ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.16164A>G (p.Arg5388=) (rs41304884)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000039539 SCV000063228 benign not specified 2012-04-30 criteria provided, single submitter clinical testing Arg5388Arg in exon 75 of GPR98: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, has been identified in 0.2% (13/6503) of Europe an American chromosomes and 0.8% (27/3116) of African American chromosomes from a broad population by the NHLBI Exome sequencing project (http://evs.gs.washingt on.edu/EVS/; dbSNP rs41304884), and is reported as benign (Le Quesne Stabel 201 2).
GeneDx RCV000039539 SCV000168730 benign not specified 2013-04-10 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.
Genetic Services Laboratory, University of Chicago RCV000039539 SCV000193243 benign not specified 2013-08-27 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001157631 SCV001319220 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.

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