ClinVar Miner

Variants with conflicting interpretations studied for Familial hypertrophic cardiomyopathy 10

Coded as:
Minimum review status of the submission for Familial hypertrophic cardiomyopathy 10: Y axis collection method of the submission for Familial hypertrophic cardiomyopathy 10:
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
39 28 0 16 4 0 7 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 10 pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 6 2 1 1
likely pathogenic 2 0 1 0 0
uncertain significance 3 5 0 1 1
likely benign 1 1 3 0 4
benign 0 0 2 9 0

Condition to condition summary #

Total conditions: 14
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
Hypertrophic cardiomyopathy 0 2 0 5 3 0 3 9
not specified 0 21 0 6 1 0 3 9
Cardiovascular phenotype 0 7 0 6 1 0 2 8
not provided 0 12 0 3 1 0 4 7
Familial hypertrophic cardiomyopathy 10 75 10 0 4 1 0 2 6
Primary familial hypertrophic cardiomyopathy 0 5 0 1 2 0 2 4
Cardiomyopathy 0 10 0 2 0 0 1 3
Death in early adulthood 0 0 0 1 0 0 0 1
Death in infancy 0 0 0 0 0 0 1 1
Dilated cardiomyopathy 0 0 0 0 0 0 1 1
Dilated cardiomyopathy 1S 0 0 0 0 0 0 1 1
Familial hypertrophic cardiomyopathy 1 0 1 0 0 1 0 1 1
Familial isolated restrictive cardiomyopathy 0 0 0 0 0 0 1 1
MYL2-Related Disorders 0 0 0 1 0 0 1 1

All variants with conflicting interpretations #

Total variants: 24
Download table as spreadsheet
HGVS dbSNP
NM_000432.3(MYL2):c.132T>C (p.Ile44=) rs2301610
NM_000432.3(MYL2):c.141C>A (p.Asn47Lys) rs199474808
NM_000432.3(MYL2):c.170-19T>C rs115522476
NM_000432.3(MYL2):c.173G>A (p.Arg58Gln) rs104894369
NM_000432.3(MYL2):c.239C>A (p.Thr80Asn) rs587782965
NM_000432.3(MYL2):c.243G>T (p.Val81=) rs368851472
NM_000432.3(MYL2):c.274+9G>A rs371405579
NM_000432.3(MYL2):c.279G>A (p.Ala93=) rs28645088
NM_000432.3(MYL2):c.3+9A>G rs201763406
NM_000432.3(MYL2):c.308T>G (p.Phe103Cys) rs547860537
NM_000432.3(MYL2):c.33G>A (p.Gly11=) rs199742269
NM_000432.3(MYL2):c.342G>A (p.Leu114=) rs199572927
NM_000432.3(MYL2):c.353+16G>A rs572363699
NM_000432.3(MYL2):c.36C>T (p.Gly12=) rs139794370
NM_000432.3(MYL2):c.37G>A (p.Ala13Thr) rs104894363
NM_000432.3(MYL2):c.3G>A (p.Met1Ile) rs1555258369
NM_000432.3(MYL2):c.4-14C>T rs12301951
NM_000432.3(MYL2):c.401A>C (p.Glu134Ala) rs143139258
NM_000432.3(MYL2):c.403-1G>C rs199474813
NM_000432.3(MYL2):c.403-1G>T rs199474813
NM_000432.3(MYL2):c.456C>T (p.Tyr152=) rs199815885
NM_000432.3(MYL2):c.484G>A (p.Gly162Arg) rs199474814
NM_000432.3(MYL2):c.52T>C (p.Phe18Leu) rs104894370
NM_000432.3(MYL2):c.64G>A (p.Glu22Lys) rs104894368

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