ClinVar Miner

Variants in gene combination CDK4, TSPAN31 with conflicting interpretations

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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
156 21 0 7 7 0 0 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.

uncertain significance likely benign benign
uncertain significance 0 6 3
likely benign 6 0 7
benign 3 7 0

All variants with conflicting interpretations #

Total variants: 12
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HGVS dbSNP
NM_000075.4(CDK4):c.633-8C>A rs536249985
NM_000075.4(CDK4):c.660C>T (p.Ala220=) rs773490152
NM_000075.4(CDK4):c.661G>A (p.Asp221Asn) rs587778187
NM_000075.4(CDK4):c.684-4A>T rs370609910
NM_000075.4(CDK4):c.762C>T (p.Pro254=) rs753908111
NM_000075.4(CDK4):c.763C>T (p.Arg255Cys) rs587778188
NM_000075.4(CDK4):c.764G>A (p.Arg255His) rs144657355
NM_000075.4(CDK4):c.771G>A (p.Val257=) rs377612647
NM_000075.4(CDK4):c.776C>T (p.Ser259Leu) rs201617914
NM_000075.4(CDK4):c.777G>A (p.Ser259=) rs3211622
NM_000075.4(CDK4):c.813G>A (p.Leu271=) rs1487727732
NM_000075.4(CDK4):c.834T>C (p.Phe278=) rs115576923

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