ClinVar Miner

Submissions for variant NM_000088.3(COL1A1):c.904-9G>T (rs141726413)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000710775 SCV000841079 benign not provided 2018-04-10 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc RCV000659349 SCV000781160 likely benign Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000248029 SCV000333255 benign not specified 2015-08-05 criteria provided, single submitter clinical testing
GeneDx RCV000248029 SCV000516497 benign not specified 2016-10-05 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.
Integrated Genetics/Laboratory Corporation of America RCV000248029 SCV000052237 benign not specified 2018-09-06 criteria provided, single submitter clinical testing Variant summary: COL1A1 c.904-9G>T is located at a position not widely known to affect splicing. The variant allele was found at a frequency of 0.0077 in 276078 control chromosomes, predominantly at a frequency of 0.012 within the Non-Finnish European subpopulation in the gnomAD database, including 14 homozygotes. The observed variant frequency within Non-Finnish European control individuals in the gnomAD database is approximately 426.66 fold of the estimated maximal expected allele frequency for a pathogenic variant in COL1A1 causing Osteogenesis Imperfecta phenotype (2.8e-05), strongly suggesting that the variant is a benign polymorphism found primarily in populations of Non-Finnish European origin. Four clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as benign/likely benign. Based on the evidence outlined above, the variant was classified as benign.
Invitae RCV000535444 SCV000627286 benign Osteogenesis imperfecta type I 2018-01-02 criteria provided, single submitter clinical testing
PreventionGenetics RCV000248029 SCV000302005 likely benign not specified criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.