ClinVar Miner

Submissions for variant NM_001080476.2(GRXCR1):c.272G>T (p.Gly91Val) (rs113203706)

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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 RCV000155126 SCV000204812 benign not specified 2012-04-30 criteria provided, single submitter clinical testing Gly91Val in Exon 01 of GRXCR1: This variant is not expected to have clinical sig nificance because it has been identified in 0.4% (25/6762) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs113203706).
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000431947 SCV000511641 likely benign not provided 2016-11-07 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
GeneDx RCV000431947 SCV000718775 benign not provided 2018-07-16 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 20137774, 20137778)
Invitae RCV000431947 SCV001099026 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000431947 SCV001144119 benign not provided 2018-11-26 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001147182 SCV001307967 benign Deafness, autosomal recessive 25 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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