ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.6132T>G (p.Pro2044=)

gnomAD frequency: 0.00001  dbSNP: rs765002773
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000421065 SCV000530604 likely benign not specified 2016-08-08 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.
Eurofins Ntd Llc (ga) RCV000726726 SCV000702451 uncertain significance not provided 2016-11-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001083326 SCV001009923 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2024-01-23 criteria provided, single submitter clinical testing
Natera, Inc. RCV001828431 SCV002091851 likely benign Leber congenital amaurosis 2020-03-10 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004533083 SCV004739347 likely benign CEP290-related disorder 2020-01-03 no assertion criteria provided 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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