ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.1338T>A (p.Pro446=)

dbSNP: rs34085965
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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 RCV001435663 SCV001638489 likely benign Tay-Sachs disease 2020-04-11 criteria provided, single submitter clinical testing

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