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: 5
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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
Breakthrough Genomics, Breakthrough Genomics RCV000834287 SCV005250874 benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000147721 SCV000195186 likely benign not specified no assertion criteria provided clinical testing

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