ClinVar Miner

Submissions for variant NM_004268.5(MED17):c.490G>A (p.Ala164Thr)

gnomAD frequency: 0.00002  dbSNP: rs369606983
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
Institute of Human Genetics, University of Leipzig Medical Center RCV001706790 SCV001934288 uncertain significance Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly 2020-11-02 criteria provided, single submitter clinical testing This variant was identified as homozygous.
Baylor Genetics RCV001706790 SCV004041047 uncertain significance Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly 2023-08-29 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.