ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.102C>T (p.Asp34=)

gnomAD frequency: 0.00007  dbSNP: rs377310315
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001276074 SCV001665503 likely benign Tay-Sachs disease 2021-12-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000861244 SCV002585507 likely benign not provided 2022-08-01 criteria provided, single submitter clinical testing HEXA: BP4, BP7
Natera, Inc. RCV001276074 SCV001461913 uncertain significance Tay-Sachs disease 2018-05-04 no assertion criteria provided clinical testing

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