ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.93C>T (p.Ser31=)

gnomAD frequency: 0.00011  dbSNP: rs375955381
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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 RCV001472751 SCV001676889 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2024-12-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002506546 SCV002804205 likely benign Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 2022-05-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004533821 SCV004721499 likely benign CEP290-related disorder 2021-03-09 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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