ClinVar Miner

Submissions for variant NM_004991.4(MECOM):c.38-101210del

dbSNP: rs1751515079
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Godley laboratory, The University of Chicago RCV001172443 SCV001252841 likely pathogenic Dyskeratosis congenita, autosomal dominant 1 2020-05-21 criteria provided, single submitter clinical testing This heterozygous variant was found in germline in a 31-year old male with chronic neutropenia and mildly reduced pulmonary diffusion capacity. Telomeres are at the 1st percentile in lymphocytes. The variant segregates in the patient's mother who has been diagnosed with aplastic anemia at the age of 40 and with ILD at the age of 60.

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.