ClinVar Miner

Submissions for variant NM_018451.5(CENPJ):c.1969C>T (p.Gln657Ter) (rs797045450)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000192998 SCV000246957 pathogenic Seckel syndrome 4 2014-12-04 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001197635 SCV001368414 pathogenic Epicanthus; Esotropia; Stereotypy; Delayed speech and language development; Poor eye contact; Intellectual disability; Generalized hypotonia; Neonatal hypotonia; Short foot; Macular hypopigmented whorls, streaks, and patches; Hypomelanotic macule; Neonatal asphyxia; Clinodactyly; Intracranial hemorrhage 2019-02-28 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this varinat's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PP3. This variant was detected in heterozygous state.

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.