ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.7079G>A (p.Arg2360His) (rs111033470)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000039617 SCV000063306 benign not specified 2016-02-21 criteria provided, single submitter clinical testing p.Arg2360His in exon 32 of GPR98: This variant is not expected to have clinical significance because it has been identified in 3% (269/7900) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS; dbSNP rs111033470).
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224147 SCV000281369 benign not provided 2015-06-04 criteria provided, single submitter clinical testing
GeneDx RCV000224147 SCV000728526 benign not provided 2018-10-09 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000224147 SCV000840678 benign not provided 2018-01-25 criteria provided, single submitter clinical testing
Invitae RCV000224147 SCV001114316 benign not provided 2020-11-17 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001151575 SCV001312709 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.
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000224147 SCV001930631 likely benign not provided no assertion criteria provided clinical testing

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