ClinVar Miner

Variants with conflicting interpretations between HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology and 3billion, Medical Genetics

Minimum review status of the submission from HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology: Collection method of the submission from HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology:
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
12 32 0 6 0 0 1 7

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
pathogenic 0 3
likely pathogenic 3 0
uncertain significance 1 0

All variants with conflicting interpretations #

Total variants: 7
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_145691.4(ATPAF2):c.133+1G>T rs147941728 0.00004
NM_005273.4(GNB2):c.217G>A (p.Ala73Thr) rs1424516740 0.00001
NM_000113.3(TOR1A):c.904GAG[1] (p.Glu303del) rs80358233
NM_001127222.2(CACNA1A):c.4174G>A (p.Val1392Met) rs794727411
NM_003072.5(SMARCA4):c.2851G>A (p.Gly951Arg) rs1060499936
NM_004333.6(BRAF):c.1722C>G (p.His574Gln) rs397507481
NM_014225.6(PPP2R1A):c.656C>T (p.Ser219Leu) rs1555791268

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