ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.1523-7A>G

gnomAD frequency: 0.00001  dbSNP: rs1413722193
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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 RCV001454382 SCV001658106 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2023-07-16 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004733326 SCV005352205 likely benign CEP290-related disorder 2023-05-04 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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