Submissions for variant NM_032119.4(ADGRV1):c.8088G>A (p.Leu2696=)

gnomAD frequency: 0.00178  dbSNP: rs373069459

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000150764	SCV000198241	benign	not specified	2012-04-30	criteria provided, single submitter	clinical testing	Leu2696Leu in Exon 34 of GPR98: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 0.6% (20/3106) of Af rican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS).
Eurofins Ntd Llc (ga)	RCV000150764	SCV000334114	likely benign	not specified	2015-08-10	criteria provided, single submitter	clinical testing
GeneDx	RCV000710463	SCV000714339	benign	not provided	2019-03-14	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000710463	SCV000840688	likely benign	not provided	2018-05-01	criteria provided, single submitter	clinical testing
Invitae	RCV000710463	SCV001056121	benign	not provided	2024-01-27	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003907420	SCV004720109	likely benign	ADGRV1-related condition	2019-08-30	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).