ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.576C>T (p.Ala192=)

dbSNP: rs143993583
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704355 SCV000528594 likely benign not provided 2020-08-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001424252 SCV001626846 likely benign Pitt-Hopkins syndrome 2024-01-22 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001821191 SCV002068236 likely benign not specified 2017-12-21 criteria provided, single submitter clinical testing

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