ClinVar Miner

Submissions for variant NM_007186.6(CEP250):c.3526GCCCAG[2] (p.1176AQ[2])

dbSNP: rs561035032
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001474156 SCV001678324 likely benign not provided 2025-01-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003930981 SCV004746918 likely benign CEP250-related disorder 2022-02-08 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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