ClinVar Miner

Submissions for variant NM_025009.5(CEP135):c.2767G>A (p.Glu923Lys)

gnomAD frequency: 0.00158  dbSNP: rs145959811
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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 RCV000193492 SCV000246975 uncertain significance not specified 2014-04-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000892835 SCV001036738 likely benign not provided 2025-02-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003917741 SCV004734300 likely benign CEP135-related disorder 2022-04-20 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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