ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.2603C>T (p.Thr868Met)

gnomAD frequency: 0.00004  dbSNP: rs572007088
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 RCV001236510 SCV001409236 likely benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2023-11-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002563860 SCV003602079 uncertain significance Inborn genetic diseases 2022-01-03 criteria provided, single submitter clinical testing The c.2603C>T (p.T868M) alteration is located in exon 13 (coding exon 12) of the COL12A1 gene. This alteration results from a C to T substitution at nucleotide position 2603, causing the threonine (T) at amino acid position 868 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003145455 SCV003831222 uncertain significance not provided 2022-11-01 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.