Submissions for variant NM_032119.4(ADGRV1):c.6383G>A (p.Arg2128Gln)

gnomAD frequency: 0.00330  dbSNP: rs149390094

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000155107	SCV000204793	benign	not specified	2012-04-30	criteria provided, single submitter	clinical testing	Arg2128Gln in Exon 29 of GPR98: This variant is not expected to have clinical si gnificance because it has been identified in 0.7% (23/3168) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs149390094).
GeneDx	RCV000952521	SCV000513182	benign	not provided	2019-01-29	criteria provided, single submitter	clinical testing
Invitae	RCV000952521	SCV001099033	benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001155317	SCV001316739	likely benign	Usher syndrome type 2C	2018-01-12	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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
CeGaT Center for Human Genetics Tuebingen	RCV000952521	SCV004159115	benign	not provided	2022-07-01	criteria provided, single submitter	clinical testing	ADGRV1: BP4, BS1, BS2