ClinVar Miner

Variants with conflicting interpretations studied for Epidermolysis bullosa, junctional

Coded as:
Minimum review status of the submission for Epidermolysis bullosa, junctional: Y axis collection method of the submission for Epidermolysis bullosa, junctional:
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
254 110 1 9 6 0 5 21

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
Epidermolysis bullosa, junctional pathogenic likely pathogenic likely benign benign
pathogenic 1 0 0 0
likely pathogenic 3 0 0 0
uncertain significance 0 5 4 3
likely benign 0 0 0 6

Condition to condition summary #

Total conditions: 4
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 35 0 6 4 0 0 10
Junctional epidermolysis bullosa gravis of Herlitz 0 7 1 1 1 0 5 8
not provided 0 8 0 1 2 0 0 3
Adult junctional epidermolysis bullosa 0 1 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 21
Download table as spreadsheet
HGVS dbSNP
NM_000228.3(LAMB3):c.1117C>T (p.Gln373Ter) rs1057517096
NM_000228.3(LAMB3):c.1132+5G>A rs770302956
NM_000228.3(LAMB3):c.1188C>T (p.Thr396=) rs115883756
NM_000228.3(LAMB3):c.1903C>T (p.Arg635Ter) rs80356682
NM_000228.3(LAMB3):c.2011del (p.Leu671fs) rs1057516822
NM_000228.3(LAMB3):c.223_224CA[1] (p.His75fs) rs886045870
NM_000228.3(LAMB3):c.298+2T>C rs1057517312
NM_000228.3(LAMB3):c.978del (p.Phe327fs) rs763559509
NM_000494.4(COL17A1):c.1267+13C>T rs11191910
NM_005562.3(LAMC2):c.1A>G (p.Met1Val) rs886045625
NM_005562.3(LAMC2):c.2035C>T (p.Leu679Phe) rs62640910
NM_005562.3(LAMC2):c.2198G>C (p.Ser733Thr) rs2296303
NM_005562.3(LAMC2):c.269-15C>T rs12085883
NM_005562.3(LAMC2):c.2754+9T>C rs113467864
NM_005562.3(LAMC2):c.3206C>T (p.Thr1069Met) rs139043074
NM_005562.3(LAMC2):c.3367C>T (p.Leu1123=) rs587281
NM_005562.3(LAMC2):c.503+14G>A rs372097432
NM_005562.3(LAMC2):c.733C>T (p.Arg245Ter) rs118203901
NM_005562.3(LAMC2):c.880C>T (p.Leu294=) rs144572936
NM_198129.3(LAMA3):c.7797C>T (p.Asp2599=) rs61751706
NM_198129.3(LAMA3):c.9353G>A (p.Ser3118Asn) rs61749943

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