Submissions for variant NM_001378418.1(TCF20):c.1029A>C (p.Gln343His)

gnomAD frequency: 0.00026  dbSNP: rs150925429

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002038763	SCV002309404	benign	not provided	2023-02-19	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004044809	SCV004963217	likely benign	Inborn genetic diseases	2024-02-06	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.
Breakthrough Genomics, Breakthrough Genomics	RCV002038763	SCV005194502	uncertain significance	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV003968691	SCV004785917	likely benign	TCF20-related disorder	2023-03-13	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).