ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.305-165C>T

gnomAD frequency: 0.15868  dbSNP: rs17522826
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000834287 SCV000976055 benign not provided 2018-06-14 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.
Genome-Nilou Lab RCV001815203 SCV002062274 benign Corneal dystrophy, Fuchs endothelial, 3 2021-07-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001815202 SCV002062275 benign Pitt-Hopkins syndrome 2021-07-15 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000147721 SCV000195186 likely benign not specified no assertion criteria provided clinical testing

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