ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.5013-7A>C

gnomAD frequency: 0.00002  dbSNP: rs762217156
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000177954 SCV000229917 uncertain significance not provided 2015-04-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001496142 SCV001700833 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2024-12-02 criteria provided, single submitter clinical testing

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