ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.2052+17A>G

gnomAD frequency: 0.00001  dbSNP: rs886038691
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000244841 SCV000314522 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002058358 SCV002465716 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2023-09-19 criteria provided, single submitter clinical testing

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