ClinVar Miner

Variants in gene combination ACTC1, LOC101928174 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
135 100 0 11 7 0 10 27

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 8 0 0
uncertain significance 2 8 0 6 2
likely benign 0 0 6 0 8
benign 0 0 2 8 0

All variants with conflicting interpretations #

Total variants: 27
Download table as spreadsheet
HGVS dbSNP
NM_005159.4(ACTC1):c.-22-15C>G rs368171271
NM_005159.4(ACTC1):c.-36C>G rs886051091
NM_005159.4(ACTC1):c.1053G>C (p.Leu351=) rs151321743
NM_005159.4(ACTC1):c.1092C>T (p.Tyr364=) rs140261885
NM_005159.4(ACTC1):c.1112T>C (p.Ile371Thr) rs730880407
NM_005159.4(ACTC1):c.129+19_129+20insT rs386134228
NM_005159.4(ACTC1):c.129+23dupC rs148433308
NM_005159.4(ACTC1):c.129+6C>G rs564151494
NM_005159.4(ACTC1):c.219C>T (p.Ile73=) rs376566924
NM_005159.4(ACTC1):c.268C>T (p.His90Tyr) rs121912676
NM_005159.4(ACTC1):c.275_277delTCT (p.Phe92del) rs730880388
NM_005159.4(ACTC1):c.301G>A (p.Glu101Lys) rs193922680
NM_005159.4(ACTC1):c.309C>A (p.His103Gln) rs769303249
NM_005159.4(ACTC1):c.310C>T (p.Pro104Ser) rs397517059
NM_005159.4(ACTC1):c.454+9G>A rs148695567
NM_005159.4(ACTC1):c.475G>A (p.Asp159Asn) rs397517063
NM_005159.4(ACTC1):c.500T>C (p.Ile167Thr) rs730880409
NM_005159.4(ACTC1):c.513C>T (p.Tyr171=) rs145023222
NM_005159.4(ACTC1):c.537T>A (p.Arg179=) rs750131288
NM_005159.4(ACTC1):c.793C>G (p.Gln265Glu) rs727504323
NM_005159.4(ACTC1):c.806T>C (p.Ile269Thr) rs397517071
NM_005159.4(ACTC1):c.809-16_809-13delTGTG rs59431308
NM_005159.4(ACTC1):c.812T>C (p.Met271Thr) rs730880401
NM_005159.4(ACTC1):c.903A>G (p.Leu301=) rs138347995
NM_005159.4(ACTC1):c.927T>C (p.Pro309=) rs2307493
NM_005159.4(ACTC1):c.941G>A (p.Arg314His) rs121912673
NM_005159.4(ACTC1):c.968C>T (p.Ala323Val) rs730880404

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