ClinVar Miner

Variants with conflicting interpretations studied for Catecholaminergic polymorphic ventricular tachycardia type 1

Coded as:
Minimum review status of the submission for Catecholaminergic polymorphic ventricular tachycardia type 1: Y axis collection method of the submission for Catecholaminergic polymorphic ventricular tachycardia type 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
31 14 4 7 10 1 9 26

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
Catecholaminergic polymorphic ventricular tachycardia type 1 pathogenic likely pathogenic uncertain significance likely benign benign risk factor
pathogenic 4 4 1 0 0 0
likely pathogenic 4 0 5 0 0 0
uncertain significance 1 1 0 7 3 1
likely benign 1 0 3 0 0 0
benign 0 0 0 1 0 0

Condition to condition summary #

Total conditions: 17
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 4 0 1 8 0 2 11
not provided 0 11 1 2 4 0 3 10
Cardiovascular phenotype 0 5 1 1 5 0 2 9
Cardiomyopathy 0 4 0 1 6 0 1 8
Catecholaminergic polymorphic ventricular tachycardia 0 9 0 2 3 0 3 8
Catecholaminergic polymorphic ventricular tachycardia type 1 65 1 4 2 0 0 0 5
Long QT syndrome 0 0 0 0 1 0 1 2
Ventricular tachycardia, catecholaminergic polymorphic, 4 0 0 0 2 0 0 0 2
Arrhythmia 0 0 0 0 1 0 0 1
Arrhythmogenic right ventricular cardiomyopathy 0 1 0 0 1 0 0 1
Arrhythmogenic right ventricular cardiomyopathy, type 10 0 0 0 0 1 0 1 1
Brugada syndrome 0 0 0 0 1 0 0 1
Death in infancy 0 0 0 0 0 0 1 1
Dilated cardiomyopathy 1BB 0 0 0 0 0 1 0 1
Familial dilated cardiomyopathy 0 0 0 0 0 0 1 1
Hypertrophic cardiomyopathy 0 2 0 0 1 0 0 1
Ventricular tachycardia, catecholaminergic polymorphic, 4; Long QT syndrome 14 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 26
Download table as spreadsheet
HGVS dbSNP
NM_000256.3(MYBPC3):c.503T>C (p.Val168Ala) rs727505267
NM_001018005.2(TPM1):c.375-3C>T rs202228866
NM_001035.3(RYR2):c.10324-4A>G rs72751287
NM_001035.3(RYR2):c.11570A>G (p.Tyr3857Cys) rs587782975
NM_001035.3(RYR2):c.12602A>G (p.Gln4201Arg) rs121918605
NM_001035.3(RYR2):c.13476+8_13476+11dup rs864309562
NM_001035.3(RYR2):c.13489C>T (p.Arg4497Cys) rs121918600
NM_001035.3(RYR2):c.13528G>A (p.Ala4510Thr) rs397516510
NM_001035.3(RYR2):c.13957G>T (p.Val4653Phe) rs121918604
NM_001035.3(RYR2):c.14711G>A (p.Gly4904Asp) rs886038888
NM_001035.3(RYR2):c.14864G>A (p.Gly4955Glu) rs1553343100
NM_001035.3(RYR2):c.14876G>A (p.Arg4959Gln) rs794728811
NM_001035.3(RYR2):c.1847C>T (p.Ser616Leu) rs730880187
NM_001035.3(RYR2):c.3038G>A (p.Arg1013Gln) rs149514924
NM_001035.3(RYR2):c.3320C>T (p.Thr1107Met) rs200236750
NM_001035.3(RYR2):c.365G>A (p.Arg122His) rs727503396
NM_001035.3(RYR2):c.4652A>G (p.Asn1551Ser) rs185237690
NM_001035.3(RYR2):c.6337G>A (p.Val2113Met) rs186906598
NM_001035.3(RYR2):c.6982C>T (p.Pro2328Ser) rs121918603
NM_001035.3(RYR2):c.7493C>T (p.Ala2498Val) rs374191985
NM_001148.6(ANK2):c.10708G>A (p.Glu3570Lys) rs180843436
NM_001943.5(DSG2):c.166G>A (p.Val56Met) rs121913013
NM_006888.6(CALM1):c.161A>T (p.Asn54Ile) rs267607276
NM_006888.6(CALM1):c.293A>G (p.Asn98Ser) rs267607277
NM_170707.4(LMNA):c.1201C>T (p.Arg401Cys) rs61094188
NM_198056.2(SCN5A):c.52C>T (p.Arg18Trp) rs199473044

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