ClinVar Miner

Variants in gene HCFC1 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
124 19 0 15 2 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 2 1
likely benign 2 0 15
benign 1 15 0

All variants with conflicting interpretations #

Total variants: 16
Download table as spreadsheet
HGVS dbSNP
NM_005334.2(HCFC1):c.2109G>A (p.Thr703=) rs3027888
NM_005334.2(HCFC1):c.2283C>G (p.Thr761=) rs2071134
NM_005334.2(HCFC1):c.2841A>G (p.Pro947=) rs730106
NM_005334.2(HCFC1):c.2872A>G (p.Thr958Ala) rs3027884
NM_005334.2(HCFC1):c.2886G>A (p.Leu962=) rs3027883
NM_005334.2(HCFC1):c.3290A>C (p.Asn1097Thr) rs201404751
NM_005334.2(HCFC1):c.3490T>C (p.Ser1164Pro) rs1051152
NM_005334.2(HCFC1):c.3492C>T (p.Ser1164=) rs376049260
NM_005334.2(HCFC1):c.3568G>A (p.Gly1190Ser) rs185987427
NM_005334.2(HCFC1):c.3794C>T (p.Ser1265Leu) rs189548179
NM_005334.2(HCFC1):c.4159G>A (p.Val1387Met) rs200164926
NM_005334.2(HCFC1):c.4185G>A (p.Ala1395=) rs2071133
NM_005334.2(HCFC1):c.4442C>T (p.Thr1481Met) rs199798029
NM_005334.2(HCFC1):c.4542G>T (p.Leu1514=) rs3027878
NM_005334.2(HCFC1):c.5418G>A (p.Met1806Ile) rs199511876
NM_005334.2(HCFC1):c.5859C>T (p.Cys1953=) rs3027875

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