ClinVar Miner

Variants with conflicting interpretations studied for Congenital Myasthenic Syndrome, Dominant/Recessive

Coded as:
Minimum review status of the submission for Congenital Myasthenic Syndrome, Dominant/Recessive: Y axis collection method of the submission for Congenital Myasthenic Syndrome, Dominant/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 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
72 65 0 20 24 0 0 44

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, Dominant/Recessive likely benign benign
uncertain significance 16 12
likely benign 0 17
benign 3 0

Condition to condition summary #

Total conditions: 6
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
not specified 0 8 0 17 13 0 0 30
Lethal multiple pterygium syndrome 0 5 0 3 7 0 0 10
Myasthenic syndrome, congenital, 4a, slow-channel 0 4 0 5 5 0 0 10
Myasthenic syndrome, congenital, 2a, slow-channel 0 0 0 1 4 0 0 5
Multiple pterygium syndrome Escobar type 0 72 0 2 0 0 0 2
not provided 0 6 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 44
Download table as spreadsheet
HGVS dbSNP
NM_000079.3(CHRNA1):c.1002+9G>A rs368959759
NM_000079.3(CHRNA1):c.1073A>T (p.Asp358Val) rs6739001
NM_000079.3(CHRNA1):c.111C>T (p.Ser37=) rs886055151
NM_000079.3(CHRNA1):c.1233G>T (p.Glu411Asp) rs61737716
NM_000079.3(CHRNA1):c.1332C>T (p.Ala444=) rs771587252
NM_000079.3(CHRNA1):c.540+4G>C rs112674580
NM_000079.3(CHRNA1):c.643G>A (p.Asp215Asn) rs148304857
NM_000079.3(CHRNA1):c.960C>T (p.His320=) rs2229957
NM_000080.3(CHRNE):c.*5C>T rs747566295
NM_000080.3(CHRNE):c.*6A>G rs55806270
NM_000080.3(CHRNE):c.-8G>A rs77481135
NM_000080.3(CHRNE):c.1017C>G (p.Ser339=) rs114454383
NM_000080.3(CHRNE):c.1033-6C>T rs2075763
NM_000080.3(CHRNE):c.1220-5G>A rs188564977
NM_000080.3(CHRNE):c.1242C>A (p.Gly414=) rs370770111
NM_000080.3(CHRNE):c.1305A>G (p.Arg435=) rs55681486
NM_000080.3(CHRNE):c.1402G>C (p.Val468Leu) rs139171143
NM_000080.3(CHRNE):c.1425C>T (p.Leu475=) rs151193377
NM_000080.3(CHRNE):c.345-7C>T rs72835059
NM_000080.3(CHRNE):c.45C>T (p.Leu15=) rs34563587
NM_000080.3(CHRNE):c.465C>T (p.Phe155=) rs139625105
NM_000080.3(CHRNE):c.519C>T (p.Ala173=) rs33970119
NM_000080.3(CHRNE):c.53G>T (p.Gly18Val) rs4790235
NM_000080.3(CHRNE):c.723C>T (p.Leu241=) rs886053126
NM_000080.3(CHRNE):c.901G>A (p.Val301Met) rs140023380
NM_000080.3(CHRNE):c.917+15C>G rs12942540
NM_000080.3(CHRNE):c.966C>T (p.Cys322=) rs56377005
NM_000747.2(CHRNB1):c.*18C>T rs79747991
NM_000747.2(CHRNB1):c.-13G>C rs199903026
NM_000747.2(CHRNB1):c.1044+9G>A rs143871421
NM_000747.2(CHRNB1):c.1225C>G (p.Pro409Ala) rs202144045
NM_000747.2(CHRNB1):c.1259T>C (p.Ile420Thr) rs76927517
NM_000747.2(CHRNB1):c.342G>A (p.Val114=) rs75019736
NM_000747.2(CHRNB1):c.610+6T>C rs2302765
NM_000747.2(CHRNB1):c.821-9C>T rs76001008
NM_000747.2(CHRNB1):c.903C>T (p.Thr301=) rs117168441
NM_000751.2(CHRND):c.*52A>G rs2767
NM_000751.2(CHRND):c.*885T>C rs1004175
NM_000751.2(CHRND):c.1047+9T>C rs3762528
NM_000751.2(CHRND):c.120G>A (p.Lys40=) rs55921262
NM_000751.2(CHRND):c.1530C>T (p.Asn510=) rs114463490
NM_000751.2(CHRND):c.411C>T (p.Gly137=) rs373578965
NM_001039523.2(CHRNA1):c.730C>T (p.Leu244=) rs150638770
NM_005199.5(CHRNG):c.445G>A (p.Ala149Thr) rs2289080

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