ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.2828G>A (p.Arg943Gln)

gnomAD frequency: 0.02951  dbSNP: rs1801581
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Total submissions: 19
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000152706 SCV000166770 benign not specified 2011-07-12 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.
Eurofins Ntd Llc (ga) RCV000152706 SCV000202091 benign not specified 2013-11-26 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000152706 SCV000303753 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000399411 SCV000359432 likely benign Stargardt Disease, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000294335 SCV000359433 likely benign Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000349295 SCV000359434 likely benign Cone-Rod Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000392936 SCV000359435 likely benign Retinitis Pigmentosa, Recessive 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000085512 SCV000884934 benign not provided 2023-11-22 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001101950 SCV001258594 likely benign ABCA4-related disorder 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.
Invitae RCV000085512 SCV001730037 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV000008375 SCV002549840 established risk allele Severe early-childhood-onset retinal dystrophy 2022-06-27 criteria provided, single submitter clinical testing This variant was identified together with variant NM_000350.3:c.2588G>C.
Dept Of Ophthalmology, Nagoya University RCV003887858 SCV004704824 benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research
OMIM RCV000008374 SCV000028582 risk factor MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO 2002-06-14 no assertion criteria provided literature only
OMIM RCV000008375 SCV000028583 pathogenic Severe early-childhood-onset retinal dystrophy 2002-06-14 no assertion criteria provided literature only
Retina International RCV000085512 SCV000117649 not provided not provided no assertion provided not provided
Sharon lab, Hadassah-Hebrew University Medical Center RCV001002837 SCV001160857 likely pathogenic Stargardt disease 2019-06-23 no assertion criteria provided research
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000152706 SCV001744000 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000152706 SCV001919816 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000152706 SCV001959541 benign not specified no assertion criteria provided clinical testing

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