ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.1906C>T (p.Arg636Cys) (rs149510892)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041262 SCV000064953 benign not specified 2012-05-16 criteria provided, single submitter clinical testing Arg636Cys in Exon 18 of USH1C: This variant has been reported in one individual with prelingual severe to profound deafness with no vision abnormalities (Ouyang 2002). However, this variant is not expected to have clinical significance beca use it has been identified in 0.5% (20/3738) of African American chromosomes fro m a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washin gton.edu/EVS; dbSNP rs149510892). In addition, this variant has been identified by our laboratory in a proband who carried two pathogenic variants in another ge ne.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000725958 SCV000340855 uncertain significance not provided 2016-05-03 criteria provided, single submitter clinical testing
Invitae RCV000725958 SCV001027288 benign not provided 2020-11-21 criteria provided, single submitter clinical testing

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