ClinVar Miner

Submissions for variant NM_003242.6(TGFBR2):c.927G>A (p.Thr309=)

gnomAD frequency: 0.00002  dbSNP: rs756625146
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001180368 SCV000319362 likely benign Familial thoracic aortic aneurysm and aortic dissection 2015-12-09 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen RCV001090473 SCV001246044 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing TGFBR2: BP4, BP7
Color Diagnostics, LLC DBA Color Health RCV001180368 SCV001345288 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-10-18 criteria provided, single submitter clinical testing
Invitae RCV001180368 SCV001730275 benign Familial thoracic aortic aneurysm and aortic dissection 2023-08-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494788 SCV002794889 likely benign Loeys-Dietz syndrome 2; Malignant tumor of esophagus; Colorectal cancer, hereditary nonpolyposis, type 6 2021-08-10 criteria provided, single submitter clinical testing

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