ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.549C>T (p.Tyr183=)

gnomAD frequency: 0.00002  dbSNP: rs781004914
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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 RCV001393474 SCV001595136 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2024-10-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002493940 SCV002798455 likely benign Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 2021-08-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004531207 SCV004732911 likely benign CEP290-related disorder 2023-07-17 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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