Submissions for variant NM_032119.4(ADGRV1):c.8876G>A (p.Arg2959Gln)

gnomAD frequency: 0.02358  dbSNP: rs73175207

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000039656	SCV000063345	benign	not specified	2011-05-04	criteria provided, single submitter	clinical testing	Arg2959Gln in exon 40 of GPR98: This variant is not expected to have clinical si gnificance because this residue is not conserved across species. Of note, mouse, elephant and frog have a glutamine at this position. In addition, this variant has been identified in dbSNP in 6.8% (8/118) West African control chromosomes (r s73175207).
GeneDx	RCV000039656	SCV000168716	benign	not specified	2014-02-10	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.
PreventionGenetics, part of Exact Sciences	RCV000039656	SCV000314879	benign	not specified		criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000710468	SCV000840695	benign	not provided	2017-09-14	criteria provided, single submitter	clinical testing
Invitae	RCV000710468	SCV001103050	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001155532	SCV001316966	benign	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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000710468	SCV001471035	benign	not provided	2023-11-22	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002496637	SCV002813534	likely benign	Usher syndrome type 2C; Febrile seizures, familial, 4	2021-11-05	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000039656	SCV000193296	likely benign	not specified		no assertion criteria provided	clinical testing