ClinVar Miner

Submissions for variant NM_000883.4(IMPDH1):c.942G>T (p.Lys314Asn)

dbSNP: rs1798090540
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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 RCV001198071 SCV001368856 uncertain significance Leber congenital amaurosis 11 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The following ACMG criteria were applied in classifying this variant: PM2,PP3.

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