ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.9258+3T>C (rs1553268427)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000506987 SCV000605554 likely benign not specified 2017-05-31 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000506987 SCV001365576 uncertain significance not specified 2019-05-10 criteria provided, single submitter clinical testing The c.9258+3T>C variant in USH2A has not been previously reported in individuals with hearing loss or Usher syndrome and was absent from large population studies. This variant has been reported in ClinVar (Variation ID 440398). This variant is located in the 5' splice region. Computational tools do not predict a splicing impact, though this information is not predictive enough to rule out pathogenicity. In summary, the clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: PM2, BP4.

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