ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.1414A>C (p.Arg472=)

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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 RCV005083152 SCV005715273 likely benign Tay-Sachs disease 2024-08-14 criteria provided, single submitter clinical testing

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