ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.14515C>G (p.Gln4839Glu) (rs79464236)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000039527 SCV000063216 benign not specified 2012-05-07 criteria provided, single submitter clinical testing Gln4839Glu in Exon 70 of GPR98: This variant is not expected to have clinical si gnificance because it has been identified in 4.2% (5/120) of chromosomes from a population in the dbSNP database (http://www.ncbi.nlm.nih.gov/projects/SNP; rs79 464236).
GeneDx RCV000039527 SCV000168727 benign not specified 2013-05-20 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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000039527 SCV000703883 benign not specified 2016-12-27 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710432 SCV000840648 benign not provided 2018-01-23 criteria provided, single submitter clinical testing
Invitae RCV000710432 SCV001038746 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000039527 SCV001159069 benign not specified 2019-05-30 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001152055 SCV001313259 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.
Genetic Services Laboratory, University of Chicago RCV000039527 SCV000193240 likely benign not specified no assertion criteria provided clinical testing

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