ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.1299G>A (p.Leu433=)

dbSNP: rs552340151
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000128383 SCV000171979 benign not specified 2014-02-28 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 RCV000128383 SCV000597422 benign not specified 2016-01-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000537601 SCV000646108 benign Pitt-Hopkins syndrome 2024-11-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV002316917 SCV000850198 likely benign Inborn genetic diseases 2016-09-09 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.
CeGaT Center for Human Genetics Tuebingen RCV001701765 SCV004143133 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing TCF4: BP4, BP7, BS1
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001701765 SCV001931291 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001701765 SCV001973096 likely benign not provided no assertion criteria provided clinical testing

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