ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.10724G>A (p.Cys3575Tyr) (rs111033265)

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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 RCV000041677 SCV000065373 likely pathogenic Rare genetic deafness 2011-10-17 criteria provided, single submitter clinical testing The Cys3575Tyr variant in USH2A has been reported in two French Canadian proband s with Usher syndrome type II (Dubois 2005) and has been identified in one proba nd by our laboratory. In all probands, the variant was seen in the compound hete rozygous state with another pathogenic USH2A variant or in the homozygous state. In summary, this variant is likely to be pathogenic.
Blueprint Genetics RCV001073926 SCV001239491 pathogenic Retinal dystrophy 2018-06-29 criteria provided, single submitter clinical testing

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