ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.2191C>T (p.Arg731Trp) (rs397517874)

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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 RCV000041269 SCV000064960 uncertain significance not specified 2012-03-26 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Arg731Trp varia nt in USH1C has not been reported in the literature nor previously identified by our laboratory. Computational analyses (biochemical amino acid properties, cons ervation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or a gainst an impact to the protein. In summary, the clinical significance of this v ariant cannot be determined with certainty.
Counsyl RCV000669240 SCV000793972 uncertain significance Usher syndrome, type 1C; Deafness, autosomal recessive 18 2017-09-05 criteria provided, single submitter clinical testing

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