ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.581C>A (p.Pro194His) (rs61745498)

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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 RCV000039597 SCV000063286 benign not specified 2012-05-07 criteria provided, single submitter clinical testing Pro194His in Exon 06 of GPR98: This variant is not expected to have clinical sig nificance because it has been identified in 5.7% (175/3054) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs61745498).
GeneDx RCV000039597 SCV000168737 benign not specified 2014-03-21 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.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001281901 SCV000602444 benign none provided 2019-09-12 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710453 SCV000840675 benign not provided 2018-04-11 criteria provided, single submitter clinical testing
Invitae RCV000710453 SCV001099032 benign not provided 2020-11-25 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001154051 SCV001315371 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Genetic Services Laboratory, University of Chicago RCV000039597 SCV000193274 likely benign not specified no assertion criteria provided clinical testing

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