ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.865A>G (p.Ile289Val)

gnomAD frequency: 0.00113  dbSNP: rs150384293
Minimum review status: Collection method:
Minimum conflict level:
Total submissions: 17
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV001579626 SCV007309215 benign not specified 2023-04-17 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001706511 SCV005292127 benign not provided criteria provided, single submitter not provided
Dept Of Ophthalmology, Nagoya University RCV003888748 SCV004705068 benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV000310340 SCV000636530 benign Bardet-Biedl syndrome 2026-02-04 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001094337 SCV000398063 benign Bardet-Biedl syndrome 2 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.
Dr. Peter K. Rogan Lab, Western University RCV005894497 SCV006859417 not provided Malignant tumor of esophagus no classification provided in vitro
Dr. Peter K. Rogan Lab, Western University RCV005894498 SCV006859416 not provided Gastric cancer no classification provided in vitro
Dr. Peter K. Rogan Lab, Western University RCV005894498 SCV006859415 not provided Gastric cancer no classification provided in vitro
Dr. Peter K. Rogan Lab, Western University RCV005894498 SCV006859414 not provided Gastric cancer no classification provided in vitro
Dr. Peter K. Rogan Lab, Western University RCV005894498 SCV006859413 not provided Gastric cancer no classification provided in vitro
Dr. Peter K. Rogan Lab, Western University RCV005894499 SCV006859412 not provided Ovarian serous cystadenocarcinoma no classification provided in vitro
Dr. Peter K. Rogan Lab, Western University RCV005894499 SCV006859411 not provided Ovarian serous cystadenocarcinoma no classification provided in vitro
Dr. Peter K. Rogan Lab, Western University RCV005894496 SCV006859410 not provided Hepatocellular carcinoma no classification provided in vitro
Dr. Peter K. Rogan Lab, Western University RCV005894496 SCV006859409 not provided Hepatocellular carcinoma no classification provided in vitro
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001706511 SCV001932786 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579626 SCV001807934 benign not specified no assertion criteria provided clinical testing
Natera, Inc. RCV001094337 SCV001457439 benign Bardet-Biedl syndrome 2 2020-09-16 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. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.