ClinVar Miner

Submissions for variant NM_018249.6(CDK5RAP2):c.4399A>G (p.Ile1467Val)

gnomAD frequency: 0.00012  dbSNP: rs139924571
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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 RCV000502687 SCV000593949 uncertain significance not specified 2017-03-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000920253 SCV001065615 likely benign not provided 2024-12-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003915366 SCV004728022 likely benign CDK5RAP2-related disorder 2023-03-02 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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