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
167 75 0 7 17 0 4 24

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
pathogenic 0 0 2 1
uncertain significance 4 2 0 13
likely benign 0 0 2 0
benign 0 0 2 7

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 provided 0 26 0 2 7 0 2 10
Hypertrophic cardiomyopathy 0 12 0 5 2 0 1 8
not specified 0 37 0 2 6 0 1 8
Atrial septal defect 0 9 0 5 2 0 0 7
Dilated Cardiomyopathy, Dominant 0 9 0 5 2 0 0 7
Cardiomyopathy 0 11 0 1 2 0 0 3
Cardiovascular phenotype 0 36 0 0 3 0 0 3
Dilated cardiomyopathy 1EE 0 1 0 0 0 0 2 2
Familial hypertrophic cardiomyopathy 14 264 0 0 0 0 0 2 2
Dilated cardiomyopathy 0 1 0 0 1 0 0 1
Familial hypertrophic cardiomyopathy 14; Sudden cardiac death 0 0 0 0 0 0 1 1
Inborn genetic diseases 0 0 0 0 1 0 0 1
Primary dilated cardiomyopathy 0 3 0 0 1 0 0 1
Primary dilated cardiomyopathy; Migraine; Hemiplegia 0 0 0 0 0 0 1 1
Ventricular tachycardia; Dilated cardiomyopathy 0 0 0 0 1 0 0 1
Wolff-Parkinson-White pattern 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 24
Download table as spreadsheet
HGVS dbSNP
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.2151C>T (p.Tyr717=) rs76202964
NM_002471.3(MYH6):c.2384G>A (p.Arg795Gln) rs267606907
NM_002471.3(MYH6):c.2591C>T (p.Thr864Met) rs200153625
NM_002471.3(MYH6):c.2928+5G>A rs28730772
NM_002471.3(MYH6):c.3010G>T (p.Ala1004Ser) rs143978652
NM_002471.3(MYH6):c.3105+9T>C rs1555333942
NM_002471.3(MYH6):c.3195G>C (p.Gln1065His) rs267606904
NM_002471.3(MYH6):c.3468C>T (p.Gly1156=) rs545420992
NM_002471.3(MYH6):c.3787G>A (p.Val1263Met) rs375819633
NM_002471.3(MYH6):c.3867G>T (p.Leu1289Phe) rs138127105
NM_002471.3(MYH6):c.3979-8C>T rs555976716
NM_002471.3(MYH6):c.4136C>T (p.Thr1379Met) rs145611185
NM_002471.3(MYH6):c.4369G>A (p.Glu1457Lys) rs267606905
NM_002471.3(MYH6):c.4527G>A (p.Glu1509=) rs34855944
NM_002471.3(MYH6):c.5403G>A (p.Glu1801=) rs762151922
NM_002471.3(MYH6):c.5598A>G (p.Leu1866=) rs17091278
NM_002471.3(MYH6):c.5642A>G (p.Lys1881Arg) rs750886219
NM_002471.3(MYH6):c.635C>T (p.Ala212Val) rs780456381
NM_002471.3(MYH6):c.679G>A (p.Ala227Thr) rs201828188
NM_002471.3(MYH6):c.824T>A (p.Ile275Asn) rs201327273
NM_002471.3(MYH6):c.898+6C>T rs370158816
NM_002471.3(MYH6):c.999C>T (p.Thr333=) rs78107039

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.