ClinVar Miner

Submissions for variant NM_004612.4(TGFBR1):c.1032T>C (p.Asn344=) (rs192662552)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000038234 SCV000061902 likely benign not specified 2009-06-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617101 SCV000318314 benign Cardiovascular phenotype 2015-09-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000337463 SCV000475636 likely benign Loeys-Dietz syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000246429 SCV000475637 likely benign Familial thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000283461 SCV000475638 likely benign Loeys-Dietz syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000246429 SCV000658840 benign Familial thoracic aortic aneurysm and aortic dissection 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000038234 SCV000718882 likely benign not specified 2017-04-28 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.
Color RCV000246429 SCV000903196 benign Familial thoracic aortic aneurysm and aortic dissection 2018-04-13 criteria provided, single submitter clinical testing

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