ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.3956G>A (p.Arg1319Gln) (rs73181648)

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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 RCV000155104 SCV000204790 benign not specified 2012-04-30 criteria provided, single submitter clinical testing Arg1319Gln in Exon 20 of GPR98: This variant is not expected to have clinical si gnificance because it has been identified in 1.1% (36/3232) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs73181648).
Genetic Services Laboratory,University of Chicago RCV000155104 SCV000247504 likely benign not specified 2015-04-03 criteria provided, single submitter clinical testing
Invitae RCV000880239 SCV001023319 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001155122 SCV001316531 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.

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