ClinVar Miner

Submissions for variant NM_007186.6(CEP250):c.2391C>T (p.Val797=)

gnomAD frequency: 0.00357  dbSNP: rs111853969
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000880057 SCV001023126 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000880057 SCV002544624 likely benign not provided 2023-07-01 criteria provided, single submitter clinical testing CEP250: BP4, BS2
Fulgent Genetics, Fulgent Genetics RCV002501368 SCV002809532 likely benign Cone-rod dystrophy and hearing loss 2 2022-02-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003920498 SCV004731336 benign CEP250-related disorder 2022-04-04 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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