Submissions for variant NM_032119.4(ADGRV1):c.5525-7C>T

gnomAD frequency: 0.00429  dbSNP: rs137853919

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000039593	SCV000063282	benign	not specified	2012-04-30	criteria provided, single submitter	clinical testing	5525-7C>T in intron 26 of GPR98: This variant is not expected to have clinical s ignificance because it has been identified in 0.8% (53/6588) of European America n chromosomes from a broad population by the NHLBI Exome sequencing project (htt p://evs.gs.washington.edu/EVS/; rs141528121).
Genetic Services Laboratory, University of Chicago	RCV000039593	SCV000193270	likely benign	not specified	2013-10-01	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000039593	SCV000228480	benign	not specified	2015-01-23	criteria provided, single submitter	clinical testing
Invitae	RCV000086996	SCV001099780	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001156879	SCV001318415	likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
GeneDx	RCV000086996	SCV001758937	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000039593	SCV001880708	benign	not specified	2021-03-16	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002477113	SCV002795813	likely benign	Usher syndrome type 2C; Febrile seizures, familial, 4	2022-04-13	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000086996	SCV002821301	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	ADGRV1: BP4, BS2
PreventionGenetics, part of Exact Sciences	RCV003974898	SCV004792280	benign	ADGRV1-related condition	2019-06-20	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
NEI Ophthalmic Genomics Laboratory, National Institutes of Health	RCV000086996	SCV000119249	not provided	not provided		no assertion provided	not provided
Clinical Genetics, Academic Medical Center	RCV000086996	SCV001925325	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000039593	SCV001927653	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000086996	SCV001976073	likely benign	not provided		no assertion criteria provided	clinical testing