ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.977G>A (p.Ser326Asn) (rs112822256)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000513566 SCV000609218 uncertain significance not provided 2018-06-01 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000625446 SCV000745373 likely benign Retinitis pigmentosa 25 2017-06-23 criteria provided, single submitter clinical testing
Counsyl RCV000625446 SCV000794865 uncertain significance Retinitis pigmentosa 25 2017-10-18 criteria provided, single submitter clinical testing
Invitae RCV000513566 SCV001118443 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001074080 SCV001239649 uncertain significance Retinal dystrophy 2018-12-15 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000504943 SCV001319940 uncertain significance 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504943 SCV000599168 likely pathogenic Retinitis pigmentosa 2015-01-01 no assertion criteria provided research
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet RCV000504943 SCV000926929 uncertain significance Retinitis pigmentosa 2018-04-01 no assertion criteria provided research

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.