ClinVar Miner

Submissions for variant NM_004612.4(TGFBR1):c.*2005T>G (rs144216869)

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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 RCV000407913 SCV000475726 likely benign Loeys-Dietz syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000297289 SCV000475727 likely benign Thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000369806 SCV000475728 likely benign Loeys-Dietz syndrome 2016-06-14 criteria provided, single submitter clinical testing

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