ClinVar Miner

Variants from Collagen Diagnostic Laboratory,University of Washington with conflicting interpretations

Location: United States — Primary collection method: clinical testing
Minimum review status of the submission from Collagen Diagnostic Laboratory,University of Washington: Collection method of the submission from Collagen Diagnostic Laboratory,University of Washington:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
350 40 0 20 0 0 4 24

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

All submitters
Collagen Diagnostic Laboratory,University of Washington likely pathogenic uncertain significance
pathogenic 20 4

Submitter to submitter summary #

Total submitters: 10
Download table as spreadsheet
Submitter Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
GeneDx 0 12 0 6 0 0 0 6
Ambry Genetics 0 7 0 2 0 0 2 4
Integrated Genetics/Laboratory Corporation of America 0 1 0 4 0 0 0 4
Invitae 0 19 0 3 0 0 1 4
Blueprint Genetics, 0 0 0 2 0 0 0 2
Center for Human Genetics, Inc 0 1 0 0 0 0 1 1
Centre for Translational Omics - GOSgene,University College London 0 0 0 1 0 0 0 1
Stanford Center for Inherited Cardiovascular Disease,Stanford University 0 0 0 1 0 0 0 1
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 0 0 1 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 24
Download table as spreadsheet
HGVS dbSNP
NM_000090.3(COL3A1):c.1052G>T (p.Gly351Val) rs587779498
NM_000090.3(COL3A1):c.1267G>A (p.Gly423Ser) rs587779631
NM_000090.3(COL3A1):c.1330G>A (p.Gly444Arg) rs587779489
NM_000090.3(COL3A1):c.1744G>A (p.Gly582Ser) rs121912923
NM_000090.3(COL3A1):c.1761+5G>A (p.Gly555_Asp587del) rs397509372
NM_000090.3(COL3A1):c.1988G>T (p.Gly663Val) rs587779454
NM_000090.3(COL3A1):c.2123G>T (p.Gly708Val) rs111929073
NM_000090.3(COL3A1):c.2194G>A (p.Gly732Arg) rs587779606
NM_000090.3(COL3A1):c.2914G>A (p.Gly972Ser) rs587779723
NM_000090.3(COL3A1):c.2959G>A (p.Gly987Ser) rs587779583
NM_000090.3(COL3A1):c.3103G>T (p.Gly1035Cys) rs587779704
NM_000090.3(COL3A1):c.3202-2A>G (p.Gly1068_Pro1085del) rs587779682
NM_000090.3(COL3A1):c.3212G>T (p.Gly1071Val) rs587779709
NM_000090.3(COL3A1):c.3256-43T>G (p.Pro1085_Gly1086insVCVYMTSIQNMFLK) rs587779667
NM_000090.3(COL3A1):c.3319G>A (p.Gly1107Arg) rs587779561
NM_000090.3(COL3A1):c.3356G>A (p.Gly1119Asp) rs587779639
NM_000090.3(COL3A1):c.3437G>A (p.Gly1146Glu) rs587779495
NM_000090.3(COL3A1):c.3472G>C (p.Gly1158Arg) rs587779715
NM_000090.3(COL3A1):c.3554G>A (p.Gly1185Asp) rs121912917
NM_000090.3(COL3A1):c.674G>C (p.Gly225Ala) rs587779533
NM_000090.3(COL3A1):c.709G>A (p.Gly237Arg) rs587779625
NM_000090.3(COL3A1):c.962G>A (p.Gly321Asp) rs587779588
NM_000090.3(COL3A1):c.970G>A (p.Gly324Ser) rs587779650
NM_000090.3(COL3A1):c.998G>A (p.Gly333Asp) rs587779673

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.