ClinVar Miner

Submissions for variant NM_080680.3(COL11A2):c.4884G>C (p.Glu1628Asp) (rs2229790)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 10
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000155420 SCV000205110 benign not specified 2016-01-21 criteria provided, single submitter clinical testing p.Glu1628Asp in exon 65 of COL11A2: This variant is not expected to have clinica l significance because it has been identified in 1% (20/2022) of East Asian and in 0.6% (45/6934) of South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs2229790).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000155420 SCV000333279 likely benign not specified 2015-08-19 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000280194 SCV000462216 likely benign Otospondylomegaepiphyseal dysplasia, autosomal recessive 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Illumina Clinical Services Laboratory,Illumina RCV000335229 SCV000462217 likely benign Fibrochondrogenesis 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Illumina Clinical Services Laboratory,Illumina RCV000403779 SCV000462218 likely benign Stickler Syndrome, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000341167 SCV000462220 likely benign Otospondylomegaepiphyseal dysplasia, autosomal dominant 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000155420 SCV000527968 benign not specified 2017-09-08 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.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001282754 SCV000885206 benign none provided 2020-01-20 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000757094 SCV001143586 benign not provided 2019-05-15 criteria provided, single submitter clinical testing
Invitae RCV000757094 SCV001729090 benign not provided 2020-11-25 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.