ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.1248G>A (p.Gly416=)

gnomAD frequency: 0.00001  dbSNP: rs1325223617
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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 RCV002164885 SCV002333547 likely benign Pitt-Hopkins syndrome 2023-05-01 criteria provided, single submitter clinical testing

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