ClinVar Miner

Submissions for variant NM_016032.4(ZDHHC9):c.442C>T (p.Arg148Trp) (rs137852214)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV001091717 SCV001247910 pathogenic not provided 2020-06-01 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001197117 SCV001367753 likely pathogenic Cerebellar ataxia; Motor delay; Nystagmus 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PS1,PM2. This variant was detected in heterozygous state.
OMIM RCV000011457 SCV000031689 pathogenic Mental retardation, X-linked, syndromic, Raymond type 2007-05-01 no assertion criteria provided literature only

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