ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.5645C>T (p.Ser1882Leu)

dbSNP: rs368943871
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
Eurofins Ntd Llc (ga) RCV000284088 SCV000343382 uncertain significance not provided 2016-07-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001224918 SCV001397145 likely benign Bethlem myopathy 1A 2022-11-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV004021269 SCV004930199 uncertain significance Inborn genetic diseases 2023-10-13 criteria provided, single submitter clinical testing The c.5645C>T (p.S1882L) alteration is located in exon 12 (coding exon 11) of the COL6A3 gene. This alteration results from a C to T substitution at nucleotide position 5645, causing the serine (S) at amino acid position 1882 to be replaced by a leucine (L). 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.