ClinVar Miner

Variants with conflicting interpretations studied for Neuronal ceroid lipofuscinosis

Coded as:
Minimum review status of the submission for Neuronal ceroid lipofuscinosis: Collection method of the submission for Neuronal ceroid lipofuscinosis:
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
3279 122 0 25 31 0 9 65

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 pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 20 3 0 0
likely pathogenic 20 0 6 0 0
uncertain significance 3 6 0 24 7
likely benign 0 0 24 0 5
benign 0 0 7 5 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
Neuronal ceroid lipofuscinosis 3279 122 0 25 31 0 9 65

All variants with conflicting interpretations #

Total variants: 65
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_017882.3(CLN6):c.486+8C>T rs149692285 0.01339
NM_017882.3(CLN6):c.34G>A (p.Ala12Thr) rs112239768 0.01081
NM_017882.3(CLN6):c.769A>G (p.Ser257Gly) rs151295143 0.00475
NM_006493.4(CLN5):c.-87C>T rs200353554 0.00309
NM_006493.4(CLN5):c.-99G>C rs202118652 0.00208
NM_017882.3(CLN6):c.923G>C (p.Ser308Thr) rs143578698 0.00169
NM_017882.3(CLN6):c.339G>A (p.Thr113=) rs146135801 0.00141
NM_006493.4(CLN5):c.-146T>C rs201615354 0.00104
NM_001042432.2(CLN3):c.238A>T (p.Thr80Ser) rs150348015 0.00074
NM_018941.4(CLN8):c.513C>G (p.Pro171=) rs376910635 0.00073
NM_017882.3(CLN6):c.487-15C>T rs200775021 0.00049
NM_017882.3(CLN6):c.5A>G (p.Glu2Gly) rs3743088 0.00042
NM_017882.3(CLN6):c.822G>A (p.Ala274=) rs151186473 0.00041
NM_001042432.2(CLN3):c.242C>T (p.Pro81Leu) rs137906617 0.00029
NM_017882.3(CLN6):c.282C>A (p.Pro94=) rs139261571 0.00021
NM_017882.3(CLN6):c.585C>T (p.Gly195=) rs144507672 0.00011
NM_018941.4(CLN8):c.725C>T (p.Thr242Met) rs138821993 0.00010
NM_017882.3(CLN6):c.298-15C>T rs368661456 0.00009
NM_018941.4(CLN8):c.300G>A (p.Gln100=) rs148988002 0.00008
NM_001042432.2(CLN3):c.291G>A (p.Thr97=) rs367945307 0.00007
NM_017882.3(CLN6):c.445C>T (p.Arg149Cys) rs747229909 0.00006
NM_017882.3(CLN6):c.597C>G (p.Ala199=) rs368546281 0.00006
NM_001042432.2(CLN3):c.1158C>T (p.Gly386=) rs145340637 0.00005
NM_001909.5(CTSD):c.299C>T (p.Ser100Phe) rs796052407 0.00004
NM_006493.4(CLN5):c.486C>T (p.Gly162=) rs769007858 0.00004
NM_006493.4(CLN5):c.420A>G (p.Gln140=) rs753732321 0.00003
NM_017882.3(CLN6):c.662A>C (p.Tyr221Ser) rs764571295 0.00003
NM_017882.3(CLN6):c.831C>T (p.Val277=) rs753344266 0.00003
NM_018941.4(CLN8):c.470A>G (p.His157Arg) rs149308952 0.00003
NM_018941.4(CLN8):c.582G>A (p.Gln194=) rs139824802 0.00003
NM_001042432.2(CLN3):c.175G>A (p.Ala59Thr) rs765893479 0.00002
NM_017882.3(CLN6):c.150C>G (p.Tyr50Ter) rs154774640 0.00002
NM_017882.3(CLN6):c.308G>A (p.Arg103Gln) rs154774634 0.00002
NM_017882.3(CLN6):c.49G>A (p.Gly17Ser) rs763944821 0.00002
NM_001042432.2(CLN3):c.461-1G>T rs386833722 0.00001
NM_001042432.2(CLN3):c.47-1G>A rs1555469477 0.00001
NM_006493.4(CLN5):c.188G>A (p.Arg63His) rs104894386 0.00001
NM_006493.4(CLN5):c.688G>A (p.Asp230Asn) rs28940280 0.00001
NM_018941.4(CLN8):c.209G>A (p.Arg70His) rs386834124 0.00001
NM_018941.4(CLN8):c.256C>T (p.Leu86=) rs755248868 0.00001
NM_018941.4(CLN8):c.792C>G (p.Asn264Lys) rs587779411 0.00001
NM_000391.4(TPP1):c.184_185del (p.Ser62fs) rs1554902216
NM_001042432.2(CLN3):c.1000C>T (p.Arg334Cys) rs386833694
NM_001042432.2(CLN3):c.1075del (p.Leu359fs) rs2046023126
NM_001042432.2(CLN3):c.1197+1G>A
NM_001042432.2(CLN3):c.265C>T (p.Arg89Ter) rs386833713
NM_001042432.2(CLN3):c.558_559del (p.Gly187fs) rs386833729
NM_001042432.2(CLN3):c.868G>T (p.Val290Leu) rs369008702
NM_001042432.2(CLN3):c.954_962+18del rs386833741
NM_001909.5(CTSD):c.268del (p.Gln90fs) rs752612332
NM_006493.4(CLN5):c.144dup (p.Ser49fs) rs386833970
NM_006493.4(CLN5):c.162G>A (p.Pro54=) rs754303449
NM_006493.4(CLN5):c.188G>C (p.Arg63Pro) rs104894386
NM_006493.4(CLN5):c.377T>G (p.Leu126Ter) rs386833972
NM_006493.4(CLN5):c.428A>G (p.Asn143Ser) rs386833975
NM_006493.4(CLN5):c.777_778del (p.Phe260fs) rs786204644
NM_017882.3(CLN6):c.213C>G (p.Leu71=) rs146980624
NM_017882.3(CLN6):c.3G>A (p.Met1Ile) rs2093262869
NM_017882.3(CLN6):c.487-12T>A rs571940397
NM_017882.3(CLN6):c.64G>T (p.Ala22Ser) rs527373013
NM_017882.3(CLN6):c.66C>T (p.Ala22=) rs796052349
NM_017882.3(CLN6):c.83+11G>A rs2093262385
NM_017882.3(CLN6):c.890del (p.Pro297fs) rs154774639
NM_018941.4(CLN8):c.234A>G (p.Thr78=) rs1450867136
NM_018941.4(CLN8):c.648C>T (p.Phe216=) rs564074916

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