ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.4317A>C (p.Thr1439=)

gnomAD frequency: 0.00014  dbSNP: rs375966721
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001418279 SCV001620504 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2023-12-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002493984 SCV002795544 likely benign Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 2021-12-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004531275 SCV004734475 likely benign CEP290-related disorder 2021-07-16 criteria provided, single submitter 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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