ClinVar Miner

Submissions for variant NM_025082.4(CENPT):c.24C>A (p.Ser8Arg)

gnomAD frequency: 0.02950  dbSNP: rs11558534
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001578985 SCV001806367 benign Short stature and microcephaly with genital anomalies 2021-07-22 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004710326 SCV005251989 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003980720 SCV004787139 benign CENPT-related disorder 2019-03-01 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.