ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.726G>A (p.Leu242=)

dbSNP: rs765833827
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000192642 SCV000249134 uncertain significance not specified 2015-05-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002054282 SCV002453979 likely benign Pitt-Hopkins syndrome 2021-03-13 criteria provided, single submitter clinical testing

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