Submissions for variant NM_032119.4(ADGRV1):c.7813T>G (p.Leu2605Val)

gnomAD frequency: 0.01674  dbSNP: rs79915053

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000039636	SCV000063325	benign	not specified	2011-07-07	criteria provided, single submitter	clinical testing	Leu2605Val in exon 33 of GPR98: This variant is not expected to have clinical si gnificance because this variant has been identified in 14/168 (8.3%) of West Afr ican chromosomes (rs79915053). In addition, the Leu2605 residue is not conserved in mammals or lower species and computational analyses do not predict a high li kelihood of clinical significance.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000224768	SCV000281609	benign	not provided	2015-05-21	criteria provided, single submitter	clinical testing
GeneDx	RCV000039636	SCV000517833	benign	not specified	2016-10-27	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.
Invitae	RCV000224768	SCV001093017	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001157102	SCV001318648	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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Genetic Services Laboratory, University of Chicago	RCV000039636	SCV000193290	likely benign	not specified		no assertion criteria provided	clinical testing