ClinVar Miner

Submissions for variant NM_004612.4(TGFBR1):c.*1804A>G (rs200656974)

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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 RCV000383067 SCV000475717 likely benign Thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000288617 SCV000475718 likely benign Loeys-Dietz syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000343619 SCV000475719 likely benign Loeys-Dietz syndrome 1 2016-06-14 criteria provided, single submitter clinical testing

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