ClinVar Miner

Variants with conflicting interpretations between Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics and DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center

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 31 0 15 3 0 1 19

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.

uncertain significance likely benign benign
pathogenic 1 0 0
uncertain significance 0 2 1
likely benign 0 0 12
benign 0 3 0

All variants with conflicting interpretations #

Total variants: 19
Download table as spreadsheet
HGVS dbSNP
NM_000059.3(BRCA2):c.1786G>C (p.Asp596His) rs56328701
NM_000059.3(BRCA2):c.4258G>T (p.Asp1420Tyr) rs28897727
NM_000059.3(BRCA2):c.6347A>G (p.His2116Arg) rs55953736
NM_000059.3(BRCA2):c.7469T>C (p.Ile2490Thr) rs11571707
NM_000059.3(BRCA2):c.9038C>T (p.Thr3013Ile) rs28897755
NM_000059.3(BRCA2):c.978C>A (p.Ser326Arg) rs28897706
NM_000100.3(CSTB):c.121G>A (p.Val41Met) rs143153487
NM_000110.3(DPYD):c.1905+1G>A rs3918290
NM_000271.5(NPC1):c.665A>G (p.Asn222Ser) rs55680026
NM_001083961.2(WDR62):c.142C>T (p.Leu48Phe) rs62109744
NM_001301365.1(LYST):c.10941-7C>A rs72761794
NM_004572.3(PKP2):c.76G>A (p.Asp26Asn) rs143004808
NM_005751.4(AKAP9):c.8485G>A (p.Glu2829Lys) rs149946443
NM_007254.4(PNKP):c.538C>A (p.Arg180Ser) rs3739185
NM_007294.3(BRCA1):c.4039A>G (p.Arg1347Gly) rs28897689
NM_018965.3(TREM2):c.185G>A (p.Arg62His) rs143332484
NM_032578.3(MYPN):c.3481C>A (p.Leu1161Ile) rs138313730
NM_133433.4(NIPBL):c.6109-3T>C rs145778995
NM_144612.6(LOXHD1):c.4526G>A (p.Gly1509Glu) rs187587197

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