ClinVar Miner

Variants in gene MYO3A with conflicting interpretations

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
197 45 0 15 7 0 1 23

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 1 0 0 0
likely pathogenic 1 0 1 0 0
uncertain significance 0 1 0 5 2
likely benign 0 0 5 0 14
benign 0 0 2 14 0

All variants with conflicting interpretations #

Total variants: 23
Download table as spreadsheet
HGVS dbSNP
NM_017433.5(MYO3A):c.1053+11_1053+12inv
NM_017433.5(MYO3A):c.1500G>A (p.Ala500=) rs146797033
NM_017433.5(MYO3A):c.1559C>T (p.Ala520Val) rs72787346
NM_017433.5(MYO3A):c.1643C>A (p.Pro548His) rs143918373
NM_017433.5(MYO3A):c.2133G>A (p.Leu711=) rs56147819
NM_017433.5(MYO3A):c.2169T>C (p.Asn723=) rs114982270
NM_017433.5(MYO3A):c.2705A>C (p.Asn902Thr) rs142823078
NM_017433.5(MYO3A):c.3028G>A (p.Glu1010Lys) rs61729833
NM_017433.5(MYO3A):c.3037C>T (p.Arg1013Cys) rs140154015
NM_017433.5(MYO3A):c.3094G>A (p.Ala1032Thr) rs34918608
NM_017433.5(MYO3A):c.3255C>T (p.Ser1085=) rs35541310
NM_017433.5(MYO3A):c.3408C>T (p.Phe1136=) rs61731629
NM_017433.5(MYO3A):c.3538G>A (p.Glu1180Lys) rs184043065
NM_017433.5(MYO3A):c.3585G>T (p.Val1195=) rs372169216
NM_017433.5(MYO3A):c.3859C>A (p.Pro1287Thr) rs35575696
NM_017433.5(MYO3A):c.4250C>T (p.Thr1417Ile) rs34151474
NM_017433.5(MYO3A):c.4462A>G (p.Lys1488Glu) rs34204285
NM_017433.5(MYO3A):c.4465A>G (p.Ile1489Val) rs147376000
NM_017433.5(MYO3A):c.4508_4511del (p.Asn1503fs) rs757660866
NM_017433.5(MYO3A):c.4530C>T (p.Tyr1510=) rs139504940
NM_017433.5(MYO3A):c.4681C>T (p.Arg1561Ter) rs138593211
NM_017433.5(MYO3A):c.533C>T (p.Thr178Ile) rs33968748
NM_017433.5(MYO3A):c.585+4A>T rs202189844

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