ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.1659C>T (p.Asp553=)

gnomAD frequency: 0.00003  dbSNP: rs755688939
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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 RCV001404369 SCV001606268 likely benign Pitt-Hopkins syndrome 2023-02-03 criteria provided, single submitter clinical testing

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