ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.9240C>A (p.Phe3080Leu) (rs397518044)

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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 RCV000041943 SCV000065639 uncertain significance not specified 2010-04-28 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Pathogenic.
Counsyl RCV000667786 SCV000792290 uncertain significance Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-06-20 criteria provided, single submitter clinical testing

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