ClinVar Miner

Variants in gene MYL2 with conflicting interpretations

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Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:
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 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
181 24 0 11 3 0 6 20

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.

pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 3 2 0 0
likely pathogenic 3 0 5 0 0
uncertain significance 2 5 0 3 0
likely benign 0 0 3 0 8
benign 0 0 0 8 0

All variants with conflicting interpretations #

Total variants: 20
Download table as spreadsheet
HGVS dbSNP
NM_000432.3(MYL2):c.170-19T>C rs115522476
NM_000432.3(MYL2):c.275-7G>A rs373241541
NM_000432.3(MYL2):c.308T>G (p.Phe103Cys) rs547860537
NM_000432.3(MYL2):c.353+16G>A rs572363699
NM_000432.3(MYL2):c.403-1G>C rs199474813
NM_000432.3(MYL2):c.431_432del (p.Pro144fs) rs1566147422
NM_000432.3(MYL2):c.488A>G (p.Glu163Gly) rs397516407
NM_000432.3(MYL2):c.94-3C>T rs112865045
NM_000432.4(MYL2):c.141C>A (p.Asn47Lys) rs199474808
NM_000432.4(MYL2):c.163G>T (p.Ala55Ser) rs727504425
NM_000432.4(MYL2):c.173G>A (p.Arg58Gln) rs104894369
NM_000432.4(MYL2):c.243G>T (p.Val81=) rs368851472
NM_000432.4(MYL2):c.275-14G>C rs375703502
NM_000432.4(MYL2):c.279G>A (p.Ala93=) rs28645088
NM_000432.4(MYL2):c.342G>A (p.Leu114=) rs199572927
NM_000432.4(MYL2):c.353+12C>A rs186323458
NM_000432.4(MYL2):c.355G>A (p.Val119Ile) rs730880940
NM_000432.4(MYL2):c.381G>A (p.Ala127=) rs2233261
NM_000432.4(MYL2):c.401A>C (p.Glu134Ala) rs143139258
NM_000432.4(MYL2):c.484G>A (p.Gly162Arg) rs199474814

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