ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.455G>A (p.Arg152Gln) (rs62646862)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg RCV000408574 SCV000281808 likely pathogenic Stargardt disease 1 2016-01-01 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000402682 SCV000337021 likely benign not specified 2015-12-21 criteria provided, single submitter clinical testing
GeneDx RCV000402682 SCV000511880 likely benign not specified 2018-01-26 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.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000402682 SCV000602336 likely benign not specified 2018-09-27 criteria provided, single submitter clinical testing
Invitae RCV000085654 SCV001118883 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000085654 SCV001147343 uncertain significance not provided 2019-02-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001100156 SCV001256662 uncertain significance 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Retina International RCV000085654 SCV000117794 not provided not provided no assertion provided not provided
GenomeConnect, ClinGen RCV000844929 SCV000986745 not provided Stargardt disease no assertion provided phenotyping only Variant interpretted as Uncertain significance and reported on 06-25-2018 by Lab or GTR ID 239772. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
Sharon lab,Hadassah-Hebrew University Medical Center RCV000844929 SCV001160870 likely pathogenic Stargardt disease 2019-06-23 no assertion criteria provided research

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