ClinVar Miner

Submissions for variant NM_000193.4(SHH):c.593G>A (p.Cys198Tyr)

dbSNP: rs1803267843
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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 RCV001197811 SCV001368590 pathogenic Schizencephaly 2018-10-01 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PS1,PM1,PM2,PM5,PP2,PP3.

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