ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.1422-13C>T

dbSNP: rs1366173591
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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 RCV002160158 SCV002420274 likely benign Tay-Sachs disease 2021-09-19 criteria provided, single submitter clinical testing

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