ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.8937A>G (p.Val2979=) (rs139100097)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756883 SCV000884850 benign not provided 2017-05-26 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000152591 SCV000339955 benign not specified 2016-04-08 criteria provided, single submitter clinical testing
GeneDx RCV000152591 SCV000714995 likely benign not specified 2017-01-06 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.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000152591 SCV000201861 benign not specified 2012-04-30 criteria provided, single submitter clinical testing Val2979Val in Exon 45 of USH2A: 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, and has been identified in 0.9% (33/3738) of Af rican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs139100097).
PreventionGenetics RCV000152591 SCV000317215 benign not specified criteria provided, single submitter clinical testing

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