ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.517C>T (p.Leu173=)

gnomAD frequency: 0.00017  dbSNP: rs200743199
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001275903 SCV001633160 likely benign Tay-Sachs disease 2025-01-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002336796 SCV002644134 likely benign Inborn genetic diseases 2022-08-29 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.
Fulgent Genetics, Fulgent Genetics RCV001275903 SCV002799881 likely benign Tay-Sachs disease 2021-09-08 criteria provided, single submitter clinical testing
Natera, Inc. RCV001275903 SCV001461556 likely benign Tay-Sachs disease 2020-09-16 no assertion criteria provided clinical testing

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