ClinVar Miner

Variants with conflicting interpretations between Diagnostic Laboratory, Strasbourg University Hospital and GeneDx

Minimum review status of the submission from Diagnostic Laboratory, Strasbourg University Hospital: Collection method of the submission from Diagnostic Laboratory, Strasbourg University Hospital:
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
161 18 0 6 2 0 6 14

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 benign
pathogenic 0 0 2 0
likely pathogenic 6 0 0 0
uncertain significance 3 1 0 1
likely benign 0 0 1 0

All variants with conflicting interpretations #

Total variants: 14
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_007254.4(PNKP):c.1029+2T>C rs199919568 0.00115
NM_007254.4(PNKP):c.1549C>T (p.Gln517Ter) rs774995635 0.00019
NM_005045.4(RELN):c.2015C>T (p.Pro672Leu) rs201044262 0.00016
NM_001165963.4(SCN1A):c.2576G>A (p.Arg859His) rs398123588 0.00001
NM_001195553.2(DCX):c.587G>A (p.Arg196His) rs56030372 0.00001
NM_001040142.2(SCN2A):c.2654C>T (p.Thr885Ile) rs1699477928
NM_001069.3(TUBB2A):c.872A>C (p.Gln291Pro) rs863224939
NM_001077350.3(NPRL3):c.980C>T (p.Pro327Leu) rs1898841618
NM_001134407.3(GRIN2A):c.1007+1G>A rs397518465
NM_001165963.4(SCN1A):c.1129C>T (p.Arg377Ter) rs794726799
NM_001195553.2(DCX):c.557G>A (p.Arg186His) rs587783563
NM_001271.4(CHD2):c.1934C>T (p.Thr645Met) rs2053619460
NM_005249.5(FOXG1):c.460dup (p.Glu154fs) rs398124204
NM_145239.3(PRRT2):c.647C>T (p.Pro216Leu) rs76335820

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