Submissions for variant NM_032119.4(ADGRV1):c.12269C>A (p.Thr4090Asn)

gnomAD frequency: 0.00372  dbSNP: rs199839743

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000039515	SCV000063204	benign	not specified	2012-04-30	criteria provided, single submitter	clinical testing	Thr4090Asn in Exon 59 of GPR98: This variant is not expected to have clinical si gnificance because it has been identified in 0.6% (39/6606) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS).
GeneDx	RCV000419837	SCV000168721	benign	not provided	2019-01-16	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 26969326, 30180840, 32707200)
Eurofins Ntd Llc (ga)	RCV000039515	SCV000231442	likely benign	not specified	2015-02-20	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000419837	SCV000510804	likely benign	not provided	2016-12-15	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
Athena Diagnostics	RCV000419837	SCV000840641	likely benign	not provided	2018-07-05	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000419837	SCV001101059	likely benign	not provided	2025-01-29	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000419837	SCV001154446	benign	not provided	2025-02-01	criteria provided, single submitter	clinical testing	ADGRV1: BP4, BS1, BS2
Illumina Laboratory Services, Illumina	RCV001155716	SCV001317171	uncertain significance	Usher syndrome type 2C	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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
PreventionGenetics, part of Exact Sciences	RCV004549458	SCV004745077	benign	ADGRV1-related disorder	2020-05-07	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).