ClinVar Miner

Variants with conflicting interpretations between Institute of Human Genetics, Heidelberg University and OMIM

Minimum review status of the submission from Institute of Human Genetics, Heidelberg University: Collection method of the submission from Institute of Human Genetics, Heidelberg University:
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
16 21 0 9 0 2 1 12

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 benign risk factor
pathogenic 0 1 1
likely pathogenic 9 0 1

All variants with conflicting interpretations #

Total variants: 12
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr) rs1800562 0.03880
NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter) rs55960271 0.00561
NM_001492.6(GDF1):c.681C>A (p.Cys227Ter) rs121434422 0.00058
NM_018082.6(POLR3B):c.2084-6A>G rs747912710 0.00011
NM_030777.4(SLC2A10):c.394C>T (p.Arg132Trp) rs121908173 0.00010
NM_005912.3(MC4R):c.380C>T (p.Ser127Leu) rs13447331 0.00008
NM_000188.3(HK1):c.1334C>T (p.Ser445Leu) rs1064794848
NM_001395891.1(CLASP1):c.196-607G>A rs180755563
NM_002016.2(FLG):c.2282_2285del (p.Ser761fs) rs558269137
NM_004522.3(KIF5C):c.709G>A (p.Glu237Lys) rs587777570
NM_058195.4(CDKN2A):c.194-3653G>T rs1800586
NM_201596.3(CACNB2):c.1604C>T (p.Ser535Leu) rs121917812

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