ClinVar Miner

Submissions for variant NM_004612.4(TGFBR1):c.528G>A (p.Thr176=) (rs190878719)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000038239 SCV000605371 benign not specified 2016-12-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617105 SCV000319255 likely benign Cardiovascular phenotype 2015-10-20 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000243163 SCV000901792 likely benign Thoracic aortic aneurysm and aortic dissection 2016-02-22 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000585380 SCV000693294 likely benign not provided 2017-10-31 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000585380 SCV000229052 uncertain significance not provided 2015-05-08 criteria provided, single submitter clinical testing
GeneDx RCV000038239 SCV000250854 benign not specified 2015-02-10 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 RCV000303277 SCV000475624 likely benign Loeys-Dietz syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000243163 SCV000475625 likely benign Thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000267898 SCV000475626 likely benign Loeys-Dietz syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000243163 SCV000658851 likely benign Thoracic aortic aneurysm and aortic dissection 2017-12-26 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038239 SCV000061907 likely benign not specified 2009-06-03 criteria provided, single submitter clinical testing

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