ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.4256T>C (p.Leu1419Ser)

gnomAD frequency: 0.77065  dbSNP: rs624851
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000079536 SCV000111418 benign not specified 2013-08-09 criteria provided, single submitter clinical testing
GeneDx RCV000079536 SCV000168373 benign not specified 2011-07-05 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.
Illumina Laboratory Services, Illumina RCV000366626 SCV000464433 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.
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000604073 SCV000745365 benign Retinitis pigmentosa 25 2015-03-04 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000604073 SCV000885384 benign Retinitis pigmentosa 25 2023-11-29 criteria provided, single submitter clinical testing
Invitae RCV001522333 SCV001731853 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000604073 SCV001745358 benign Retinitis pigmentosa 25 2021-07-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000079536 SCV003929181 benign not specified 2023-04-17 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000604073 SCV000734520 benign Retinitis pigmentosa 25 no assertion criteria provided clinical testing
Natera, Inc. RCV000366626 SCV001459422 benign Retinitis pigmentosa 2020-09-16 no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000079536 SCV001954626 benign not specified no assertion criteria provided clinical testing

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