ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.1663G>A (p.Val555Ile)

gnomAD frequency: 0.00048  dbSNP: rs138172448
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000546918 SCV000645476 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2A 2024-01-28 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000734564 SCV000862716 uncertain significance not provided 2018-08-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002483453 SCV002780972 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A; Muscular dystrophy, limb-girdle, autosomal dominant 4 2021-07-16 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000734564 SCV003828917 uncertain significance not provided 2022-10-13 criteria provided, single submitter clinical testing
Natera, Inc. RCV000546918 SCV001454343 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2020-09-16 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.