ClinVar Miner

Submissions for variant NM_025009.5(CEP135):c.3265T>A (p.Leu1089Ile)

gnomAD frequency: 0.00248  dbSNP: rs76659072
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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 RCV000192575 SCV000246977 uncertain significance not specified 2014-08-13 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000192575 SCV000332090 benign not specified 2015-06-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000898080 SCV001042266 likely benign not provided 2024-01-02 criteria provided, single submitter clinical testing
GeneDx RCV000898080 SCV001822258 likely benign not provided 2020-01-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003955144 SCV004773160 likely benign CEP135-related disorder 2019-03-07 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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