ClinVar Miner

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

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Total submissions: 8
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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
Division of Genomic Diagnostics,The 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 2019-12-31 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 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
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

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