ClinVar Miner

Variants with conflicting interpretations studied for Myotonia congenita

Coded as:
Minimum review status of the submission for Myotonia congenita: Y axis collection method of the submission for Myotonia congenita:
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 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
28 10 13 22 8 0 7 41

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
Myotonia congenita pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 13 8 5 0 0
likely pathogenic 0 0 1 0 0
uncertain significance 0 0 0 1 0
likely benign 1 1 7 0 14

Condition to condition summary #

Total conditions: 12
Download table as spreadsheet
Condition 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
Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 0 10 8 17 3 0 4 31
not provided 0 6 10 7 4 0 4 22
not specified 0 10 0 11 2 0 0 13
Congenital myotonia, autosomal dominant form 0 0 6 0 0 0 1 7
Congenital myotonia, autosomal recessive form 0 0 3 1 1 0 1 6
Myotonia 0 0 1 0 0 0 1 2
Myotonia congenita 77 0 2 0 0 0 0 2
Autosomal dominant intermediate Charcot-Marie-Tooth disease 0 0 0 0 0 0 1 1
Migraine; Memory impairment; Muscle cramps; EMG: neuropathic changes; EMG: myotonic runs; Limb pain 0 0 0 1 0 0 0 1
Muscle weakness; Myotonia 0 0 0 0 0 0 1 1
Muscular Diseases; EMG: myopathic abnormalities 0 0 0 1 0 0 0 1
Myotonia levior 0 0 1 0 0 0 0 1

All variants with conflicting interpretations #

Total variants: 41
Download table as spreadsheet
HGVS dbSNP
NM_000083.2(CLCN1):c.1013G>A (p.Arg338Gln) rs80356703
NM_000083.2(CLCN1):c.1205C>T (p.Ala402Val) rs202119213
NM_000083.2(CLCN1):c.1283T>C (p.Phe428Ser) rs774843953
NM_000083.2(CLCN1):c.1309G>A (p.Ala437Thr) rs41276054
NM_000083.2(CLCN1):c.1437_1450delACCCTGCGGAGGCT (p.Pro480Hisfs) rs768119034
NM_000083.2(CLCN1):c.1439C>T (p.Pro480Leu) rs80356694
NM_000083.2(CLCN1):c.1592C>T (p.Ala531Val) rs80356704
NM_000083.2(CLCN1):c.1655A>G (p.Gln552Arg) rs80356696
NM_000083.2(CLCN1):c.1797-9C>T rs41276057
NM_000083.2(CLCN1):c.1842G>C (p.Lys614Asn) rs140205115
NM_000083.2(CLCN1):c.2136T>C (p.Asp712=) rs73726622
NM_000083.2(CLCN1):c.2207C>T (p.Thr736Ile) rs139757692
NM_000083.2(CLCN1):c.2230C>A (p.Pro744Thr) rs149316679
NM_000083.2(CLCN1):c.2244G>A (p.Leu748=) rs78085922
NM_000083.2(CLCN1):c.2284+5C>T rs74824159
NM_000083.2(CLCN1):c.2364+10G>A rs201855153
NM_000083.2(CLCN1):c.2545G>A (p.Ala849Thr) rs201861334
NM_000083.2(CLCN1):c.2680C>T (p.Arg894Ter) rs55960271
NM_000083.2(CLCN1):c.26G>A (p.Arg9His) rs115379077
NM_000083.2(CLCN1):c.2795C>T (p.Pro932Leu) rs80356706
NM_000083.2(CLCN1):c.2926C>T (p.Arg976Ter) rs142539932
NM_000083.2(CLCN1):c.314G>A (p.Arg105His) rs756353660
NM_000083.2(CLCN1):c.316C>G (p.Leu106Val) rs145517198
NM_000083.2(CLCN1):c.382A>G (p.Met128Val) rs80356699
NM_000083.2(CLCN1):c.450C>T (p.Tyr150=) rs56307536
NM_000083.2(CLCN1):c.461A>G (p.Gln154Arg) rs111482384
NM_000083.2(CLCN1):c.501C>G (p.Phe167Leu) rs149729531
NM_000083.2(CLCN1):c.592C>G (p.Leu198Val) rs80356685
NM_000083.2(CLCN1):c.651C>T (p.Val217=) rs144109732
NM_000083.2(CLCN1):c.663G>A (p.Ala221=) rs147317366
NM_000083.2(CLCN1):c.689G>A (p.Gly230Glu) rs80356700
NM_000083.2(CLCN1):c.774+1G>A rs776073429
NM_000083.2(CLCN1):c.803C>T (p.Thr268Met) rs80356687
NM_000083.2(CLCN1):c.804G>A (p.Thr268=) rs141521078
NM_000083.2(CLCN1):c.870C>G (p.Ile290Met) rs80356690
NM_000083.2(CLCN1):c.899G>A (p.Arg300Gln) rs118066140
NM_000083.2(CLCN1):c.920T>C (p.Phe307Ser) rs80356701
NM_000083.2(CLCN1):c.929C>T (p.Thr310Met) rs80356691
NM_000083.2(CLCN1):c.937G>A (p.Ala313Thr) rs80356692
NM_000083.2(CLCN1):c.950G>A (p.Arg317Gln) rs80356702
NM_000334.4(SCN4A):c.1333G>T (p.Val445Leu) rs121908552

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