ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.3444-5C>T

gnomAD frequency: 0.19475  dbSNP: rs9445051
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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 RCV000401501 SCV000464445 benign Retinitis pigmentosa 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001514425 SCV001722267 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001530513 SCV001745366 benign Retinitis pigmentosa 25 2021-07-01 criteria provided, single submitter clinical testing
GeneDx RCV001514425 SCV001861288 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003230483 SCV003929187 benign not specified 2023-04-17 criteria provided, single submitter clinical testing
Natera, Inc. RCV001530513 SCV002084413 benign Retinitis pigmentosa 25 2019-11-20 no assertion criteria provided clinical testing

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