Submissions for variant NM_001083962.2(TCF4):c.*3404G>C

gnomAD frequency: 0.00153  dbSNP: rs550785276

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000386770	SCV000409477	benign	Pitt-Hopkins syndrome	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
CeGaT Center for Human Genetics Tuebingen	RCV003422296	SCV004143128	likely benign	not provided	2023-07-01	criteria provided, single submitter	clinical testing	TCF4: BS1
Breakthrough Genomics, Breakthrough Genomics	RCV003422296	SCV005250848	benign	not provided		criteria provided, single submitter	not provided