ClinVar Miner

Variants in gene SCN1B 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 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
138 39 0 14 13 0 4 28

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 likely benign benign
pathogenic 0 1 2 0 0
likely pathogenic 1 0 2 0 0
uncertain significance 2 2 0 11 5
likely benign 0 0 11 0 13
benign 0 0 5 13 0

All variants with conflicting interpretations #

Total variants: 28
Download table as spreadsheet
HGVS dbSNP
NM_001037.5(SCN1B):c.-9C>A rs66671189
NM_001037.5(SCN1B):c.207+14G>A rs16969924
NM_001037.5(SCN1B):c.23T>C (p.Val8Ala) rs786205833
NM_001037.5(SCN1B):c.253C>T (p.Arg85Cys) rs786205830
NM_001037.5(SCN1B):c.255C>G (p.Arg85=) rs1060501166
NM_001037.5(SCN1B):c.267C>T (p.Arg89=) rs140949982
NM_001037.5(SCN1B):c.273G>A (p.Val91=) rs16969926
NM_001037.5(SCN1B):c.28G>A (p.Gly10Ser) rs72552027
NM_001037.5(SCN1B):c.351C>T (p.Gly117=) rs3746255
NM_001037.5(SCN1B):c.363C>G (p.Cys121Trp) rs104894718
NM_001037.5(SCN1B):c.412G>A (p.Val138Ile) rs72558029
NM_001037.5(SCN1B):c.448+111C>T rs758654948
NM_001037.5(SCN1B):c.448+112G>A rs72558026
NM_001037.5(SCN1B):c.448+193G>A rs66876876
NM_001037.5(SCN1B):c.448+230C>T rs769132369
NM_001037.5(SCN1B):c.448+295G>T rs786205828
NM_001037.5(SCN1B):c.448+321G>A rs72558028
NM_001037.5(SCN1B):c.448+345C>T rs754815235
NM_001037.5(SCN1B):c.448+88G>A rs267607028
NM_001037.5(SCN1B):c.448+8G>C rs200222933
NM_001037.5(SCN1B):c.457G>A (p.Asp153Asn) rs72550247
NM_001037.5(SCN1B):c.501T>C (p.Ile167=) rs16969930
NM_001037.5(SCN1B):c.561C>T (p.Ala187=) rs587781152
NM_001037.5(SCN1B):c.588T>C (p.Asn196=) rs77244433
NM_001037.5(SCN1B):c.632G>A (p.Cys211Tyr) rs150721582
NM_001037.5(SCN1B):c.63C>T (p.Cys21=) rs200339565
NM_001037.5(SCN1B):c.640G>A (p.Val214Ile) rs77106213
NM_199037.3(SCN1B):c.751G>A (p.Val251Ile) rs193922728

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