ClinVar Miner

Submissions for variant NM_003242.6(TGFBR2):c.*599C>A

gnomAD frequency: 0.00431  dbSNP: rs79755385
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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 RCV000287304 SCV000442946 likely benign Marfan syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000342263 SCV000442947 likely benign Loeys-Dietz syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000405408 SCV000442948 likely benign Familial thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001861215 SCV002107339 likely benign not provided 2021-09-16 criteria provided, single submitter clinical testing

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