ClinVar Miner

Submissions for variant NM_001243177.4(ALDOA):c.966C>T (p.Ile322=)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003120203 SCV003800035 likely benign HNSHA due to aldolase A deficiency 2022-03-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003334082 SCV004041963 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing ALDOA: BP4, BP7
Labcorp Genetics (formerly Invitae), Labcorp RCV003120203 SCV004549305 likely benign HNSHA due to aldolase A deficiency 2024-01-04 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.