ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.6270+19A>G

gnomAD frequency: 0.00001  dbSNP: rs1181927624
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002078535 SCV002375182 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2023-11-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498287 SCV002811434 likely benign Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 2021-10-15 criteria provided, single submitter clinical testing

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