ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.18475A>G (p.Met6159Val) (rs77469944)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000039554 SCV000063243 benign not specified 2012-04-27 criteria provided, single submitter clinical testing Met6159Val in exon 88 of GPR98: This variant is not expected to have clinical si gnificance because it has been identified in 11% (347/3046) of African American chromosomes from a broad population by the NHLBI Exome sequencing project (http: //evs.gs.washington.edu/EVS/; dbSNP rs77469944).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000039554 SCV000232875 benign not specified 2015-05-15 criteria provided, single submitter clinical testing
GeneDx RCV000039554 SCV000513187 benign not specified 2015-07-02 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 RCV000039554 SCV001158887 benign not specified 2018-09-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001152266 SCV001313478 benign Usher syndrome, type 2C 2018-01-12 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 RCV000039554 SCV000193252 likely benign not specified no assertion criteria provided clinical testing

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