ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.1146+1G>A

dbSNP: rs587784458
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000147712 SCV000195174 pathogenic Pitt-Hopkins syndrome 2013-02-08 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000147712 SCV001368088 pathogenic Pitt-Hopkins syndrome 2019-04-04 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.
Pediatric Genetics Clinic, Sheba Medical Center RCV000147712 SCV001712238 pathogenic Pitt-Hopkins syndrome 2021-05-13 no assertion criteria provided clinical testing

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