ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.3899G>A (p.Arg1300Gln)

gnomAD frequency: 0.02065  dbSNP: rs61750129
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 13
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000342976 SCV000332064 benign not specified 2015-06-11 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000377626 SCV000359363 likely benign Cone-Rod Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000283155 SCV000359364 likely benign Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000324092 SCV000359365 likely benign Retinitis Pigmentosa, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000378686 SCV000359366 likely benign Stargardt Disease, Recessive 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000342976 SCV000511892 benign not specified 2015-03-18 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.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000085599 SCV000610520 benign not provided 2017-05-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000085599 SCV001092613 benign not provided 2025-01-29 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000085599 SCV001159261 benign not provided 2023-11-22 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001099863 SCV001256352 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.
Breakthrough Genomics, Breakthrough Genomics RCV000085599 SCV005258651 likely benign not provided criteria provided, single submitter not provided
Retina International RCV000085599 SCV000117737 not provided not provided no assertion provided not provided
NIHR Bioresource Rare Diseases, University of Cambridge RCV000505027 SCV000598968 likely benign Macular dystrophy 2015-01-01 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.