ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.6348_6359dup (p.His2116_Gln2119dup) (rs398124200)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000081269 SCV000113177 benign not specified 2014-07-09 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000081269 SCV000248026 benign not specified 2015-09-29 criteria provided, single submitter clinical testing
GeneDx RCV000081269 SCV000250585 benign not specified 2015-03-03 criteria provided, single submitter clinical testing This variant was found in TAADV2-PANCARD,TAAD,TAADV2-1,MACRO-BRAIN
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia RCV000081269 SCV000258013 benign not specified 2015-10-31 criteria provided, single submitter clinical testing
Invitae RCV000225918 SCV000288802 benign FG syndrome 1 2020-12-08 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000081269 SCV000310841 likely benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000620099 SCV000738308 benign Cardiovascular phenotype 2017-08-01 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance;Other strong data supporting benign classification
Ambry Genetics RCV000715884 SCV000846716 benign History of neurodevelopmental disorder 2017-08-01 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other strong data supporting benign classification,General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
GeneDx RCV001573590 SCV001885811 benign not provided 2020-08-17 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000081269 SCV001742123 benign not specified no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573590 SCV001799712 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001573590 SCV001928977 likely benign not provided no assertion criteria provided clinical testing

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