ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.17205-10T>G

dbSNP: rs876657821
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Total submissions: 1
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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 RCV000218894 SCV000271813 uncertain significance not specified 2015-11-25 criteria provided, single submitter clinical testing The c.17205-10T>G variant in GPR98 has not been previously reported in individua ls with hearing loss or Usher syndrome and was absent from large population stud ies. This variant is located in the 3' splice region. Computational tools do not suggest an impact to splicing; however, this information is not predictive enou gh to rule out pathogenicity. In summary, the clinical significance of the c.172 05-10T>G variant is uncertain.

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