ClinVar Miner

Submissions for variant NM_018249.6(CDK5RAP2):c.2568G>A (p.Gln856=)

gnomAD frequency: 0.00150  dbSNP: rs144723485
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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 RCV000367529 SCV000476936 uncertain significance Primary Microcephaly, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000504230 SCV000593941 likely benign not specified 2016-02-24 criteria provided, single submitter clinical testing
GeneDx RCV000901368 SCV000729601 likely benign not provided 2021-01-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000901368 SCV001045734 benign not provided 2025-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000901368 SCV001371532 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing CDK5RAP2: BP4, BP7

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