ClinVar Miner

Submissions for variant NC_000023.11:g.136648058A>C

gnomAD frequency: 0.02791  dbSNP: rs36206512
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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003654412 SCV000602938 likely benign not provided 2023-10-13 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000507290 SCV000860098 benign not specified 2018-03-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001504505 SCV001709385 likely benign Hyper-IgM syndrome type 1 2024-11-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV003654412 SCV005206806 likely benign not provided criteria provided, single submitter not provided

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.