ClinVar Miner

Submissions for variant NM_001363.5(DKC1):c.1416G>A (p.Lys472=)

dbSNP: rs2148517591
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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 RCV002084656 SCV002330641 likely benign Dyskeratosis congenita 2022-11-05 criteria provided, single submitter clinical testing

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