ClinVar Miner

Submissions for variant NM_007186.6(CEP250):c.1001C>T (p.Ala334Val)

gnomAD frequency: 0.00169  dbSNP: rs116166982
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001463513 SCV001667459 likely benign not provided 2024-01-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001463513 SCV004152648 likely benign not provided 2022-08-01 criteria provided, single submitter clinical testing CEP250: BP4, BS2
PreventionGenetics, part of Exact Sciences RCV003920983 SCV004730479 likely benign CEP250-related disorder 2021-05-26 criteria provided, single submitter 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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