Submissions for variant NM_032119.4(ADGRV1):c.7874G>A (p.Arg2625His)

gnomAD frequency: 0.00187  dbSNP: rs201214794

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000039637	SCV000063326	benign	not specified	2017-12-05	criteria provided, single submitter	clinical testing	p.Arg2625His in exon 33 of ADGRV1: This variant is not expected to have clinical significance because it has been identified in 3% (300/10076) of Ashkenazi Jewi sh chromosomes including 1 homozygote by the Genome Aggregation Database (gnomAD , http://gnomad.broadinstitute.org; dbSNP rs201214794).
Eurofins Ntd Llc (ga)	RCV000039637	SCV000229674	likely benign	not specified	2015-02-09	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000434012	SCV000511770	likely benign	not provided	2016-09-15	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
GeneDx	RCV000434012	SCV000717875	benign	not provided	2019-02-25	criteria provided, single submitter	clinical testing
Invitae	RCV000434012	SCV001117428	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001157106	SCV001318652	uncertain significance	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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Clinical Genetics, Academic Medical Center	RCV000039637	SCV001919046	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000434012	SCV001932092	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000434012	SCV001968457	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000434012	SCV002037058	likely benign	not provided		no assertion criteria provided	clinical testing