ClinVar Miner

Submissions for variant NM_004612.4(TGFBR1):c.*1659T>C

gnomAD frequency: 0.00017  dbSNP: rs200082162
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000349340 SCV000475699 likely benign Familial thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000385048 SCV000475700 likely benign Loeys-Dietz syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000290706 SCV000475701 likely benign Loeys-Dietz syndrome 1 2016-06-14 criteria provided, single submitter clinical testing

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