ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.1524T>C (p.Ser508=)

gnomAD frequency: 0.00003  dbSNP: rs752370780
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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 RCV002138171 SCV002457490 likely benign Pitt-Hopkins syndrome 2022-11-28 criteria provided, single submitter clinical testing

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