ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.802G>A (p.Gly268Arg) (rs111033280)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000675158 SCV000800775 likely pathogenic Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-06-29 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000041918 SCV000065614 pathogenic Usher syndrome 2019-02-07 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory

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