ClinVar Miner

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

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 24 0 9 1 0 9 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 likely pathogenic uncertain significance likely benign
pathogenic 0 7 0 0
likely pathogenic 2 0 3 0
uncertain significance 0 6 0 1

All variants with conflicting interpretations #

Total variants: 19
Download table as spreadsheet
HGVS dbSNP
NM_000059.3(BRCA2):c.9253dupA (p.Thr3085Asnfs) rs80359752
NM_000091.4(COL4A3):c.172G>A (p.Gly58Ser) rs184730597
NM_000091.4(COL4A3):c.2452G>A (p.Gly818Arg) rs868002181
NM_000091.4(COL4A3):c.3499G>A (p.Gly1167Arg) rs267606745
NM_000091.4(COL4A3):c.352G>A (p.Gly118Arg) rs1293137291
NM_000092.4(COL4A4):c.2279dup (p.Asp761fs) rs1553643669
NM_000135.4(FANCA):c.863_866dup (p.Ser290fs) rs1348367722
NM_001178007.1(BBS12):c.1151del (p.Ser384fs) rs1553941404
NM_001360.2(DHCR7):c.199G>A (p.Ala67Thr) rs143999854
NM_004646.3(NPHS1):c.2335-1G>A rs150038620
NM_012203.2(GRHPR):c.598+1G>T rs111256477
NM_014625.3(NPHS2):c.451+2T>A rs786204708
NM_014625.3(NPHS2):c.538G>A (p.Val180Met) rs74315347
NM_014625.3(NPHS2):c.686G>A (p.Arg229Gln) rs61747728
NM_015120.4(ALMS1):c.11086del (p.Ser3696fs) rs1412574975
NM_015120.4(ALMS1):c.5179dup (p.Leu1727fs) rs1553404020
NM_015120.4(ALMS1):c.8793dup (p.Glu2932Ter) rs1553409778
NM_020975.6(RET):c.785T>C (p.Val262Ala) rs139790943
NM_144696.6(AXDND1):c.3032-1907G>A rs74315348

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