ClinVar Miner

Variants in gene SIK1 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
128 27 0 10 4 0 0 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.

uncertain significance likely benign benign
uncertain significance 0 4 0
likely benign 4 0 10
benign 0 10 0

All variants with conflicting interpretations #

Total variants: 14
Download table as spreadsheet
HGVS dbSNP
NM_173354.4(SIK1):c.1553C>T (p.Ala518Val) rs142171557
NM_173354.4(SIK1):c.2243G>A (p.Arg748His) rs375516507
NM_173354.5(SIK1):c.1077C>T (p.Ala359=) rs149713367
NM_173354.5(SIK1):c.1215G>A (p.Met405Ile) rs34987632
NM_173354.5(SIK1):c.1470C>T (p.Val490=) rs144693254
NM_173354.5(SIK1):c.1471G>C (p.Val491Leu) rs140222760
NM_173354.5(SIK1):c.2049G>A (p.Pro683=) rs373872652
NM_173354.5(SIK1):c.2142G>A (p.Leu714=) rs759724871
NM_173354.5(SIK1):c.2160G>T (p.Pro720=) rs371001336
NM_173354.5(SIK1):c.2204G>A (p.Gly735Asp) rs201955244
NM_173354.5(SIK1):c.274-3del rs550878772
NM_173354.5(SIK1):c.881C>T (p.Ala294Val) rs141114345
NM_173354.5(SIK1):c.924G>A (p.Ala308=) rs199738681
NM_173354.5(SIK1):c.951G>T (p.Val317=) rs113514102

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.