ClinVar Miner

Submissions for variant NM_021628.3(ALOXE3):c.1954C>T (p.Gln652Ter)

dbSNP: rs1163280866
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
GenomeConnect, ClinGen RCV001249459 SCV001423472 not provided Autosomal recessive congenital ichthyosis 3 no assertion provided phenotyping only Variant interpretted as Likely pathogenic and reported on 01-06-2020 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
Institute for Human Genetics, University Medical Center Freiburg RCV001249459 SCV001477368 pathogenic Autosomal recessive congenital ichthyosis 3 2021-01-07 no assertion criteria provided 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.