Submissions for variant NM_001083962.2(TCF4):c.1245T>C (p.His415=)

gnomAD frequency: 0.00006  dbSNP: rs148909575

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000724844	SCV000226241	uncertain significance	not provided	2015-05-28	criteria provided, single submitter	clinical testing
GeneDx	RCV000174858	SCV000514870	likely benign	not specified	2015-10-19	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics	RCV002390426	SCV002675179	likely benign	Inborn genetic diseases	2017-09-06	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.
Invitae	RCV002517681	SCV003504129	likely benign	Pitt-Hopkins syndrome	2023-03-15	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003895184	SCV004712665	likely benign	TCF4-related disorder	2022-06-20	criteria provided, single submitter	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).