ClinVar Miner

Submissions for variant NM_001363.5(DKC1):c.41A>G (p.Lys14Arg)

gnomAD frequency: 0.00011  dbSNP: rs376632263
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001313757 SCV001504261 likely benign Dyskeratosis congenita 2024-10-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV001313757 SCV002535829 uncertain significance Dyskeratosis congenita 2021-12-05 criteria provided, single submitter curation

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