ClinVar Miner

Submissions for variant NM_033028.5(BBS4):c.1061T>C (p.Ile354Thr) (rs2277598)

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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000152842 SCV000202238 benign not specified 2013-12-17 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000152842 SCV000315038 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001094309 SCV000393859 benign Bardet-Biedl syndrome 4 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.
Invitae RCV000020938 SCV001000170 benign Bardet-Biedl syndrome 2019-12-31 criteria provided, single submitter clinical testing
GeneReviews RCV000020938 SCV000041554 benign Bardet-Biedl syndrome 2009-10-13 no assertion criteria provided curation Converted during submission to Benign.
Department of Ophthalmology and Visual Sciences Kyoto University RCV000132688 SCV000172641 probable-non-pathogenic not provided no assertion criteria provided not provided Converted during submission to Likely benign.
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000709673 SCV000733471 benign Bardet-Biedl syndrome 1 no assertion criteria provided 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.