ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.13202G>T (p.Gly4401Val)

dbSNP: rs763576540
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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, Mass General Brigham Personalized Medicine RCV000616738 SCV000712596 uncertain significance not specified 2016-12-06 criteria provided, single submitter clinical testing The p.Gly4401Val variant in USH2A has not been previously reported in individual s with hearing loss or in large population studies. Computational prediction too ls and conservation analysis suggest that the p.Gly4401Val variant may impact th e protein, though this information is not predictive enough to determine pathoge nicity. In summary, the clinical significance of the p.Gly4401Val variant is unc ertain.
Natera, Inc. RCV001835877 SCV002088274 uncertain significance Usher syndrome type 2A 2021-09-10 no assertion criteria provided clinical testing

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