ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.789+23C>T

gnomAD frequency: 0.53241  dbSNP: rs1788027
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000829619 SCV000971349 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 RCV001815205 SCV002062272 benign Corneal dystrophy, Fuchs endothelial, 3 2021-07-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001815204 SCV002062273 benign Pitt-Hopkins syndrome 2021-07-15 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000147727 SCV000195192 likely benign not specified no assertion criteria provided clinical testing

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