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA035548

rs_781533796

2 SubmittersRCV001901269 RCV003303325

NM_000368.5(TSC1):c.1030-2A>G

SNV
Germline

Chr9:132911115

Pathogenic

Tuberous sclerosis 1

Criteria Provided
Single Submitter

CA375367946

rs_2131965369

1 SubmittersRCV002037862

NM_000548.5(TSC2):c.4591G>A (p.Val1531Met)

SNV
Germline

Chr16:2085251

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA051890

rs_762797016

3 SubmittersRCV001912759 RCV002334838 RCV004804289

NM_000548.5(TSC2):c.2412C>A (p.Cys804Ter)

SNV
Germline

Chr16:2074256

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394277172

rs_763123951

1 SubmittersRCV001994647

NM_000548.5(TSC2):c.4645T>C (p.Tyr1549His)

SNV
Germline

Chr16:2085305

Likely pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394304973

rs_45488595

1 SubmittersRCV002024455

NM_000548.5(TSC2):c.4758C>G (p.Asp1586Glu)

SNV
Germline

Chr16:2086288

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394307812

rs_1366814192

3 SubmittersRCV002024531 RCV002337164 RCV006550869

NM_000368.5(TSC1):c.820G>A (p.Gly274Ser)

SNV
Germline

Chr9:132912375

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA375369390

rs_1389310342

2 SubmittersRCV001866562 RCV003346714

NM_000548.5(TSC2):c.1929C>A (p.Tyr643Ter)

SNV
Germline

Chr16:2071599

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394273312

rs_368710573

1 SubmittersRCV002035448

NM_000548.5(TSC2):c.2743-1G>T

SNV
Germline

Chr16:2076490

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394279752

rs_45517263

1 SubmittersRCV001908155

NM_000368.5(TSC1):c.275T>G (p.Leu92Ter)

SNV
Germline

Chr9:132925675

Pathogenic

Tuberous sclerosis 1

Criteria Provided
Single Submitter

CA375374624

rs_2132234958

1 SubmittersRCV001942258

NM_000368.5(TSC1):c.944C>G (p.Ser315Cys)

SNV
Germline

Chr9:132911538

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA375368705

rs_1332978347

4 SubmittersRCV001872967 RCV004009238 RCV006287507

NM_000548.5(TSC2):c.2546-6C>A

SNV
Germline

Chr16:2075793

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA2573151527

rs_372088609

2 SubmittersRCV001896575 RCV004946844

NM_000368.5(TSC1):c.508+2T>C

SNV
Germline

Chr9:132923346

Pathogenic/Likely pathogenic

Tuberous sclerosis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA375373084

rs_2132185885

2 SubmittersRCV001941863

NM_000548.5(TSC2):c.391C>T (p.Pro131Ser)

SNV
Germline

Chr16:2054350

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394306913

rs_777398393

3 SubmittersRCV001924768 RCV002359353 RCV004010761

NM_000368.5(TSC1):c.371C>G (p.Thr124Ser)

SNV
Germline

Chr9:132923485

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA037363

rs_747251435

3 SubmittersRCV001979531 RCV002344130 RCV003464332

NM_000548.5(TSC2):c.5260-2A>C

SNV
Germline

Chr16:2088444

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided
Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA394314985

rs_1374323400

3 SubmittersRCV002012697 RCV003442993 RCV005017031

NM_000548.5(TSC2):c.2154C>G (p.Arg718=)

SNV
Germline

Chr16:2072297

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA493042685

rs_878854081

2 SubmittersRCV001986836 RCV005749972

NM_000548.5(TSC2):c.5337G>C (p.Gln1779His)

SNV
Germline

Chr16:2088523

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA055156

rs_768237144

2 SubmittersRCV002009401 RCV003303632

NM_000548.5(TSC2):c.2011G>A (p.Gly671Ser)

SNV
Germline

Chr16:2071848

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA394274467

rs_1268191908

3 SubmittersRCV001893773 RCV002423000 RCV004774519

NM_000548.5(TSC2):c.2544C>A (p.Ser848=)

SNV
Germline

Chr16:2074388

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA492953271

rs_2151356741

3 SubmittersRCV002016449 RCV004729037 RCV006287586

NM_000368.5(TSC1):c.1602G>T (p.Glu534Asp)

SNV
Germline

Chr9:132905976

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA375364781

rs_1419023919

2 SubmittersRCV002037501 RCV002397768

NM_000368.5(TSC1):c.2897A>G (p.Tyr966Cys)

SNV
Germline

Chr9:132897262

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA034941

rs_762213436

4 SubmittersRCV002030186 RCV002506872 RCV003164015 RCV003442920

NM_000548.5(TSC2):c.4848A>G (p.Gln1616=)

SNV
Germline

Chr16:2086378

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA052718

rs_762819541

2 SubmittersRCV001950035 RCV004041891

NM_000548.5(TSC2):c.216A>C (p.Lys72Asn)

SNV
Germline

Chr16:2050477

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394303591

rs_1201047547

2 SubmittersRCV002050196 RCV003164014

NM_000368.5(TSC1):c.2612C>G (p.Ser871Ter)

SNV
Germline

Chr9:132900728

Pathogenic

Tuberous sclerosis 1

Criteria Provided
Single Submitter

CA375369868

rs_1166302175

1 SubmittersRCV001938681

NM_000548.5(TSC2):c.142C>G (p.Leu48Val)

SNV
Germline

Chr16:2050403

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394303079

rs_1486839704

3 SubmittersRCV002043372 RCV003471266 RCV004947044

NM_000548.5(TSC2):c.848G>A (p.Arg283Lys)

SNV
Germline

Chr16:2057178

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394313591

rs_1255519055

4 SubmittersRCV002044155 RCV002449453 RCV004009180

NM_000548.5(TSC2):c.2699G>A (p.Cys900Tyr)

SNV
Germline

Chr16:2076127

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394279431

rs_2089323124

1 SubmittersRCV001963015

NM_000548.5(TSC2):c.2866G>T (p.Gly956Cys)

SNV
Germline

Chr16:2077626

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA042481

rs_769199118

2 SubmittersRCV001952606 RCV005288635

NM_000548.5(TSC2):c.1716+15C>G

SNV
Germline

Chr16:2065650

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Lymphangiomyomatosis

Criteria Provided
Conflicting Classifications

CA620373894

rs_199964793

2 SubmittersRCV001880847 RCV002482614

NM_000548.5(TSC2):c.4849+1G>T

SNV
Germline

Chr16:2086380

Pathogenic

Tuberous sclerosis 2
TSC2-related disorder

Criteria Provided
Single Submitter

CA394308166

rs_45517375

2 SubmittersRCV001952499 RCV004538642

NM_000548.5(TSC2):c.3131G>C (p.Arg1044Thr)

SNV
Germline

Chr16:2079196

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394285020

rs_397515302

1 SubmittersRCV001949419

NM_000548.5(TSC2):c.884C>A (p.Ala295Asp)

SNV
Germline

Chr16:2058782

Conflicting classifications of pathogenicity

Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA394315140

rs_1596288578

2 SubmittersRCV002045836

NM_000368.5(TSC1):c.3379G>T (p.Val1127Leu)

SNV
Germline

Chr9:132896351

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA375366493

rs_1845037495

2 SubmittersRCV001992257 RCV002458957

NM_000548.5(TSC2):c.1947-1G>T

SNV
Germline

Chr16:2071783

Likely pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA276737578

rs_397515310

1 SubmittersRCV002005918

NM_000368.5(TSC1):c.442A>T (p.Lys148Ter)

SNV
Germline

Chr9:132923414

Pathogenic

Tuberous sclerosis 1

Criteria Provided
Single Submitter

CA375373409

rs_2132189676

1 SubmittersRCV001906614

NM_000368.5(TSC1):c.1034C>T (p.Thr345Ile)

SNV
Germline

Chr9:132911109

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
TSC1-related disorder
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA375367899

rs_1845934094

4 SubmittersRCV001944039 RCV003416635 RCV004042062 RCV006258708

NM_000368.5(TSC1):c.2578G>A (p.Glu860Lys)

SNV
Germline

Chr9:132900762

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA375370027

rs_1169898186

2 SubmittersRCV002047260 RCV002458649

NM_000548.5(TSC2):c.3164G>A (p.Gly1055Asp)

SNV
Germline

Chr16:2079308

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394285373

rs_1443030830

2 SubmittersRCV001918275 RCV005300997

NM_000548.5(TSC2):c.4343G>A (p.Ser1448Asn)

SNV
Germline

Chr16:2084565

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Lymphangiomyomatosis

Criteria Provided
Conflicting Classifications

CA050888

rs_776137955

3 SubmittersRCV001941116 RCV002331482 RCV005006256

NM_000368.5(TSC1):c.247G>A (p.Ala83Thr)

SNV
Germline

Chr9:132925703

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA032818

rs_76667066

2 SubmittersRCV001923422 RCV004043543

NM_000548.5(TSC2):c.387T>A (p.Asp129Glu)

SNV
Germline

Chr16:2054346

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394306884

rs_1202650869

2 SubmittersRCV001955733 RCV004010965

NM_000368.5(TSC1):c.147C>G (p.Tyr49Ter)

SNV
Germline

Chr9:132927264

Pathogenic

Tuberous sclerosis 1

Criteria Provided
Single Submitter

CA375375153

rs_2132268804

1 SubmittersRCV001902215

NM_000368.5(TSC1):c.1432G>T (p.Glu478Ter)

SNV
Germline

Chr9:132906737

Pathogenic

Tuberous sclerosis 1

Criteria Provided
Single Submitter

CA375365758

rs_1393065957

1 SubmittersRCV001940495

NM_000368.5(TSC1):c.721G>T (p.Glu241Ter)

SNV
Germline

Chr9:132921379

Pathogenic

Tuberous sclerosis 1

Criteria Provided
Single Submitter

CA375371258

rs_2132134052

1 SubmittersRCV001958692

NM_000548.5(TSC2):c.2158A>T (p.Lys720Ter)

SNV
Germline

Chr16:2072301

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394274863

rs_1195091149

1 SubmittersRCV001958760

NM_000368.5(TSC1):c.851G>T (p.Arg284Leu)

SNV
Germline

Chr9:132912344

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA375369241

rs_151309813

2 SubmittersRCV001978343 RCV004011077

NM_000548.5(TSC2):c.1690G>C (p.Val564Leu)

SNV
Germline

Chr16:2065609

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA032314

rs_147072281

5 SubmittersRCV001983401 RCV002407251 RCV004011078 RCV004763291

NM_000368.5(TSC1):c.1029+1G>C

SNV
Germline

Chr9:132911452

Pathogenic/Likely pathogenic

Tuberous sclerosis 1
Ovarian serous cystadenocarcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA375368379

rs_118203485

3 SubmittersRCV001913520 RCV005924109

NM_000548.5(TSC2):c.2967C>T (p.Ser989=)

SNV
Germline

Chr16:2079032

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA043543

rs_766417784

2 SubmittersRCV002023926 RCV004947051

NM_000548.5(TSC2):c.2967-15G>A

SNV
Germline

Chr16:2079017

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA043359

rs_375423568

3 SubmittersRCV001942569 RCV002490018 RCV006550584

NM_000548.5(TSC2):c.4662+7C>G

SNV
Germline

Chr16:2085329

Conflicting classifications of pathogenicity

Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA2573151929

rs_1555515435

2 SubmittersRCV002021033

NM_000548.5(TSC2):c.1510G>T (p.Val504Phe)

SNV
Germline

Chr16:2064338

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA030954

rs_768707639

2 SubmittersRCV005288702 RCV002024073

NM_000548.5(TSC2):c.3947G>A (p.Gly1316Glu)

SNV
Germline

Chr16:2083758

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394297381

rs_1555513513

2 SubmittersRCV001924562 RCV002359350

NM_000548.5(TSC2):c.4936G>T (p.Val1646Leu)

SNV
Germline

Chr16:2086818

Likely pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394308723

rs_1064796970

1 SubmittersRCV001983588

NM_000548.5(TSC2):c.1784A>C (p.Gln595Pro)

SNV
Germline

Chr16:2070523

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA033522

rs_781087045

4 SubmittersRCV001981238 RCV002398069 RCV004011088 RCV005017029

NM_000368.5(TSC1):c.2803C>T (p.Leu935Phe)

SNV
Germline

Chr9:132897433

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA375369018

rs_1172586020

3 SubmittersRCV001984153 RCV002441173 RCV004999596

NM_000548.5(TSC2):c.1275C>T (p.Asn425=)

SNV
Germline

Chr16:2062514

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA492962376

rs_878854076

4 SubmittersRCV002134199 RCV002372996 RCV002466742

NM_000548.5(TSC2):c.2546-15T>G

SNV
Germline

Chr16:2075784

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA039704

rs_371256839

2 SubmittersRCV002085193 RCV004804359

NM_000548.5(TSC2):c.4570-15C>A

SNV
Germline

Chr16:2085215

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Lymphangiomyomatosis
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA051701

rs_766813076

3 SubmittersRCV002085199 RCV005008455

NM_000368.5(TSC1):c.3399G>T (p.Leu1133=)

SNV
Germline

Chr9:132896331

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA467812918

rs_2131589934

4 SubmittersRCV002141977 RCV002454467 RCV004005400

NM_000548.5(TSC2):c.1443+4C>A

SNV
Germline

Chr16:2063057

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA2573151637

rs_45517172

3 SubmittersRCV002150462 RCV003382848

NM_000548.5(TSC2):c.1068G>A (p.Val356=)

SNV
Germline

Chr16:2060762

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA028074

rs_760584946

4 SubmittersRCV002186908 RCV004045054 RCV006258747

NM_000548.5(TSC2):c.482-13G>A

SNV
Germline

Chr16:2055389

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA718905702

rs_1221885368

5 SubmittersRCV002103252 RCV002258377 RCV004804371

NM_000548.5(TSC2):c.600-4G>T

SNV
Germline

Chr16:2056192

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA276772708

rs_976201466

4 SubmittersRCV002123794 RCV002352904 RCV004005455

NM_000548.5(TSC2):c.2046G>T (p.Gly682=)

SNV
Germline

Chr16:2071883

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Tuberous sclerosis syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA493042610

rs_749536123

3 SubmittersRCV002199817 RCV004011230 RCV004999629

NM_000548.5(TSC2):c.2837+13G>C

SNV
Germline

Chr16:2076598

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA2202020747

rs_2089421033

2 SubmittersRCV002155570 RCV005017136

NM_000548.5(TSC2):c.2943T>C (p.Ser981=)

SNV
Germline

Chr16:2077703

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA492954972

rs_1596375342

2 SubmittersRCV002147776 RCV004947133

NM_000548.5(TSC2):c.2640-15C>G

SNV
Germline

Chr16:2076053

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA2573151558

rs_1011282445

2 SubmittersRCV002098091 RCV004005352

NM_000548.5(TSC2):c.337-15G>C

SNV
Germline

Chr16:2054281

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA046224

rs_772983704

4 SubmittersRCV002124096 RCV004005458

NM_000368.5(TSC1):c.2391+12A>G

SNV
Germline

Chr9:132902593

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2573144224

rs_2131727338

2 SubmittersRCV002097367 RCV003326610

NM_000548.5(TSC2):c.3883+17G>A

SNV
Germline

Chr16:2082521

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA718915382

rs_1207142968

2 SubmittersRCV002093645 RCV005017124

NM_000548.5(TSC2):c.3285-5C>G

SNV
Germline

Chr16:2079552

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA2573151665

rs_1444989940

2 SubmittersRCV002202622 RCV006552918

NM_000548.5(TSC2):c.1840-5G>C

SNV
Germline

Chr16:2071505

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA2573151544

rs_2151295776

3 SubmittersRCV002202817 RCV002407366

NM_000548.5(TSC2):c.3682C>T (p.Leu1228=)

SNV
Germline

Chr16:2081666

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA276750050

rs_938124834

4 SubmittersRCV002122603 RCV004046307 RCV004005395

NM_000548.5(TSC2):c.4750C>T (p.Leu1584=)

SNV
Germline

Chr16:2086280

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA493043546

rs_2151572888

4 SubmittersRCV002191915 RCV006258772 RCV005515332

NM_000368.5(TSC1):c.2440C>T (p.Leu814=)

SNV
Germline

Chr9:132901651

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 1

Criteria Provided
Conflicting Classifications

CA200885155

rs_199517042

2 SubmittersRCV002120576 RCV003224617

NM_000548.5(TSC2):c.2883A>T (p.Pro961=)

SNV
Germline

Chr16:2077643

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA492954908

rs_1596374943

3 SubmittersRCV002173081 RCV005017109

NM_000548.5(TSC2):c.2356-12T>C

SNV
Germline

Chr16:2074188

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA620706056

rs_1388493955

2 SubmittersRCV002217258 RCV004005317

NM_000368.5(TSC1):c.2503-12T>C

SNV
Germline

Chr9:132900849

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Tuberous sclerosis syndrome
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis

Criteria Provided
Conflicting Classifications

CA033051

rs_765263617

5 SubmittersRCV002120377 RCV004005392 RCV005042730

NM_000548.5(TSC2):c.1257+5G>A

SNV
Germline

Chr16:2062013

Conflicting classifications of pathogenicity

Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA2573151587

rs_2151157428

2 SubmittersRCV002226880

NM_000368.5(TSC1):c.1997+1G>T

SNV
Germline

Chr9:132905580

Pathogenic

Tuberous sclerosis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA375362205

rs_118203610

2 SubmittersRCV002246788

NM_000548.5(TSC2):c.2220G>A (p.Met740Ile)

SNV
Germline

Chr16:2072363

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA394275183

rs_2151319848

3 SubmittersRCV002247194 RCV002427735 RCV003774723

NM_000368.5(TSC1):c.1830G>A (p.Val610=)

SNV
Germline

Chr9:132905748

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1

Criteria Provided
Conflicting Classifications

CA467813155

rs_2131820356

4 SubmittersRCV002258531 RCV003774772

NM_000368.5(TSC1):c.2479C>T (p.Leu827=)

SNV
Germline

Chr9:132901612

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1

Criteria Provided
Conflicting Classifications

CA467590441

rs_2131704085

3 SubmittersRCV002258533 RCV005621162

NM_000368.5(TSC1):c.50C>G (p.Pro17Arg)

SNV
Germline

Chr9:132928823

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1

Criteria Provided
Conflicting Classifications

CA375375370

rs_1189239082

3 SubmittersRCV002255908 RCV003094218

NM_000548.5(TSC2):c.1081C>T (p.Leu361=)

SNV
Germline

Chr16:2060775

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA492961057

rs_796053483

2 SubmittersRCV002258554 RCV003094226

NM_000548.5(TSC2):c.1542C>T (p.Asp514=)

SNV
Germline

Chr16:2064370

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA492963001

rs_2151190617

2 SubmittersRCV002258555 RCV005095894

NM_000548.5(TSC2):c.2221-10T>C

SNV
Germline

Chr16:2072839

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA2573151609

rs_2151325875

3 SubmittersRCV002257226 RCV005095895

NM_000548.5(TSC2):c.2592G>A (p.Gln864=)

SNV
Germline

Chr16:2075845

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA492953483

rs_763099064

4 SubmittersRCV002257230 RCV003094228

NM_000548.5(TSC2):c.3300G>A (p.Val1100=)

SNV
Germline

Chr16:2079572

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA045658

rs_765436350

3 SubmittersRCV002258558 RCV003120858

NM_000548.5(TSC2):c.4989+7G>C

SNV
Germline

Chr16:2086878

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA2573151960

rs_1460236999

3 SubmittersRCV002258562 RCV003626699

NM_000548.5(TSC2):c.649-13C>T

SNV
Germline

Chr16:2056631

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA620373167

rs_1290261668

3 SubmittersRCV002255925 RCV003626700

NM_000548.5(TSC2):c.2532G>A (p.Leu844=)

SNV
Germline

Chr16:2074376

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 2
Lymphangiomyomatosis
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA492953265

rs_2151356150

3 SubmittersRCV002262498 RCV005095927 RCV005397351

NM_000368.5(TSC1):c.1812T>G (p.Tyr604Ter)

SNV
Germline

Chr9:132905766

Pathogenic

Tuberous sclerosis 1

Criteria Provided
Single Submitter

CA375363358

rs_2131821679

1 SubmittersRCV002267150

NM_000368.5(TSC1):c.585C>G (p.Tyr195Ter)

SNV
Germline

Chr9:132921897

Pathogenic

Tuberous sclerosis 1

Criteria Provided
Single Submitter

CA375372602

rs_118203407

1 SubmittersRCV002267151

NM_000548.5(TSC2):c.1327C>T (p.Gln443Ter)

SNV
Germline

Chr16:2062566

Pathogenic

Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA394322417

rs_2151164702

2 SubmittersRCV002267202 RCV006437142

NM_000548.5(TSC2):c.4033A>T (p.Lys1345Ter)

SNV
Germline

Chr16:2084255

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394299260

rs_2151521044

1 SubmittersRCV002267203

NM_000548.5(TSC2):c.2220+2T>C

SNV
Germline

Chr16:2072365

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394275196

rs_397515121

1 SubmittersRCV002267204

NM_000548.5(TSC2):c.5024C>G (p.Pro1675Arg)

SNV
Germline

Chr16:2087897

Pathogenic/Likely pathogenic

Condition: not provided
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA394311261

rs_45483392

3 SubmittersRCV002267440 RCV003512143

NM_000368.5(TSC1):c.1551G>T (p.Arg517=)

SNV
Germline

Chr9:132906027

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA467591044

rs_2131842617

3 SubmittersRCV002269406 RCV005095963 RCV005505429

NM_000548.5(TSC2):c.2460C>T (p.Ile820=)

SNV
Germline

Chr16:2074304

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA492953112

rs_2151352359

3 SubmittersRCV002273647 RCV003096167 RCV004948668

NM_000548.5(TSC2):c.843G>T (p.Glu281Asp)

SNV
Germline

Chr16:2057173

Likely pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394313540

rs_2151088094

1 SubmittersRCV002274816

NM_000548.5(TSC2):c.2261C>T (p.Pro754Leu)

SNV
Germline

Chr16:2072889

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA394276412

rs_2088690950

2 SubmittersRCV002274817 RCV004770435

NM_000548.5(TSC2):c.2339T>C (p.Leu780Pro)

SNV
Germline

Chr16:2072967

Conflicting classifications of pathogenicity

Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA394276682

rs_2151328709

2 SubmittersRCV002274818

NM_000548.5(TSC2):c.5165C>A (p.Ala1722Asp)

SNV
Germline

Chr16:2088231

Likely pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394313855

rs_1373235682

1 SubmittersRCV002274819

NM_000548.5(TSC2):c.1599+4A>C

SNV
Germline

Chr16:2064431

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA2580090505

rs_2151192256

1 SubmittersRCV002274867

NM_000548.5(TSC2):c.600-124G>A

SNV
Germline

Chr16:2056072

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA656219088

rs_2151069014

1 SubmittersRCV002274869

NM_000368.5(TSC1):c.363+668G>T

SNV
Germline

Chr9:132924919

Pathogenic/Likely pathogenic

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA2580080071

rs_2132219029

3 SubmittersRCV002274870 RCV005301140

NM_000368.5(TSC1):c.1798C>T (p.Gln600Ter)

SNV
Germline

Chr9:132905780

Likely pathogenic

Tuberous sclerosis 1

Criteria Provided
Single Submitter

CA375363442

rs_2131822866

1 SubmittersRCV002283809

NM_000548.5(TSC2):c.775-2A>G

SNV
Germline

Chr16:2057103

Likely pathogenic

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA394312923

rs_2548472327

3 SubmittersRCV002283848 RCV002409634

NM_000548.5(TSC2):c.5092A>C (p.Ser1698Arg)

SNV
Germline

Chr16:2088071

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA394312112

rs_1397179937

5 SubmittersRCV002286560 RCV003308099 RCV003322914

NM_000548.5(TSC2):c.4441A>T (p.Lys1481Ter)

SNV
Germline

Chr16:2084663

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394302321

rs_1596418520

1 SubmittersRCV002287848

NM_000548.5(TSC2):c.2117T>C (p.Leu706Pro)

SNV
Germline

Chr16:2072260

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA394274786

rs_2151316174

3 SubmittersRCV002290060 RCV004721038

NM_000368.5(TSC1):c.2810C>T (p.Ala937Val)

SNV
Germline

Chr9:132897426

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA375368989

rs_2131630360

2 SubmittersRCV002290321 RCV005288750

NM_000368.5(TSC1):c.562T>G (p.Phe188Val)

SNV
Germline

Chr9:132921920

Likely pathogenic

Tuberous sclerosis 1

Criteria Provided
Single Submitter

CA375372717

rs_2539014270

1 SubmittersRCV002290358

NM_000548.5(TSC2):c.2050G>C (p.Val684Leu)

SNV
Germline

Chr16:2071887

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA394274596

rs_779275341

3 SubmittersRCV002304796 RCV002416565 RCV003395449

NM_000548.5(TSC2):c.2542T>C (p.Ser848Pro)

SNV
Germline

Chr16:2074386

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394278037

rs_2543829026

2 SubmittersRCV002301505 RCV002454625

NM_000368.5(TSC1):c.3088A>G (p.Ser1030Gly)

SNV
Germline

Chr9:132896642

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA375367515

rs_1588287783

3 SubmittersRCV002295137 RCV003375621 RCV004005609

NM_000548.5(TSC2):c.3085A>C (p.Met1029Leu)

SNV
Germline

Chr16:2079150

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA044140

rs_780572757

2 SubmittersRCV002325736 RCV005096141

NM_000548.5(TSC2):c.3217G>T (p.Val1073Leu)

SNV
Germline

Chr16:2079361

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA394285899

rs_749192298

4 SubmittersRCV002324652 RCV004005618 RCV006470505

NM_000368.5(TSC1):c.3222C>G (p.Ile1074Met)

SNV
Germline

Chr9:132896508

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1

Criteria Provided
Conflicting Classifications

CA375366960

rs_1235657856

2 SubmittersRCV002445492 RCV003614101

NM_000548.5(TSC2):c.337-5T>C

SNV
Germline

Chr16:2054291

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA2580090646

rs_2548412653

3 SubmittersRCV002451776 RCV004005625 RCV005621168

NM_000368.5(TSC1):c.3157C>G (p.His1053Asp)

SNV
Germline

Chr9:132896573

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1

Criteria Provided
Conflicting Classifications

CA375367213

rs_1845068091

2 SubmittersRCV002320876 RCV003099242

NM_000548.5(TSC2):c.3976A>G (p.Met1326Val)

SNV
Germline

Chr16:2083787

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA394297572

rs_2151513326

3 SubmittersRCV002357722 RCV003512149 RCV005865566

NM_000548.5(TSC2):c.4346C>A (p.Ser1449Tyr)

SNV
Germline

Chr16:2084568

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA394301536

rs_759004251

2 SubmittersRCV002332224 RCV003626721

NM_000548.5(TSC2):c.4358C>T (p.Pro1453Leu)

SNV
Germline

Chr16:2084580

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA050977

rs_748182471

3 SubmittersRCV002332311 RCV003102573

NM_000548.5(TSC2):c.3262C>G (p.Leu1088Val)

SNV
Germline

Chr16:2079406

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA045043

rs_375934693

2 SubmittersRCV002445659 RCV006616673

NM_000368.5(TSC1):c.1141+3A>G

SNV
Germline

Chr9:132910999

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1

Criteria Provided
Conflicting Classifications

CA2580079993

rs_2131956082

2 SubmittersRCV002456982 RCV003505213

NM_000548.5(TSC2):c.3608C>T (p.Thr1203Ile)

SNV
Germline

Chr16:2080375

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA394289751

rs_397515030

4 SubmittersRCV002455288 RCV003099616 RCV003886574

NM_000548.5(TSC2):c.4440A>C (p.Leu1480Phe)

SNV
Germline

Chr16:2084662

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394302311

rs_756991335

2 SubmittersRCV002328274 RCV006553203

NM_000548.5(TSC2):c.4663-2A>G

SNV
Germline

Chr16:2086191

Pathogenic

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA394306824

rs_2151569037

2 SubmittersRCV002335117 RCV003512154

NM_000548.5(TSC2):c.4714A>G (p.Thr1572Ala)

SNV
Germline

Chr16:2086244

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA394307417

rs_1567532805

2 SubmittersRCV002335355 RCV006470748

NM_000548.5(TSC2):c.5195C>T (p.Pro1732Leu)

SNV
Germline

Chr16:2088261

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA394314204

rs_1446388626

3 SubmittersRCV002338531 RCV003464468 RCV003512158

NM_000548.5(TSC2):c.4629C>G (p.His1543Gln)

SNV
Germline

Chr16:2085289

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA051970

rs_751873212

3 SubmittersRCV002342542 RCV003626723 RCV004005669

NM_000548.5(TSC2):c.5120A>C (p.Asn1707Thr)

SNV
Germline

Chr16:2088099

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA394312371

rs_772439098

2 SubmittersRCV002344190 RCV003096623

NM_000548.5(TSC2):c.4570-5C>T

SNV
Germline

Chr16:2085225

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA2580091031

rs_2151549469

4 SubmittersRCV002342140 RCV003094766 RCV006553209

NM_000548.5(TSC2):c.4589C>A (p.Ser1530Ter)

SNV
Germline

Chr16:2085249

Pathogenic

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA394304466

rs_1567528487

2 SubmittersRCV002342252 RCV006470729

NM_000368.5(TSC1):c.52A>G (p.Met18Val)

SNV
Germline

Chr9:132928821

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1

Criteria Provided
Conflicting Classifications

CA375375368

rs_762059806

2 SubmittersRCV002344573 RCV003102720

NM_000548.5(TSC2):c.5347G>C (p.Glu1783Gln)

SNV
Germline

Chr16:2088533

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA394315713

rs_777166275

2 SubmittersRCV002346918 RCV003776092

NM_000548.5(TSC2):c.497A>G (p.Gln166Arg)

SNV
Germline

Chr16:2055417

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA276771986

rs_954041989

2 SubmittersRCV002342884 RCV003096547

NM_000548.5(TSC2):c.498G>A (p.Gln166=)

SNV
Germline

Chr16:2055418

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA492955732

rs_2085655247

2 SubmittersRCV002342939 RCV003096553

NM_000368.5(TSC1):c.523G>A (p.Val175Ile)

SNV
Germline

Chr9:132921959

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Tuberous sclerosis 1

Criteria Provided
Conflicting Classifications

CA375372898

rs_1564498330

3 SubmittersRCV002344334 RCV006553219 RCV006470817

NM_000548.5(TSC2):c.5260-3C>T

SNV
Germline

Chr16:2088443

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA2575877622

rs_2151637431

2 SubmittersRCV002341023 RCV003512159

NM_000548.5(TSC2):c.1266C>T (p.Ser422=)

SNV
Germline

Chr16:2062505

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA492962348

rs_1476279884

2 SubmittersRCV002373341 RCV003626750

NM_000368.5(TSC1):c.818A>T (p.Asp273Val)

SNV
Germline

Chr9:132912377

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1

Criteria Provided
Conflicting Classifications

CA039075

rs_768057796

2 SubmittersRCV002427837 RCV003103481

NM_000368.5(TSC1):c.899C>A (p.Thr300Lys)

SNV
Germline

Chr9:132912296

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1

Criteria Provided
Conflicting Classifications

CA375369032

rs_370916731

2 SubmittersRCV002449942 RCV003100076

NM_000548.5(TSC2):c.931T>C (p.Ser311Pro)

SNV
Germline

Chr16:2058829

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA056687

rs_775590764

4 SubmittersRCV002371610 RCV003395466 RCV004804457 RCV005621189

NM_000548.5(TSC2):c.938G>A (p.Arg313Lys)

SNV
Germline

Chr16:2058836

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA394315514

rs_2151108833

2 SubmittersRCV002373864 RCV003512164

NM_000368.5(TSC1):c.1024C>T (p.Pro342Ser)

SNV
Germline

Chr9:132911458

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA375368408

rs_1304291054

3 SubmittersRCV002383276 RCV003614143 RCV006553272

NM_000548.5(TSC2):c.1362G>A (p.Arg454=)

SNV
Germline

Chr16:2062972

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA492962529

rs_374252944

3 SubmittersRCV002383523 RCV003626758 RCV004007307

NM_000548.5(TSC2):c.1670T>C (p.Leu557Ser)

SNV
Germline

Chr16:2065589

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA032166

rs_751618728

2 SubmittersRCV002405849 RCV003512173

NM_000368.5(TSC1):c.1640C>T (p.Thr547Ile)

SNV
Germline

Chr9:132905938

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA029286

rs_769040084

3 SubmittersRCV002403545 RCV003097044 RCV006553290

NM_000548.5(TSC2):c.1724T>G (p.Leu575Arg)

SNV
Germline

Chr16:2070463

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA394272665

rs_1567456901

2 SubmittersRCV002414821 RCV003097176

NM_000548.5(TSC2):c.1736C>T (p.Pro579Leu)

SNV
Germline

Chr16:2070475

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394272726

rs_1471786715

3 SubmittersRCV002399248 RCV003097196 RCV004804465

NM_000368.5(TSC1):c.1879C>G (p.Leu627Val)

SNV
Germline

Chr9:132905699

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1

Criteria Provided
Conflicting Classifications

CA375362975

rs_1171110012

2 SubmittersRCV002415255 RCV003100910

NM_000548.5(TSC2):c.1766T>C (p.Met589Thr)

SNV
Germline

Chr16:2070505

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA394272876

rs_796053487

2 SubmittersRCV002401747 RCV003512176

NM_000548.5(TSC2):c.206A>G (p.Lys69Arg)

SNV
Germline

Chr16:2050467

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA036166

rs_756020849

2 SubmittersRCV002422090 RCV003626782

NM_000548.5(TSC2):c.2171T>C (p.Phe724Ser)

SNV
Germline

Chr16:2072314

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA036965

rs_761458933

2 SubmittersRCV002432749 RCV005058744

NM_000368.5(TSC1):c.2502+1G>A

SNV
Germline

Chr9:132901588

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1

Criteria Provided
Conflicting Classifications

CA375358238

rs_2131702478

2 SubmittersRCV002455621 RCV003614178

NM_000548.5(TSC2):c.2691C>T (p.Phe897=)

SNV
Germline

Chr16:2076119

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA492953660

rs_2151387700

2 SubmittersRCV002453196 RCV005098255

NM_000368.5(TSC1):c.2707G>C (p.Asp903His)

SNV
Germline

Chr9:132897529

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1

Criteria Provided
Conflicting Classifications

CA375369400

rs_1229582901

2 SubmittersRCV002437422 RCV003102126

NM_000368.5(TSC1):c.2824C>T (p.Gln942Ter)

SNV
Germline

Chr9:132897335

Pathogenic

Hereditary cancer-predisposing syndrome
TSC1-related disorder
Tuberous sclerosis syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA375368930

rs_2131628564

4 SubmittersRCV002435019 RCV003984262 RCV004007453

NM_000368.5(TSC1):c.2209-2A>G

SNV
Germline

Chr9:132902789

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1

Criteria Provided
Conflicting Classifications

CA375360172

rs_2131742187

2 SubmittersRCV002425823 RCV005098007

NM_000548.5(TSC2):c.220G>T (p.Glu74Ter)

SNV
Germline

Chr16:2050481

Pathogenic

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA394303622

rs_2150997192

2 SubmittersRCV002425846 RCV006471171

NM_000548.5(TSC2):c.264G>C (p.Leu88=)

SNV
Germline

Chr16:2053380

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA492955201

rs_1466279830

3 SubmittersRCV002453057 RCV003102073 RCV006258856

NM_000368.5(TSC1):c.2666A>T (p.Glu889Val)

SNV
Germline

Chr9:132897570

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1

Criteria Provided
Conflicting Classifications

CA034183

rs_765314309

2 SubmittersRCV002437278 RCV005098241

NM_000368.5(TSC1):c.2725A>G (p.Ile909Val)

SNV
Germline

Chr9:132897511

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1

Criteria Provided
Conflicting Classifications

CA375369337

rs_2538491923

2 SubmittersRCV002431323 RCV006559411

NM_000548.5(TSC2):c.2737A>C (p.Thr913Pro)

SNV
Germline

Chr16:2076165

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA394279610

rs_772378578

2 SubmittersRCV002437540 RCV003512186

NM_000548.5(TSC2):c.1120-4G>A

SNV
Germline

Chr16:2061867

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA2580090710

rs_2151153688

2 SubmittersRCV002439805 RCV003626799

NM_000548.5(TSC2):c.2921C>T (p.Ala974Val)

SNV
Germline

Chr16:2077681

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA394281329

rs_1289330733

2 SubmittersRCV002439968 RCV003626800

NM_000548.5(TSC2):c.3031G>T (p.Ala1011Ser)

SNV
Germline

Chr16:2079096

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA394284033

rs_1430119276

2 SubmittersRCV002438118 RCV003102992

NM_000368.5(TSC1):c.3034T>A (p.Ser1012Thr)

SNV
Germline

Chr9:132896696

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1

Criteria Provided
Conflicting Classifications

CA035700

rs_764979889

2 SubmittersRCV002438142 RCV006471391

NM_000368.5(TSC1):c.2973A>G (p.Glu991=)

SNV
Germline

Chr9:132897186

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA467594385

rs_2538473355

3 SubmittersRCV002442119 RCV003505287 RCV006553337

NM_000548.5(TSC2):c.2742+5G>C

SNV
Germline

Chr16:2076175

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA2580090872

rs_397515076

1 SubmittersRCV002463881

NM_000548.5(TSC2):c.3397+4A>G

SNV
Germline

Chr16:2079673

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA2573102942

rs_2544072093

1 SubmittersRCV002471852

NM_000548.5(TSC2):c.294G>A (p.Arg98=)

SNV
Germline

Chr16:2053410

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA492955237

rs_2085370771

5 SubmittersRCV002481164 RCV002571548 RCV003308135 RCV004587356

NM_000548.5(TSC2):c.1946+3A>G

SNV
Germline

Chr16:2071619

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA2580090633

rs_1596342841

2 SubmittersRCV003053106 RCV004676122

NM_000548.5(TSC2):c.770G>A (p.Trp257Ter)

SNV
Germline

Chr16:2056765

Pathogenic

Tuberous sclerosis 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA394312820

rs_2151081778

2 SubmittersRCV003064304 RCV005433970

NM_000548.5(TSC2):c.1523C>T (p.Ala508Val)

SNV
Germline

Chr16:2064351

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394326245

rs_1336558090

2 SubmittersRCV003067129 RCV003171060

NM_000548.5(TSC2):c.1306C>T (p.Pro436Ser)

SNV
Germline

Chr16:2062545

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394322204

rs_1489429320

2 SubmittersRCV003065486 RCV005505574

NM_000548.5(TSC2):c.2546-15T>A

SNV
Germline

Chr16:2075784

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA2580090846

rs_371256839

2 SubmittersRCV003066426 RCV004009299

NM_000548.5(TSC2):c.1065G>A (p.Val355=)

SNV
Germline

Chr16:2060759

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA492960999

rs_2151137423

2 SubmittersRCV003085543 RCV005515485

NM_000548.5(TSC2):c.3995C>T (p.Ala1332Val)

SNV
Germline

Chr16:2083806

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394297766

rs_1166352281

4 SubmittersRCV003078251 RCV003465954 RCV004676138 RCV006546313

NM_000548.5(TSC2):c.4966G>T (p.Asp1656Tyr)

SNV
Germline

Chr16:2086848

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394309030

rs_773255614

1 SubmittersRCV003079200

NM_000548.5(TSC2):c.3958G>T (p.Val1320Phe)

SNV
Germline

Chr16:2083769

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394297440

rs_767495365

2 SubmittersRCV003082514 RCV005515501

NM_000368.5(TSC1):c.2484C>T (p.Leu828=)

SNV
Germline

Chr9:132901607

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA467590435

rs_2131703646

2 SubmittersRCV003095419 RCV005505590

NM_000548.5(TSC2):c.1799A>G (p.His600Arg)

SNV
Germline

Chr16:2070538

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394272944

rs_1413259742

2 SubmittersRCV002581864 RCV004073366

NM_000368.5(TSC1):c.1634C>T (p.Pro545Leu)

SNV
Germline

Chr9:132905944

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA375364558

rs_1464618848

2 SubmittersRCV003073595 RCV006292307

NM_000548.5(TSC2):c.2743-3C>T

SNV
Germline

Chr16:2076488

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
TSC2-related disorder
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA2580090877

rs_45517264

3 SubmittersRCV003090094 RCV004540547 RCV004073141

NM_000548.5(TSC2):c.3828C>T (p.Ser1276=)

SNV
Germline

Chr16:2082449

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA048815

rs_773135685

3 SubmittersRCV002621047 RCV004070626

NM_000548.5(TSC2):c.3125C>A (p.Pro1042Gln)

SNV
Germline

Chr16:2079190

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394284966

rs_745731000

2 SubmittersRCV002624836 RCV004009514

NM_000548.5(TSC2):c.5069-11A>C

SNV
Germline

Chr16:2088037

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA2580091146

rs_562381623

3 SubmittersRCV002612258 RCV004009488

NM_000548.5(TSC2):c.3664G>A (p.Asp1222Asn)

SNV
Germline

Chr16:2081648

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA048016

rs_776157698

2 SubmittersRCV002647196 RCV003368028

NM_000548.5(TSC2):c.3285-13A>T

SNV
Germline

Chr16:2079544

Conflicting classifications of pathogenicity

Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA2580090957

rs_2544063648

2 SubmittersRCV002628496

NM_000548.5(TSC2):c.5207A>G (p.Tyr1736Cys)

SNV
Germline

Chr16:2088273

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394314314

rs_746160626

3 SubmittersRCV003106975 RCV003384352 RCV006546437

NM_000548.5(TSC2):c.2649G>A (p.Gln883=)

SNV
Germline

Chr16:2076077

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Tuberous sclerosis syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA492953640

rs_2151386276

3 SubmittersRCV002572351 RCV004007485 RCV003395487

NM_000548.5(TSC2):c.2266G>A (p.Gly756Ser)

SNV
Germline

Chr16:2072894

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394276541

rs_1285714005

2 SubmittersRCV002601264 RCV005505457

NM_000368.5(TSC1):c.3029A>G (p.Glu1010Gly)

SNV
Germline

Chr9:132896701

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA375367811

rs_1267230279

3 SubmittersRCV002594415 RCV004804492 RCV004686731

NM_000548.5(TSC2):c.1654G>T (p.Ala552Ser)

SNV
Germline

Chr16:2065573

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA032036

rs_777121421

2 SubmittersRCV002642551 RCV004681516

NM_000368.5(TSC1):c.1030-14T>C

SNV
Germline

Chr9:132911127

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA591361342

rs_180810228

4 SubmittersRCV002668022 RCV004007541

NM_000548.5(TSC2):c.1419G>T (p.Leu473=)

SNV
Germline

Chr16:2063029

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA492962573

rs_1365563478

3 SubmittersRCV002649909 RCV003235735 RCV004007524

NM_000548.5(TSC2):c.2967-1G>A

SNV
Germline

Chr16:2079031

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA394283423

rs_1596382055

3 SubmittersRCV002642700 RCV005515383 RCV005623485

NM_000368.5(TSC1):c.839A>G (p.Gln280Arg)

SNV
Germline

Chr9:132912356

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Tuberous sclerosis 1
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA375369295

rs_1394961527

2 SubmittersRCV002681412 RCV005050621

NM_000548.5(TSC2):c.3982A>G (p.Arg1328Gly)

SNV
Germline

Chr16:2083793

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA049833

rs_778389399

3 SubmittersRCV002690318 RCV004007548 RCV004948744

NM_000548.5(TSC2):c.1939G>T (p.Asp647Tyr)

SNV
Germline

Chr16:2071609

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA034632

rs_45509392

2 SubmittersRCV002710571 RCV005515400

NM_000368.5(TSC1):c.1510G>T (p.Asp504Tyr)

SNV
Germline

Chr9:132906068

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Condition: not provided

Criteria Provided
Conflicting Classifications

CA375365321

rs_1411711162

3 SubmittersRCV002711067 RCV003475417 RCV006275128

NM_000548.5(TSC2):c.1618T>C (p.Ser540Pro)

SNV
Germline

Chr16:2065537

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA031778

rs_765448103

2 SubmittersRCV002780216 RCV005764679

NM_000548.5(TSC2):c.818T>C (p.Ile273Thr)

SNV
Germline

Chr16:2057148

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394313223

rs_1366677287

2 SubmittersRCV002796913 RCV004007618

NM_000548.5(TSC2):c.994G>T (p.Glu332Ter)

SNV
Germline

Chr16:2060688

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394317292

rs_911600402

1 SubmittersRCV002792149

NM_000368.5(TSC1):c.151G>C (p.Glu51Gln)

SNV
Germline

Chr9:132927260

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA375375147

rs_1564503320

2 SubmittersRCV002816247 RCV005301190

NM_000548.5(TSC2):c.4663-2A>C

SNV
Germline

Chr16:2086191

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394306823

rs_2151569037

1 SubmittersRCV002806468

NM_000368.5(TSC1):c.2122A>T (p.Lys708Ter)

SNV
Germline

Chr9:132903737

Pathogenic

Tuberous sclerosis 1

Criteria Provided
Single Submitter

CA375361003

rs_1845500801

1 SubmittersRCV002870893

NM_000548.5(TSC2):c.4850-11C>T

SNV
Germline

Chr16:2086721

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA276756743

rs_548115101

2 SubmittersRCV002837717 RCV006546114

NM_000548.5(TSC2):c.1189C>T (p.Gln397Ter)

SNV
Germline

Chr16:2061940

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394320626

rs_2151155696

1 SubmittersRCV002851338

NM_000548.5(TSC2):c.4493+1G>C

SNV
Germline

Chr16:2084716

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394302637

rs_1057518230

1 SubmittersRCV002856293

NM_000368.5(TSC1):c.3471T>C (p.Asn1157=)

SNV
Germline

Chr9:132896259

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA467812850

rs_2538420158

4 SubmittersRCV002889193 RCV004999819 RCV005301194

NM_000548.5(TSC2):c.4951A>C (p.Asn1651His)

SNV
Germline

Chr16:2086833

Likely pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394308836

rs_2090865014

1 SubmittersRCV002885028

NM_000548.5(TSC2):c.1659C>G (p.Tyr553Ter)

SNV
Germline

Chr16:2065578

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394268057

rs_1358358656

1 SubmittersRCV002866578

NM_000548.5(TSC2):c.2098G>T (p.Glu700Ter)

SNV
Germline

Chr16:2072241

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394274747

rs_45496402

1 SubmittersRCV002876503

NM_000368.5(TSC1):c.2814-1G>A

SNV
Germline

Chr9:132897346

Likely pathogenic

Tuberous sclerosis 1

Criteria Provided
Single Submitter

CA375368956

rs_2538483320

1 SubmittersRCV002866025

NM_000368.5(TSC1):c.1270A>T (p.Arg424Ter)

SNV
Germline

Chr9:132907364

Pathogenic

Tuberous sclerosis 1

Criteria Provided
Single Submitter

CA375366215

rs_1845728736

1 SubmittersRCV002852090

NM_000368.5(TSC1):c.269T>C (p.Leu90Pro)

SNV
Germline

Chr9:132925681

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA375374643

rs_2132235475

2 SubmittersRCV002894820 RCV005764695

NM_000368.5(TSC1):c.2234A>G (p.Lys745Arg)

SNV
Germline

Chr9:132902762

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Tuberous sclerosis 1

Criteria Provided
Conflicting Classifications

CA375360004

rs_2131740538

3 SubmittersRCV002900084 RCV005752102 RCV004725408

NM_000548.5(TSC2):c.4596G>A (p.Gln1532=)

SNV
Germline

Chr16:2085256

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA492958020

rs_2151551059

2 SubmittersRCV002917964 RCV003308328

NM_000368.5(TSC1):c.809C>G (p.Ser270Ter)

SNV
Germline

Chr9:132912386

Pathogenic

Tuberous sclerosis 1

Criteria Provided
Single Submitter

CA375369441

rs_878853968

1 SubmittersRCV002867803

NM_000548.5(TSC2):c.549G>A (p.Leu183=)

SNV
Germline

Chr16:2055469

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA492955808

rs_1415519717

2 SubmittersRCV002900319 RCV005505520

NM_000548.5(TSC2):c.3083A>T (p.Asp1028Val)

SNV
Germline

Chr16:2079148

Likely pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394284626

rs_397515255

1 SubmittersRCV002872580

NM_000368.5(TSC1):c.1524C>G (p.Tyr508Ter)

SNV
Germline

Chr9:132906054

Pathogenic

Tuberous sclerosis 1

Criteria Provided
Single Submitter

CA375365253

rs_2131844956

1 SubmittersRCV002947912

NM_000548.5(TSC2):c.3598C>G (p.Arg1200Gly)

SNV
Germline

Chr16:2080365

Likely pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394289708

rs_45438205

1 SubmittersRCV002937284

NM_000548.5(TSC2):c.3373C>A (p.Arg1125=)

SNV
Germline

Chr16:2079645

Conflicting classifications of pathogenicity

Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA492955310

rs_747420910

2 SubmittersRCV002923313

NM_000548.5(TSC2):c.1767G>A (p.Met589Ile)

SNV
Germline

Chr16:2070506

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394272880

rs_1227923469

2 SubmittersRCV002923532 RCV003170662

NM_000548.5(TSC2):c.226-3C>T

SNV
Germline

Chr16:2053339

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA2580090609

rs_2151025824

2 SubmittersRCV002966349 RCV004007724

NM_000548.5(TSC2):c.3443A>G (p.Gln1148Arg)

SNV
Germline

Chr16:2080210

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394288705

rs_1217539900

2 SubmittersRCV002949547 RCV005752122

NM_000548.5(TSC2):c.196G>A (p.Glu66Lys)

SNV
Germline

Chr16:2050457

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA394303482

rs_45517094

2 SubmittersRCV004681570 RCV002942884

NM_000548.5(TSC2):c.4824C>G (p.Tyr1608Ter)

SNV
Germline

Chr16:2086354

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394308102

rs_1422829075

1 SubmittersRCV002971849

NM_000548.5(TSC2):c.2545A>C (p.Thr849Pro)

SNV
Germline

Chr16:2074389

Likely pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394278047

rs_781713438

1 SubmittersRCV002954248

NM_000548.5(TSC2):c.5069-10G>A

SNV
Germline

Chr16:2088038

Conflicting classifications of pathogenicity

Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA2575877205

rs_1409032179

3 SubmittersRCV003015525

NM_000368.5(TSC1):c.2851C>T (p.Gln951Ter)

SNV
Germline

Chr9:132897308

Pathogenic

Tuberous sclerosis 1

Criteria Provided
Single Submitter

CA375368870

rs_2538481248

1 SubmittersRCV002996673

NM_000368.5(TSC1):c.1439-15C>G

SNV
Germline

Chr9:132906154

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA2580079952

rs_763538221

2 SubmittersRCV003008083 RCV004007767

NM_000548.5(TSC2):c.3761C>A (p.Ser1254Ter)

SNV
Germline

Chr16:2081745

Pathogenic

Tuberous sclerosis 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA394293204

rs_1596400563

2 SubmittersRCV003031163 RCV004765623

NM_000548.5(TSC2):c.337-2A>C

SNV
Germline

Chr16:2054294

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394306360

rs_397515316

1 SubmittersRCV003038865

NM_000548.5(TSC2):c.2698T>G (p.Cys900Gly)

SNV
Germline

Chr16:2076126

Likely pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394279424

rs_1354917235

1 SubmittersRCV003032519

NM_000548.5(TSC2):c.336+1G>T

SNV
Germline

Chr16:2053453

Pathogenic/Likely pathogenic

Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA394306098

rs_45517102

2 SubmittersRCV003020042

NM_000548.5(TSC2):c.4710G>C (p.Arg1570Ser)

SNV
Germline

Chr16:2086240

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394307370

rs_1389060581

1 SubmittersRCV003019971

NM_000548.5(TSC2):c.472G>T (p.Glu158Ter)

SNV
Germline

Chr16:2054431

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394308552

rs_1596265482

1 SubmittersRCV003023508

NM_000368.5(TSC1):c.3065G>A (p.Arg1022Lys)

SNV
Germline

Chr9:132896665

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA375367632

rs_1392262248

2 SubmittersRCV003045507 RCV005288880

NM_000548.5(TSC2):c.1443+2T>C

SNV
Germline

Chr16:2063055

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394324188

rs_397515064

1 SubmittersRCV003026791

NM_000548.5(TSC2):c.2350A>G (p.Lys784Glu)

SNV
Germline

Chr16:2072978

Conflicting classifications of pathogenicity

Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA038516

rs_751172150

2 SubmittersRCV003042471

NM_000548.5(TSC2):c.3398-1G>C

SNV
Germline

Chr16:2080164

Likely pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394288323

rs_45517293

1 SubmittersRCV003042599

NM_000548.5(TSC2):c.1467C>G (p.Val489=)

SNV
Germline

Chr16:2064295

Conflicting classifications of pathogenicity

Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA492962864

rs_2151188723

2 SubmittersRCV003047762

NM_000368.5(TSC1):c.2240T>C (p.Ile747Thr)

SNV
Germline

Chr9:132902756

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis

Criteria Provided
Conflicting Classifications

CA375359967

rs_1392095786

4 SubmittersRCV003030450 RCV004681606 RCV004804539 RCV005045172

NM_000548.5(TSC2):c.1443+1G>A

SNV
Germline

Chr16:2063054

Pathogenic

Tuberous sclerosis 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA394324178

rs_397515257

2 SubmittersRCV003043293 RCV005626730

NM_000368.5(TSC1):c.2502+1G>T

SNV
Germline

Chr9:132901588

Conflicting classifications of pathogenicity

Tuberous sclerosis 1

Criteria Provided
Conflicting Classifications

CA375358236

rs_2131702478

2 SubmittersRCV003047193

NM_000548.5(TSC2):c.4784G>A (p.Gly1595Glu)

SNV
Germline

Chr16:2086314

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394307959

rs_2090782357

2 SubmittersRCV003039214 RCV003170912

NM_000548.5(TSC2):c.599+2T>A

SNV
Germline

Chr16:2055521

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394309957

rs_45484992

1 SubmittersRCV003052295

NM_000368.5(TSC1):c.1607T>A (p.Leu536Ter)

SNV
Germline

Chr9:132905971

Pathogenic

Tuberous sclerosis 1

Criteria Provided
Single Submitter

CA375364753

rs_776633158

1 SubmittersRCV003044937

NM_000548.5(TSC2):c.1600-1G>C

SNV
Germline

Chr16:2065518

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394267519

rs_45517184

1 SubmittersRCV003044607

NM_000548.5(TSC2):c.437T>C (p.Leu146Pro)

SNV
Germline

Chr16:2054396

Conflicting classifications of pathogenicity

Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA394308339

rs_397514996

2 SubmittersRCV003056289

NM_022370.4(ROBO3):c.3911C>T (p.Ala1304Val)

SNV
Germline

Chr11:124879901

Conflicting classifications of pathogenicity

Inborn genetic diseases
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA6344318

rs_772718098

2 SubmittersRCV002719693 RCV005626769

NM_000548.5(TSC2):c.109G>T (p.Glu37Ter)

SNV
Germline

Chr16:2048724

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394301559

rs_2150972985

1 SubmittersRCV003128282

NM_000548.5(TSC2):c.3127A>T (p.Lys1043Ter)

SNV
Germline

Chr16:2079192

Likely pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394284988

rs_2151435107

1 SubmittersRCV003132983

NM_000548.5(TSC2):c.2597C>T (p.Ala866Val)

SNV
Germline

Chr16:2075850

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394278406

rs_1261601321

3 SubmittersRCV003142885 RCV004246082

NM_000548.5(TSC2):c.1659C>A (p.Tyr553Ter)

SNV
Unknown

Chr16:2065578

Likely pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394268056

rs_1358358656

1 SubmittersRCV003153223

NM_000368.5(TSC1):c.2977C>A (p.Leu993Ile)

SNV
Germline

Chr9:132896753

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA375368095

rs_1177810382

3 SubmittersRCV004009623 RCV003154683

NM_000368.5(TSC1):c.3427C>G (p.Pro1143Ala)

SNV
Germline

Chr9:132896303

Conflicting classifications of pathogenicity

Ovarian cancer
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1

Criteria Provided
Conflicting Classifications

CA036962

rs_574823234

3 SubmittersRCV003154826 RCV006292349 RCV006473749

NM_000368.5(TSC1):c.2174A>G (p.Lys725Arg)

SNV
Germline

Chr9:132903685

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1

Criteria Provided
Conflicting Classifications

CA375360758

rs_1368576380

2 SubmittersRCV003176673 RCV003505304

NM_000368.5(TSC1):c.2172C>T (p.Ile724=)

SNV
Germline

Chr9:132903687

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1

Criteria Provided
Conflicting Classifications

CA467590674

rs_1845495899

2 SubmittersRCV003168075 RCV005100997

NM_000548.5(TSC2):c.4573C>A (p.Gln1525Lys)

SNV
Germline

Chr16:2085233

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA051854

rs_45517352

3 SubmittersRCV003171902 RCV005101057 RCV006546488

NM_000548.5(TSC2):c.1074G>C (p.Trp358Cys)

SNV
Germline

Chr16:2060768

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA394317996

rs_1229561585

2 SubmittersRCV003213895 RCV003626829

NM_000548.5(TSC2):c.3393G>A (p.Met1131Ile)

SNV
Germline

Chr16:2079665

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA394286812

rs_1297504532

2 SubmittersRCV003213896 RCV006561232

NM_000548.5(TSC2):c.4582G>T (p.Glu1528Ter)

SNV
Germline

Chr16:2085242

Pathogenic

Lymphangiomyomatosis
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II

Criteria Provided
Single Submitter

CA394304416

rs_2090622255

1 SubmittersRCV003224752

NM_000548.5(TSC2):c.2126T>G (p.Val709Gly)

SNV
Germline

Chr16:2072269

Likely pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394274803

rs_1326276839

1 SubmittersRCV003233058

NM_000548.5(TSC2):c.4223G>A (p.Gly1408Asp)

SNV
Germline

Chr16:2084445

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394300149

rs_202068995

1 SubmittersRCV003234985

NM_000548.5(TSC2):c.2878T>C (p.Ser960Pro)

SNV
Germline

Chr16:2077638

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA394280996

rs_1005027685

2 SubmittersRCV003297050 RCV006612990

NM_000548.5(TSC2):c.4754A>G (p.Lys1585Arg)

SNV
Germline

Chr16:2086284

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA052417

rs_780758839

3 SubmittersRCV003297059 RCV003626841 RCV004009708

NM_000548.5(TSC2):c.2893G>T (p.Glu965Ter)

SNV
Germline

Chr16:2077653

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA394281095

rs_1372107115

2 SubmittersRCV003297060 RCV004796796

NM_000548.5(TSC2):c.81T>A (p.Asn27Lys)

SNV
Germline

Chr16:2048696

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA394301307

rs_2548350127

2 SubmittersRCV003297083 RCV004009710

NM_000548.5(TSC2):c.4662+1G>T

SNV
Germline

Chr16:2085323

Pathogenic

Condition: not provided
Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394305130

rs_45514095

2 SubmittersRCV003329612 RCV003333812

NM_000548.5(TSC2):c.4450G>A (p.Ala1484Thr)

SNV
Germline

Chr16:2084672

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA051205

rs_748698490

3 SubmittersRCV003360997 RCV003459850 RCV003626855

NM_000368.5(TSC1):c.455T>C (p.Leu152Pro)

SNV
Germline

Chr9:132923401

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA037542

rs_755791846

3 SubmittersRCV003345615 RCV006472498 RCV006548532

NM_000368.5(TSC1):c.2138C>G (p.Ala713Gly)

SNV
Germline

Chr9:132903721

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1

Criteria Provided
Conflicting Classifications

CA375360931

rs_1286421874

2 SubmittersRCV003379552 RCV003614230

NM_000368.5(TSC1):c.508G>A (p.Gly170Ser)

SNV
Germline

Chr9:132923348

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis 1

Criteria Provided
Conflicting Classifications

CA375373097

rs_2132185994

4 SubmittersRCV003379956 RCV004780540 RCV005104221

NM_000548.5(TSC2):c.2919G>T (p.Glu973Asp)

SNV
Germline

Chr16:2077679

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA394281314

rs_2543976914

2 SubmittersRCV003385873 RCV005061352

NM_000548.5(TSC2):c.4863C>A (p.Ile1621=)

SNV
Germline

Chr16:2086745

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA492959708

rs_142085017

2 SubmittersRCV003382386 RCV003512217

NM_000368.5(TSC1):c.737G>T (p.Arg246Met)

SNV
Germline

Chr9:132921363

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Tuberous sclerosis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA375371190

rs_118203436

3 SubmittersRCV003388933 RCV005104282 RCV005414692

NM_000548.5(TSC2):c.2166C>A (p.Leu722=)

SNV
Germline

Chr16:2072309

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA493042691

rs_1009050362

4 SubmittersRCV003395227 RCV003626865 RCV004364533

NM_000368.5(TSC1):c.1229C>A (p.Ser410Ter)

SNV
Unknown

Chr9:132910605

Likely pathogenic

Tuberous sclerosis 1

Criteria Provided
Single Submitter

CA375366848

rs_1564487289

1 SubmittersRCV003448548

NM_000548.5(TSC2):c.4366C>G (p.Leu1456Val)

SNV
Germline

Chr16:2084588

Conflicting classifications of pathogenicity

Isolated focal cortical dysplasia type II
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA394301736

rs_1199848222

2 SubmittersRCV003464713 RCV003779132

NM_000548.5(TSC2):c.5391C>G (p.Ile1797Met)

SNV
Germline

Chr16:2088577

Conflicting classifications of pathogenicity

Isolated focal cortical dysplasia type II
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA055292

rs_571792728

3 SubmittersRCV003464714 RCV004949101 RCV005100237

NM_000368.5(TSC1):c.7C>T (p.Gln3Ter)

SNV
Unknown

Chr9:132928866

Pathogenic

Tuberous sclerosis 1

Criteria Provided
Single Submitter

CA375375463

rs_2539147032

1 SubmittersRCV003450557

NM_000548.5(TSC2):c.4569+2T>C

SNV
Germline

Chr16:2085028

Pathogenic/Likely pathogenic

Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA394303140

rs_1555514984

2 SubmittersRCV003452623

NM_000548.5(TSC2):c.1728C>G (p.Tyr576Ter)

SNV
Germline

Chr16:2070467

Pathogenic/Likely pathogenic

Condition: not provided
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA394272684

rs_966102111

2 SubmittersRCV003481860 RCV006473288

NM_000548.5(TSC2):c.1744C>T (p.His582Tyr)

SNV
Germline

Chr16:2070483

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394272762

rs_1385373190

2 SubmittersRCV003512375 RCV005764845

NM_000368.5(TSC1):c.913+2T>G

SNV
Germline

Chr9:132912280

Pathogenic

Tuberous sclerosis 1

Criteria Provided
Single Submitter

CA375368962

rs_2538885807

1 SubmittersRCV003505784

NM_000548.5(TSC2):c.4804G>T (p.Glu1602Ter)

SNV
Germline

Chr16:2086334

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394308058

rs_2151575081

1 SubmittersRCV003512363

NM_000368.5(TSC1):c.2722C>A (p.Arg908=)

SNV
Germline

Chr9:132897514

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA467812828

rs_748845915

3 SubmittersRCV003505502 RCV004011350

NM_000548.5(TSC2):c.849-2A>C

SNV
Germline

Chr16:2058745

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394314862

rs_45517134

1 SubmittersRCV003512817

NM_000548.5(TSC2):c.2765T>A (p.Leu922Ter)

SNV
Germline

Chr16:2076513

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394279867

rs_2543929566

1 SubmittersRCV003512340

NM_000368.5(TSC1):c.488C>G (p.Ser163Ter)

SNV
Germline

Chr9:132923368

Pathogenic

Tuberous sclerosis 1

Criteria Provided
Single Submitter

CA375373188

rs_1846671274

1 SubmittersRCV003505517

NM_000548.5(TSC2):c.1375G>A (p.Gly459Ser)

SNV
Germline

Chr16:2062985

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394323652

rs_1567432890

2 SubmittersRCV003512397 RCV005505682

NM_000548.5(TSC2):c.774+3G>A

SNV
Germline

Chr16:2056772

Conflicting classifications of pathogenicity

Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA2590038708

rs_2151081990

2 SubmittersRCV003513098

NM_000368.5(TSC1):c.211-8A>T

SNV
Germline

Chr9:132925747

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2697558144

rs_753082880

3 SubmittersRCV003505915 RCV006259479

NM_000548.5(TSC2):c.3815-15G>T

SNV
Germline

Chr16:2082421

Conflicting classifications of pathogenicity

Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA656221071

rs_45480591

2 SubmittersRCV003513130

NM_000548.5(TSC2):c.4616C>A (p.Ser1539Ter)

SNV
Germline

Chr16:2085276

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394304747

rs_2151551960

1 SubmittersRCV003513375

NM_000548.5(TSC2):c.4783G>C (p.Gly1595Arg)

SNV
Germline

Chr16:2086313

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394307955

rs_45517369

1 SubmittersRCV003513445

NM_000548.5(TSC2):c.1037T>A (p.Ile346Asn)

SNV
Germline

Chr16:2060731

Likely pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394317694

rs_2151136498

1 SubmittersRCV003513552

NM_000548.5(TSC2):c.1362-1G>A

SNV
Germline

Chr16:2062971

Pathogenic

Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA394323540

rs_2151170644

2 SubmittersRCV003513633 RCV006444118

NM_000548.5(TSC2):c.2726T>A (p.Val909Asp)

SNV
Germline

Chr16:2076154

Likely pathogenic

Tuberous sclerosis 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA394279555

rs_2151388871

2 SubmittersRCV003513636 RCV005603836

NM_000548.5(TSC2):c.4149C>T (p.Ser1383=)

SNV
Germline

Chr16:2084371

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA493043109

rs_2151524944

1 SubmittersRCV003513637

NM_000548.5(TSC2):c.1599+2T>G

SNV
Germline

Chr16:2064429

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394326824

rs_45517183

1 SubmittersRCV003511489

NM_000368.5(TSC1):c.2503-1G>A

SNV
Germline

Chr9:132900838

Pathogenic

Tuberous sclerosis 1

Criteria Provided
Single Submitter

CA375370378

rs_118203705

1 SubmittersRCV003506562

NM_000368.5(TSC1):c.211-2A>G

SNV
Germline

Chr9:132925741

Pathogenic

Tuberous sclerosis 1

Criteria Provided
Single Submitter

CA375374901

rs_118203352

1 SubmittersRCV003506563

NM_000548.5(TSC2):c.1803C>G (p.Ser601Arg)

SNV
Germline

Chr16:2070542

Likely pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394272954

rs_1044401463

1 SubmittersRCV003511548

NM_000548.5(TSC2):c.1258-4A>T

SNV
Germline

Chr16:2062493

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA2697549629

rs_2086763634

2 SubmittersRCV003511603 RCV004676231

NM_000548.5(TSC2):c.4662+2T>C

SNV
Germline

Chr16:2085324

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394305138

rs_2151554076

1 SubmittersRCV003511640

NM_000548.5(TSC2):c.5156C>A (p.Ala1719Glu)

SNV
Germline

Chr16:2088135

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
not specified

Criteria Provided
Conflicting Classifications

CA394312666

rs_2091100543

3 SubmittersRCV003513793 RCV005419659

NM_000548.5(TSC2):c.3086T>G (p.Met1029Arg)

SNV
Germline

Chr16:2079151

Likely pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394284643

rs_1057522974

1 SubmittersRCV003511820

NM_000368.5(TSC1):c.745A>C (p.Arg249=)

SNV
Germline

Chr9:132912450

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA467593618

rs_118203443

2 SubmittersRCV003504774 RCV004780587

NM_000368.5(TSC1):c.663+2T>C

SNV
Germline

Chr9:132921817

Likely pathogenic

Tuberous sclerosis 1

Criteria Provided
Single Submitter

CA375371597

rs_2132148804

1 SubmittersRCV003504759

NM_000548.5(TSC2):c.1443G>T (p.Glu481Asp)

SNV
Germline

Chr16:2063053

Likely pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394324174

rs_137854876

1 SubmittersRCV003512464

NM_000548.5(TSC2):c.3616A>C (p.Thr1206Pro)

SNV
Germline

Chr16:2081600

Likely pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394291424

rs_1348376140

1 SubmittersRCV003512652

NM_000368.5(TSC1):c.2578G>T (p.Glu860Ter)

SNV
Germline

Chr9:132900762

Pathogenic

Tuberous sclerosis 1

Criteria Provided
Single Submitter

CA375370025

rs_1169898186

1 SubmittersRCV003504954

NM_000368.5(TSC1):c.1690G>T (p.Glu564Ter)

SNV
Germline

Chr9:132905888

Pathogenic

Tuberous sclerosis 1

Criteria Provided
Single Submitter

CA375364193

rs_2131832036

1 SubmittersRCV003505033

NM_000548.5(TSC2):c.2355+19A>T

SNV
Germline

Chr16:2073002

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA276740102

rs_535037838

2 SubmittersRCV003512560 RCV005014806

NM_000368.5(TSC1):c.1648C>T (p.Gln550Ter)

SNV
Germline

Chr9:132905930

Pathogenic

Tuberous sclerosis 1

Criteria Provided
Single Submitter

CA375364470

rs_118203553

1 SubmittersRCV003505562

NM_000548.5(TSC2):c.2545+1G>A

SNV
Germline

Chr16:2074390

Pathogenic

Tuberous sclerosis 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA394278052

rs_2151356819

2 SubmittersRCV003626932 RCV005414702

NM_000548.5(TSC2):c.2409G>A (p.Gln803=)

SNV
Germline

Chr16:2074253

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA492953054

rs_1400548727

2 SubmittersRCV003627597 RCV005289007

NM_000368.5(TSC1):c.1160C>T (p.Pro387Leu)

SNV
Germline

Chr9:132910674

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA027193

rs_764150061

2 SubmittersRCV003614470 RCV005289008

NM_000548.5(TSC2):c.4348C>T (p.Pro1450Ser)

SNV
Germline

Chr16:2084570

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA050914

rs_376381196

2 SubmittersRCV003627638 RCV005505707

NM_000548.5(TSC2):c.1120-7A>G

SNV
Germline

Chr16:2061864

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2202009547

rs_1459785336

4 SubmittersRCV006548687 RCV003627797 RCV006259499

NM_000548.5(TSC2):c.2967-7C>T

SNV
Germline

Chr16:2079025

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2631117449

rs_2544023060

3 SubmittersRCV003627823 RCV006264103

NM_000548.5(TSC2):c.1932C>A (p.Cys644Ter)

SNV
Germline

Chr16:2071602

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394273334

rs_777665839

1 SubmittersRCV003627897

NM_000548.5(TSC2):c.1756G>A (p.Val586Met)

SNV
Germline

Chr16:2070495

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA033393

rs_779425782

2 SubmittersRCV003627950 RCV005289017

NM_000368.5(TSC1):c.364-1G>A

SNV
Germline

Chr9:132923493

Pathogenic

Tuberous sclerosis 1

Criteria Provided
Single Submitter

CA375373786

rs_118203376

1 SubmittersRCV003613830

NM_000368.5(TSC1):c.144T>G (p.Tyr48Ter)

SNV
Germline

Chr9:132927267

Pathogenic

Tuberous sclerosis 1

Criteria Provided
Single Submitter

CA375375161

rs_2132269028

1 SubmittersRCV003613744

NM_000368.5(TSC1):c.3329C>T (p.Thr1110Ile)

SNV
Germline

Chr9:132896401

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA375366603

rs_952996030

2 SubmittersRCV003613748 RCV005505714

NM_000368.5(TSC1):c.2391+1G>T

SNV
Germline

Chr9:132902604

Likely pathogenic

Tuberous sclerosis 1

Criteria Provided
Single Submitter

CA375358970

rs_1060503224

1 SubmittersRCV003613875

NM_000548.5(TSC2):c.3610+2T>C

SNV
Germline

Chr16:2080379

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394289767

rs_2151462990

1 SubmittersRCV003628034

NM_000368.5(TSC1):c.210+1G>T

SNV
Germline

Chr9:132927200

Pathogenic

Tuberous sclerosis 1

Criteria Provided
Single Submitter

CA375375015

rs_118203348

1 SubmittersRCV003613859

NM_000548.5(TSC2):c.5141A>G (p.Gln1714Arg)

SNV
Germline

Chr16:2088120

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA394312541

rs_2151622840

2 SubmittersRCV003628296 RCV003735281

NM_000368.5(TSC1):c.913+2T>A

SNV
Germline

Chr9:132912280

Pathogenic

Tuberous sclerosis 1

Criteria Provided
Single Submitter

CA375368960

rs_2538885807

1 SubmittersRCV003614017

NM_000548.5(TSC2):c.2743-11C>A

SNV
Germline

Chr16:2076480

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA973767011

rs_137854426

2 SubmittersRCV003628412 RCV005014856

NM_000548.5(TSC2):c.336G>A (p.Gln112=)

SNV
Germline

Chr16:2053452

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA492955284

rs_2151029157

1 SubmittersRCV003628224

NM_000548.5(TSC2):c.3307A>T (p.Arg1103Ter)

SNV
Germline

Chr16:2079579

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394286541

rs_2544066099

1 SubmittersRCV003628265

NM_000548.5(TSC2):c.1523C>A (p.Ala508Asp)

SNV
Germline

Chr16:2064351

Likely pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394326238

rs_1336558090

1 SubmittersRCV003628286

NM_000368.5(TSC1):c.673G>T (p.Glu225Ter)

SNV
Germline

Chr9:132921427

Pathogenic

Tuberous sclerosis 1

Criteria Provided
Single Submitter

CA375371498

rs_572899352

1 SubmittersRCV003614026

NM_000548.5(TSC2):c.690C>A (p.Cys230Ter)

SNV
Germline

Chr16:2056685

Pathogenic

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA394312588

rs_2151078845

2 SubmittersRCV003628303 RCV004950555

NM_000548.5(TSC2):c.1213G>T (p.Glu405Ter)

SNV
Germline

Chr16:2061964

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394321034

rs_765622787

1 SubmittersRCV003628334

NM_000548.5(TSC2):c.2960T>C (p.Val987Ala)

SNV
Germline

Chr16:2077720

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394281585

rs_1391148381

2 SubmittersRCV003628474 RCV004371799

NM_000548.5(TSC2):c.3610+419C>G

SNV
Germline

Chr16:2080796

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA718913465

rs_1195418667

1 SubmittersRCV003628437

NM_000548.5(TSC2):c.2292G>C (p.Leu764=)

SNV
Germline

Chr16:2072920

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA492952632

rs_2543765925

3 SubmittersRCV003628574 RCV005014867 RCV005301341

NM_000548.5(TSC2):c.728T>C (p.Leu243Pro)

SNV
Germline

Chr16:2056723

Likely pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394312739

rs_2151080318

1 SubmittersRCV003628481

NM_000368.5(TSC1):c.3018G>A (p.Gly1006=)

SNV
Germline

Chr9:132896712

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

CA200925806

rs_910475358

2 SubmittersRCV003614734 RCV004011717

NM_000548.5(TSC2):c.1340C>A (p.Ala447Glu)

SNV
Germline

Chr16:2062579

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Lymphangiomyomatosis
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II

Criteria Provided
Conflicting Classifications

CA394322559

rs_45486591

2 SubmittersRCV003626174 RCV005014871

NM_000548.5(TSC2):c.3975C>T (p.Gly1325=)

SNV
Germline

Chr16:2083786

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA492956753

rs_2151513295

2 SubmittersRCV003626201 RCV004950579

NM_000368.5(TSC1):c.658G>A (p.Val220Ile)

SNV
Germline

Chr9:132921824

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA038378

rs_397514830

2 SubmittersRCV003615041 RCV005764885

NM_000548.5(TSC2):c.2735T>C (p.Ile912Thr)

SNV
Germline

Chr16:2076163

Likely pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394279601

rs_2151389141

1 SubmittersRCV003627415

NM_000548.5(TSC2):c.1257+9C>G

SNV
Germline

Chr16:2062017

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2631117667

rs_1166139497

3 SubmittersRCV003627544 RCV006259522

NM_000368.5(TSC1):c.1119C>G (p.Tyr373Ter)

SNV
Germline

Chr9:132911024

Pathogenic

Tuberous sclerosis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA375367389

rs_2131957828

2 SubmittersRCV003615393

NM_000548.5(TSC2):c.4703C>T (p.Ser1568Phe)

SNV
Germline

Chr16:2086233

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394307315

rs_1555516036

2 SubmittersRCV003837890 RCV006292483

NM_000548.5(TSC2):c.599+9A>G

SNV
Germline

Chr16:2055528

Conflicting classifications of pathogenicity

Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA2631113465

rs_2548437341

2 SubmittersRCV003845920

NM_000548.5(TSC2):c.3517A>G (p.Thr1173Ala)

SNV
Germline

Chr16:2080284

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Lymphangiomyomatosis

Criteria Provided
Conflicting Classifications

CA047264

rs_766827673

2 SubmittersRCV003842933 RCV005392715

NM_000368.5(TSC1):c.2831C>T (p.Ala944Val)

SNV
Germline

Chr9:132897328

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Tuberous sclerosis syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA375368915

rs_2131628148

4 SubmittersRCV003879817 RCV004006174 RCV005871353 RCV005507772

NM_000548.5(TSC2):c.1221C>G (p.Tyr407Ter)

SNV
Germline

Chr16:2061972

Likely pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

CA394321135

rs_397514897

1 SubmittersRCV003990344

NM_000548.5(TSC2):c.982G>A (p.Ala328Thr)

SNV
Germline

Chr16:2060676

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394317135

rs_45517152

2 SubmittersRCV004006281 RCV005301426

NM_000548.5(TSC2):c.*5G>T

SNV
Germline

Chr16:2088615

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA620705139

rs_201342697

2 SubmittersRCV004013206 RCV005621285

NM_000548.5(TSC2):c.*6G>C

SNV
Germline

Chr16:2088616

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA718906077

rs_397515008

2 SubmittersRCV004012362 RCV005621288

NM_000368.5(TSC1):c.3018G>T (p.Gly1006=)

SNV
Germline

Chr9:132896712

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Tuberous sclerosis 1

Criteria Provided
Conflicting Classifications

CA467813076

rs_910475358

2 SubmittersRCV004012628 RCV005621290

NM_000548.5(TSC2):c.2640-13C>A

SNV
Germline

Chr16:2076055

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA2731570782

rs_201184637

2 SubmittersRCV004010169 RCV005103224

NM_000548.5(TSC2):c.3074C>G (p.Thr1025Ser)

SNV
Germline

Chr16:2079139

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394284557

rs_1371092393

3 SubmittersRCV004010215 RCV005064960 RCV005507780

NM_000368.5(TSC1):c.415A>G (p.Met139Val)

SNV
Germline

Chr9:132923441

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Tuberous sclerosis 1

Criteria Provided
Conflicting Classifications

CA037494

rs_780442112

2 SubmittersRCV004015432 RCV005103349

NM_000368.5(TSC1):c.1997+2T>C

SNV
Germline

Chr9:132905579

Likely pathogenic

Tuberous sclerosis 1
Tuberous sclerosis syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA375362200

rs_2131806725

2 SubmittersRCV004372001 RCV004018082

NM_000368.5(TSC1):c.2626-2A>T

SNV
Germline

Chr9:132897612

Pathogenic

Tuberous sclerosis syndrome
Cholangiocarcinoma
Uterine corpus endometrial carcinoma
Familial cancer of breast

Criteria Provided
Single Submitter

CA375369736

rs_118203717

2 SubmittersRCV004018339 RCV005937414 RCV005937415 RCV005937413

NM_000368.5(TSC1):c.1264-1G>C

SNV
Germline

Chr9:132907371

Pathogenic

Tuberous sclerosis syndrome

Criteria Provided
Single Submitter

CA375366234

rs_1554816432

1 SubmittersRCV004018374

NM_000368.5(TSC1):c.2665G>T (p.Glu889Ter)

SNV
Germline

Chr9:132897571

Likely pathogenic

Tuberous sclerosis syndrome

Criteria Provided
Single Submitter

CA375369577

rs_775589156

1 SubmittersRCV004018379

NM_000368.5(TSC1):c.2519C>A (p.Ser840Ter)

SNV
Germline

Chr9:132900821

Pathogenic

Tuberous sclerosis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA375370298

rs_1564475110

2 SubmittersRCV004442552

NM_000368.5(TSC1):c.2392-1G>T

SNV
Unknown

Chr9:132901700

Likely pathogenic

Tuberous sclerosis 1
Malignant tumor of urinary bladder

Criteria Provided
Single Submitter

CA375358841

rs_397514822

2 SubmittersRCV004442600 RCV005939150

NM_000368.5(TSC1):c.2392-2A>G

SNV
Unknown

Chr9:132901701

Likely pathogenic

Tuberous sclerosis 1

Criteria Provided
Single Submitter

CA375358849

rs_2131710621

1 SubmittersRCV004442608

NM_000548.5(TSC2):c.648+1G>C

SNV
Germline

Chr16:2056245

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA394311107

rs_45488893

2 SubmittersRCV004515781

NM_000548.5(TSC2):c.1559A>C (p.His520Pro)

SNV
Germline

Chr16:2064387

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA394326506

rs_1220672669

2 SubmittersRCV004518796 RCV006613337

NM_000548.5(TSC2):c.2302C>T (p.Pro768Ser)

SNV
Germline

Chr16:2072930

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA394276608

rs_1422055326

2 SubmittersRCV004520796 RCV005100748

NM_000368.5(TSC1):c.2013C>T (p.Ser671=)

SNV
Germline

Chr9:132904439

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1

Criteria Provided
Conflicting Classifications

CA467590816

rs_1845545985

2 SubmittersRCV004525359 RCV005100731

NM_000548.5(TSC2):c.3765G>T (p.Val1255=)

SNV
Germline

Chr16:2081749

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA493043231

rs_2151483991

2 SubmittersRCV004520837 RCV005015175

NM_000548.5(TSC2):c.3928G>T (p.Val1310Leu)

SNV
Germline

Chr16:2083739

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA394297228

rs_1046522975

2 SubmittersRCV004520840 RCV005100751

NM_000548.5(TSC2):c.5194C>T (p.Pro1732Ser)

SNV
Germline

Chr16:2088260

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA054379

rs_759007975

2 SubmittersRCV004520869 RCV006488881

NM_000548.5(TSC2):c.51T>G (p.Ile17Met)

SNV
Germline

Chr16:2048666

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA394301052

rs_2150971085

2 SubmittersRCV004520870 RCV006564925

NM_000548.5(TSC2):c.588A>T (p.Ala196=)

SNV
Germline

Chr16:2055508

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA492955904

rs_941407136

2 SubmittersRCV004520881 RCV005621298

NM_000548.5(TSC2):c.225+2T>G

SNV
Germline

Chr16:2050488

Pathogenic

Tuberous sclerosis syndrome

Criteria Provided
Single Submitter

CA394303686

rs_397515105

1 SubmittersRCV004556116

NM_000368.5(TSC1):c.244A>T (p.Lys82Ter)

SNV
Germline

Chr9:132925706

Pathogenic

Tuberous sclerosis syndrome

Criteria Provided
Single Submitter

CA375374740

rs_2132237228

1 SubmittersRCV004556160

NM_000548.5(TSC2):c.1856T>A (p.Leu619Ter)

SNV
Germline

Chr16:2071526

Pathogenic

Tuberous sclerosis syndrome

Criteria Provided
Single Submitter

CA394273061

rs_2543673284

1 SubmittersRCV004556163

NM_000368.5(TSC1):c.680T>C (p.Val227Ala)

SNV
Germline

Chr9:132921420

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004680257 RCV005103500

NM_000548.5(TSC2):c.1460C>G (p.Ser487Ter)

SNV
Germline

Chr16:2064288

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

1 SubmittersRCV004764717

NM_000548.5(TSC2):c.5240T>A (p.Ile1747Asn)

SNV
Germline

Chr16:2088306

Pathogenic/Likely pathogenic

Condition: not provided
Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004779879 RCV005105010

NM_000368.5(TSC1):c.1861A>C (p.Ile621Leu)

SNV
Germline

Chr9:132905717

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004791806 RCV005764970

NM_000368.5(TSC1):c.741G>A (p.Trp247Ter)

SNV
Germline

Chr9:132912454

Pathogenic

Lymphangiomyomatosis
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II

Criteria Provided
Single Submitter

1 SubmittersRCV004795499

NM_000548.5(TSC2):c.4849+1G>C

SNV
Germline

Chr16:2086380

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

1 SubmittersRCV004795504

NM_000548.5(TSC2):c.599+1G>C

SNV
Germline

Chr16:2055520

Pathogenic/Likely pathogenic

Tuberous sclerosis 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004821450 RCV005861382

NM_000368.5(TSC1):c.1364C>T (p.Thr455Ile)

SNV
Germline

Chr9:132906805

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

3 SubmittersRCV004949452 RCV006484205 RCV006551321

NM_000368.5(TSC1):c.1717C>A (p.Gln573Lys)

SNV
Germline

Chr9:132905861

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004949496 RCV006484206

NM_000548.5(TSC2):c.547T>C (p.Leu183=)

SNV
Germline

Chr16:2055467

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004949543 RCV005109973

NM_000548.5(TSC2):c.2953C>T (p.His985Tyr)

SNV
Germline

Chr16:2077713

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

3 SubmittersRCV004949559 RCV005061624 RCV006551323

NM_000548.5(TSC2):c.2664G>C (p.Leu888=)

SNV
Germline

Chr16:2076092

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004949561 RCV005109975

NM_000548.5(TSC2):c.365T>G (p.Leu122Arg)

SNV
Germline

Chr16:2054324

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004950891 RCV005109980

NM_000548.5(TSC2):c.672C>A (p.Ala224=)

SNV
Germline

Chr16:2056667

Conflicting classifications of pathogenicity

Lymphangiomyomatosis
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005019827 RCV005621325

NM_000548.5(TSC2):c.1599+4A>T

SNV
Germline

Chr16:2064431

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005019833 RCV005112609

NM_000548.5(TSC2):c.1832G>C (p.Arg611Pro)

SNV
Germline

Chr16:2070571

Pathogenic

Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II

Criteria Provided
Single Submitter

1 SubmittersRCV005019834

NM_000548.5(TSC2):c.3821C>G (p.Ser1274Cys)

SNV
Germline

Chr16:2082442

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005019846 RCV005112612

NM_000548.5(TSC2):c.3611-1G>A

SNV
Germline

Chr16:2081594

Likely pathogenic

Tuberous sclerosis syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005001502

NM_000548.5(TSC2):c.600-145C>T

SNV
Germline

Chr16:2056051

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

3 SubmittersRCV005054605 RCV005105397 RCV005358196

NM_000548.5(TSC2):c.1361G>A (p.Arg454Lys)

SNV
Germline

Chr16:2062600

Likely pathogenic

Tuberous sclerosis 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005071877 RCV006455959

NM_000548.5(TSC2):c.2223T>G (p.Leu741=)

SNV
Germline

Chr16:2072851

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005121086 RCV005303490

NM_000548.5(TSC2):c.2625C>A (p.Tyr875Ter)

SNV
Germline

Chr16:2075878

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

1 SubmittersRCV005118790

NM_000548.5(TSC2):c.4654G>A (p.Glu1552Lys)

SNV
Germline

Chr16:2085314

Conflicting classifications of pathogenicity

Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005112362 RCV005515705

NM_000548.5(TSC2):c.4692T>G (p.Asn1564Lys)

SNV
Germline

Chr16:2086222

Likely pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

1 SubmittersRCV005112366

NM_000548.5(TSC2):c.975+1G>C

SNV
Germline

Chr16:2058874

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

1 SubmittersRCV005130309

NM_000368.5(TSC1):c.2586T>A (p.Tyr862Ter)

SNV
Germline

Chr9:132900754

Pathogenic

Tuberous sclerosis 1

Criteria Provided
Single Submitter

1 SubmittersRCV005131101

NM_000548.5(TSC2):c.5035G>T (p.Glu1679Ter)

SNV
Germline

Chr16:2087908

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

1 SubmittersRCV005130168

NM_000548.5(TSC2):c.4493+2T>C

SNV
Germline

Chr16:2084717

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005126973

NM_000548.5(TSC2):c.1242T>A (p.Cys414Ter)

SNV
Germline

Chr16:2061993

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

1 SubmittersRCV005151292

NM_000368.5(TSC1):c.1525C>A (p.Arg509=)

SNV
Germline

Chr9:132906053

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005175521 RCV005291197

NM_000548.5(TSC2):c.4007C>A (p.Ser1336Ter)

SNV
Germline

Chr16:2084229

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

1 SubmittersRCV005165247

NM_000548.5(TSC2):c.5160+4A>T

SNV
Germline

Chr16:2088143

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

1 SubmittersRCV005179306

NM_000368.5(TSC1):c.1998-2A>T

SNV
Germline

Chr9:132904456

Pathogenic

Tuberous sclerosis 1

Criteria Provided
Single Submitter

1 SubmittersRCV005200786

NM_000548.5(TSC2):c.600-3C>G

SNV
Germline

Chr16:2056193

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

1 SubmittersRCV005195782

NM_000548.5(TSC2):c.2355+1G>T

SNV
Germline

Chr16:2072984

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

1 SubmittersRCV005195791

NM_000548.5(TSC2):c.3239T>G (p.Leu1080Ter)

SNV
Germline

Chr16:2079383

Likely pathogenic

Tuberous sclerosis 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005253446 RCV006259657

NM_000548.5(TSC2):c.3393G>C (p.Met1131Ile)

SNV
Germline

Chr16:2079665

Likely pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

1 SubmittersRCV005255839

NM_000548.5(TSC2):c.226-3C>G

SNV
Germline

Chr16:2053339

Likely pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

1 SubmittersRCV005255841

NM_000368.5(TSC1):c.388A>C (p.Thr130Pro)

SNV
Germline

Chr9:132923468

Pathogenic

Tuberous sclerosis 1

Criteria Provided
Single Submitter

1 SubmittersRCV005255990

NM_000368.5(TSC1):c.363+668G>C

SNV
Unknown

Chr9:132924919

Pathogenic

Tuberous sclerosis 1

Criteria Provided
Single Submitter

1 SubmittersRCV005358352

NM_000368.5(TSC1):c.363+668G>A

SNV
Germline

Chr9:132924919

Pathogenic/Likely pathogenic

Tuberous sclerosis syndrome
Lymphangiomyomatosis
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005356906 RCV006257402

NM_000548.5(TSC2):c.5259+2T>A

SNV
Germline

Chr16:2088327

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

3 SubmittersRCV005408418 RCV005515751

NM_000548.5(TSC2):c.4874T>A (p.Met1625Lys)

SNV
Germline

Chr16:2086756

Likely pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

1 SubmittersRCV005416183

NM_000548.5(TSC2):c.461C>A (p.Thr154Asn)

SNV
Germline

Chr16:2054420

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome

Criteria Provided
Conflicting Classifications

3 SubmittersRCV005513644 RCV006480012 RCV006553545

NM_000368.5(TSC1):c.664-3T>C

SNV
Germline

Chr9:132921439

Conflicting classifications of pathogenicity

Tuberous sclerosis 1

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005621546

NM_000548.5(TSC2):c.138+1G>T

SNV
Germline

Chr16:2048754

Likely pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

1 SubmittersRCV005622890

NM_000368.5(TSC1):c.2535G>A (p.Met845Ile)

SNV
Germline

Chr9:132900805

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005759222 RCV006489757

NM_000368.5(TSC1):c.2527C>T (p.Gln843Ter)

SNV
Germline

Chr9:132900813

Pathogenic/Likely pathogenic

Tuberous sclerosis 1

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005859392

NM_000548.5(TSC2):c.1792T>A (p.Tyr598Asn)

SNV
Germline

Chr16:2070531

Likely pathogenic

Tuberous sclerosis syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005866677

NM_000548.5(TSC2):c.3277G>T (p.Glu1093Ter)

SNV
Germline

Chr16:2079421

Pathogenic

Tuberous sclerosis syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005866712

NM_000548.5(TSC2):c.523G>T (p.Glu175Ter)

SNV
Germline

Chr16:2055443

Pathogenic

Tuberous sclerosis syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005866729

NM_000548.5(TSC2):c.4471A>T (p.Lys1491Ter)

SNV
Germline

Chr16:2084693

Likely pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

1 SubmittersRCV005885872

NM_000548.5(TSC2):c.1944C>A (p.Tyr648Ter)

SNV
Germline

Chr16:2071614

Likely pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

1 SubmittersRCV005886067

NM_000548.5(TSC2):c.3337G>T (p.Glu1113Ter)

SNV
Germline

Chr16:2079609

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

1 SubmittersRCV005938378

NM_000548.5(TSC2):c.5023C>T (p.Pro1675Ser)

SNV
Germline

Chr16:2087896

Likely pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

1 SubmittersRCV006249275

NM_000548.5(TSC2):c.4882A>T (p.Lys1628Ter)

SNV
Germline

Chr16:2086764

Pathogenic

Tuberous sclerosis syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006278360

NM_000548.5(TSC2):c.2945T>C (p.Val982Ala)

SNV
Germline

Chr16:2077705

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

2 SubmittersRCV006285354 RCV006475487

NM_000548.5(TSC2):c.481+1G>C

SNV
Germline

Chr16:2054441

Pathogenic

Tuberous sclerosis syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006437299

NM_000548.5(TSC2):c.899G>T (p.Gly300Val)

SNV
Germline

Chr16:2058797

Likely pathogenic

Tuberous sclerosis syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006437330

NM_000548.5(TSC2):c.1257+1G>T

SNV
Germline

Chr16:2062009

Pathogenic

Tuberous sclerosis syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006437335

NM_000548.5(TSC2):c.649-2A>G

SNV
Germline

Chr16:2056642

Likely pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

1 SubmittersRCV006509940

NM_000548.5(TSC2):c.4493G>T (p.Ser1498Ile)

SNV
Germline

Chr16:2084715

Likely pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

1 SubmittersRCV006505851

NM_000548.5(TSC2):c.1047T>A (p.Tyr349Ter)

SNV
Germline

Chr16:2060741

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

1 SubmittersRCV006507644

NM_000548.5(TSC2):c.1716+2T>G

SNV
Germline

Chr16:2065637

Likely pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

1 SubmittersRCV006511477

NM_000548.5(TSC2):c.3179G>A (p.Trp1060Ter)

SNV
Germline

Chr16:2079323

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

1 SubmittersRCV006511549

NM_000548.5(TSC2):c.390C>G (p.Tyr130Ter)

SNV
Germline

Chr16:2054349

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

1 SubmittersRCV006518522

NM_000368.5(TSC1):c.2225T>G (p.Leu742Ter)

SNV
Germline

Chr9:132902771

Pathogenic

Tuberous sclerosis 1

Criteria Provided
Single Submitter

1 SubmittersRCV006518525

NM_000548.5(TSC2):c.2110A>T (p.Lys704Ter)

SNV
Germline

Chr16:2072253

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

1 SubmittersRCV006528389

NM_000548.5(TSC2):c.4259C>G (p.Ser1420Ter)

SNV
Germline

Chr16:2084481

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

1 SubmittersRCV006514880

NM_000368.5(TSC1):c.1327G>T (p.Gly443Ter)

SNV
Germline

Chr9:132907307

Pathogenic

Tuberous sclerosis 1

Criteria Provided
Single Submitter

1 SubmittersRCV006520732

NM_000548.5(TSC2):c.2337C>G (p.Tyr779Ter)

SNV
Germline

Chr16:2072965

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

1 SubmittersRCV006519623

NM_000548.5(TSC2):c.5061C>A (p.Cys1687Ter)

SNV
Germline

Chr16:2087934

Pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

1 SubmittersRCV006529357

NM_000548.5(TSC2):c.1234G>T (p.Glu412Ter)

SNV
Germline

Chr16:2061985

Likely pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

1 SubmittersRCV006555019

NM_000548.5(TSC2):c.2T>G (p.Met1Arg)

SNV
Germline

Chr16:2048617

Likely pathogenic

Tuberous sclerosis 2

Criteria Provided
Single Submitter

1 SubmittersRCV006619044