ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.1218C>T (p.Gly406=)

gnomAD frequency: 0.00002  dbSNP: rs201481787
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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 RCV001467961 SCV001671993 likely benign Pitt-Hopkins syndrome 2022-07-20 criteria provided, single submitter clinical testing

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