ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.1293+15T>A (rs2271679)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000029617 SCV000052269 benign Familial aortopathy 2011-08-18 criteria provided, single submitter curation Converted during submission to Benign.
GeneDx RCV000124399 SCV000167832 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 RCV000124399 SCV000268908 benign not specified 2013-04-04 criteria provided, single submitter clinical testing 1293+15T>A in intron 18 of COL3A1: This variant is not expected to have clinical significance because it is not located within the conserved splice consensus se quence. It has been identified in 37.0% (1631/4404) of African American chromoso mes from a broad population by the NHLBI Exome Sequencing Project (; dbSNP rs2271679).
PreventionGenetics,PreventionGenetics RCV000124399 SCV000302017 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000342921 SCV000425509 benign Ehlers-Danlos syndrome, type 4 2018-01-12 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.

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