ClinVar Miner

Submissions for variant NM_018249.6(CDK5RAP2):c.5355G>A (p.Thr1785=)

gnomAD frequency: 0.00277  dbSNP: rs145402135
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000335729 SCV000476910 uncertain significance Primary Microcephaly, Recessive 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000888802 SCV000718536 likely benign not provided 2019-10-10 criteria provided, single submitter clinical testing
Invitae RCV000888802 SCV001032455 benign not provided 2024-01-05 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001821109 SCV002066193 likely benign not specified 2017-12-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000888802 SCV004160658 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing CDK5RAP2: BP4, BP7, BS2

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