ClinVar Miner

Submissions for variant NM_152618.3(BBS12):c.1157G>A (p.Arg386Gln)

gnomAD frequency: 0.42071  dbSNP: rs309370
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 11
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000152830 SCV000202226 benign not specified 2014-01-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000152830 SCV000316215 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001094824 SCV000447412 benign Bardet-Biedl syndrome 12 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.
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000709668 SCV000744976 benign Bardet-Biedl syndrome 1 2015-09-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000320946 SCV001000000 benign Bardet-Biedl syndrome 2024-02-01 criteria provided, single submitter clinical testing
Pars Genome Lab RCV001094824 SCV001738544 benign Bardet-Biedl syndrome 12 2021-06-15 criteria provided, single submitter clinical testing
GeneDx RCV001711211 SCV001941688 benign not provided 2018-11-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001711211 SCV005302729 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000709668 SCV000734317 benign Bardet-Biedl syndrome 1 no assertion criteria provided clinical testing
Natera, Inc. RCV001094824 SCV001462015 benign Bardet-Biedl syndrome 12 2020-09-16 no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000152830 SCV001951957 benign not specified 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.