ClinVar Miner

Submissions for variant NM_004612.4(TGFBR1):c.52_54GCG[8] (p.Ala26del) (rs11466445)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000199722 SCV000250866 benign not specified 2015-03-03 criteria provided, single submitter clinical testing This variant was found in MYH11,TAADV2-PANCARD,TAAD,TAADV2-1,TGFBR1
PreventionGenetics,PreventionGenetics RCV000199722 SCV000310514 likely benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000246233 SCV000317736 benign Familial thoracic aortic aneurysm and aortic dissection 2018-04-03 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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000199722 SCV000332991 likely benign not specified 2015-09-10 criteria provided, single submitter clinical testing
Invitae RCV000246233 SCV000559249 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-12-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000199722 SCV001158209 benign not specified 2019-03-24 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000246233 SCV001333554 benign Familial thoracic aortic aneurysm and aortic dissection 2018-04-11 criteria provided, single submitter clinical testing

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