Submissions for variant NM_032119.4(ADGRV1):c.1839+7G>A

gnomAD frequency: 0.00957  dbSNP: rs142011700

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000039553	SCV000063242	benign	not specified	2012-03-26	criteria provided, single submitter	clinical testing	c.1839+7G>A in intron 9 of GPR98: This variant is not expected to have clinical significance because it has been identified in 2.8% (82/2974) of African America n chromosomes in a broad population by the NHLBI Exome sequencing project (http: //evs.gs.washington.edu/EVS/; rs142011700).
Genetic Services Laboratory, University of Chicago	RCV000039553	SCV000193251	likely benign	not specified	2013-08-27	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000514703	SCV000609939	likely benign	not provided	2017-02-22	criteria provided, single submitter	clinical testing
GeneDx	RCV000039553	SCV000728516	benign	not specified	2017-11-06	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.
Invitae	RCV000514703	SCV001026465	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001152889	SCV001314127	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000514703	SCV003799873	benign	not provided	2023-09-21	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000039553	SCV001919970	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000039553	SCV001926978	benign	not specified		no assertion criteria provided	clinical testing