ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.1421+14G>T

dbSNP: rs201497629
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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 RCV002140970 SCV002462074 likely benign Tay-Sachs disease 2024-02-20 criteria provided, single submitter clinical testing

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