ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.670-13_670-12del

dbSNP: rs941686794
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000841791 SCV000983775 likely benign not provided 2020-12-08 criteria provided, single submitter clinical testing
Invitae RCV001869283 SCV002304486 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2023-12-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495204 SCV002804694 likely benign Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 2021-10-28 criteria provided, single submitter clinical testing

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