ClinVar Miner

Variants with conflicting interpretations between ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories and Fulgent Genetics,Fulgent Genetics

Minimum review status of the submission from ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories: Collection method of the submission from ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories:
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
273 102 0 8 3 0 0 11

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 0 0
likely pathogenic 2 0 0 0
likely benign 0 0 3 0
benign 0 0 0 1

All variants with conflicting interpretations #

Total variants: 11
Download table as spreadsheet
HGVS dbSNP
NM_000016.5(ACADM):c.797A>G (p.Asp266Gly) rs201375579
NM_000016.5(ACADM):c.881G>C (p.Arg294Thr) rs779759347
NM_000138.5(FBN1):c.2645C>T rs794728195
NM_000138.5(FBN1):c.4441A>G (p.Ser1481Gly) rs61730054
NM_000138.5(FBN1):c.6806T>C (p.Ile2269Thr) rs193922228
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr) rs727503054
NM_001009944.3(PKD1):c.11356G>C (p.Glu3786Gln) rs147992238
NM_001370466.1(NOD2):c.2782G>A (p.Val928Ile) rs5743291
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881
NM_003060.4(SLC22A5):c.695C>T (p.Thr232Met) rs114269482
NM_006031.6(PCNT):c.5975C>T (p.Pro1992Leu) rs758977418

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