ClinVar Miner

Submissions for variant NM_001363.5(DKC1):c.85-4G>A

gnomAD frequency: 0.00008  dbSNP: rs782787521
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000865901 SCV001006928 likely benign Dyskeratosis congenita 2023-12-26 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003918375 SCV004735401 likely benign DKC1-related condition 2023-11-30 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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