ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.2341G>A (p.Val781Ile) (rs397517875)

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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 RCV000041274 SCV000064965 uncertain significance not specified 2011-03-08 criteria provided, single submitter clinical testing The Val781Ile variant in USH1C has not been reported in the literature nor previ ously identified by our laboratory. Computational analyses (biochemical amino ac id properties, homology, PolyPhen2, SIFT, AlignGVGD) do not provide strong suppo rt for or against pathogenicity. In summary, the clinical significance of this v ariant cannot be determined with certainty at this time.
Counsyl RCV000668855 SCV000793528 uncertain significance Usher syndrome, type 1C; Deafness, autosomal recessive 18 2017-08-24 criteria provided, single submitter clinical testing

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