ClinVar Miner

Variants in gene COMP 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
574 32 0 28 7 0 2 37

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 16 0 0 0
likely pathogenic 16 0 2 0 0
uncertain significance 0 2 0 4 3
likely benign 0 0 4 0 12
benign 0 0 3 12 0

All variants with conflicting interpretations #

Total variants: 37
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000095.3(COMP):c.762+12C>A rs199733531 0.00463
NM_000095.3(COMP):c.2227+8G>A rs116499541 0.00363
NM_000095.3(COMP):c.218-15C>A rs542886784 0.00199
NM_000095.3(COMP):c.2262G>A (p.Leu754=) rs150428337 0.00155
NM_000095.3(COMP):c.1488C>A (p.Asp496Glu) rs143714206 0.00081
NM_000095.3(COMP):c.2152C>A (p.Arg718=) rs28936368 0.00081
NM_000095.3(COMP):c.218-7C>G rs554031979 0.00051
NM_000095.3(COMP):c.763-8T>C rs374063820 0.00045
NM_000095.3(COMP):c.700C>T (p.Pro234Ser) rs557483957 0.00024
NM_000095.3(COMP):c.468G>T (p.Pro156=) rs202241721 0.00017
NM_000095.3(COMP):c.951C>A (p.Asp317Glu) rs200547692 0.00014
NM_000095.3(COMP):c.412C>G (p.Pro138Ala) rs763966726 0.00011
NM_000095.3(COMP):c.1255-5C>T rs201124517 0.00006
NM_000095.3(COMP):c.1110G>A (p.Ala370=) rs780972997 0.00001
NM_000095.3(COMP):c.1563G>A (p.Pro521=) rs756075225 0.00001
NM_000095.3(COMP):c.762+1G>A rs755374221 0.00001
NM_000095.3(COMP):c.1021_1026del (p.Glu341_Asp342del) rs1064794294
NM_000095.3(COMP):c.1112G>A (p.Cys371Tyr) rs1057521130
NM_000095.3(COMP):c.1153G>A (p.Asp385Asn) rs1601054715
NM_000095.3(COMP):c.1201G>A (p.Asp401Asn) rs2055169002
NM_000095.3(COMP):c.1315G>T (p.Asp439Tyr) rs1601054002
NM_000095.3(COMP):c.1318G>C (p.Gly440Arg) rs1601053997
NM_000095.3(COMP):c.1405GAC[6] (p.Asp473dup) rs193922900
NM_000095.3(COMP):c.1502G>A (p.Gly501Asp) rs1555791425
NM_000095.3(COMP):c.1533C>G (p.Asp511Glu) rs1064794293
NM_000095.3(COMP):c.1569C>A (p.Asn523Lys) rs137852654
NM_000095.3(COMP):c.1569C>G (p.Asn523Lys) rs137852654
NM_000095.3(COMP):c.1668+13T>A rs74432818
NM_000095.3(COMP):c.1760A>G (p.His587Arg) rs312262901
NM_000095.3(COMP):c.2152C>T (p.Arg718Trp) rs28936368
NM_000095.3(COMP):c.2155G>A (p.Gly719Ser) rs312262904
NM_000095.3(COMP):c.2156G>A (p.Gly719Asp) rs137852655
NM_000095.3(COMP):c.218-14C>T rs150008764
NM_000095.3(COMP):c.218-6C>G rs534407430
NM_000095.3(COMP):c.604-2A>C rs1459554830
NM_000095.3(COMP):c.686G>A (p.Cys229Tyr)
NM_000095.3(COMP):c.805G>A (p.Asp269Asn) rs2145903436

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