ClinVar Miner

Submissions for variant NM_021615.5(CHST6):c.729C>T (p.Arg243=)

dbSNP: rs916401556
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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 RCV001309627 SCV001499133 likely benign Macular corneal dystrophy 2023-09-27 criteria provided, single submitter clinical testing

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