ClinVar Miner

Variants with conflicting interpretations between Gharavi Laboratory,Columbia University and Laboratory for Molecular Medicine,Mass General Brigham Personalized Medicine

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 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
0 23 0 3 4 0 3 10

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

All variants with conflicting interpretations #

Total variants: 10
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001126108.2(SLC12A3):c.363G>C (p.Glu121Asp) rs146632606 0.00080
NM_000169.3(GLA):c.376A>G (p.Ser126Gly) rs149391489 0.00063
NM_001126108.2(SLC12A3):c.2221G>A (p.Gly741Arg) rs138977195 0.00041
NM_000169.3(GLA):c.352C>T (p.Arg118Cys) rs148158093 0.00040
NM_000551.4(VHL):c.241C>T (p.Pro81Ser) rs104893829 0.00035
NM_000503.6(EYA1):c.865G>T (p.Asp289Tyr) rs201504674 0.00013
NM_014625.4(NPHS2):c.868G>A (p.Val290Met) rs200482683 0.00011
NM_004985.5(KRAS):c.34G>A (p.Gly12Ser) rs121913530 0.00001
NM_000256.3(MYBPC3):c.3815-1G>A rs397516044
NM_004985.5(KRAS):c.108A>G (p.Ile36Met) rs727503109

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