Submissions for variant NM_032119.4(ADGRV1):c.14309G>A (p.Arg4770His)

gnomAD frequency: 0.00378  dbSNP: rs41304892

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000039526	SCV000063215	benign	not specified	2012-04-30	criteria provided, single submitter	clinical testing	Arg4770His in Exon 70 of GPR98: This variant is not expected to have clinical si gnificance because it has been identified in 0.7% (45/6636) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS; dbSNP rs41304892).
GeneDx	RCV000039526	SCV000168726	benign	not specified	2013-03-14	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.
Genetic Services Laboratory, University of Chicago	RCV000039526	SCV000193239	benign	not specified	2015-05-22	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000039526	SCV000232388	benign	not specified	2014-07-04	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000710431	SCV000840647	likely benign	not provided	2018-04-13	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000710431	SCV000892413	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	ADGRV1: BP4, BS2
Invitae	RCV000710431	SCV001117315	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001157523	SCV001319111	uncertain significance	Usher syndrome type 2C	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000710431	SCV001743300	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000039526	SCV001931815	benign	not specified		no assertion criteria provided	clinical testing