Submissions for variant NM_032119.4(ADGRV1):c.10796G>C (p.Gly3599Ala)

gnomAD frequency: 0.00394  dbSNP: rs145294917

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000150771	SCV000198263	benign	not specified	2012-04-30	criteria provided, single submitter	clinical testing	Gly3599Ala in Exon 52 of GPR98: This variant is not expected to have clinical si gnificance because it has been identified in 1.4% (40/2958) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs145294917).
GeneDx	RCV000766759	SCV000589906	benign	not provided	2019-12-04	criteria provided, single submitter	clinical testing
Invitae	RCV000766759	SCV001112181	benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003952714	SCV004772611	benign	ADGRV1-related condition	2019-07-24	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	RCV000150771	SCV001924977	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000766759	SCV001927973	likely benign	not provided		no assertion criteria provided	clinical testing