ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.6236A>C (p.Lys2079Thr) (rs147039836)

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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 RCV000217122 SCV000269949 benign not specified 2012-04-30 criteria provided, single submitter clinical testing Lys2079Thr in Exon 32 of USH2A: This variant is not expected to have clinical si gnificance because it has been identified in 0.8% (31/3738) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs147039836).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000217122 SCV000706376 benign not specified 2017-02-27 criteria provided, single submitter clinical testing
GeneDx RCV000842299 SCV000984307 benign not provided 2018-04-28 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.
Invitae RCV000842299 SCV001055286 benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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