ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.6141A>G (p.Ser2047=)

dbSNP: rs779553989
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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 RCV001399070 SCV001600854 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2023-10-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004531217 SCV004710675 likely benign CEP290-related disorder 2023-08-28 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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