Submissions for variant NM_032119.4(ADGRV1):c.6133G>A (p.Gly2045Arg)

gnomAD frequency: 0.00484  dbSNP: rs41308846

Total submissions: 15

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000039604	SCV000063293	benign	not specified	2015-05-14	criteria provided, single submitter	clinical testing	p.Gly2045Arg in exon 28 of GPR98: This variant is not expected to have clinical significance because it has been identified in 0.7% (480/67628) of European chro mosomes by the Exome Aggregation Consortium, including one homozygote (ExAC, htt p://exac.broadinstitute.org; dbSNP rs41308846).
Genetic Services Laboratory, University of Chicago	RCV000146082	SCV000193279	uncertain significance	Febrile seizures, familial, 4	2014-03-03	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000039604	SCV000228652	benign	not specified	2015-01-02	criteria provided, single submitter	clinical testing
GeneDx	RCV000442158	SCV000321751	benign	not provided	2020-02-25	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 24498627, 30245029, 32707200)
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000442158	SCV000511519	likely benign	not provided	2017-01-31	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
Athena Diagnostics	RCV000442158	SCV000840676	likely benign	not provided	2018-03-29	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000442158	SCV000884987	benign	not provided	2022-09-12	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000442158	SCV001121816	benign	not provided	2025-01-27	criteria provided, single submitter	clinical testing
Mendelics	RCV000987536	SCV001136851	benign	Usher syndrome type 2C	2019-05-28	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000987536	SCV001315854	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	RCV000442158	SCV002062599	likely benign	not provided	2025-01-01	criteria provided, single submitter	clinical testing	ADGRV1: BS2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000039604	SCV001742183	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000039604	SCV001919927	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000442158	SCV001927870	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000442158	SCV001965511	likely benign	not provided		no assertion criteria provided	clinical testing