ClinVar Miner

Variants with conflicting interpretations studied for Arrhythmogenic right ventricular dysplasia 10

Coded as:
Minimum review status of the submission for Arrhythmogenic right ventricular dysplasia 10: Collection method of the submission for Arrhythmogenic right ventricular dysplasia 10:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:

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
1420 52 0 35 27 0 10 69

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
Arrhythmogenic right ventricular dysplasia 10 pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 17 6 1 0
likely pathogenic 17 0 5 0 0
uncertain significance 6 5 0 23 5
likely benign 1 0 23 0 18
benign 0 0 5 18 0

Condition to condition summary #

Total conditions: 1
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 10 1420 52 0 35 27 0 10 69

All variants with conflicting interpretations #

Total variants: 69
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HGVS dbSNP gnomAD frequency
NM_001943.5(DSG2):c.2137G>A (p.Glu713Lys) rs79241126 0.05477
NM_001943.5(DSG2):c.217-5G>T rs80073511 0.01156
NM_001943.5(DSG2):c.3243C>T (p.Val1081=) rs11542379 0.01020
NM_001943.5(DSG2):c.1543G>A (p.Val515Ile) rs2230235 0.00917
NM_001943.5(DSG2):c.3135A>C (p.Thr1045=) rs8095704 0.00801
NM_001943.5(DSG2):c.2587A>C (p.Met863Leu) rs16962093 0.00654
NM_001943.5(DSG2):c.2759T>G (p.Val920Gly) rs142841727 0.00439
NM_001943.5(DSG2):c.266A>G (p.Tyr89Cys) rs2230232 0.00406
NM_001943.5(DSG2):c.1051A>G (p.Ser351Gly) rs139326669 0.00230
NM_001943.5(DSG2):c.3209C>T (p.Thr1070Met) rs149617776 0.00223
NM_001943.5(DSG2):c.2484T>C (p.Asp828=) rs201051252 0.00199
NM_001943.5(DSG2):c.1550C>T (p.Ala517Val) rs200509948 0.00184
NM_001943.5(DSG2):c.166G>A (p.Val56Met) rs121913013 0.00150
NM_001943.5(DSG2):c.3295A>G (p.Thr1099Ala) rs79068489 0.00137
NM_001943.5(DSG2):c.1875G>C (p.Leu625=) rs35743180 0.00128
NM_001943.5(DSG2):c.2703A>G (p.Lys901=) rs113591687 0.00107
NM_001943.5(DSG2):c.1911C>T (p.Cys637=) rs201654341 0.00066
NM_001943.5(DSG2):c.852T>C (p.Asn284=) rs62095193 0.00061
NM_001943.5(DSG2):c.1003A>G (p.Thr335Ala) rs191564916 0.00057
NM_001943.5(DSG2):c.1914A>G (p.Gly638=) rs200395484 0.00055
NM_001943.5(DSG2):c.437G>T (p.Arg146Leu) rs113451409 0.00054
NM_001943.5(DSG2):c.44T>A (p.Leu15Gln) rs372174546 0.00054
NM_001943.5(DSG2):c.1781T>C (p.Leu594Pro) rs199681901 0.00038
NM_001943.5(DSG2):c.1376A>G (p.Tyr459Cys) rs576404380 0.00033
NM_001943.5(DSG2):c.2643C>T (p.Thr881=) rs180695545 0.00018
NM_001943.5(DSG2):c.1851C>T (p.Leu617=) rs202057770 0.00015
NM_001943.5(DSG2):c.45+9C>G rs376573409 0.00013
NM_001943.5(DSG2):c.1597G>A (p.Val533Ile) rs199761749 0.00010
NM_001943.5(DSG2):c.147C>T (p.Arg49=) rs531036279 0.00008
NM_001943.5(DSG2):c.2334+9G>A rs776516070 0.00005
NM_001943.5(DSG2):c.2780C>T (p.Pro927Leu) rs146402368 0.00005
NM_001943.5(DSG2):c.2959G>T (p.Val987Phe) rs141405267 0.00004
NM_001943.5(DSG2):c.390C>T (p.Tyr130=) rs369489095 0.00004
NM_001943.5(DSG2):c.1303G>A (p.Asp435Asn) rs370509593 0.00003
NM_001943.5(DSG2):c.2234C>T (p.Thr745Met) rs727504783 0.00003
NM_001943.5(DSG2):c.3G>A (p.Met1Ile) rs1021457619 0.00002
NM_001943.5(DSG2):c.1479C>T (p.Asn493=) rs778100657 0.00001
NM_001943.5(DSG2):c.1520G>A (p.Cys507Tyr) rs121913009 0.00001
NM_001943.5(DSG2):c.1758T>C (p.Leu586=) rs773812422 0.00001
NM_001943.5(DSG2):c.2178T>C (p.Ser726=) rs749897373 0.00001
NM_001943.5(DSG2):c.269C>T (p.Thr90Ile) rs772744115 0.00001
NM_001943.5(DSG2):c.3039C>A (p.Tyr1013Ter) rs539821357 0.00001
NM_001943.5(DSG2):c.447T>C (p.Val149=) rs1389484271 0.00001
NM_001943.5(DSG2):c.581C>T (p.Ser194Leu) rs374875442 0.00001
NM_001943.5(DSG2):c.874C>T (p.Arg292Cys) rs770921270 0.00001
NM_001943.5(DSG2):c.990C>T (p.Asn330=) rs140575919 0.00001
NM_001943.5(DSG2):c.991G>A (p.Glu331Lys) rs121913012 0.00001
NM_001943.5(DSG2):c.1319_1320del (p.Val440fs) rs775256998
NM_001943.5(DSG2):c.1385del (p.Asn462fs) rs2510917341
NM_001943.5(DSG2):c.1826dup (p.Leu610fs) rs1039633976
NM_001943.5(DSG2):c.1863C>G (p.Ala621=) rs768150787
NM_001943.5(DSG2):c.1932T>C (p.Phe644=) rs2073265410
NM_001943.5(DSG2):c.2257del (p.Ala753fs) rs1567933176
NM_001943.5(DSG2):c.2434G>T (p.Gly812Cys) rs121913010
NM_001943.5(DSG2):c.2533del (p.Lys844_Ile845insTer) rs1375081885
NM_001943.5(DSG2):c.2620del (p.Thr874fs) rs755243947
NM_001943.5(DSG2):c.2817del (p.Tyr940fs) rs1567934773
NM_001943.5(DSG2):c.2955del (p.Val986fs) rs1064794709
NM_001943.5(DSG2):c.3052dup (p.Glu1018fs) rs1261674855
NM_001943.5(DSG2):c.3059_3062del (p.Glu1020fs) rs397516706
NM_001943.5(DSG2):c.45+10G>T rs776975980
NM_001943.5(DSG2):c.512_516del (p.Leu171fs) rs1568105371
NM_001943.5(DSG2):c.523+1G>T rs553299589
NM_001943.5(DSG2):c.523+2T>C rs397516709
NM_001943.5(DSG2):c.803_810dup (p.Val271fs) rs2073149649
NM_001943.5(DSG2):c.828+13C>A rs180926981
NM_001943.5(DSG2):c.882dup (p.Val295fs) rs1187924885
NM_001943.5(DSG2):c.918G>A (p.Trp306Ter) rs121913007
NM_001943.5(DSG2):c.994G>A (p.Gly332Arg) rs2510912985

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