ClinVar Miner

Variants with conflicting interpretations studied for Catecholaminergic polymorphic ventricular tachycardia 1

Coded as:
Minimum review status of the submission for Catecholaminergic polymorphic ventricular tachycardia 1: Collection method of the submission for Catecholaminergic polymorphic ventricular tachycardia 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 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
5938 196 0 85 128 0 12 197

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 1 pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 9 3 0 0
likely pathogenic 9 0 8 0 0
uncertain significance 2 9 0 67 4
likely benign 0 0 121 0 34
benign 0 0 34 75 0

Condition to condition summary #

Total conditions: 3
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
Arrhythmogenic right ventricular dysplasia 2 0 147 0 50 116 0 1 164
Catecholaminergic polymorphic ventricular tachycardia 1 6040 174 0 42 68 0 10 117
Arrhythmogenic right ventricular dysplasia 2; Catecholaminergic polymorphic ventricular tachycardia 1 0 13 0 0 4 0 1 5

All variants with conflicting interpretations #

Total variants: 197
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001035.3(RYR2):c.8873A>G (p.Gln2958Arg) rs34967813 0.20632
NM_001035.3(RYR2):c.5656G>A (p.Gly1886Ser) rs3766871 0.06110
NM_001035.3(RYR2):c.*647C>T rs16835894 0.03547
NM_001035.3(RYR2):c.4198A>G (p.Ser1400Gly) rs56229512 0.01531
NM_001035.3(RYR2):c.1519G>A (p.Val507Ile) rs16835270 0.01462
NM_001035.3(RYR2):c.11988C>T (p.Gly3996=) rs56226196 0.01290
NM_001035.3(RYR2):c.*787C>A rs143228973 0.00997
NM_001035.3(RYR2):c.13977G>A (p.Glu4659=) rs78369334 0.00989
NM_001035.3(RYR2):c.2204-7C>G rs147479514 0.00944
NM_001035.3(RYR2):c.11835C>T (p.Val3945=) rs78939657 0.00787
NM_001035.3(RYR2):c.3407C>T (p.Ala1136Val) rs72549415 0.00737
NM_001035.3(RYR2):c.13260+14A>G rs141528541 0.00700
NM_001035.3(RYR2):c.2046A>G (p.Thr682=) rs116098815 0.00675
NM_001035.3(RYR2):c.576+7G>C rs10925392 0.00643
NM_001035.3(RYR2):c.*130G>A rs12725752 0.00614
NM_001035.3(RYR2):c.14299-12A>G rs41267519 0.00603
NM_001035.3(RYR2):c.14809-15C>G rs790897 0.00538
NM_001035.3(RYR2):c.1863C>T (p.His621=) rs17686573 0.00461
NM_001035.3(RYR2):c.14029C>T (p.Leu4677=) rs112864477 0.00446
NM_001035.3(RYR2):c.7365C>T (p.Asp2455=) rs72549416 0.00413
NM_001035.3(RYR2):c.7038A>C (p.Ala2346=) rs116601686 0.00399
NM_001035.3(RYR2):c.7488C>T (p.Leu2496=) rs143906555 0.00397
NM_001035.3(RYR2):c.13740G>A (p.Thr4580=) rs115854664 0.00333
NM_001035.3(RYR2):c.11476+15C>T rs192323827 0.00312
NM_001035.3(RYR2):c.9666C>T (p.Ala3222=) rs116442127 0.00308
NM_001035.3(RYR2):c.1218G>A (p.Ser406=) rs147389346 0.00283
NM_001035.3(RYR2):c.10254C>T (p.Asn3418=) rs138073811 0.00264
NM_001035.3(RYR2):c.13983C>T (p.Tyr4661=) rs138498780 0.00254
NM_001035.3(RYR2):c.4068C>T (p.Pro1356=) rs199821105 0.00240
NM_001035.3(RYR2):c.6555+6G>A rs372661934 0.00228
NM_001035.3(RYR2):c.6555+8C>T rs1759122 0.00211
NM_001035.3(RYR2):c.2760G>A (p.Glu920=) rs186181155 0.00205
NM_001035.3(RYR2):c.10324-4A>G rs72751287 0.00203
NM_001035.3(RYR2):c.14756+12C>T rs2275693 0.00156
NM_001035.3(RYR2):c.2301G>T (p.Ser767=) rs117588730 0.00150
NM_001035.3(RYR2):c.9067+12C>T rs112365440 0.00143
NM_001035.3(RYR2):c.10641G>A (p.Thr3547=) rs144256966 0.00132
NM_001035.3(RYR2):c.5586C>T (p.Asp1862=) rs193922628 0.00123
NM_001035.3(RYR2):c.4605G>A (p.Pro1535=) rs201916326 0.00117
NM_001035.3(RYR2):c.12159G>A (p.Glu4053=) rs41267517 0.00116
NM_001035.3(RYR2):c.828A>G (p.Arg276=) rs180711819 0.00086
NM_001035.3(RYR2):c.3030T>C (p.Asp1010=) rs138064129 0.00071
NM_001035.3(RYR2):c.8162T>C (p.Ile2721Thr) rs201500134 0.00069
NM_001035.3(RYR2):c.11557+14C>T rs374155447 0.00066
NM_001035.3(RYR2):c.3038G>A (p.Arg1013Gln) rs149514924 0.00063
NM_001035.3(RYR2):c.2935G>T (p.Ala979Ser) rs202015519 0.00061
NM_001035.3(RYR2):c.11092-10A>T rs577119352 0.00059
NM_001035.3(RYR2):c.3054T>C (p.Tyr1018=) rs113422365 0.00058
NM_001035.3(RYR2):c.*980T>C rs147077947 0.00054
NM_001035.3(RYR2):c.1548T>C (p.Asp516=) rs146129084 0.00053
NM_001035.3(RYR2):c.10941T>G (p.Pro3647=) rs370332882 0.00051
NM_001035.3(RYR2):c.10231-4T>C rs117180147 0.00048
NM_001035.3(RYR2):c.3380A>G (p.Glu1127Gly) rs200525962 0.00048
NM_001035.3(RYR2):c.1822C>T (p.His608Tyr) rs727504718 0.00046
NM_001035.3(RYR2):c.5619A>G (p.Ala1873=) rs373282364 0.00046
NM_001035.3(RYR2):c.6337G>A (p.Val2113Met) rs186906598 0.00045
NM_001035.3(RYR2):c.1053A>G (p.Thr351=) rs187565743 0.00043
NM_001035.3(RYR2):c.463+14G>A rs776302587 0.00042
NM_001035.3(RYR2):c.12919C>T (p.Arg4307Cys) rs200092869 0.00038
NM_001035.3(RYR2):c.*399A>G rs184537159 0.00035
NM_001035.3(RYR2):c.649A>G (p.Ile217Val) rs200642525 0.00029
NM_001035.3(RYR2):c.10231-5C>T rs186326951 0.00028
NM_001035.3(RYR2):c.13291G>A (p.Glu4431Lys) rs571985775 0.00028
NM_001035.3(RYR2):c.*55T>C rs192720264 0.00027
NM_001035.3(RYR2):c.*1108A>G rs540171235 0.00026
NM_001035.3(RYR2):c.2574G>A (p.Thr858=) rs367992907 0.00025
NM_001035.3(RYR2):c.6689-12T>C rs370972311 0.00025
NM_001035.3(RYR2):c.-63G>T rs578020342 0.00024
NM_001035.3(RYR2):c.12492G>A (p.Gln4164=) rs377293019 0.00024
NM_001035.3(RYR2):c.13137C>A (p.Ile4379=) rs369917806 0.00021
NM_001035.3(RYR2):c.577-14G>A rs148019277 0.00021
NM_001035.3(RYR2):c.14220C>T (p.Ala4740=) rs368971586 0.00020
NM_001035.3(RYR2):c.1006-12C>T rs367998175 0.00019
NM_001035.3(RYR2):c.3356G>A (p.Arg1119His) rs201312753 0.00019
NM_001035.3(RYR2):c.5294C>G (p.Ser1765Cys) rs564806219 0.00018
NM_001035.3(RYR2):c.10962A>C (p.Glu3654Asp) rs547005691 0.00016
NM_001035.3(RYR2):c.2267G>A (p.Ser756Asn) rs193922623 0.00016
NM_001035.3(RYR2):c.2755G>A (p.Val919Met) rs201079716 0.00016
NM_001035.3(RYR2):c.4445G>A (p.Arg1482His) rs373024059 0.00016
NM_001035.3(RYR2):c.4652A>G (p.Asn1551Ser) rs185237690 0.00016
NM_001035.3(RYR2):c.4465T>C (p.Cys1489Arg) rs200450676 0.00014
NM_001035.3(RYR2):c.3153C>T (p.Arg1051=) rs397516524 0.00013
NM_001035.3(RYR2):c.5373C>A (p.Thr1791=) rs765283048 0.00013
NM_001035.3(RYR2):c.9963G>A (p.Pro3321=) rs199730192 0.00013
NM_001035.3(RYR2):c.7542G>A (p.Leu2514=) rs371088367 0.00011
NM_001035.3(RYR2):c.8419A>G (p.Ile2807Val) rs1394059438 0.00011
NM_001035.3(RYR2):c.9655G>A (p.Val3219Met) rs371147744 0.00011
NM_001035.3(RYR2):c.4094C>T (p.Ala1365Val) rs373261115 0.00010
NM_001035.3(RYR2):c.5571G>A (p.Pro1857=) rs371934582 0.00010
NM_001035.3(RYR2):c.9067+10C>T rs372631657 0.00010
NM_001035.3(RYR2):c.3598+13T>C rs145104355 0.00009
NM_001035.3(RYR2):c.4044G>A (p.Lys1348=) rs755391572 0.00009
NM_001035.3(RYR2):c.13718G>A (p.Arg4573His) rs371157286 0.00008
NM_001035.3(RYR2):c.684C>T (p.Leu228=) rs72549417 0.00008
NM_001035.3(RYR2):c.7158C>T (p.Asn2386=) rs376057173 0.00008
NM_001035.3(RYR2):c.9619A>G (p.Asn3207Asp) rs372601642 0.00008
NM_001035.3(RYR2):c.10017C>T (p.His3339=) rs376439588 0.00007
NM_001035.3(RYR2):c.1144G>A (p.Val382Met) rs370057029 0.00007
NM_001035.3(RYR2):c.11766G>A (p.Glu3922=) rs774625105 0.00007
NM_001035.3(RYR2):c.1511G>A (p.Arg504His) rs201600087 0.00006
NM_001035.3(RYR2):c.2643A>C (p.Ile881=) rs751869107 0.00006
NM_001035.3(RYR2):c.2772G>A (p.Leu924=) rs780664060 0.00006
NM_001035.3(RYR2):c.4695T>C (p.Pro1565=) rs368826662 0.00006
NM_001035.3(RYR2):c.5614G>A (p.Asp1872Asn) rs761770946 0.00006
NM_001035.3(RYR2):c.848+8G>C rs373075790 0.00006
NM_001035.3(RYR2):c.5454T>C (p.Phe1818=) rs201218861 0.00005
NM_001035.3(RYR2):c.*218T>G rs373132792 0.00004
NM_001035.3(RYR2):c.10035G>A (p.Arg3345=) rs754976419 0.00004
NM_001035.3(RYR2):c.10495-14A>G rs727505057 0.00004
NM_001035.3(RYR2):c.11557+15G>A rs761490797 0.00004
NM_001035.3(RYR2):c.1249C>G (p.Arg417Gly) rs564822776 0.00004
NM_001035.3(RYR2):c.12858C>T (p.Ser4286=) rs185482345 0.00004
NM_001035.3(RYR2):c.8309T>C (p.Ile2770Thr) rs397516550 0.00004
NM_001035.3(RYR2):c.9435T>C (p.Ser3145=) rs774657844 0.00004
NM_001035.3(RYR2):c.982G>A (p.Ala328Thr) rs201669522 0.00004
NM_001035.3(RYR2):c.11877G>A (p.Ser3959=) rs754610647 0.00003
NM_001035.3(RYR2):c.12027C>T (p.Asn4009=) rs763374929 0.00003
NM_001035.3(RYR2):c.1241G>A (p.Arg414His) rs371121679 0.00003
NM_001035.3(RYR2):c.13175A>G (p.Lys4392Arg) rs753733164 0.00003
NM_001035.3(RYR2):c.13593G>A (p.Lys4531=) rs548313130 0.00003
NM_001035.3(RYR2):c.1789A>G (p.Ile597Val) rs770408945 0.00003
NM_001035.3(RYR2):c.3660T>A (p.Asp1220Glu) rs1019112544 0.00003
NM_001035.3(RYR2):c.7493C>T (p.Ala2498Val) rs374191985 0.00003
NM_001035.3(RYR2):c.837G>A (p.Thr279=) rs769682840 0.00003
NM_001035.3(RYR2):c.8515-7A>G rs766622060 0.00003
NM_001035.3(RYR2):c.8913T>C (p.Ile2971=) rs755520825 0.00003
NM_001035.3(RYR2):c.9755A>G (p.His3252Arg) rs760379293 0.00003
NM_001035.3(RYR2):c.10517G>A (p.Arg3506Gln) rs748805290 0.00002
NM_001035.3(RYR2):c.1404G>A (p.Glu468=) rs768538183 0.00002
NM_001035.3(RYR2):c.4899T>C (p.Pro1633=) rs1060503853 0.00002
NM_001035.3(RYR2):c.5428G>C (p.Val1810Leu) rs754364233 0.00002
NM_001035.3(RYR2):c.6083G>A (p.Arg2028His) rs1313042151 0.00002
NM_001035.3(RYR2):c.8018C>T (p.Ala2673Val) rs869025513 0.00002
NM_001035.3(RYR2):c.10008G>A (p.Glu3336=) rs753175584 0.00001
NM_001035.3(RYR2):c.10200T>C (p.Ala3400=) rs779316628 0.00001
NM_001035.3(RYR2):c.10551C>A (p.Gly3517=) rs768797598 0.00001
NM_001035.3(RYR2):c.11146-6G>A rs886046277 0.00001
NM_001035.3(RYR2):c.12315C>T (p.Leu4105=) rs184625125 0.00001
NM_001035.3(RYR2):c.12333C>T (p.Asn4111=) rs748716535 0.00001
NM_001035.3(RYR2):c.12334G>A (p.Asp4112Asn) rs1695348814 0.00001
NM_001035.3(RYR2):c.12627G>A (p.Ser4209=) rs3753631 0.00001
NM_001035.3(RYR2):c.12752A>G (p.Asn4251Ser) rs750064223 0.00001
NM_001035.3(RYR2):c.13220G>A (p.Ser4407Asn) rs755585430 0.00001
NM_001035.3(RYR2):c.13410C>T (p.Tyr4470=) rs183933829 0.00001
NM_001035.3(RYR2):c.13482T>C (p.Tyr4494=) rs886046279 0.00001
NM_001035.3(RYR2):c.13656T>C (p.His4552=) rs397516512 0.00001
NM_001035.3(RYR2):c.13665C>T (p.Ile4555=) rs375213838 0.00001
NM_001035.3(RYR2):c.14085A>C (p.Ser4695=) rs758566439 0.00001
NM_001035.3(RYR2):c.1444C>T (p.Leu482=) rs117903753 0.00001
NM_001035.3(RYR2):c.14808+12A>C rs886046281 0.00001
NM_001035.3(RYR2):c.2175T>C (p.Tyr725=) rs758813812 0.00001
NM_001035.3(RYR2):c.2223A>G (p.Val741=) rs117242563 0.00001
NM_001035.3(RYR2):c.2253T>G (p.Thr751=) rs762905211 0.00001
NM_001035.3(RYR2):c.2808G>A (p.Ser936=) rs1057521205 0.00001
NM_001035.3(RYR2):c.3067-14G>C rs757471501 0.00001
NM_001035.3(RYR2):c.3105C>T (p.Tyr1035=) rs747358776 0.00001
NM_001035.3(RYR2):c.3271G>A (p.Glu1091Lys) rs730880191 0.00001
NM_001035.3(RYR2):c.3537T>C (p.Gly1179=) rs397516526 0.00001
NM_001035.3(RYR2):c.365G>A (p.Arg122His) rs727503396 0.00001
NM_001035.3(RYR2):c.3729A>C (p.Thr1243=) rs536080941 0.00001
NM_001035.3(RYR2):c.5763G>A (p.Arg1921=) rs886046270 0.00001
NM_001035.3(RYR2):c.6688+13C>A rs1262322008 0.00001
NM_001035.3(RYR2):c.9352G>A (p.Gly3118Arg) rs730880194 0.00001
NM_001035.3(RYR2):c.9646G>A (p.Glu3216Lys) rs760965671 0.00001
NM_001035.3(RYR2):c.9742C>T (p.Arg3248Cys) rs1290534109 0.00001
NM_001035.3(RYR2):c.9927A>G (p.Lys3309=) rs184937795 0.00001
NM_001035.3(RYR2):c.9995C>T (p.Thr3332Met) rs774437805 0.00001
NM_001035.3(RYR2):c.11427G>A (p.Glu3809=) rs553350678
NM_001035.3(RYR2):c.12608C>T (p.Ala4203Val) rs794728792
NM_001035.3(RYR2):c.13476+8_13476+11dup rs864309562
NM_001035.3(RYR2):c.13822C>T (p.Arg4608Trp) rs794728799
NM_001035.3(RYR2):c.13823G>A (p.Arg4608Gln) rs1553328170
NM_001035.3(RYR2):c.13957G>T (p.Val4653Phe) rs121918604
NM_001035.3(RYR2):c.14481C>A (p.Ile4827=) rs114303476
NM_001035.3(RYR2):c.14481C>T (p.Ile4827=) rs114303476
NM_001035.3(RYR2):c.14482G>A (p.Gly4828Arg) rs1402571360
NM_001035.3(RYR2):c.14569A>G (p.Ile4857Val) rs1085307524
NM_001035.3(RYR2):c.14777T>C (p.Ile4926Thr) rs1663793007
NM_001035.3(RYR2):c.14876G>A (p.Arg4959Gln) rs794728811
NM_001035.3(RYR2):c.239A>G (p.Glu80Gly) rs794728706
NM_001035.3(RYR2):c.2910C>T (p.Tyr970=) rs575899061
NM_001035.3(RYR2):c.344A>G (p.Tyr115Cys) rs1558698334
NM_001035.3(RYR2):c.3766C>A (p.Pro1256Thr) rs769729405
NM_001035.3(RYR2):c.4693C>G (p.Pro1565Ala) rs778783933
NM_001035.3(RYR2):c.4734C>T (p.Pro1578=) rs201880756
NM_001035.3(RYR2):c.5154G>A (p.Arg1718=) rs114534505
NM_001035.3(RYR2):c.5663G>A (p.Arg1888Gln) rs869025511
NM_001035.3(RYR2):c.6899A>G (p.Asp2300Gly) rs1681104142
NM_001035.3(RYR2):c.7035A>T (p.Ala2345=) rs1681182291
NM_001035.3(RYR2):c.7202G>A (p.Arg2401His) rs794728756
NM_001035.3(RYR2):c.7233C>A (p.Ala2411=) rs367994477
NM_001035.3(RYR2):c.7599T>C (p.Pro2533=) rs886046274
NM_001035.3(RYR2):c.9129-7T>C rs1466669135
NM_001035.3(RYR2):c.9318T>A (p.Ser3106=) rs2797436
NM_001035.3(RYR2):c.9601G>A (p.Val3201Met) rs762549821
NM_001232.4(CASQ2):c.546del (p.Phe182fs) rs763955301
NM_006073.4(TRDN):c.502G>T (p.Glu168Ter) rs545032318

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