ClinVar Miner

Submissions for variant NM_025009.5(CEP135):c.2806A>G (p.Ile936Val)

gnomAD frequency: 0.00076  dbSNP: rs139474852
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000502232 SCV000594043 uncertain significance not specified 2015-11-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002060107 SCV002362709 likely benign not provided 2024-10-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002527222 SCV003690403 likely benign Inborn genetic diseases 2022-09-27 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.
PreventionGenetics, part of Exact Sciences RCV003902763 SCV004726407 likely benign CEP135-related disorder 2023-06-05 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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