ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.1268A>G (p.His423Arg)

gnomAD frequency: 0.25928  dbSNP: rs3112831
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Total submissions: 16
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000173675 SCV000166766 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.
Eurofins Ntd Llc (ga) RCV000173675 SCV000224814 benign not specified 2014-05-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000173675 SCV000303746 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000303578 SCV000359519 likely benign Retinitis Pigmentosa, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000360724 SCV000359520 likely benign Stargardt Disease, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000408013 SCV000359521 likely benign Cone-Rod Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000297592 SCV000359522 likely benign Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000085383 SCV000493312 likely benign not provided 2016-08-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000085383 SCV000602331 benign not provided 2023-11-22 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001096637 SCV001252862 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 RCV000085383 SCV001730038 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003888468 SCV004706021 benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Retina International RCV000085383 SCV000117520 not provided not provided no assertion provided not provided
Department of Ophthalmology and Visual Sciences Kyoto University RCV000085383 SCV000172527 probable-non-pathogenic not provided no assertion criteria provided not provided Converted during submission to Likely benign.
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000173675 SCV001955265 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000173675 SCV001972293 benign not specified no assertion criteria provided clinical testing

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