ClinVar Miner

Submissions for variant NM_003242.6(TGFBR2):c.263+7A>G (rs1155705)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000030549 SCV000053220 benign Loeys-Dietz syndrome 2011-08-18 criteria provided, single submitter curation Converted during submission to Benign.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000037736 SCV000061398 benign not specified 2007-05-07 criteria provided, single submitter clinical testing
GeneDx RCV000037736 SCV000168936 benign not specified 2012-11-01 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 RCV000037736 SCV000309520 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001094912 SCV000442832 benign Loeys-Dietz syndrome 2 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 Clinical Services Laboratory,Illumina RCV000381481 SCV000442833 benign Familial thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000270578 SCV000442834 benign Marfan syndrome 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000037736 SCV000605374 benign not specified 2018-10-02 criteria provided, single submitter clinical testing

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