ClinVar Miner

Variants with conflicting interpretations between ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories and Centre for Mendelian Genomics,University Medical Centre Ljubljana

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
117 34 0 8 5 0 3 16

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
pathogenic 0 5 0
likely pathogenic 3 0 1
uncertain significance 1 1 0
likely benign 0 0 2
benign 0 0 3

All variants with conflicting interpretations #

Total variants: 16
Download table as spreadsheet
HGVS dbSNP
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234
NM_000033.4(ABCD1):c.1866-10G>A rs398123108
NM_000053.4(ATP7B):c.4301C>T (p.Thr1434Met) rs60986317
NM_000152.5(GAA):c.1552-3C>G rs375470378
NM_000157.4(GBA):c.1226A>G (p.Asn409Ser) rs76763715
NM_000350.2(ABCA4):c.2588G>C rs76157638
NM_000435.3(NOTCH3):c.397C>T (p.Arg133Cys) rs137852642
NM_000492.3(CFTR):c.1521_1523delCTT (p.Phe508delPhe) rs113993960
NM_001009944.3(PKD1):c.7636C>T (p.His2546Tyr) rs200037070
NM_001009944.3(PKD1):c.8284_8295del (p.Ile2762_Arg2765del) rs1596527370
NM_001009944.3(PKD1):c.971G>T (p.Arg324Leu) rs199476099
NM_001126131.2(POLG):c.1760C>T (p.Pro587Leu) rs113994096
NM_001126131.2(POLG):c.752C>T (p.Thr251Ile) rs113994094
NM_004004.6(GJB2):c.380G>A (p.Arg127His) rs111033196
NM_005472.5(KCNE3):c.248G>A (p.Arg83His) rs17215437
Single allele rs28359170

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