ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.414C>G (p.Thr138=)

gnomAD frequency: 0.00017  dbSNP: rs201061418
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001423728 SCV001626310 likely benign Pitt-Hopkins syndrome 2023-12-22 criteria provided, single submitter clinical testing

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