ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.268C>T (p.Leu90=)

dbSNP: rs2140329094
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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 RCV001444975 SCV001647993 likely benign Tay-Sachs disease 2019-03-28 criteria provided, single submitter clinical testing

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