ClinVar Miner

Submissions for variant NM_004612.4(TGFBR1):c.52_54GCG[6] (p.Ala24_Ala26del) (rs11466445)

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Total submissions: 17
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000755402 SCV000605372 benign not provided 2017-05-05 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000152000 SCV000605373 benign not specified 2017-03-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617041 SCV000317313 benign Cardiovascular phenotype 2014-12-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV000206714 SCV000318488 benign Thoracic aortic aneurysm and aortic dissection 2013-02-21 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000203000 SCV000257990 likely benign Loeys-Dietz syndrome 2015-05-11 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000152000 SCV000224453 benign not specified 2017-03-28 criteria provided, single submitter clinical testing
GeneDx RCV000152000 SCV000250865 benign not specified 2015-03-03 criteria provided, single submitter clinical testing This variant was found in TAADV2-PANCARD,TAAD,TAADV2-1
GeneDx RCV000755402 SCV000970392 benign not provided 2018-06-12 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.
Illumina Clinical Services Laboratory,Illumina RCV000263723 SCV000475606 benign Loeys-Dietz syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000206714 SCV000475607 benign Thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000203000 SCV000475608 benign Loeys-Dietz syndrome 2016-06-14 criteria provided, single submitter clinical testing
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital RCV000152000 SCV000864298 benign not specified 2017-06-05 criteria provided, single submitter clinical testing BA1, BS1, BP3, BP6; This alteration has an allele frequency that is greater than 5% healthy populations (ExAC/gnomAD), has an allele frequency that is greater than expected for the associated disease, is an in-frame deletion/insertion in a repetitive region without a known function, and was reported as a benign/likely benign alteration by a reputable source (ClinVar or other correspondence from a clinical testing laboratory).
Invitae RCV000206714 SCV000262439 benign Thoracic aortic aneurysm and aortic dissection 2018-01-23 criteria provided, single submitter clinical testing
Knight Diagnostic Laboratories,Oregon Health and Sciences University RCV000263723 SCV000493808 uncertain significance Loeys-Dietz syndrome 1 2015-12-19 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000152000 SCV000200559 benign not specified 2015-03-03 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000152000 SCV000740524 benign not specified 2016-10-12 criteria provided, single submitter clinical testing
PreventionGenetics RCV000152000 SCV000310513 benign not specified criteria provided, single submitter clinical testing

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