ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.10769C>T (p.Pro3590Leu) (rs115403785)

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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 RCV000041679 SCV000065375 likely benign not specified 2010-04-13 criteria provided, single submitter clinical testing Pro3590Leu in exon 55 of USH2A: This variant is not expected to have clinical si gnificance because Pro3590 is not conserved among closely related species with R at having a Leucine (Leu) at this position. In addition, this variant was found occur at an equal frequency between probands and a control population (Dreyer 20 08).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000513386 SCV000340203 uncertain significance not provided 2016-03-22 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000513386 SCV000608519 uncertain significance not provided 2017-07-01 criteria provided, single submitter clinical testing

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