Submissions for variant NM_001080476.3(GRXCR1):c.272G>T (p.Gly91Val)

gnomAD frequency: 0.00339  dbSNP: rs113203706

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham 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)
Labcorp Genetics (formerly Invitae), Labcorp	RCV000431947	SCV001099026	benign	not provided	2024-01-18	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000431947	SCV001144119	benign	not provided	2018-11-26	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001147182	SCV001307967	benign	Autosomal recessive nonsyndromic hearing loss 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.
CeGaT Center for Human Genetics Tuebingen	RCV000431947	SCV002586020	likely benign	not provided	2023-08-01	criteria provided, single submitter	clinical testing	GRXCR1: BP4, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV000431947	SCV005257322	likely benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV003975210	SCV004790227	benign	GRXCR1-related disorder	2021-05-06	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).