ClinVar Miner

Variants with conflicting interpretations between Women's Health and Genetics/Laboratory Corporation of America, LabCorp and Johns Hopkins Genomics, Johns Hopkins University

Minimum review status of the submission from Women's Health and Genetics/Laboratory Corporation of America, LabCorp: Collection method of the submission from Women's Health and Genetics/Laboratory Corporation of America, LabCorp:
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
79 66 0 13 2 0 1 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 likely benign benign
pathogenic 0 6 0 0 0
likely pathogenic 7 0 1 0 0
uncertain significance 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 16
Download table as spreadsheet
HGVS dbSNP
NM_000033.4(ABCD1):c.838C>T (p.Arg280Cys) rs193922098
NM_000051.3(ATM):c.2839-3_2839delinsGATACTA rs786202148
NM_000138.5(FBN1):c.4441A>G (p.Ser1481Gly) rs61730054
NM_000157.4(GBA):c.476G>A (p.Arg159Gln) rs79653797
NM_000350.3(ABCA4):c.5318C>T (p.Ala1773Val) rs760549861
NM_000478.6(ALPL):c.1182dup (p.Ile395fs) rs754826836
NM_000492.3(CFTR):c.1438G>T (p.Gly480Cys) rs79282516
NM_000492.3(CFTR):c.1820_1903del (p.Met607_Gln634del) rs121908777
NM_000492.3(CFTR):c.2620-15C>G rs139379077
NM_000492.3(CFTR):c.2810dup (p.Val938fs) rs193922510
NM_000492.3(CFTR):c.350G>T (p.Arg117Leu) rs78655421
NM_000492.4(CFTR):c.1327G>T (p.Asp443Tyr) rs147422190
NM_000492.4(CFTR):c.1865G>A (p.Gly622Asp) rs121908759
NM_000492.4(CFTR):c.2657+2_2657+3insA rs397508414
NM_001378454.1(ALMS1):c.1941del (p.Val648fs)
NM_014625.3(NPHS2):c.714G>T (p.Arg238Ser) rs748812981

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