ClinVar Miner

Submissions for variant NM_018684.4(ZC4H2):c.576del (p.His193fs)

dbSNP: rs1929007323
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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 RCV001195861 SCV001366285 pathogenic Wieacker-Wolff syndrome 2020-01-28 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2,PM6.

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