ClinVar Miner

Submissions for variant NM_000192.3(TBX5):c.316A>G (p.Ile106Val) (rs147710408)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000271791 SCV000376507 benign Holt-Oram syndrome 2018-03-06 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.
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514832 SCV000610673 likely benign not provided 2017-06-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000618876 SCV000735363 benign Cardiovascular phenotype 2018-05-16 criteria provided, single submitter clinical testing Intact protein function observed in appropriate functional assay(s);In silico models in agreement (benign);General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Invitae RCV001080388 SCV001003223 benign Aortic valve disease 2 2019-12-31 criteria provided, single submitter clinical testing
Mendelics RCV000271791 SCV001138836 likely benign Holt-Oram syndrome 2019-05-28 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.