ClinVar Miner

Variants with conflicting interpretations studied for Tuberous sclerosis 1

Coded as:
Minimum review status of the submission for Tuberous sclerosis 1: Y axis collection method of the submission for Tuberous sclerosis 1:
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
467 114 2 15 24 0 3 38

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
Tuberous sclerosis 1 pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 1 1 0 0
likely pathogenic 4 0 0 0 0
uncertain significance 1 1 0 18 7
likely benign 0 0 3 1 1
benign 0 0 5 10 1

Condition to condition summary #

Total conditions: 7
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 7 0 9 12 0 0 19
not provided 0 51 2 7 10 0 2 18
Hereditary cancer-predisposing syndrome 0 30 0 3 8 0 0 10
Focal cortical dysplasia type II 0 5 0 3 5 0 1 8
Tuberous sclerosis syndrome 0 80 0 3 4 0 0 7
Tuberous sclerosis 1 604 11 0 1 4 0 0 4
Focal cortical dysplasia of Taylor type 2B 0 0 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 38
Download table as spreadsheet
HGVS dbSNP
NM_000368.4(TSC1):c.1084C>T (p.Pro362Ser) rs397514864
NM_000368.4(TSC1):c.1167A>T (p.Gly389=) rs876660723
NM_000368.4(TSC1):c.1250C>T (p.Thr417Ile) rs77464996
NM_000368.4(TSC1):c.1335A>G (p.Glu445=) rs7862221
NM_000368.4(TSC1):c.135G>A (p.Leu45=) rs149278759
NM_000368.4(TSC1):c.1579C>T (p.Gln527Ter) rs118203549
NM_000368.4(TSC1):c.1760A>G (p.Lys587Arg) rs118203576
NM_000368.4(TSC1):c.1802C>T (p.Pro601Leu) rs543077026
NM_000368.4(TSC1):c.1874A>C (p.Glu625Ala) rs886038287
NM_000368.4(TSC1):c.1927A>G (p.Thr643Ala) rs1485955306
NM_000368.4(TSC1):c.1960C>G (p.Gln654Glu) rs75820036
NM_000368.4(TSC1):c.2194C>T (p.His732Tyr) rs118203657
NM_000368.4(TSC1):c.2281T>C (p.Tyr761His) rs776386313
NM_000368.4(TSC1):c.2556G>C (p.Leu852=) rs770381040
NM_000368.4(TSC1):c.2626-3C>T rs1060503192
NM_000368.4(TSC1):c.2672A>G (p.Asn891Ser) rs1060503203
NM_000368.4(TSC1):c.2829C>T (p.Ala943=) rs4962081
NM_000368.4(TSC1):c.2865C>T (p.Thr955=) rs45468995
NM_000368.4(TSC1):c.2926A>G (p.Lys976Glu) rs796053448
NM_000368.4(TSC1):c.3086G>A (p.Ser1029Asn) rs796053450
NM_000368.4(TSC1):c.3184C>T (p.Arg1062Trp) rs118203745
NM_000368.4(TSC1):c.3282G>A (p.Glu1094=) rs116747861
NM_000368.4(TSC1):c.3300C>T (p.Ser1100=) rs754282309
NM_000368.4(TSC1):c.3324C>T (p.Gly1108=) rs35593170
NM_000368.4(TSC1):c.3469A>G (p.Asn1157Asp) rs796053451
NM_000368.4(TSC1):c.397G>A (p.Val133Ile) rs118203381
NM_000368.4(TSC1):c.532G>A (p.Val178Ile) rs118203395
NM_000368.4(TSC1):c.610C>T (p.Arg204Cys) rs1060505021
NM_000368.4(TSC1):c.663+1G>A rs118203419
NM_000368.4(TSC1):c.664-1G>A rs118203423
NM_000368.4(TSC1):c.737+3A>G rs118203439
NM_000368.4(TSC1):c.737G>A (p.Arg246Lys) rs118203436
NM_000368.4(TSC1):c.738-2A>T rs118203440
NM_000368.4(TSC1):c.772G>A (p.Glu258Lys) rs118203450
NM_000368.4(TSC1):c.965T>C (p.Met322Thr) rs1073123
NM_001162426.2(TSC1):c.2038+5del rs1564479424
NM_001162426.2(TSC1):c.2623-21_2623-19dup rs5901000
NM_001162426.2(TSC1):c.568C>T (p.Arg190Cys) rs118203400

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