ClinVar Miner

Submissions for variant NM_018249.6(CDK5RAP2):c.307-4G>A

gnomAD frequency: 0.00860  dbSNP: rs7030969
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000145470 SCV000192555 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000296362 SCV000476966 uncertain significance Primary Microcephaly, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000956745 SCV001103524 benign not provided 2024-01-08 criteria provided, single submitter clinical testing
GeneDx RCV000956745 SCV001753106 benign not provided 2018-11-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003965097 SCV004780716 benign CDK5RAP2-related disorder 2019-04-05 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).

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