ClinVar Miner

Variants in gene combination ACTC1, GJD2-DT 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
386 15 0 10 9 0 6 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.

pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 3 0 0 0
likely pathogenic 3 0 6 0 0
uncertain significance 0 6 0 4 6
likely benign 0 0 4 0 7
benign 0 0 6 7 0

All variants with conflicting interpretations #

Total variants: 24
Download table as spreadsheet
NM_005159.5(ACTC1):c.-22-15C>G rs368171271
NM_005159.5(ACTC1):c.-36C>G rs886051091
NM_005159.5(ACTC1):c.1038C>T (p.Ser346=) rs748062476
NM_005159.5(ACTC1):c.1092C>T (p.Tyr364=) rs140261885
NM_005159.5(ACTC1):c.1112T>C (p.Ile371Thr) rs730880407
NM_005159.5(ACTC1):c.129+32C>A rs76013827
NM_005159.5(ACTC1):c.129+6C>G rs564151494
NM_005159.5(ACTC1):c.219C>T (p.Ile73=) rs376566924
NM_005159.5(ACTC1):c.275_277del (p.Phe92del) rs730880388
NM_005159.5(ACTC1):c.28C>A (p.Leu10Met) rs397517057
NM_005159.5(ACTC1):c.301G>A (p.Glu101Lys) rs193922680
NM_005159.5(ACTC1):c.310C>T (p.Pro104Ser) rs397517059
NM_005159.5(ACTC1):c.475G>A (p.Asp159Asn) rs397517063
NM_005159.5(ACTC1):c.500T>C (p.Ile167Thr) rs730880409
NM_005159.5(ACTC1):c.513C>T (p.Tyr171=) rs145023222
NM_005159.5(ACTC1):c.809-58TG[17] rs59431308
NM_005159.5(ACTC1):c.809-58TG[21] rs59431308
NM_005159.5(ACTC1):c.809-58TG[22] rs59431308
NM_005159.5(ACTC1):c.809-58TG[24] rs59431308
NM_005159.5(ACTC1):c.809-58TG[25] rs59431308
NM_005159.5(ACTC1):c.809-58TG[26] rs59431308
NM_005159.5(ACTC1):c.903A>G (p.Leu301=) rs138347995
NM_005159.5(ACTC1):c.941G>A (p.Arg314His) rs121912673
NM_005159.5(ACTC1):c.968C>T (p.Ala323Val) rs730880404

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