ClinVar Miner

Submissions for variant NM_018249.6(CDK5RAP2):c.4821G>C (p.Arg1607Ser)

gnomAD frequency: 0.01549  dbSNP: rs16909747
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000145490 SCV000192576 benign not specified 2013-04-16 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000370951 SCV000476919 likely benign Primary Microcephaly, Recessive 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000145490 SCV000512548 benign not specified 2015-09-25 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000961959 SCV001109018 benign not provided 2024-01-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003895027 SCV004711262 benign CDK5RAP2-related disorder 2019-07-31 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Breakthrough Genomics, Breakthrough Genomics RCV000961959 SCV005225472 likely benign not provided criteria provided, single submitter not provided

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