ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.1801C>A (p.Pro601Thr)

dbSNP: rs727503710
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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 RCV000152546 SCV000201757 uncertain significance not specified 2014-06-24 criteria provided, single submitter clinical testing The Pro601Thr variant in USH1C has not been previously reported in individuals w ith hearing loss. Data from large population studies is insufficient to assess t he frequency of this variant. Computational prediction tools and conservation an alyses do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the Pro601Thr variant is uncertain.
Invitae RCV000915897 SCV001061120 likely benign not provided 2021-03-22 criteria provided, single submitter clinical testing

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