ClinVar Miner

Submissions for variant NM_000883.4(IMPDH1):c.290A>G (p.Tyr97Cys)

dbSNP: rs1798694612
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001197484 SCV001368250 uncertain significance Leber congenital amaurosis 11 2019-07-10 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM2,PP3.

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