ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.478G>A (p.Gly160Ser) (rs111033479)

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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 RCV000041848 SCV000065544 benign not specified 2016-12-22 criteria provided, single submitter clinical testing p.Gly160Ser in exon 2 of USH2A: This variant is not expected to have clinical si gnificance because it has been identified in 0.8% (85/10406) of African chromoso mes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; d bSNP rs111033479).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000041848 SCV000227597 likely benign not specified 2014-09-03 criteria provided, single submitter clinical testing
GeneDx RCV000041848 SCV000515231 likely benign not specified 2017-06-01 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 RCV000881175 SCV001024329 likely benign not provided 2019-02-18 criteria provided, single submitter clinical testing

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