ClinVar Miner

Submissions for variant NM_018249.6(CDK5RAP2):c.55T>C (p.Cys19Arg)

gnomAD frequency: 0.00066  dbSNP: rs143766657
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000500911 SCV000593948 uncertain significance not specified 2016-10-13 criteria provided, single submitter clinical testing
Invitae RCV000925212 SCV001070746 likely benign not provided 2023-11-22 criteria provided, single submitter clinical testing

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