ClinVar Miner

Variants with conflicting interpretations studied for Congenital Myasthenic Syndrome, Recessive

Coded as:
Minimum review status of the submission for Congenital Myasthenic Syndrome, Recessive: Collection method of the submission for Congenital Myasthenic Syndrome, Recessive:
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
24 6 0 2 5 0 0 7

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, Recessive likely benign benign
uncertain significance 1 4
likely benign 0 2

Condition to condition summary #

Total conditions: 3
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
not provided 0 6 0 2 4 0 0 6
not specified 0 1 0 1 1 0 0 2
MUSK-related condition 0 0 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000334.4(SCN4A):c.*1677_*1678insAT rs397797581 0.01652
NM_005592.4(MUSK):c.312T>C (p.Gly104=) rs56181115 0.00009
NM_001244710.2(GFPT1):c.1324+13del rs113734896
NM_001244710.2(GFPT1):c.2056-11del rs201268947
NM_001244710.2(GFPT1):c.2056-12_2056-11del rs201268947
NM_005677.3(COLQ):c.-120_-119CA[9] rs746566925
NM_005677.3(COLQ):c.-122_-121delCG rs530131087

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