ClinVar Miner

Variants with conflicting interpretations studied for Malignant hyperthermia, susceptibility to, 1

Coded as:
Minimum review status of the submission for Malignant hyperthermia, susceptibility to, 1: Y axis collection method of the submission for Malignant hyperthermia, susceptibility to, 1:
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
36 33 2 14 24 20 8 58

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
Malignant hyperthermia, susceptibility to, 1 pathogenic likely pathogenic uncertain significance likely benign benign drug response risk factor
pathogenic 1 5 1 1 0 6 3
likely pathogenic 1 0 1 0 0 1 1
uncertain significance 1 6 0 16 5 2 0
likely benign 0 0 10 0 4 0 0
benign 0 0 2 5 1 0 0
risk factor 16 5 0 0 0 15 0

Condition to condition summary #

Total conditions: 27
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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
not provided 0 45 0 6 11 13 7 35
RYR1-Related Disorders 0 30 0 5 14 6 3 27
Myopathy, Central Core 0 13 2 3 7 7 0 19
desflurane response - Toxicity/ADR 0 0 0 0 0 19 0 19
enflurane response - Toxicity/ADR 0 0 0 0 0 19 0 19
halothane response - Toxicity/ADR 0 0 0 0 0 19 0 19
isoflurane response - Toxicity/ADR 0 0 0 0 0 19 0 19
methoxyflurane response - Toxicity/ADR 0 0 0 0 0 19 0 19
sevoflurane response - Toxicity/ADR 0 0 0 0 0 19 0 19
succinylcholine response - Toxicity/ADR 0 0 0 0 0 19 0 19
not specified 0 11 0 4 15 0 1 18
Malignant hyperthermia susceptibility 0 11 0 6 9 4 0 17
Malignant hyperthermia, susceptibility to, 1 113 4 0 1 4 4 1 10
Multiminicore Disease 0 10 0 3 6 0 0 9
Neuromuscular disease, congenital, with uniform type 1 fiber 0 11 0 3 6 0 0 9
Myopathy, Central Core; Malignant hyperthermia, susceptibility to, 1; Minicore myopathy; Congenital myopathy with fiber type disproportion 0 3 0 0 2 1 0 3
Minicore myopathy 0 3 0 0 0 2 0 2
Congenital muscular dystrophy; Generalized muscle weakness; EMG: myopathic abnormalities; Dysplasia of acetabulum 0 0 0 0 1 0 0 1
Congenital myopathy 0 1 0 0 1 0 0 1
Hypokalemic periodic paralysis 1; Malignant hyperthermia susceptibility type 5 0 0 0 0 1 0 0 1
Inborn genetic diseases 0 1 0 0 0 1 0 1
Malignant hyperthermia 0 3 0 1 1 0 0 1
Malignant hypothermia 0 4 0 0 1 0 0 1
Multi-minicore disease and atypical periodic paralysis 0 0 0 0 0 0 1 1
Multiminicore/minicore/multicore disease 0 0 0 0 1 0 0 1
Myopathy, progressive axial with cataracts 0 0 0 1 1 0 0 1
Ptosis; Sacral agenesis; History of neonatal hypotonia 0 0 0 0 0 1 0 1

All variants with conflicting interpretations #

Total variants: 58
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HGVS dbSNP
NM_000069.2(CACNA1S):c.4060A>T (p.Thr1354Ser) rs145910245
NM_000540.2(RYR1):c.10097G>A (p.Arg3366His) rs137932199
NM_000540.2(RYR1):c.1021G>A (p.Gly341Arg) rs121918592
NM_000540.2(RYR1):c.10616G>A (p.Arg3539His) rs143987857
NM_000540.2(RYR1):c.10747G>C (p.Glu3583Gln) rs55876273
NM_000540.2(RYR1):c.11061_11063delGGA (p.Glu3689del) rs760784102
NM_000540.2(RYR1):c.11518G>A (p.Val3840Ile) rs140616359
NM_000540.2(RYR1):c.11798A>G (p.Tyr3933Cys) rs147136339
NM_000540.2(RYR1):c.11958C>G (p.Asp3986Glu) rs193922842
NM_000540.2(RYR1):c.12499G>T (p.Glu4167Ter) rs772494345
NM_000540.2(RYR1):c.12553G>A (p.Ala4185Thr) rs151119428
NM_000540.2(RYR1):c.12879G>C (p.Ala4293=) rs193922854
NM_000540.2(RYR1):c.131G>A (p.Arg44His) rs139161723
NM_000540.2(RYR1):c.13502C>T (p.Pro4501Leu) rs73933023
NM_000540.2(RYR1):c.13513G>C (p.Asp4505His) rs150396398
NM_000540.2(RYR1):c.14387A>G (p.Tyr4796Cys) rs118192167
NM_000540.2(RYR1):c.14477C>T (p.Thr4826Ile) rs121918595
NM_000540.2(RYR1):c.1453A>G (p.Met485Val) rs147723844
NM_000540.2(RYR1):c.14670G>C (p.Val4890=) rs773080803
NM_000540.2(RYR1):c.14693T>C (p.Ile4898Thr) rs118192170
NM_000540.2(RYR1):c.14929G>C (p.Glu4977Gln) rs200777598
NM_000540.2(RYR1):c.1565A>C (p.Tyr522Ser) rs118192162
NM_000540.2(RYR1):c.1589G>A (p.Arg530His) rs111888148
NM_000540.2(RYR1):c.1598G>A (p.Arg533His) rs144336148
NM_000540.2(RYR1):c.1840C>T (p.Arg614Cys) rs118192172
NM_000540.2(RYR1):c.2122G>A (p.Asp708Asn) rs138874610
NM_000540.2(RYR1):c.3127C>T (p.Arg1043Cys) rs111272095
NM_000540.2(RYR1):c.4055C>G (p.Ala1352Gly) rs112105381
NM_000540.2(RYR1):c.4178A>G (p.Lys1393Arg) rs137933390
NM_000540.2(RYR1):c.4711A>G (p.Ile1571Val) rs146429605
NM_000540.2(RYR1):c.487C>T (p.Arg163Cys) rs118192161
NM_000540.2(RYR1):c.4999C>T (p.Arg1667Cys) rs144157950
NM_000540.2(RYR1):c.5036G>A (p.Arg1679His) rs146504767
NM_000540.2(RYR1):c.5183C>T (p.Ser1728Phe) rs193922781
NM_000540.2(RYR1):c.5317C>T (p.Pro1773Ser) rs192863857
NM_000540.2(RYR1):c.5360C>T (p.Pro1787Leu) rs34934920
NM_000540.2(RYR1):c.6178G>T (p.Gly2060Cys) rs35364374
NM_000540.2(RYR1):c.6487C>T (p.Arg2163Cys) rs118192175
NM_000540.2(RYR1):c.6488G>A (p.Arg2163His) rs118192163
NM_000540.2(RYR1):c.6502G>A (p.Val2168Met) rs118192176
NM_000540.2(RYR1):c.6617C>T (p.Thr2206Met) rs118192177
NM_000540.2(RYR1):c.6721C>T rs200563280
NM_000540.2(RYR1):c.6838G>A (p.Val2280Ile) rs193922797
NM_000540.2(RYR1):c.6961A>G (p.Ile2321Val) rs34390345
NM_000540.2(RYR1):c.7025A>G (p.Asn2342Ser) rs147213895
NM_000540.2(RYR1):c.7042_7044delGAG (p.Glu2348del) rs121918596
NM_000540.2(RYR1):c.7048G>A (p.Ala2350Thr) rs193922802
NM_000540.2(RYR1):c.7099G>A (p.Ala2367Thr) rs146306934
NM_000540.2(RYR1):c.7300G>A (p.Gly2434Arg) rs121918593
NM_000540.2(RYR1):c.7361G>A (p.Arg2454His) rs118192122
NM_000540.2(RYR1):c.7372C>T (p.Arg2458Cys) rs28933397
NM_000540.2(RYR1):c.7373G>A (p.Arg2458His) rs121918594
NM_000540.2(RYR1):c.742G>A (p.Gly248Arg) rs1801086
NM_000540.2(RYR1):c.8305G>A (p.Asp2769Asn) rs566495420
NM_000540.2(RYR1):c.8327C>T (p.Ser2776Phe) rs147707463
NM_000540.2(RYR1):c.8360C>G (p.Thr2787Ser) rs35180584
NM_000540.2(RYR1):c.89A>T (p.Glu30Val) rs145771708
NM_000540.2(RYR1):c.9242T>C (p.Met3081Thr) rs147012990

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