ClinVar Miner

Submissions for variant NM_014014.5(SNRNP200):c.338A>G (p.Tyr113Cys)

dbSNP: rs2063964181
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001073794 SCV001239356 uncertain significance Retinal dystrophy 2018-03-01 criteria provided, single submitter clinical testing

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