ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.2633G>A (p.Arg878His) (rs200124505)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000152629 SCV000201946 benign not specified 2015-07-01 criteria provided, single submitter clinical testing p.Arg878His in Exon 13 of USH2A: This variant is not expected to have clinical s ignificance because it has been identified in 1.4% (236/16510) of South Asian ch romosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute. org; dbSNP rs200124505). In addition, the arginine (Arg) residue at position 87 8 is poorly conserved in several species, with many mammals having a histidine ( His) at this position.
Invitae RCV000909410 SCV001054211 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Mendelics RCV000986543 SCV001135561 benign Usher syndrome, type 2A 2019-05-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000986543 SCV001255335 benign Usher syndrome, type 2A 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Illumina Clinical Services Laboratory,Illumina RCV001098934 SCV001255336 benign Retinitis pigmentosa 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.

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