ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.5814A>G (p.Leu1938=) (rs4147857)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 16
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000211879 SCV000166750 benign not specified 2012-10-10 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.
PreventionGenetics,PreventionGenetics RCV000211879 SCV000303768 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000349633 SCV000359248 likely benign Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000402778 SCV000359249 likely benign Stargardt Disease, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000309928 SCV000359250 likely benign Retinitis Pigmentosa, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000364498 SCV000359251 likely benign Cone-Rod Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001283557 SCV000602327 benign none provided 2020-08-25 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001096230 SCV001252427 benign ABCA4-Related Disorders 2018-01-13 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.
Invitae RCV000085761 SCV001720647 benign not provided 2020-12-02 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001549136 SCV001769237 benign Stargardt disease 1 2021-07-14 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001549137 SCV001769238 benign Retinitis pigmentosa 19 2021-07-14 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001549138 SCV001769239 benign Cone-rod dystrophy 3 2021-07-14 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001549139 SCV001769240 benign Age-related macular degeneration 2 2021-07-14 criteria provided, single submitter clinical testing
Retina International RCV000085761 SCV000117902 not provided not provided no assertion provided not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000211879 SCV001741160 benign not specified no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000211879 SCV001955971 benign not specified no assertion criteria provided clinical testing

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.