ClinVar Miner

Submissions for variant NM_019892.6(INPP5E):c.1623C>T (p.Asp541=)

gnomAD frequency: 0.00068  dbSNP: rs77248046
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
Invitae RCV000864620 SCV001005443 likely benign Familial aplasia of the vermis 2024-01-13 criteria provided, single submitter clinical testing
GeneDx RCV001805911 SCV002050494 likely benign not provided 2021-01-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001805911 SCV004161976 likely benign not provided 2023-07-01 criteria provided, single submitter clinical testing INPP5E: BP4, BP7
Genetic Services Laboratory, University of Chicago RCV003151162 SCV003839614 likely benign not specified 2022-08-15 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.