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 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
229 15 1 13 28 0 1 41

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 pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 1 1 0 0 0
uncertain significance 0 0 0 21 20
likely benign 0 1 0 0 11
benign 0 0 1 1 0

Condition to condition summary #

Total conditions: 9
Download table as spreadsheet
Condition 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
not specified 0 5 0 12 23 0 0 35
Neuronal ceroid lipofuscinosis 0 6 0 6 10 0 0 16
Seizures 0 8 0 4 8 0 0 12
not provided 0 19 0 7 5 0 0 12
Ceroid lipofuscinosis neuronal 7 0 1 0 1 7 0 0 8
Ceroid lipofuscinosis neuronal 1 0 2 1 3 1 0 0 4
History of neurodevelopmental disorder 0 2 0 3 1 0 0 4
Ceroid lipofuscinosis neuronal 2 0 2 0 0 0 0 1 1
Neuronal Ceroid-Lipofuscinosis, Recessive 283 1 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 41
Download table as spreadsheet
HGVS dbSNP
NM_000310.3(PPT1):c.*3C>A rs150454815
NM_000310.3(PPT1):c.363-4G>A rs117284255
NM_000310.3(PPT1):c.401T>C (p.Ile134Thr) rs1800205
NM_000310.3(PPT1):c.451C>T (p.Arg151Ter) rs137852700
NM_000310.3(PPT1):c.837G>C (p.Gln279His) rs72937434
NM_000310.3(PPT1):c.904A>G (p.Ile302Val) rs146902902
NM_000391.3(TPP1):c.-33C>G rs757508432
NM_000391.3(TPP1):c.-40T>C rs200184958
NM_000391.4(TPP1):c.1033A>C (p.Met345Leu) rs141482368
NM_000391.4(TPP1):c.1266+5G>A rs1800753
NM_000391.4(TPP1):c.1494C>T (p.Pro498=) rs117942457
NM_000391.4(TPP1):c.1542A>T (p.Gly514=) rs1128396
NM_000391.4(TPP1):c.1653C>G (p.Pro551=) rs372564255
NM_000391.4(TPP1):c.293C>T (p.Thr98Met) rs140726254
NM_000391.4(TPP1):c.381-10dup rs146315473
NM_000391.4(TPP1):c.441A>G (p.Glu147=) rs2555170
NM_000391.4(TPP1):c.796C>T (p.Arg266Trp) rs200138397
NM_000391.4(TPP1):c.840G>C (p.Leu280=) rs140349036
NM_000391.4(TPP1):c.887-6del rs35039601
NM_017882.3(CLN6):c.*141_*142GT[11] rs3837692
NM_017882.3(CLN6):c.213C>G (p.Leu71=) rs146980624
NM_017882.3(CLN6):c.282C>A (p.Pro94=) rs139261571
NM_017882.3(CLN6):c.298-15C>T rs368661456
NM_017882.3(CLN6):c.339G>A (p.Thr113=) rs146135801
NM_017882.3(CLN6):c.487-12T>A rs571940397
NM_017882.3(CLN6):c.585C>T (p.Gly195=) rs144507672
NM_017882.3(CLN6):c.64G>T (p.Ala22Ser) rs527373013
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
NM_152778.3(MFSD8):c.1153G>C (p.Gly385Arg) rs11098943
NM_152778.3(MFSD8):c.1268C>T (p.Ala423Val) rs3733319
NM_152778.3(MFSD8):c.1311C>G (p.Ser437=) rs145453022
NM_152778.3(MFSD8):c.1351-9C>T rs75039907
NM_152778.3(MFSD8):c.199-8T>C rs112721309
NM_152778.3(MFSD8):c.206C>T (p.Pro69Leu) rs147750747
NM_152778.3(MFSD8):c.573A>G (p.Thr191=) rs115275192
NM_152778.3(MFSD8):c.590G>A (p.Gly197Asp) rs28544073
NM_152778.3(MFSD8):c.66A>T (p.Glu22Asp) rs145529594

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.