ClinVar Miner

Submissions for variant NM_003242.5(TGFBR2):c.-302A>G

gnomAD frequency: 0.00832  dbSNP: rs138010137
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000261147 SCV000442811 likely benign Familial thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000332612 SCV000442812 likely benign Marfan syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000389483 SCV000442813 likely benign Loeys-Dietz syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001584054 SCV001820539 likely benign not provided 2018-06-26 criteria provided, single submitter clinical testing

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