ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.1351-19G>A

gnomAD frequency: 0.00162  dbSNP: rs200963418
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000128384 SCV000171980 benign not specified 2013-04-03 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
CeGaT Center for Human Genetics Tuebingen RCV002292475 SCV002585685 benign not provided 2022-09-01 criteria provided, single submitter clinical testing TCF4: BS1, BS2
Invitae RCV002515920 SCV002948447 benign Pitt-Hopkins syndrome 2024-01-30 criteria provided, single submitter clinical testing
Institute of Human Genetics, University Hospital Muenster RCV003231159 SCV003929466 likely benign See cases 2023-03-13 criteria provided, single submitter clinical testing ACMG categories: BS2,BP6

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