ClinVar Miner

Variants with conflicting interpretations between Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics and Quest Diagnostics Nichols Institute San Juan Capistrano

Minimum review status of the submission from Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics: Collection method of the submission from Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics:
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 Variants with at least 2 submissions 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 kind of conflict
0 33 0 9 1 0 0 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.

likely pathogenic likely benign benign
pathogenic 2 0 0
uncertain significance 0 1 1
likely benign 0 0 6
benign 0 1 0

All variants with conflicting interpretations #

Total variants: 10
Download table as spreadsheet
HGVS dbSNP
NM_000492.3(CFTR):c.3154T>G (p.Phe1052Val) rs150212784
NM_000492.3(CFTR):c.3454G>C (p.Asp1152His) rs75541969
NM_000552.4(VWF):c.2451T>A (p.His817Gln) rs57950734
NM_002485.4(NBN):c.1882G>A (p.Glu628Lys) rs115321485
NM_003002.4(SDHD):c.149A>G (p.His50Arg) rs11214077
NM_006231.3(POLE):c.16G>C (p.Gly6Arg) rs202220778
NM_006231.3(POLE):c.2089C>T (p.Pro697Ser) rs5744800
NM_024675.3(PALB2):c.2590C>T (p.Pro864Ser) rs45568339
NM_032043.2(BRIP1):c.1433A>G (p.His478Arg) rs45501097
NM_058216.3(RAD51C):c.859A>G (p.Thr287Ala) rs28363317

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