ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.1317C>T (p.Thr439=)

gnomAD frequency: 0.00003  dbSNP: rs200112082
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001719058 SCV000728088 likely benign not provided 2019-05-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000867187 SCV001008385 likely benign Pitt-Hopkins syndrome 2023-12-30 criteria provided, single submitter clinical testing

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