ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.181-9A>G

gnomAD frequency: 0.00001  dbSNP: rs745494615
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002008872 SCV002276490 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2023-09-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005008362 SCV005632065 uncertain significance Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 2024-03-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004538715 SCV004752549 likely benign CEP290-related disorder 2020-03-27 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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