ClinVar Miner

Submissions for variant NM_005902.4(SMAD3):c.508A>G (p.Ile170Val) (rs35874463)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000128164 SCV000171756 benign not specified 2012-11-05 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000128164 SCV000269836 benign not specified 2013-04-04 criteria provided, single submitter clinical testing Ile170Val in exon 3 of SMAD3: This variant is not expected to have clinical sign ificance because it has been identified in 5.5% (470/8598) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs35874463).
PreventionGenetics,PreventionGenetics RCV000128164 SCV000311292 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000617033 SCV000317307 benign Cardiovascular phenotype 2014-11-25 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000128164 SCV000335030 benign not specified 2015-09-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000405224 SCV000393485 likely benign Loeys-Dietz syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000246765 SCV000393486 likely benign Thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000246765 SCV000556220 benign Thoracic aortic aneurysm and aortic dissection 2017-08-17 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000755392 SCV000605217 benign not provided 2017-05-09 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000128164 SCV000740517 benign not specified 2015-11-30 criteria provided, single submitter clinical testing
Color RCV000246765 SCV000910556 benign Thoracic aortic aneurysm and aortic dissection 2018-03-19 criteria provided, single submitter clinical testing

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