ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.12877G>A (p.Gly4293Ser) (rs727505117)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000156572 SCV000206291 uncertain significance not specified 2014-08-08 criteria provided, single submitter clinical testing The Gly4293Ser variant in USH2A has not been previously reported in individuals with hearing loss, and was absent from large population studies. Computational p rediction tools and conservation analyses suggest that the Gly4293Ser variant ma y impact the protein, though this information is not predictive enough to determ ine pathogenicity. In summary, the clinical significance of the Gly4293Ser varia nt is uncertain.
Counsyl RCV000671448 SCV000796424 uncertain significance Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-12-14 criteria provided, single submitter clinical testing

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