ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.8812C>T (p.Arg2938Cys)

gnomAD frequency: 0.00001  dbSNP: rs778941390
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000801413 SCV000941187 likely benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2023-12-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002534678 SCV003733437 uncertain significance Inborn genetic diseases 2022-08-17 criteria provided, single submitter clinical testing The c.8812C>T (p.R2938C) alteration is located in exon 63 (coding exon 62) of the COL12A1 gene. This alteration results from a C to T substitution at nucleotide position 8812, causing the arginine (R) at amino acid position 2938 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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.