ClinVar Miner

Variants with conflicting interpretations studied for Neuronal Ceroid-Lipofuscinosis, Recessive

Coded as:
Minimum review status of the submission for Neuronal Ceroid-Lipofuscinosis, Recessive: Y axis collection method of the submission for Neuronal Ceroid-Lipofuscinosis, Recessive:
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
127 6 0 4 6 0 0 10

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
Neuronal Ceroid-Lipofuscinosis, Recessive uncertain significance likely benign benign
uncertain significance 0 3 3
likely benign 0 0 4
benign 1 0 0

Condition to condition summary #

Total conditions: 3
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
not specified 0 5 0 4 3 0 0 7
not provided 0 5 0 1 2 0 0 3
Neuronal Ceroid-Lipofuscinosis, Recessive 141 1 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 10
Download table as spreadsheet
HGVS dbSNP
NM_000391.3(TPP1):c.-33C>G rs757508432
NM_000391.3(TPP1):c.-40T>C rs200184958
NM_000391.4(TPP1):c.381-10dup rs146315473
NM_000391.4(TPP1):c.887-6del rs35039601
NM_017882.3(CLN6):c.*141_*142GT[11] rs3837692
NM_025219.3(DNAJC5):c.107+10C>T rs181906972
NM_025219.3(DNAJC5):c.132C>T (p.Pro44=) rs140948457
NM_025219.3(DNAJC5):c.444C>T (p.Phe148=) rs772254851
NM_025219.3(DNAJC5):c.45A>G (p.Ser15=) rs144141585
NM_025219.3(DNAJC5):c.504C>T (p.Asp168=) rs886056935

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