ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.906C>T (p.Ser302=)

gnomAD frequency: 0.00002  dbSNP: rs765612435
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001276071 SCV001685581 likely benign Tay-Sachs disease 2024-12-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002372436 SCV002688522 likely benign Inborn genetic diseases 2021-12-13 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Natera, Inc. RCV001276071 SCV001461908 uncertain significance Tay-Sachs disease 2019-01-06 no assertion criteria provided clinical testing

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