ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.11954G>A (p.Trp3985Ter) (rs397517976)

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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 RCV000041710 SCV000065406 pathogenic Rare genetic deafness 2011-06-21 criteria provided, single submitter clinical testing The Trp3985X variant in USH2A has not been reported in the literature nor previo usly identified by our laboratory. The Trp3985X variant leads to a premature sto p codon at position 3985, which is predicted to lead to a truncated or absent pr otein. In summary, this variant meets our criteria to be classified as pathogeni c.
Counsyl RCV000669396 SCV000794144 likely pathogenic Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-09-15 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001075329 SCV001240947 likely pathogenic Retinal dystrophy 2018-02-20 criteria provided, single submitter clinical testing

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