ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.1437T>C (p.Ala479=)

dbSNP: rs2140319660
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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 RCV002076824 SCV002329144 likely benign Tay-Sachs disease 2021-08-08 criteria provided, single submitter clinical testing

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