ClinVar Miner

Variants with conflicting interpretations between Gharavi Laboratory,Columbia University and OMIM

Minimum review status of the submission from Gharavi Laboratory,Columbia University: Collection method of the submission from Gharavi Laboratory,Columbia University:
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
0 26 0 5 0 6 8 19

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 protective risk factor other
pathogenic 0 1 4 1
likely pathogenic 5 0 0 0
uncertain significance 5 0 1 0
likely benign 3 0 0 0

All variants with conflicting interpretations #

Total variants: 19
Download table as spreadsheet
NM_000059.3(BRCA2):c.5946delT (p.Ser1982Argfs) rs80359550
NM_000091.4(COL4A3):c.3499G>A (p.Gly1167Arg) rs267606745
NM_000168.5(GLI3):c.2119C>T (p.Pro707Ser) rs121917716
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334
NM_000540.2(RYR1):c.7300G>A (p.Gly2434Arg) rs121918593
NM_000551.3(VHL):c.241C>T (p.Pro81Ser) rs104893829
NM_003001.3(SDHC):c.405+1G>T rs587776653
NM_004621.5(TRPC6):c.428A>G (p.Asn143Ser) rs121434391
NM_006218.3(PIK3CA):c.1145G>A (p.Arg382Lys) rs587777794
NM_014625.3(NPHS2):c.686G>A (p.Arg229Gln) rs61747728
NM_014625.3(NPHS2):c.868G>A (p.Val290Met) rs200482683
NM_015559.3(SETBP1):c.2612T>C (p.Ile871Thr) rs267607038
NM_018848.3(MKKS):c.830T>C (p.Leu277Pro) rs74315398
NM_022454.3(SOX17):c.532G>T (p.Gly178Cys) rs267607082
NM_033360.3(KRAS):c.34G>A (p.Gly12Ser) rs121913530
NM_134425.2(SLC26A1):c.554C>T (p.Thr185Met) rs139024319
NM_138959.2(VANGL1):c.821G>A (p.Arg274Gln) rs121918219
NM_153240.4(NPHP3):c.2694-2_2694-1delAG rs751527253
NM_175875.4(SIX5):c.472G>A (p.Ala158Thr) rs80356461

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.