ClinVar Miner

Submissions for variant NM_018249.6(CDK5RAP2):c.2655C>G (p.Phe885Leu)

gnomAD frequency: 0.00333  dbSNP: rs112600265
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000345743 SCV000476933 uncertain significance Primary Microcephaly, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000500672 SCV000593939 likely benign not specified 2016-08-31 criteria provided, single submitter clinical testing
GeneDx RCV000964421 SCV000714510 benign not provided 2018-07-25 criteria provided, single submitter clinical testing
Invitae RCV000964421 SCV001111627 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000964421 SCV002546079 likely benign not provided 2024-03-01 criteria provided, single submitter clinical testing CDK5RAP2: BP4, BS2
Ambry Genetics RCV002523724 SCV003536998 likely benign Inborn genetic diseases 2022-09-20 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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