ClinVar Miner

Submissions for variant NM_001363.5(DKC1):c.1179C>A (p.Ile393=)

dbSNP: rs2148516390
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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 RCV001495859 SCV001700549 likely benign Dyskeratosis congenita 2022-12-23 criteria provided, single submitter clinical testing

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