ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.6282+7G>A

gnomAD frequency: 0.13306  dbSNP: rs17110761
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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000178563 SCV000166757 benign not specified 2011-07-05 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) RCV000178563 SCV000230667 benign not specified 2014-05-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000178563 SCV000303776 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000357799 SCV000359211 likely benign Cone-Rod Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000263289 SCV000359212 likely benign Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000318414 SCV000359213 likely benign Retinitis Pigmentosa, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000354509 SCV000359214 likely benign Stargardt Disease, Recessive 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000085802 SCV001157023 benign not provided 2023-11-29 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001101660 SCV001258286 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000085802 SCV001718111 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002490745 SCV002795889 benign Cone-rod dystrophy 3; Age related macular degeneration 2; Severe early-childhood-onset retinal dystrophy; Retinitis pigmentosa 19 2021-07-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000085802 SCV005258633 likely benign not provided criteria provided, single submitter not provided
Retina International RCV000085802 SCV000117945 not provided not provided no assertion provided not provided
Department of Ophthalmology and Visual Sciences Kyoto University RCV000085802 SCV000172538 probable-non-pathogenic not provided no assertion criteria provided not provided Converted during submission to Likely benign.

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