ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.10769C>T (p.Pro3590Leu)

gnomAD frequency: 0.00058  dbSNP: rs115403785
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham 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).
Eurofins Ntd Llc (ga) RCV000513386 SCV000340203 uncertain significance not provided 2016-03-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000513386 SCV000608519 uncertain significance not provided 2017-07-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000513386 SCV001197479 likely benign not provided 2024-01-30 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001197373 SCV001368093 uncertain significance Usher syndrome type 2A 2019-04-30 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The following ACMG criteria were applied in classifying this variant: PP3.
GeneDx RCV000513386 SCV001828195 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Natera, Inc. RCV001197373 SCV001459531 likely benign Usher syndrome type 2A 2020-05-03 no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000513386 SCV001921762 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000041679 SCV001957003 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000513386 SCV001971980 likely benign not provided no assertion criteria provided clinical testing

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