ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.6764G>T (p.Ser2255Ile) (rs6666652)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000178683 SCV000166761 benign not specified 2011-07-13 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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000178683 SCV000230810 benign not specified 2014-08-25 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000178683 SCV000303784 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000340209 SCV000359179 benign Stargardt Disease, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000376116 SCV000359180 benign Cone-Rod Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000281600 SCV000359181 benign Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000336644 SCV000359182 benign Retinitis Pigmentosa, Recessive 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000178683 SCV000602333 benign not specified 2018-07-22 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001097882 SCV001254208 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Retina International RCV000085855 SCV000117998 not provided not provided no assertion provided not provided
Department of Ophthalmology and Visual Sciences Kyoto University RCV000085855 SCV000172540 probable-non-pathogenic not provided no assertion criteria provided not provided Converted during submission to Likely benign.

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