ClinVar Miner

Submissions for variant NM_005902.4(SMAD3):c.1125C>T (p.Ser375=) (rs144245324)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000506132 SCV000605218 likely benign not specified 2017-04-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV000618765 SCV000739672 likely benign Cardiovascular phenotype 2016-08-24 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Color RCV000340241 SCV000913658 likely benign Thoracic aortic aneurysm and aortic dissection 2018-10-18 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000340241 SCV000393501 likely benign Thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000403729 SCV000393502 likely benign Loeys-Dietz syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000340241 SCV000776731 likely benign Thoracic aortic aneurysm and aortic dissection 2017-08-28 criteria provided, single submitter clinical testing

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