ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.1185T>C (p.Asp395=)

gnomAD frequency: 0.00001  dbSNP: rs1341306301
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000501013 SCV000597413 likely benign not specified 2017-01-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001424709 SCV001627309 likely benign Pitt-Hopkins syndrome 2023-01-30 criteria provided, single submitter clinical testing
GeneDx RCV001653864 SCV001863313 likely benign not provided 2019-11-14 criteria provided, single submitter clinical testing

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