Submissions for variant NM_032119.4(ADGRV1):c.7576A>G (p.Ile2526Val)

gnomAD frequency: 0.01965  dbSNP: rs75191159

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000039632	SCV000168711	benign	not specified	2013-06-06	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.
PreventionGenetics, part of Exact Sciences	RCV000039632	SCV000314876	benign	not specified		criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000710460	SCV000840685	benign	not provided	2017-12-14	criteria provided, single submitter	clinical testing
Invitae	RCV000710460	SCV001103048	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000710460	SCV001159039	benign	not provided	2023-10-16	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001155422	SCV001316848	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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000039632	SCV000063321	benign	not specified	2009-11-24	no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000710460	SCV001797365	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000710460	SCV001928125	likely benign	not provided		no assertion criteria provided	clinical testing