Submissions for variant NM_032119.4(ADGRV1):c.8691A>C (p.Glu2897Asp)

gnomAD frequency: 0.00391  dbSNP: rs201586455

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000039652	SCV000063341	benign	not specified	2012-04-30	criteria provided, single submitter	clinical testing	Glu2897Asp in Exon 38 of GPR98: This variant is not expected to have clinical si gnificance because it has been identified in 0.7% (45/6620) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS).
GeneDx	RCV000039652	SCV000168715	benign	not specified	2014-05-02	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.
Eurofins Ntd Llc (ga)	RCV000039652	SCV000229922	likely benign	not specified	2015-02-06	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000710466	SCV000602447	benign	not provided	2020-03-06	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000710466	SCV000840693	benign	not provided	2018-06-18	criteria provided, single submitter	clinical testing
Invitae	RCV000710466	SCV001101294	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001155528	SCV001316962	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.
CeGaT Center for Human Genetics Tuebingen	RCV000710466	SCV002563842	likely benign	not provided	2023-11-01	criteria provided, single submitter	clinical testing	ADGRV1: BP4, BS2
PreventionGenetics, part of Exact Sciences	RCV003924948	SCV004739096	benign	ADGRV1-related condition	2019-05-08	criteria provided, single submitter	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).
Clinical Genetics, Academic Medical Center	RCV000039652	SCV001918528	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000039652	SCV001928593	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000710466	SCV001972421	likely benign	not provided		no assertion criteria provided	clinical testing