ClinVar Miner

Submissions for variant NM_005902.4(SMAD3):c.-15G>A

gnomAD frequency: 0.22024  dbSNP: rs1061427
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000128168 SCV000171760 benign not specified 2012-11-13 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, Mass General Brigham Personalized Medicine RCV000128168 SCV000269834 benign not specified 2013-04-04 criteria provided, single submitter clinical testing -15G>A in exon 1 of SMAD3: This variant is not expected to have clinical signifi cance because it has been identified in 22.8% (1943/8510) of European American c hromosomes from a broad population by the NHLBI Exome Sequencing Project (http:/ /evs.gs.washing
PreventionGenetics, part of Exact Sciences RCV000128168 SCV000311290 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000378447 SCV000393473 benign Aneurysm-osteoarthritis syndrome 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina RCV000288615 SCV000393474 benign Familial thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000288615 SCV000910518 benign Familial thoracic aortic aneurysm and aortic dissection 2018-03-19 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000128168 SCV001362468 benign not specified 2019-08-16 criteria provided, single submitter clinical testing

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