ClinVar Miner

Submissions for variant NM_004612.4(TGFBR1):c.*2095T>G (rs201780012)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000279344 SCV000475741 uncertain significance Thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000334282 SCV000475742 uncertain significance Loeys-Dietz syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000392296 SCV000475743 uncertain significance Loeys-Dietz syndrome 2016-06-14 criteria provided, single submitter clinical testing

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