ClinVar Miner

Variants in gene CACNB4 with conflicting interpretations

Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:
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
240 8 0 7 8 0 1 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 uncertain significance likely benign benign
pathogenic 0 0 0 1
uncertain significance 0 0 7 2
likely benign 0 7 0 7
benign 1 2 7 0

All variants with conflicting interpretations #

Total variants: 14
Download table as spreadsheet
NM_000726.4(CACNB4):c.*4T>C rs556761275
NM_000726.4(CACNB4):c.1239G>A (p.Leu413=) rs1805028
NM_000726.4(CACNB4):c.1303-3T>C rs143442080
NM_000726.4(CACNB4):c.1355G>A (p.Arg452Lys) rs762394421
NM_000726.4(CACNB4):c.1437G>A (p.Gln479=) rs794727118
NM_000726.4(CACNB4):c.222A>T (p.Arg74=) rs553682728
NM_000726.4(CACNB4):c.288C>T (p.Ala96=) rs558998873
NM_000726.4(CACNB4):c.311G>T (p.Cys104Phe) rs1805031
NM_000726.4(CACNB4):c.36G>A (p.Ala12=) rs754380009
NM_000726.4(CACNB4):c.44C>G (p.Pro15Arg) rs200662010
NM_000726.4(CACNB4):c.54C>A (p.Pro18=) rs373222155
NM_000726.4(CACNB4):c.762T>A (p.Ile254=) rs61736804
NM_000726.5(CACNB4):c.8C>T (p.Ser3Phe) rs542973906
NM_001005746.4(CACNB4):c.-2T>G rs369342902

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