ClinVar Miner

Submissions for variant NM_000497.4(CYP11B1):c.456C>G (p.Asn152Lys)

gnomAD frequency: 0.00112  dbSNP: rs61751149
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000875265 SCV001017562 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Athena Diagnostics RCV001644852 SCV001143697 likely benign not specified 2021-02-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002487923 SCV002803088 likely benign Deficiency of steroid 11-beta-monooxygenase; Glucocorticoid-remediable aldosteronism 2022-01-07 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.