ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.3899G>A (p.Arg1300Gln) (rs61750129)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000342976 SCV000332064 benign not specified 2015-06-11 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000377626 SCV000359363 likely benign Cone-Rod Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000283155 SCV000359364 likely benign Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000324092 SCV000359365 likely benign Retinitis Pigmentosa, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,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
Invitae RCV000085599 SCV001092613 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000342976 SCV001159261 benign not specified 2019-03-18 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001099863 SCV001256352 likely benign ABCA4-Related Disorders 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.
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

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