Submissions for variant NM_001083962.2(TCF4):c.1545C>T (p.Ser515=)

gnomAD frequency: 0.00012  dbSNP: rs777418647

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001703504	SCV000514871	likely benign	not provided	2020-11-20	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000867355	SCV001008568	likely benign	Pitt-Hopkins syndrome	2023-12-18	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002402129	SCV002709312	likely benign	Inborn genetic diseases	2017-11-02	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences	RCV003972581	SCV004795704	likely benign	TCF4-related disorder	2023-04-25	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).