ClinVar Miner

Submissions for variant NM_001352514.2(HLCS):c.1893-46G>T

gnomAD frequency: 0.59296  dbSNP: rs2073421
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000246917 SCV000304066 benign not specified criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001527172 SCV001738105 benign Holocarboxylase synthetase deficiency 2021-06-10 criteria provided, single submitter clinical testing
GeneDx RCV001682975 SCV001898278 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001682975 SCV005310102 benign not provided criteria provided, single submitter not provided

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.