ClinVar Miner

Submissions for variant NM_016032.4(ZDHHC9):c.852dup (p.Glu285Ter)

dbSNP: rs1927638009
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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 RCV001199032 SCV001370027 likely pathogenic Syndromic X-linked intellectual disability Raymond type 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2. This variant was detected in hemizygous state.

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