ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.2157C>T (p.Cys719=)

gnomAD frequency: 0.02390  dbSNP: rs9453148
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000376548 SCV000464462 likely benign Retinitis pigmentosa 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV000946960 SCV001093122 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV000946960 SCV001839012 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000946960 SCV005222147 likely benign not provided criteria provided, single submitter not provided
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005238943 SCV005886800 benign not specified 2025-02-03 criteria provided, single submitter clinical testing
Natera, Inc. RCV000376548 SCV001463551 benign Retinitis pigmentosa 2020-09-16 no assertion criteria provided clinical testing

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