ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.2563G>A (p.Val855Ile)

gnomAD frequency: 0.00001  dbSNP: rs557930078
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001050405 SCV001214509 likely benign Retinitis pigmentosa 12; Leber congenital amaurosis 8 2024-01-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV004031563 SCV004852068 likely benign Inborn genetic diseases 2023-09-23 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Natera, Inc. RCV001827318 SCV002090180 uncertain significance Leber congenital amaurosis 2020-03-04 no assertion criteria provided clinical testing

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