ClinVar Miner

Submissions for variant NM_018249.6(CDK5RAP2):c.3558C>T (p.Leu1186=)

gnomAD frequency: 0.00110  dbSNP: rs146736925
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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 RCV000192564 SCV000246928 uncertain significance not specified 2015-02-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000880850 SCV001023974 benign not provided 2024-01-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003927771 SCV004756133 likely benign CDK5RAP2-related disorder 2019-06-04 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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