ClinVar Miner

Variants with conflicting interpretations studied for Familial hypertrophic cardiomyopathy 14

Coded as:
Minimum review status of the submission for Familial hypertrophic cardiomyopathy 14: Y axis collection method of the submission for Familial hypertrophic cardiomyopathy 14:
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
141 91 0 57 56 0 2 99

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
Familial hypertrophic cardiomyopathy 14 pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 0 1 1 0
uncertain significance 1 1 0 8 1
likely benign 2 1 31 0 5
benign 0 0 18 53 0

Condition to condition summary #

Total conditions: 19
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 83 0 27 21 0 1 48
Hypertrophic cardiomyopathy 0 14 0 19 26 0 1 45
Atrial septal defect 0 11 0 19 25 0 0 44
Dilated Cardiomyopathy, Dominant 0 11 0 19 25 0 0 44
Cardiovascular phenotype 0 61 0 22 9 0 0 31
Cardiomyopathy 0 36 0 11 11 0 0 22
not provided 0 32 0 2 8 0 0 10
Primary familial hypertrophic cardiomyopathy 0 4 0 1 4 0 0 5
Familial hypertrophic cardiomyopathy 14 328 0 0 1 1 0 1 3
Dilated cardiomyopathy 1EE 0 0 0 1 0 0 1 2
Familial dilated cardiomyopathy 0 0 0 0 2 0 0 2
Primary dilated cardiomyopathy 0 1 0 0 2 0 0 2
Atrial septal defect 3 0 1 0 1 0 0 0 1
Dilated cardiomyopathy 0 0 0 0 1 0 0 1
Familial hypertrophic cardiomyopathy 14; Sudden cardiac death 0 0 0 0 0 0 1 1
Familial hypertrophic cardiomyopathy 1; Dilated cardiomyopathy 1EE; Familial hypertrophic cardiomyopathy 14; Atrial septal defect 3; Sick sinus syndrome 3, susceptibility to 0 6 0 0 1 0 0 1
Inborn genetic diseases 0 0 0 0 1 0 0 1
Primary dilated cardiomyopathy; Migraine; Hemiplegia 0 1 0 0 1 0 1 1
Wolff-Parkinson-White pattern 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 99
Download table as spreadsheet
HGVS dbSNP
NM_002471.3(MYH6):c.1071C>T (p.Ile357=) rs58131640
NM_002471.3(MYH6):c.1083G>T (p.Gly361=) rs138928022
NM_002471.3(MYH6):c.1122G>A (p.Ala374=) rs148091079
NM_002471.3(MYH6):c.1131C>G (p.Asp377Glu) rs61742472
NM_002471.3(MYH6):c.1132G>A (p.Gly378Ser) rs148962966
NM_002471.3(MYH6):c.1141+8G>T rs377327277
NM_002471.3(MYH6):c.1252G>A (p.Val418Met) rs147606900
NM_002471.3(MYH6):c.1275C>T (p.Ile425=) rs61742470
NM_002471.3(MYH6):c.1410C>T (p.Asp470=) rs139886074
NM_002471.3(MYH6):c.1449C>T (p.Asn483=) rs145447555
NM_002471.3(MYH6):c.1582-7C>T rs374941865
NM_002471.3(MYH6):c.1753G>A (p.Gly585Ser) rs150415679
NM_002471.3(MYH6):c.1763A>C (p.Asp588Ala) rs142992009
NM_002471.3(MYH6):c.1989C>T (p.Asn663=) rs28730774
NM_002471.3(MYH6):c.2071G>A (p.Val691Ile) rs148915045
NM_002471.3(MYH6):c.2097C>T (p.Gly699=) rs149734381
NM_002471.3(MYH6):c.210T>C (p.Thr70=) rs147397431
NM_002471.3(MYH6):c.2151C>T (p.Tyr717=) rs76202964
NM_002471.3(MYH6):c.2430-4C>A rs376527296
NM_002471.3(MYH6):c.2579G>A (p.Arg860His) rs115845031
NM_002471.3(MYH6):c.2614C>T (p.Arg872Cys) rs201193346
NM_002471.3(MYH6):c.2806G>T (p.Ala936Ser) rs141704264
NM_002471.3(MYH6):c.2890G>T (p.Ala964Ser) rs144907522
NM_002471.3(MYH6):c.2928+5G>A rs28730772
NM_002471.3(MYH6):c.2946G>A (p.Glu982=) rs145274612
NM_002471.3(MYH6):c.3010G>T (p.Ala1004Ser) rs143978652
NM_002471.3(MYH6):c.3164G>A (p.Arg1055Gln) rs540893860
NM_002471.3(MYH6):c.3195G>C (p.Gln1065His) rs267606904
NM_002471.3(MYH6):c.3230A>T (p.Gln1077Leu) rs377716628
NM_002471.3(MYH6):c.3297G>A (p.Glu1099=) rs144957142
NM_002471.3(MYH6):c.3302_3303invTG (p.Val1101Ala)
NM_002471.3(MYH6):c.330G>A (p.Ala110=) rs77679218
NM_002471.3(MYH6):c.3343-3delC rs1027186100
NM_002471.3(MYH6):c.3408G>A (p.Lys1136=) rs28730770
NM_002471.3(MYH6):c.3468C>T (p.Gly1156=) rs545420992
NM_002471.3(MYH6):c.3480C>T (p.Ser1160=) rs373345984
NM_002471.3(MYH6):c.3573C>T (p.Ala1191=) rs727505358
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.3787G>A (p.Val1263Met) rs375819633
NM_002471.3(MYH6):c.3883G>C (p.Glu1295Gln) rs34935550
NM_002471.3(MYH6):c.3893C>T (p.Ala1298Val) rs368588052
NM_002471.3(MYH6):c.3927T>C (p.Ser1309=) rs115742584
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.3979-7T>C rs535111647
NM_002471.3(MYH6):c.3979-7_3979-5delTCC rs397516764
NM_002471.3(MYH6):c.3979-7delT rs397516766
NM_002471.3(MYH6):c.3979-8C>T rs555976716
NM_002471.3(MYH6):c.3979-8_3979-7delinsGC rs727503235
NM_002471.3(MYH6):c.3979-8delC rs193922652
NM_002471.3(MYH6):c.3979-8dupC rs193922652
NM_002471.3(MYH6):c.3979-9C>A rs57660219
NM_002471.3(MYH6):c.399G>A (p.Val133=) rs78891557
NM_002471.3(MYH6):c.4136C>T (p.Thr1379Met) rs145611185
NM_002471.3(MYH6):c.4206C>T (p.Ala1402=) rs111638554
NM_002471.3(MYH6):c.4245A>G (p.Ser1415=) rs779697115
NM_002471.3(MYH6):c.4293G>A (p.Met1431Ile) rs201016285
NM_002471.3(MYH6):c.4299C>T (p.Asp1433=) rs765006624
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+5A>G rs193283041
NM_002471.3(MYH6):c.4359+8A>C rs188675676
NM_002471.3(MYH6):c.4360-7C>G rs58949384
NM_002471.3(MYH6):c.4360-7C>T rs58949384
NM_002471.3(MYH6):c.4416A>G (p.Ser1472=) rs140800076
NM_002471.3(MYH6):c.4505G>A (p.Arg1502Gln) rs199936506
NM_002471.3(MYH6):c.4527G>A (p.Glu1509=) rs34855944
NM_002471.3(MYH6):c.4536G>A (p.Ser1512=) rs142539180
NM_002471.3(MYH6):c.4595G>T (p.Arg1532Leu) rs34330111
NM_002471.3(MYH6):c.4778A>T (p.Gln1593Leu) rs45574136
NM_002471.3(MYH6):c.4782G>A (p.Arg1594=) rs142823394
NM_002471.3(MYH6):c.4838T>C (p.Val1613Ala) rs61742476
NM_002471.3(MYH6):c.4905C>T (p.Asn1635=) rs143048583
NM_002471.3(MYH6):c.4906C>T (p.Arg1636Cys) rs149460065
NM_002471.3(MYH6):c.492C>T (p.Tyr164=) rs201380776
NM_002471.3(MYH6):c.4986G>A (p.Ala1662=) rs77416370
NM_002471.3(MYH6):c.5112G>A (p.Ala1704=) rs150450178
NM_002471.3(MYH6):c.5367G>A (p.Glu1789=) rs753335327
NM_002471.3(MYH6):c.5400C>T (p.Asp1800=) rs144329079
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.5601G>A (p.Gln1867=) rs148984154
NM_002471.3(MYH6):c.5652C>T (p.Ala1884=) rs200662317
NM_002471.3(MYH6):c.622G>A (p.Asp208Asn) rs142027794
NM_002471.3(MYH6):c.635C>T (p.Ala212Val) rs780456381
NM_002471.3(MYH6):c.643-5C>T rs199859986
NM_002471.3(MYH6):c.824T>A (p.Ile275Asn) rs201327273
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.898+6C>T rs370158816
NM_002471.3(MYH6):c.909G>A (p.Leu303=) rs17091623
NM_002471.3(MYH6):c.999C>T (p.Thr333=) rs78107039

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