ClinVar Miner

Submissions for variant NM_004612.4(TGFBR1):c.*2104_*2105insGT

dbSNP: rs1554703244
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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 RCV000318717 SCV000475756 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000373315 SCV000475757 uncertain significance Loeys-Dietz syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000278866 SCV000475758 uncertain significance Loeys-Dietz syndrome 2016-06-14 criteria provided, single submitter clinical testing

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