ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.4123T>C (p.Leu1375=)

gnomAD frequency: 0.00002  dbSNP: rs368322148
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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 RCV001412564 SCV001614651 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2022-04-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004733293 SCV005355644 likely benign CEP290-related disorder 2024-08-07 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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