ClinVar Miner

Variants in gene MYO6 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 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
86 95 0 22 6 0 1 28

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 1 0 0
likely pathogenic 1 0 0 0 0
uncertain significance 1 0 0 5 2
likely benign 0 0 5 0 21
benign 0 0 2 21 0

All variants with conflicting interpretations #

Total variants: 28
Download table as spreadsheet
HGVS dbSNP
NM_004999.3(MYO6):c.*12C>T rs12606
NM_004999.3(MYO6):c.1030G>A (p.Val344Ile) rs199798449
NM_004999.3(MYO6):c.1078+19dupT rs144408691
NM_004999.3(MYO6):c.1120T>C (p.Tyr374His) rs61732664
NM_004999.3(MYO6):c.1144G>A (p.Asp382Asn) rs111530469
NM_004999.3(MYO6):c.1176A>G (p.Thr392=) rs2273857
NM_004999.3(MYO6):c.1224-4A>G rs144031818
NM_004999.3(MYO6):c.1546+7_1546+8delGT rs3831003
NM_004999.3(MYO6):c.1656G>A (p.Lys552=) rs111033431
NM_004999.3(MYO6):c.1674+13A>G rs6925845
NM_004999.3(MYO6):c.1722C>T (p.Asp574=) rs11756446
NM_004999.3(MYO6):c.188-3T>C rs373199401
NM_004999.3(MYO6):c.2517T>C (p.Gly839=) rs112597191
NM_004999.3(MYO6):c.2534C>T (p.Thr845Ile) rs55662069
NM_004999.3(MYO6):c.2635G>A (p.Asp879Asn) rs60970824
NM_004999.3(MYO6):c.2982G>A (p.Glu994=) rs55905349
NM_004999.3(MYO6):c.3246T>C (p.Tyr1082=) rs138437852
NM_004999.3(MYO6):c.3303C>T (p.Cys1101=) rs9443199
NM_004999.3(MYO6):c.3333G>A (p.Val1111=) rs114970874
NM_004999.3(MYO6):c.3667G>A (p.Asp1223Asn) rs41269323
NM_004999.3(MYO6):c.3824A>G (p.Tyr1275Cys) rs146461956
NM_004999.3(MYO6):c.441C>T (p.Ile147=) rs565770950
NM_004999.3(MYO6):c.553+11T>C rs12210963
NM_004999.3(MYO6):c.647A>T (p.Glu216Val) rs121912559
NM_004999.3(MYO6):c.737A>G (p.His246Arg) rs121912560
NM_004999.4(MYO6):c.1025C>T (p.Ala342Val) rs145564837
NM_004999.4(MYO6):c.2836C>T (p.Arg946Cys) rs141845119
NM_004999.4(MYO6):c.475G>A (p.Glu159Lys) rs201507590

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