ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.4070C>T (p.Thr1357Met) (rs201190539)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665126 SCV000789192 uncertain significance Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-01-19 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000665126 SCV000896272 uncertain significance Usher syndrome, type 2A; Retinitis pigmentosa 39 2018-10-31 criteria provided, single submitter clinical testing

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