ClinVar Miner

Submissions for variant NM_001194998.2(CEP152):c.*5G>A

gnomAD frequency: 0.00096  dbSNP: rs74012133
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000145588 SCV000192685 uncertain significance Microcephaly 9, primary, autosomal recessive 2013-03-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004691764 SCV005193798 uncertain significance not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV004532643 SCV004724284 likely benign CEP152-related disorder 2020-03-19 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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