ClinVar Miner

Variants with conflicting interpretations studied for Pyridoxine-dependent epilepsy

Coded as:
Minimum review status of the submission for Pyridoxine-dependent epilepsy: Y axis collection method of the submission for Pyridoxine-dependent epilepsy:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
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
298 17 0 3 9 0 2 14

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.

All conditions
Pyridoxine-dependent epilepsy pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 1 1 0 0
likely pathogenic 1 0 1 0 0
uncertain significance 1 1 0 9 0
likely benign 0 0 9 0 2
benign 0 0 0 2 0

Condition to condition summary #

Total conditions: 1
Download table as spreadsheet
Condition 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
Pyridoxine-dependent epilepsy 298 17 0 3 9 0 2 14

All variants with conflicting interpretations #

Total variants: 14
Download table as spreadsheet
HGVS dbSNP
NM_001182.4(ALDH7A1):c.-80T>G rs563928852
NM_001182.5(ALDH7A1):c.1009-6G>A rs138056453
NM_001182.5(ALDH7A1):c.1016A>G (p.His339Arg) rs199767457
NM_001182.5(ALDH7A1):c.1017T>C (p.His339=) rs200394848
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln) rs121912707
NM_001182.5(ALDH7A1):c.1406G>A (p.Arg469His) rs147940248
NM_001182.5(ALDH7A1):c.141_142insA (p.Arg48fs) rs1296037862
NM_001182.5(ALDH7A1):c.1567A>G (p.Thr523Ala) rs61757684
NM_001182.5(ALDH7A1):c.200C>T (p.Thr67Met) rs543181020
NM_001182.5(ALDH7A1):c.423G>C (p.Val141=) rs199653162
NM_001182.5(ALDH7A1):c.528T>C (p.His176=) rs757135576
NM_001182.5(ALDH7A1):c.615C>T (p.Asn205=) rs369380330
NM_001182.5(ALDH7A1):c.664A>G (p.Thr222Ala) rs777829351
NM_001182.5(ALDH7A1):c.913+8T>C rs766528289

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