ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.1577C>T (p.Thr526Met)

gnomAD frequency: 0.00051  dbSNP: rs202025804
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001698457 SCV000727618 likely benign not provided 2020-11-11 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000615986 SCV001475672 benign not specified 2020-08-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002066601 SCV002485278 benign Pitt-Hopkins syndrome 2024-03-01 criteria provided, single submitter clinical testing

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