ClinVar Miner

Submissions for variant NM_000235.4(LIPA):c.539-5C>A (rs2297472)

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
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000729734 SCV000857421 uncertain significance not provided 2017-10-06 criteria provided, single submitter clinical testing
Invitae RCV001485702 SCV001690148 likely benign Wolman disease 2020-11-27 criteria provided, single submitter clinical testing
Elsea Laboratory,Baylor College of Medicine RCV001250116 SCV001424299 likely benign Lysosomal acid lipase deficiency 2020-04-01 no assertion criteria provided clinical testing
Natera, Inc. RCV001250116 SCV001464773 uncertain significance Lysosomal acid lipase deficiency 2020-07-28 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.