ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.9771C>T (p.Ser3257=) (rs16869039)

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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 RCV000039664 SCV000063353 benign not specified 2014-07-16 criteria provided, single submitter clinical testing Ser3257Ser in exon 46 is not expected to have clinical significance because it d oes not alter an amino acid residue and it has been identified in 9% (249/2924) of African American Chromosomes by the NHLBI Exome Sequencing Project (http://ev s.gs.washington.edu/EVS/
GeneDx RCV000039664 SCV000513183 benign not specified 2015-10-08 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.
Athena Diagnostics Inc RCV000710470 SCV000840699 benign not provided 2017-09-26 criteria provided, single submitter clinical testing
Invitae RCV000710470 SCV001122948 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001151758 SCV001312925 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 RCV000039664 SCV000193300 likely benign not specified no assertion criteria provided clinical testing

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