ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.924C>T (p.Val308=)

dbSNP: rs2140322950
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002146604 SCV002468365 likely benign Tay-Sachs disease 2020-11-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004704802 SCV005211007 likely benign not provided criteria provided, single submitter not provided

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