ClinVar Miner

Variants with conflicting interpretations studied for Junctional epidermolysis bullosa gravis of Herlitz

Coded as:
Minimum review status of the submission for Junctional epidermolysis bullosa gravis of Herlitz: Y axis collection method of the submission for Junctional epidermolysis bullosa gravis of Herlitz:
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
248 16 5 13 1 0 9 28

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
Junctional epidermolysis bullosa gravis of Herlitz pathogenic likely pathogenic uncertain significance
pathogenic 5 3 0
likely pathogenic 12 0 6
uncertain significance 1 1 0
likely benign 1 0 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 provided 0 4 3 10 0 0 1 14
Epidermolysis bullosa, junctional 0 7 1 1 1 0 5 8
Junctional epidermolysis bullosa gravis of Herlitz 281 6 3 2 0 0 0 5
Adult junctional epidermolysis bullosa 0 0 1 1 0 0 2 4
Amelogenesis imperfecta, type IA; Junctional epidermolysis bullosa gravis of Herlitz; Adult junctional epidermolysis bullosa 0 1 2 0 0 0 0 2
LAMA3-Related Disorders 0 0 0 0 0 0 1 1
Laryngoonychocutaneous syndrome 0 3 1 0 0 0 0 1

All variants with conflicting interpretations #

Total variants: 28
Download table as spreadsheet
HGVS dbSNP
NM_000228.3(LAMB3):c.1117C>T (p.Gln373Ter) rs1057517096
NM_000228.3(LAMB3):c.124C>T (p.Arg42Ter) rs80356680
NM_000228.3(LAMB3):c.1365_1366del (p.Asn456fs) rs769967565
NM_000228.3(LAMB3):c.1705C>T (p.Arg569Ter) rs201551805
NM_000228.3(LAMB3):c.1823dup (p.Ser608fs) rs1057516219
NM_000228.3(LAMB3):c.1903C>T (p.Arg635Ter) rs80356682
NM_000228.3(LAMB3):c.1978C>T (p.Arg660Ter) rs146794392
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.2288del (p.Gly763fs) rs886041893
NM_000228.3(LAMB3):c.2346del (p.Thr783fs) rs1057516486
NM_000228.3(LAMB3):c.298+2T>C rs1057517312
NM_000228.3(LAMB3):c.463dup (p.Ser155fs) rs776537364
NM_000228.3(LAMB3):c.497_498AG[1] (p.Ser167fs) rs1057516241
NM_000228.3(LAMB3):c.596G>C (p.Gly199Ala) rs121912486
NM_000228.3(LAMB3):c.628+1G>A rs1057516539
NM_000228.3(LAMB3):c.628+42G>A rs587776812
NM_000228.3(LAMB3):c.727C>T (p.Gln243Ter) rs80356681
NM_000228.3(LAMB3):c.978del (p.Phe327fs) rs763559509
NM_005562.3(LAMC2):c.1065C>G (p.Tyr355Ter) rs118203899
NM_005562.3(LAMC2):c.1A>G (p.Met1Val) rs886045625
NM_005562.3(LAMC2):c.283C>T (p.Arg95Ter) rs80356683
NM_005562.3(LAMC2):c.503+14G>A rs372097432
NM_198129.3(LAMA3):c.4998+1534dup rs80356678
NM_198129.3(LAMA3):c.6567del (p.Glu2190fs) rs1555732939
NM_198129.3(LAMA3):c.7075C>T (p.Gln2359Ter) rs1555735252
NM_198129.3(LAMA3):c.7459A>T (p.Met2487Leu) rs1085308017
NM_198129.3(LAMA3):c.7828C>T (p.Arg2610Ter) rs768415785

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