ClinVar Miner

Variants in gene PHGDH 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
147 23 0 5 9 0 0 13

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 0 0 0
uncertain significance 0 0 0 7 3
likely benign 0 0 7 0 2
benign 0 0 3 2 0

All variants with conflicting interpretations #

Total variants: 13
Download table as spreadsheet
NM_006623.4(PHGDH):c.1030C>T (p.Arg344Ter) rs769256568
NM_006623.4(PHGDH):c.1116C>T (p.Pro372=) rs587662790
NM_006623.4(PHGDH):c.1257G>A (p.Gly419=) rs374303746
NM_006623.4(PHGDH):c.1365A>G (p.Pro455=) rs1264262485
NM_006623.4(PHGDH):c.1543C>T (p.Leu515=) rs148721434
NM_006623.4(PHGDH):c.1559C>A (p.Ala520Glu) rs151275800
NM_006623.4(PHGDH):c.290+2T>C rs886041874
NM_006623.4(PHGDH):c.296C>G (p.Pro99Arg) rs182600362
NM_006623.4(PHGDH):c.372G>A (p.Ala124=) rs146740411
NM_006623.4(PHGDH):c.519G>A (p.Gly173=) rs754326499
NM_006623.4(PHGDH):c.781G>A (p.Val261Met) rs267606947
NM_006623.4(PHGDH):c.804G>A (p.Arg268=) rs587719252
NM_006623.4(PHGDH):c.834C>A (p.Val278=) rs147866831

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