ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.738A>C (p.Ala246=)

dbSNP: rs2140324194
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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 RCV001505694 SCV001710602 likely benign Tay-Sachs disease 2021-05-18 criteria provided, single submitter clinical testing

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