ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.10904C>A (p.Thr3635Asn) (rs727505166)

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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 RCV000156642 SCV000206363 uncertain significance not specified 2014-06-27 criteria provided, single submitter clinical testing The Thr3635Asn variant in USH2A has been previously reported in one Japanese ind ividual with hearing loss; however the variant was also identified in 1/144 race matched control chromosomes and a second variant affecting the remaining copy o f USH2A was not identified (Miyagawa 2013). Computational prediction tools and c onservation analyses do not provide strong support for or against an impact to t he protein. In summary, the clinical significance of the Thr3635Asn variant is u ncertain.
Fulgent Genetics,Fulgent Genetics RCV000763828 SCV000894746 uncertain significance Usher syndrome, type 2A; Retinitis pigmentosa 39 2018-10-31 criteria provided, single submitter clinical testing

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