ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.1859G>T (p.Arg620Leu) (rs139996942)

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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 RCV000152545 SCV000201756 benign not specified 2012-05-07 criteria provided, single submitter clinical testing Arg620Leu in Exon 18 of USH1C: This variant is not expected to have clinical sig nificance because it has been identified in 2.9% (110/3738) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //; dbSNP rs139996942).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000152545 SCV000338407 benign not specified 2016-01-20 criteria provided, single submitter clinical testing
GeneDx RCV000152545 SCV000730519 benign not specified 2017-03-27 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 RCV000892650 SCV001036541 benign not provided 2020-12-04 criteria provided, single submitter clinical testing

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