ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.6249C>T (p.Ile2083=)

gnomAD frequency: 0.13311  dbSNP: rs1801359
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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000178562 SCV000166756 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) RCV000178562 SCV000230666 benign not specified 2014-08-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000178562 SCV000303775 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000329139 SCV000359219 likely benign Stargardt Disease, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000383722 SCV000359220 likely benign Cone-Rod Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000289405 SCV000359221 likely benign Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000344433 SCV000359222 likely benign Retinitis Pigmentosa, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001101662 SCV001258288 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 RCV000085799 SCV001718112 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498459 SCV002805382 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
Dept Of Ophthalmology, Nagoya University RCV003888480 SCV004705785 benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Retina International RCV000085799 SCV000117942 not provided not provided no assertion provided not provided

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