ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.507G>A (p.Gln169=)

gnomAD frequency: 0.00001  dbSNP: rs764947898
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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 RCV001450118 SCV001653715 likely benign Pitt-Hopkins syndrome 2020-04-06 criteria provided, single submitter clinical testing

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