ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.3309C>A (p.Tyr1103Ter) (rs397518011)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000824791 SCV000065521 pathogenic Rare genetic deafness 2012-03-13 criteria provided, single submitter clinical testing The Tyr1103X variant in USH2A has not been reported in the literature nor previo usly identified by our laboratory. This nonsense variant leads to a premature te rmination codon at position 1103, which is predicted to lead to a truncated or a bsent protein. In summary, this variant meets our criteria to be classified as p athogenic (http://pcpgm.partners.org/LMM).
Counsyl RCV000669871 SCV000794664 pathogenic Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-10-10 criteria provided, single submitter clinical testing
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital RCV000041825 SCV000902402 pathogenic Usher syndrome, type 2A 2019-02-26 no assertion criteria provided case-control

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