ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.6A>C (p.Ala2=) (rs112042188)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000306453 SCV000440055 likely benign Hypocalcemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000347434 SCV000440056 likely benign Neonatal severe hyperparathyroidism 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000395613 SCV000440057 likely benign Hypoparathyroidism familial isolated 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000303092 SCV000440058 likely benign Familial hypocalciuric hypercalcemia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000461937 SCV000561367 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000731195 SCV000858978 likely benign not specified 2018-01-22 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.