ClinVar Miner

Submissions for variant NM_018684.4(ZC4H2):c.170A>C (p.Gln57Pro)

dbSNP: rs1929211117
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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 RCV001197131 SCV001367767 uncertain significance Wieacker-Wolff syndrome 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,PP2,PP3. This variant was detected in hemizygous state.

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