ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.4809T>C (p.Ala1603=)

gnomAD frequency: 0.00004  dbSNP: rs372592245
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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 RCV001445205 SCV001648229 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2023-12-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495625 SCV002798518 likely benign Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 2022-05-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004533750 SCV004715471 likely benign CEP290-related disorder 2021-11-03 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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