ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.7874G>A (p.Arg2625His) (rs201214794)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare 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 ,; dbSNP rs201214794).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 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 2020-12-04 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.