ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.441+14T>G

gnomAD frequency: 0.00001  dbSNP: rs765642954
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002148454 SCV002467104 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2023-11-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494459 SCV002804348 likely benign Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 2021-07-26 criteria provided, single submitter clinical testing

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