ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.183C>T (p.Leu61=)

dbSNP: rs2089056934
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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 RCV001473310 SCV001677462 likely benign Tay-Sachs disease 2025-01-01 criteria provided, single submitter clinical testing

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