ClinVar Miner

Submissions for variant NM_005902.4(SMAD3):c.66G>A (p.Glu22=) (rs187952791)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000198739 SCV000250748 benign not specified 2014-11-20 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.
PreventionGenetics,PreventionGenetics RCV000198739 SCV000311294 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000617102 SCV000320241 benign Cardiovascular phenotype 2015-09-14 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
Illumina Clinical Services Laboratory,Illumina RCV000247846 SCV000393475 likely benign Thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000384358 SCV000393476 likely benign Loeys-Dietz syndrome 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000198739 SCV000605215 benign not specified 2016-08-04 criteria provided, single submitter clinical testing
Invitae RCV000858122 SCV000658884 benign not provided 2019-03-04 criteria provided, single submitter clinical testing
Color RCV000247846 SCV000903357 benign Thoracic aortic aneurysm and aortic dissection 2018-03-08 criteria provided, single submitter clinical testing

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