ClinVar Miner

Variants with conflicting interpretations between Color Health, Inc and University of Washington Department of Laboratory Medicine, University of Washington

Minimum review status of the submission from Color Health, Inc: Collection method of the submission from Color Health, Inc:
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
183 38 0 12 2 0 3 17

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.

likely pathogenic uncertain significance likely benign
pathogenic 7 0 0
likely pathogenic 0 3 0
uncertain significance 0 0 1
likely benign 0 1 0
benign 0 0 5

All variants with conflicting interpretations #

Total variants: 17
Download table as spreadsheet
NM_000051.3(ATM):c.2098C>T (p.Gln700Ter) rs786202743
NM_000051.3(ATM):c.4735C>T (p.Gln1579Ter) rs869312755
NM_000051.3(ATM):c.6100C>T (p.Arg2034Ter) rs532480170
NM_000051.3(ATM):c.7630-17T>C rs116047570
NM_000051.3(ATM):c.8419-19A>G rs12279930
NM_000051.4(ATM):c.103C>T (p.Arg35Ter) rs55861249
NM_000051.4(ATM):c.3712_3716del (p.Leu1238fs) rs786201675
NM_000465.4(BARD1):c.1932_1933del (p.Val644_Cys645insTer) rs587782504
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) rs11540652
NM_002878.3(RAD51D):c.620C>T (p.Ser207Leu) rs370228071
NM_004329.2(BMPR1A):c.562C>T (p.Arg188Cys) rs879254272
NM_004360.5(CDH1):c.2413G>A (p.Asp805Asn) rs200894246
NM_007294.3(BRCA1):c.5333-221C>A rs8176304
NM_007294.3(BRCA1):c.5333-304G>A rs55633264
NM_032043.2(BRIP1):c.1340+5G>C rs869312791
NM_032043.2(BRIP1):c.918+15T>A rs117820198
NM_058216.3(RAD51C):c.571+4A>G rs587780257

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