ClinVar Miner

Variants with conflicting interpretations between Women's Health and Genetics/Laboratory Corporation of America, LabCorp and Genomic Research Center, Shahid Beheshti University of Medical Sciences

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
63 34 0 7 2 0 6 15

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
pathogenic 0 5 5 0
likely pathogenic 1 0 1 0
likely benign 0 0 1 0
benign 0 0 1 1

All variants with conflicting interpretations #

Total variants: 15
Download table as spreadsheet
HGVS dbSNP
NM_000016.5(ACADM):c.799G>A (p.Gly267Arg) rs121434274
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234
NM_000053.4(ATP7B):c.2668G>A (p.Val890Met) rs786204718
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu) rs74315294
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His) rs137854475
NM_000159.4(GCDH):c.1204C>T (p.Arg402Trp) rs121434369
NM_000277.3(PAH):c.688G>A (p.Val230Ile) rs62516152
NM_000531.6(OTC):c.674C>T (p.Pro225Leu) rs67120076
NM_001110792.2(MECP2):c.626C>T (p.Thr209Met) rs61749714
NM_001163817.2(DHCR7):c.1A>G (p.Met1Val) rs104886033
NM_001163817.2(DHCR7):c.278C>T (p.Thr93Met) rs80338853
NM_002693.2(POLG):c.3527C>T (p.Ser1176Leu) rs776031396
NM_014625.3(NPHS2):c.467dup (p.Leu156fs) rs528833893
NM_015506.2(MMACHC):c.271dupA rs398124292
NM_033337.3(CAV3):c.233C>T (p.Thr78Met) rs72546668

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.