ClinVar Miner

Submissions for variant NM_001254.4(CDC6):c.640C>T (p.Arg214Trp)

gnomAD frequency: 0.00061  dbSNP: rs147186134
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194819 SCV000246913 uncertain significance not specified 2015-02-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001058112 SCV001222656 likely benign not provided 2024-12-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003937686 SCV004758672 likely benign CDC6-related disorder 2024-01-23 no assertion criteria provided 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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