ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.1923G>A (p.Glu641=) (rs76956936)

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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 RCV000150096 SCV000111338 benign not specified 2016-01-07 criteria provided, single submitter clinical testing
GeneDx RCV000150096 SCV000171985 benign not specified 2013-05-22 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 RCV000150096 SCV000195183 likely benign not specified 2015-08-10 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000280945 SCV000409524 likely benign Pitt-Hopkins syndrome 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae RCV000280945 SCV000646121 likely benign Pitt-Hopkins syndrome 2020-11-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV000717018 SCV000847863 likely benign History of neurodevelopmental disorder 2016-09-19 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Athena Diagnostics Inc RCV000858710 SCV001146124 benign not provided 2018-12-31 criteria provided, single submitter clinical testing

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