ClinVar Miner

Submissions for variant NM_001363.5(DKC1):c.776A>C (p.His259Pro)

gnomAD frequency: 0.00316  dbSNP: rs61757608
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000420457 SCV000511362 benign not provided 2017-01-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001079147 SCV000631323 benign Dyskeratosis congenita 2025-01-06 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001727714 SCV002069353 benign not specified 2019-06-24 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000420457 SCV005276545 benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000420457 SCV001932048 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001727714 SCV001975942 benign not specified no assertion criteria provided clinical testing

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