Submissions for variant NM_032119.4(ADGRV1):c.11599G>A (p.Glu3867Lys)

gnomAD frequency: 0.27574  dbSNP: rs10062026

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000039513	SCV000063202	benign	not specified	2010-03-23	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000039513	SCV000314850	benign	not specified		criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000039513	SCV000331610	benign	not specified	2015-11-22	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001151870	SCV001313044	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.
Invitae	RCV001517000	SCV001725384	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001517000	SCV001898300	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000039513	SCV000193229	likely benign	not specified		no assertion criteria provided	clinical testing