ClinVar Miner

Variants with conflicting interpretations studied for Abnormality of the musculature

Coded as:
Minimum review status of the submission for Abnormality of the musculature: Collection method of the submission for Abnormality of the musculature:
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
108 46 0 28 0 0 12 34

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
Abnormality of the musculature pathogenic likely pathogenic uncertain significance
pathogenic 0 13 2
likely pathogenic 15 0 10

Condition to condition summary #

Total conditions: 8
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 45 0 27 0 0 10 33
RYR1-Related Disorders 0 3 0 3 0 0 0 3
Malignant hyperthermia, susceptibility to, 1 0 1 0 0 0 0 2 2
BAG3-related condition 0 0 0 1 0 0 0 1
Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia; King Denborough syndrome 0 0 0 1 0 0 0 1
Rhabdomyolysis 0 0 0 1 0 0 0 1
Tip-toe gait 0 0 0 1 0 0 0 1
not specified 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 34
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter) rs55960271 0.00561
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu) rs74315294 0.00134
NM_021971.4(GMPPB):c.860G>A (p.Arg287Gln) rs202160208 0.00019
NM_213599.3(ANO5):c.172C>T (p.Arg58Trp) rs201725369 0.00016
NM_213599.3(ANO5):c.1733T>C (p.Phe578Ser) rs137854526 0.00010
NM_001849.4(COL6A2):c.1970-9G>A rs747900252 0.00008
NM_000070.3(CAPN3):c.1250C>T (p.Thr417Met) rs200646556 0.00006
NM_000070.3(CAPN3):c.865C>T (p.Arg289Trp) rs528417986 0.00004
NM_000540.3(RYR1):c.14126C>T (p.Thr4709Met) rs118192140 0.00004
NM_021971.4(GMPPB):c.656T>C (p.Ile219Thr) rs761714818 0.00004
NM_000070.3(CAPN3):c.1318C>T (p.Arg440Trp) rs777323132 0.00001
NM_000070.3(CAPN3):c.1636C>T (p.Arg546Cys) rs372438001 0.00001
NM_000083.3(CLCN1):c.895G>C (p.Val299Leu) rs202179484 0.00001
NM_000540.3(RYR1):c.8888T>C (p.Leu2963Pro) rs756870293 0.00001
NM_001130987.2(DYSF):c.5626G>A (p.Asp1876Asn) rs398123794 0.00001
NM_001130987.2(DYSF):c.851C>T (p.Thr284Met) rs398123802 0.00001
NM_004614.5(TK2):c.311G>A (p.Arg104His) rs770318536 0.00001
NM_000070.3(CAPN3):c.1117T>C (p.Trp373Arg) rs775453643
NM_000083.3(CLCN1):c.2789del (p.Pro930fs) rs749552056
NM_000257.4(MYH7):c.4844AGA[2] (p.Lys1617del) rs121913648
NM_000334.4(SCN4A):c.2023C>G (p.Arg675Gly) rs121908556
NM_000426.4(LAMA2):c.6038del (p.Leu2012_Leu2013insTer) rs398123380
NM_000540.3(RYR1):c.14416A>G (p.Asn4806Asp) rs886039586
NM_000540.3(RYR1):c.14437C>T (p.His4813Tyr) rs2145895177
NM_000540.3(RYR1):c.7522C>T (p.Arg2508Cys) rs118192178
NM_001005361.3(DNM2):c.1393C>T (p.Arg465Trp) rs121909091
NM_001130987.2(DYSF):c.3762del (p.Asp1255fs) rs758107024
NM_001159699.2(FHL1):c.509A>C (p.His170Pro) rs1484795726
NM_001927.4(DES):c.1289-2A>G rs398122940
NM_002334.4(LRP4):c.3698A>C (p.Glu1233Ala) rs1940998166
NM_004281.4(BAG3):c.625C>T (p.Pro209Ser) rs1589630141
NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp) rs58932704
NM_170707.4(LMNA):c.674G>A (p.Arg225Gln) rs199474724
NM_170707.4(LMNA):c.746G>A (p.Arg249Gln) rs59332535

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