ClinVar Miner

Submissions for variant NM_173630.4(RTTN):c.5750A>G (p.Asp1917Gly)

gnomAD frequency: 0.00001  dbSNP: rs780270096
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
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre RCV000203564 SCV000258545 likely pathogenic Primary microcephaly 2015-09-25 criteria provided, single submitter research
OMIM RCV000210342 SCV000266380 pathogenic Microcephalic primordial dwarfism due to RTTN deficiency 2015-12-03 no assertion criteria provided literature only

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.