ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.1572G>A (p.Gln524=)

gnomAD frequency: 0.00002  dbSNP: rs1389009140
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001478493 SCV001682764 likely benign Tay-Sachs disease 2024-09-08 criteria provided, single submitter clinical testing

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