ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.2052A>G (p.Gln684=) (rs111033248)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041805 SCV000065501 benign not specified 2016-06-08 criteria provided, single submitter clinical testing Gln684Gln in exon 12 of USH2A: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, has been identified in 0.7% (109/16500) of South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadi nstitute.org; dbSNP rs111033248).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000041805 SCV000702334 likely benign not specified 2016-10-27 criteria provided, single submitter clinical testing
Invitae RCV000888471 SCV001032107 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Mendelics RCV000986546 SCV001135565 benign Usher syndrome, type 2A 2019-05-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000986546 SCV001253542 uncertain significance Usher syndrome, type 2A 2017-04-28 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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Clinical Services Laboratory,Illumina RCV001097279 SCV001253543 uncertain significance Retinitis pigmentosa 2017-04-28 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.

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