ClinVar Miner

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

gnomAD frequency: 0.00004  dbSNP: rs144245324
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000340241 SCV000393501 likely benign Familial thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000403729 SCV000393502 likely benign Loeys-Dietz syndrome 2016-06-14 criteria provided, single submitter clinical testing
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 RCV000340241 SCV000739672 likely benign Familial thoracic aortic aneurysm and aortic dissection 2016-08-24 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV000340241 SCV000776731 likely benign Familial thoracic aortic aneurysm and aortic dissection 2024-01-08 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000340241 SCV000913658 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-10-18 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001580008 SCV001809347 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001580008 SCV001971547 likely benign not provided no assertion criteria provided clinical testing

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