ClinVar Miner

Submissions for variant NM_000089.3(COL1A2):c.594+5A>T (rs200744314)

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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000299692 SCV000603115 benign not specified 2016-11-10 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000299692 SCV000332943 benign not specified 2015-07-16 criteria provided, single submitter clinical testing
GeneDx RCV000299692 SCV000729664 benign not specified 2017-05-18 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.
GenomeConnect, ClinGen RCV000709887 SCV000840228 not provided Osteogenesis imperfecta, recessive perinatal lethal; Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form; Ehlers-Danlos syndrome, procollagen proteinase deficient no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
Illumina Clinical Services Laboratory,Illumina RCV000344198 SCV000470561 likely benign Osteogenesis Imperfecta, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000403517 SCV000470562 likely benign Ehlers-Danlos syndrome, procollagen proteinase deficient 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000542025 SCV000627352 benign Ehlers-Danlos syndrome, classic type; Osteogenesis imperfecta type I 2017-10-03 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.