ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.1419G>C (p.Pro473=) (rs143944746)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000173028 SCV000111336 benign not specified 2015-03-12 criteria provided, single submitter clinical testing
GeneDx RCV000173028 SCV000171981 benign not specified 2013-12-26 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.
Genetic Services Laboratory, University of Chicago RCV000173028 SCV000195177 benign not specified 2015-08-10 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000341338 SCV000409528 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.
Athena Diagnostics Inc RCV000173028 SCV000615762 benign not specified 2020-12-15 criteria provided, single submitter clinical testing
Invitae RCV000341338 SCV000646109 benign Pitt-Hopkins syndrome 2020-11-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716833 SCV000847677 likely benign History of neurodevelopmental disorder 2016-03-16 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign

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