ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.420G>A (p.Ser140=)

gnomAD frequency: 0.00001  dbSNP: rs763742755
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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 RCV000193197 SCV000249132 uncertain significance not specified 2015-06-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001437135 SCV001639982 likely benign Pitt-Hopkins syndrome 2023-02-16 criteria provided, single submitter clinical testing

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