ClinVar Miner

Variants with conflicting interpretations studied for Atrial septal defect

Coded as:
Minimum review status of the submission for Atrial septal defect: Y axis collection method of the submission for Atrial septal defect:
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
2 117 0 38 45 0 0 82

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
Atrial septal defect uncertain significance likely benign benign
uncertain significance 0 38 19
likely benign 1 0 37
benign 0 1 0

Condition to condition summary #

Total conditions: 16
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 9 0 37 35 0 0 71
Familial hypertrophic cardiomyopathy 14 0 11 0 19 25 0 0 44
Cardiovascular phenotype 0 11 0 28 11 0 0 39
Cardiomyopathy 0 7 0 12 14 0 0 26
not provided 0 12 0 4 5 0 0 9
Familial hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atrial septal defect 5 0 1 0 1 2 0 0 3
Dilated Cardiomyopathy, Dominant 0 195 0 1 1 0 0 2
Hypertrophic cardiomyopathy 0 195 0 1 1 0 0 2
Left ventricular noncompaction cardiomyopathy 0 83 0 1 1 0 0 2
Atrial septal defect 198 2 0 0 1 0 0 1
Atrial septal defect 3 0 0 0 0 1 0 0 1
Dilated cardiomyopathy 1EE 0 0 0 0 1 0 0 1
Familial restrictive cardiomyopathy 0 82 0 0 1 0 0 1
Myopathy, distal, 1 0 1 0 1 0 0 0 1
Myosin storage myopathy 0 1 0 1 0 0 0 1
Scapuloperoneal myopathy 0 1 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 82
Download table as spreadsheet
HGVS dbSNP
NM_000257.3(MYH7):c.*113G>A rs17794387
NM_002471.3(MYH6):c.-5C>A rs183611755
NM_002471.3(MYH6):c.-64G>C rs79618123
NM_002471.3(MYH6):c.-8G>A rs28730779
NM_002471.3(MYH6):c.1071C>T (p.Ile357=) rs58131640
NM_002471.3(MYH6):c.1122G>A (p.Ala374=) rs148091079
NM_002471.3(MYH6):c.1131C>T (p.Asp377=) rs61742472
NM_002471.3(MYH6):c.1335C>T (p.Asn445=) rs61731179
NM_002471.3(MYH6):c.1410C>T (p.Asp470=) rs139886074
NM_002471.3(MYH6):c.166G>A (p.Gly56Arg) rs28711516
NM_002471.3(MYH6):c.1753G>A (p.Gly585Ser) rs150415679
NM_002471.3(MYH6):c.1809C>T (p.Asn603=) rs186134696
NM_002471.3(MYH6):c.1944G>A (p.Thr648=) rs367742240
NM_002471.3(MYH6):c.2097C>T (p.Gly699=) rs149734381
NM_002471.3(MYH6):c.2151C>T (p.Tyr717=) rs76202964
NM_002471.3(MYH6):c.2430-14C>T rs190342289
NM_002471.3(MYH6):c.2685+14A>T rs765118655
NM_002471.3(MYH6):c.2806G>T (p.Ala936Ser) rs141704264
NM_002471.3(MYH6):c.2928+5G>A rs28730772
NM_002471.3(MYH6):c.2946G>A (p.Glu982=) rs145274612
NM_002471.3(MYH6):c.3164G>A (p.Arg1055Gln) rs540893860
NM_002471.3(MYH6):c.3199A>G (p.Ser1067Gly) rs145508517
NM_002471.3(MYH6):c.3302T>C (p.Val1101Ala) rs365990
NM_002471.3(MYH6):c.330G>A (p.Ala110=) rs77679218
NM_002471.3(MYH6):c.3388G>A (p.Ala1130Thr) rs28730771
NM_002471.3(MYH6):c.3408G>A (p.Lys1136=) rs28730770
NM_002471.3(MYH6):c.3480C>T (p.Ser1160=) rs373345984
NM_002471.3(MYH6):c.3609C>G (p.Ala1203=) rs149369904
NM_002471.3(MYH6):c.3627C>T (p.Ile1209=) rs147871745
NM_002471.3(MYH6):c.36G>A (p.Ala12=) rs141014719
NM_002471.3(MYH6):c.393G>A (p.Leu131=) rs17277970
NM_002471.3(MYH6):c.3978+8C>T rs367866050
NM_002471.3(MYH6):c.3979-10C>A rs28730768
NM_002471.3(MYH6):c.3979-10C>G rs28730768
NM_002471.3(MYH6):c.3979-11C>G rs200618133
NM_002471.3(MYH6):c.3979-14C>A rs372226248
NM_002471.3(MYH6):c.3979-7delT rs397516766
NM_002471.3(MYH6):c.3979-8C>T rs555976716
NM_002471.3(MYH6):c.3979-8delC rs193922652
NM_002471.3(MYH6):c.3979-8dupC rs193922652
NM_002471.3(MYH6):c.399G>A (p.Val133=) rs78891557
NM_002471.3(MYH6):c.4011G>A (p.Ser1337=) rs451794
NM_002471.3(MYH6):c.411G>A (p.Glu137=) rs2277474
NM_002471.3(MYH6):c.4206C>T (p.Ala1402=) rs111638554
NM_002471.3(MYH6):c.427C>A (p.Arg143=) rs2277473
NM_002471.3(MYH6):c.4293G>A (p.Met1431Ile) rs201016285
NM_002471.3(MYH6):c.4320T>A (p.Ala1440=) rs145566711
NM_002471.3(MYH6):c.4359+10G>A rs368183862
NM_002471.3(MYH6):c.4359+13C>T rs8022522
NM_002471.3(MYH6):c.4360-7C>T rs58949384
NM_002471.3(MYH6):c.4527G>A (p.Glu1509=) rs34855944
NM_002471.3(MYH6):c.4651-12A>C rs193922653
NM_002471.3(MYH6):c.4778A>T (p.Gln1593Leu) rs45574136
NM_002471.3(MYH6):c.4838T>C (p.Val1613Ala) rs61742476
NM_002471.3(MYH6):c.4906C>T (p.Arg1636Cys) rs149460065
NM_002471.3(MYH6):c.4914T>C (p.Ala1638=) rs178640
NM_002471.3(MYH6):c.4959+12C>T rs371661383
NM_002471.3(MYH6):c.4959+13G>A rs28730765
NM_002471.3(MYH6):c.4960-9G>A rs557113705
NM_002471.3(MYH6):c.4980C>T (p.Asp1660=) rs382872
NM_002471.3(MYH6):c.5112G>A (p.Ala1704=) rs150450178
NM_002471.3(MYH6):c.5259C>T (p.Ala1753=) rs8004990
NM_002471.3(MYH6):c.5367G>A (p.Glu1789=) rs753335327
NM_002471.3(MYH6):c.5403G>A (p.Glu1801=) rs762151922
NM_002471.3(MYH6):c.5410C>A (p.Gln1804Lys) rs144571463
NM_002471.3(MYH6):c.5439G>A (p.Gln1813=) rs200854143
NM_002471.3(MYH6):c.5475G>A (p.Glu1825=) rs79143968
NM_002471.3(MYH6):c.5566-7C>T rs200509899
NM_002471.3(MYH6):c.5598A>G (p.Leu1866=) rs17091278
NM_002471.3(MYH6):c.5652C>T (p.Ala1884=) rs200662317
NM_002471.3(MYH6):c.800-11A>G rs434273
NM_002471.3(MYH6):c.831G>T (p.Gln277His) rs140660481
NM_002471.3(MYH6):c.86G>A (p.Arg29Gln) rs150574114
NM_002471.3(MYH6):c.909G>A (p.Leu303=) rs17091623
NM_002471.3(MYH6):c.981C>T (p.Ser327=) rs148407931
NM_002471.3(MYH6):c.999C>T (p.Thr333=) rs78107039
NM_004387.3(NKX2-5):c.543G>A (p.Gln181=) rs72554028
NM_005159.4(ACTC1):c.-36C>G rs886051091
NM_005159.4(ACTC1):c.1053G>C (p.Leu351=) rs151321743
NM_005159.4(ACTC1):c.537T>A (p.Arg179=) rs750131288
NM_005159.4(ACTC1):c.809-16_809-13delTGTG rs59431308
NM_005159.4(ACTC1):c.927T>C (p.Pro309=) rs2307493

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