ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.6998T>C (p.Val2333Ala)

gnomAD frequency: 0.00020  dbSNP: rs144817385
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Total submissions: 7
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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 RCV000600278 SCV000731801 likely benign not specified 2017-08-30 criteria provided, single submitter clinical testing p.Val233Ala in exon 37 of USH2A: This variant is not expected to have clinical s ignificance because it has been identified in 0.46% (87/18850) of East Asian chr omosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitut e.org/; dbSNP rs144817385).
Labcorp Genetics (formerly Invitae), Labcorp RCV000907403 SCV001052106 likely benign not provided 2025-01-29 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001075375 SCV001240996 uncertain significance Retinal dystrophy 2018-06-12 criteria provided, single submitter clinical testing
GeneDx RCV000907403 SCV001781721 uncertain significance not provided 2021-08-05 criteria provided, single submitter clinical testing Identified with other USH2A variants in individuals with hearing loss and/or retinitis pigmentosa in published literature (Sun et al., 2018; Ng et al., 2019; Xu et al., 2014; Yuan Y et al., 2020); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 31541171, 31054281, 29625443, 24938718, 30948794)
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV001075375 SCV005071180 uncertain significance Retinal dystrophy 2019-01-01 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000907403 SCV002036442 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000907403 SCV002037815 uncertain significance not provided no assertion criteria provided clinical testing

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