ClinVar Miner

Variants in gene combination LOC114827851, MYH6 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 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
40 14 0 9 9 0 0 16

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.

uncertain significance likely benign benign
uncertain significance 0 6 5
likely benign 6 0 9
benign 5 9 0

All variants with conflicting interpretations #

Total variants: 16
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HGVS dbSNP
NM_002471.3(MYH6):c.-5C>A rs183611755
NM_002471.3(MYH6):c.-8G>A rs28730779
NM_002471.3(MYH6):c.166G>A (p.Gly56Arg) rs28711516
NM_002471.3(MYH6):c.210T>C (p.Thr70=) rs147397431
NM_002471.3(MYH6):c.330G>A (p.Ala110=) rs77679218
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.399G>A (p.Val133=) rs78891557
NM_002471.3(MYH6):c.411G>A (p.Glu137=) rs2277474
NM_002471.3(MYH6):c.427C>A (p.Arg143=) rs2277473
NM_002471.3(MYH6):c.492C>T (p.Tyr164=) rs201380776
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.67C>T (p.Arg23Cys) rs587782959
NM_002471.3(MYH6):c.70C>A (p.Leu24Ile) rs573489857
NM_002471.3(MYH6):c.86G>A (p.Arg29Gln) rs150574114

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