ClinVar Miner

Variants with conflicting interpretations between Women's Health and Genetics/Laboratory Corporation of America, LabCorp and Blueprint Genetics

Minimum review status of the submission from Women's Health and Genetics/Laboratory Corporation of America, LabCorp: Collection method of the submission from Women's Health and Genetics/Laboratory Corporation of America, LabCorp:
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 per condition Variants with at least 2 submissions on the same condition 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 conflict
198 45 0 12 5 0 4 21

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.

pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 6 0 0 0
likely pathogenic 2 0 0 0 0
uncertain significance 0 4 0 1 0
likely benign 0 0 4 0 1
benign 0 0 0 3 0

All variants with conflicting interpretations #

Total variants: 21
Download table as spreadsheet
HGVS dbSNP
NM_000138.4(FBN1):c.1379G>A (p.Cys460Tyr) rs1597581001
NM_000138.4(FBN1):c.4460-8G>A rs193922204
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His) rs137854475
NM_000138.5(FBN1):c.3712G>A rs794728208
NM_000256.3(MYBPC3):c.2490dup (p.His831fs) rs397515966
NM_000257.4(MYH7):c.4135G>A (p.Ala1379Thr) rs397516202
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829
NM_000527.5(LDLR):c.1291G>A (p.Ala431Thr)
NM_001005242.3(PKP2):c.1460T>G (p.Ile487Ser) rs147240502
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) rs28934906
NM_001134363.3(RBM20):c.2662G>A (p.Asp888Asn) rs201370621
NM_001267550.2(TTN):c.104560G>C (p.Val34854Leu) rs55866005
NM_001267550.2(TTN):c.45408G>T (p.Lys15136Asn) rs72677225
NM_001276345.2(TNNT2):c.446G>A (p.Arg149His) rs397516466
NM_001276345.2(TNNT2):c.762G>T (p.Glu254Asp) rs45466197
NM_001613.4(ACTA2):c.116G>A (p.Arg39His) rs794728021
NM_003242.6(TGFBR2):c.1483C>T (p.Arg495Ter) rs104893819
NM_004612.4(TGFBR1):c.214A>T (p.Ile72Leu) rs111513627
NM_004612.4(TGFBR1):c.934G>A (p.Gly312Ser) rs760079636
NM_012452.2(TNFRSF13B):c.568G>C (p.Gly190Arg) rs150101848
NM_170707.4(LMNA):c.1189C>T (p.Arg397Cys) rs374726751

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.