ClinVar Miner

Variants with conflicting interpretations studied for Congenital myasthenic syndrome 5

Coded as:
Minimum review status of the submission for Congenital myasthenic syndrome 5: Collection method of the submission for Congenital myasthenic syndrome 5:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
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
358 60 0 17 8 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.

All conditions
Congenital myasthenic syndrome 5 pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 13 1 0 0
likely pathogenic 13 0 4 0 0
uncertain significance 1 4 0 6 2
likely benign 0 0 6 0 4
benign 0 0 2 4 0

Condition to condition summary #

Total conditions: 1
Download table as spreadsheet
Condition 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
Congenital myasthenic syndrome 5 358 60 0 17 8 0 4 28

All variants with conflicting interpretations #

Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_005677.4(COLQ):c.291G>A (p.Ser97=) rs115201284 0.00908
NM_005677.4(COLQ):c.789G>A (p.Pro263=) rs150061580 0.00251
NM_005677.4(COLQ):c.23C>G (p.Thr8Ser) rs189427175 0.00131
NM_005677.4(COLQ):c.106+6T>C rs201376373 0.00119
NM_005677.4(COLQ):c.167C>T (p.Pro56Leu) rs768517440 0.00051
NM_005677.4(COLQ):c.561C>T (p.Ser187=) rs149370622 0.00034
NM_005677.4(COLQ):c.300C>T (p.Ser100=) rs2305611 0.00026
NM_005677.4(COLQ):c.1081C>T (p.Pro361Ser) rs116828761 0.00021
NM_005677.4(COLQ):c.814+11C>T rs575840341 0.00009
NM_005677.4(COLQ):c.912C>T (p.Tyr304=) rs886058099 0.00006
NM_005677.4(COLQ):c.1321A>G (p.Thr441Ala) rs375215281 0.00003
NM_005677.4(COLQ):c.1354C>T (p.Arg452Cys) rs368932156 0.00003
NM_005677.4(COLQ):c.555+1G>A rs769276577 0.00002
NM_005677.4(COLQ):c.942G>A (p.Pro314=) rs771944316 0.00002
NM_005677.4(COLQ):c.1281C>T (p.Cys427=) rs185829251 0.00001
NM_005677.4(COLQ):c.220-1G>A rs199470447 0.00001
NM_005677.4(COLQ):c.954+1G>A rs757060689 0.00001
NM_005677.4(COLQ):c.1129del (p.Asp377fs) rs1559511788
NM_005677.4(COLQ):c.1162G>A (p.Asp388Asn) rs1008156537
NM_005677.4(COLQ):c.1225dup (p.His409fs) rs1559510978
NM_005677.4(COLQ):c.175C>T (p.Pro59Ser)
NM_005677.4(COLQ):c.379C>T (p.Arg127Ter) rs143766249
NM_005677.4(COLQ):c.393+1G>A rs1085307792
NM_005677.4(COLQ):c.444G>A (p.Trp148Ter) rs1369980189
NM_005677.4(COLQ):c.54_57del (p.Ile20fs) rs771879602
NM_005677.4(COLQ):c.57dup (p.Ile20fs) rs777102590
NM_005677.4(COLQ):c.718-9C>T rs756975517
NM_005677.4(COLQ):c.955-2A>C

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