ClinVar Miner

Submissions for variant NM_005902.4(SMAD3):c.*1880C>T

gnomAD frequency: 0.00153  dbSNP: rs144205938
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000387739 SCV000393619 likely benign Loeys-Dietz syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000279044 SCV000393620 likely benign Familial thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing

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