ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.7130-16A>G

gnomAD frequency: 0.00001  dbSNP: rs1430895394
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002135447 SCV002455380 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2023-07-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002486952 SCV002800517 likely benign Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 2021-12-17 criteria provided, single submitter clinical testing

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