Submissions for variant NM_032119.4(ADGRV1):c.2553+11T>A

gnomAD frequency: 0.00580  dbSNP: rs73181640

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000039563	SCV000063252	benign	not specified	2012-04-30	criteria provided, single submitter	clinical testing	2553+11T>A in Intron 13 of GPR98: This variant is not expected to have clinical significance because it is not located within the conserved splice consensus seq uence and has been identified in 1.5% (43/2906) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.was hington.edu/EVS; dbSNP rs73181640).
GeneDx	RCV000039563	SCV000168743	benign	not specified	2013-04-30	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.
Eurofins Ntd Llc (ga)	RCV000039563	SCV000709299	benign	not specified	2017-06-13	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001155011	SCV001316411	likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Invitae	RCV001513209	SCV001720778	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001513209	SCV004564859	benign	not provided	2023-09-06	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000039563	SCV001743110	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001513209	SCV001929128	likely benign	not provided		no assertion criteria provided	clinical testing