ClinVar Miner

Variants with conflicting interpretations studied for Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form

Coded as:
Minimum review status of the submission for Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form: Y axis collection method of the submission for Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form:
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
86 30 9 21 4 0 13 39

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 myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form pathogenic likely pathogenic uncertain significance likely benign
pathogenic 9 13 3 0
likely pathogenic 5 0 1 0
uncertain significance 6 5 0 3
likely benign 0 0 1 0
benign 0 0 0 4

Condition to condition summary #

Total conditions: 11
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
Myotonia congenita 0 4 9 7 2 0 5 22
not provided 0 29 0 12 0 0 9 20
not specified 0 10 0 1 3 0 0 4
Congenital myotonia, autosomal recessive form 0 8 0 1 0 0 2 3
Congenital myotonia, autosomal dominant form 0 6 0 1 0 0 1 2
Autosomal dominant intermediate Charcot-Marie-Tooth disease 0 0 0 0 0 0 1 1
Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 146 8 0 1 0 0 0 1
Migraine; Memory impairment; Muscle cramps; EMG: neuropathic changes; EMG: myotonic runs; Limb pain 0 0 0 1 0 0 0 1
Muscular Diseases; EMG: myopathic abnormalities 0 0 0 1 0 0 0 1
Myotonia 0 2 0 0 0 0 1 1
Myotonia levior 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 39
Download table as spreadsheet
HGVS dbSNP
NM_000083.2(CLCN1):c.698delG (p.Gly233Alafs) rs1423567292
NM_000083.3(CLCN1):c.1012C>T (p.Arg338Ter) rs759761559
NM_000083.3(CLCN1):c.1013G>A (p.Arg338Gln) rs80356703
NM_000083.3(CLCN1):c.1179T>A (p.Tyr393Ter) rs1554436799
NM_000083.3(CLCN1):c.1231G>T (p.Gly411Cys) rs756199349
NM_000083.3(CLCN1):c.1283T>C (p.Phe428Ser) rs774843953
NM_000083.3(CLCN1):c.1309G>A (p.Ala437Thr) rs41276054
NM_000083.3(CLCN1):c.1437_1450del (p.Pro480fs) rs768119034
NM_000083.3(CLCN1):c.1444G>A (p.Gly482Arg) rs746125212
NM_000083.3(CLCN1):c.1592C>T (p.Ala531Val) rs80356704
NM_000083.3(CLCN1):c.1649C>T (p.Thr550Met) rs762754992
NM_000083.3(CLCN1):c.1655A>G (p.Gln552Arg) rs80356696
NM_000083.3(CLCN1):c.1797-9C>T rs41276057
NM_000083.3(CLCN1):c.2230C>A (p.Pro744Thr) rs149316679
NM_000083.3(CLCN1):c.2244G>A (p.Leu748=) rs78085922
NM_000083.3(CLCN1):c.2284+5C>T rs74824159
NM_000083.3(CLCN1):c.2403+5G>A rs1474520642
NM_000083.3(CLCN1):c.2545G>A (p.Ala849Thr) rs201861334
NM_000083.3(CLCN1):c.2596-1G>A rs771721648
NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter) rs55960271
NM_000083.3(CLCN1):c.2795C>T (p.Pro932Leu) rs80356706
NM_000083.3(CLCN1):c.2831dup (p.Gly945fs) rs755176513
NM_000083.3(CLCN1):c.2847C>T (p.Gly949=) rs760793323
NM_000083.3(CLCN1):c.2926C>T (p.Arg976Ter) rs142539932
NM_000083.3(CLCN1):c.409T>G (p.Tyr137Asp) rs748639603
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu) rs149729531
NM_000083.3(CLCN1):c.568G>A (p.Gly190Arg) rs369773321
NM_000083.3(CLCN1):c.568_569delinsTC (p.Gly190Ser) rs797045032
NM_000083.3(CLCN1):c.592C>G (p.Leu198Val) rs80356685
NM_000083.3(CLCN1):c.689G>A (p.Gly230Glu) rs80356700
NM_000083.3(CLCN1):c.763G>T (p.Gly255Trp) rs746691295
NM_000083.3(CLCN1):c.803C>T (p.Thr268Met) rs80356687
NM_000083.3(CLCN1):c.857T>C (p.Val286Ala) rs80356689
NM_000083.3(CLCN1):c.870C>G (p.Ile290Met) rs80356690
NM_000083.3(CLCN1):c.892G>A (p.Ala298Thr) rs764100025
NM_000083.3(CLCN1):c.920T>C (p.Phe307Ser) rs80356701
NM_000083.3(CLCN1):c.937G>A (p.Ala313Thr) rs80356692
NM_000083.3(CLCN1):c.950G>A (p.Arg317Gln) rs80356702
NM_000083.3(CLCN1):c.959C>T (p.Ala320Val)

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