ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.2595C>T (p.Leu865=)

gnomAD frequency: 0.00046  dbSNP: rs114632733
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000420548 SCV000531531 likely benign not specified 2016-08-30 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000866575 SCV001007689 benign Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2024-01-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV001828436 SCV002094284 likely benign Leber congenital amaurosis 2019-12-12 no assertion criteria provided clinical testing

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