ClinVar Miner

Variants with conflicting interpretations studied for Hereditary sensory and autonomic neuropathy type 6; Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency

Coded as:
Minimum review status of the submission for Hereditary sensory and autonomic neuropathy type 6; Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency: Collection method of the submission for Hereditary sensory and autonomic neuropathy type 6; Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency:
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
2843 282 0 9 23 0 1 33

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
Hereditary sensory and autonomic neuropathy type 6; Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency uncertain significance likely benign benign
likely pathogenic 1 0 0
uncertain significance 0 12 0
likely benign 11 0 4
benign 0 9 0

Condition to condition summary #

Total conditions: 2
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
Inborn genetic diseases 0 276 0 6 23 0 1 30
Hereditary sensory and autonomic neuropathy type 6; Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency 3148 6 0 4 0 0 0 4

All variants with conflicting interpretations #

Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_001374736.1(DST):c.15584G>A (p.Cys5195Tyr) rs57472891 0.01957
NM_001374736.1(DST):c.17923-10A>G rs116504133 0.01889
NM_001374736.1(DST):c.3495-17T>C rs74865335 0.01174
NM_001374736.1(DST):c.20997G>A (p.Leu6999=) rs187652380 0.00781
NM_001374736.1(DST):c.13820C>A (p.Pro4607His) rs138967674 0.00744
NM_001723.7(DST):c.3336G>C (p.Glu1112Asp) rs34767818 0.00349
NM_001374736.1(DST):c.14461A>C (p.Asn4821His) rs139089184 0.00260
NM_001374736.1(DST):c.2350C>G (p.Pro784Ala) rs151271595 0.00152
NM_001374736.1(DST):c.21538A>G (p.Met7180Val) rs200006386 0.00141
NM_001374736.1(DST):c.18433C>T (p.Arg6145Trp) rs193252082 0.00107
NM_001374736.1(DST):c.16495A>T (p.Ser5499Cys) rs180765536 0.00102
NM_001374736.1(DST):c.20438A>G (p.Asn6813Ser) rs199628430 0.00095
NM_001374736.1(DST):c.15309T>A (p.Phe5103Leu) rs191081991 0.00086
NM_001374736.1(DST):c.2042G>A (p.Arg681His) rs143101723 0.00058
NM_001374736.1(DST):c.2125A>G (p.Met709Val) rs142650835 0.00039
NM_001374736.1(DST):c.12680G>A (p.Arg4227His) rs201346012 0.00035
NM_001374736.1(DST):c.15446C>T (p.Thr5149Ile) rs369194519 0.00030
NM_001374736.1(DST):c.15788G>A (p.Ser5263Asn) rs374575683 0.00024
NM_001374736.1(DST):c.5203A>G (p.Ser1735Gly) rs369218541 0.00024
NM_001374736.1(DST):c.3853A>G (p.Asn1285Asp) rs201419873 0.00012
NM_001374736.1(DST):c.12238A>G (p.Ile4080Val) rs200855949 0.00007
NM_001374736.1(DST):c.15489G>C (p.Glu5163Asp) rs186788522 0.00006
NM_001374736.1(DST):c.20975A>G (p.Asn6992Ser) rs780386919 0.00005
NM_001374736.1(DST):c.2860-4G>C rs370134977 0.00005
NM_001374736.1(DST):c.16609-1G>T rs766657292 0.00003
NM_001374736.1(DST):c.17894A>C (p.Glu5965Ala) rs753007435 0.00001
NM_001374736.1(DST):c.1872T>G (p.Ser624=) rs994026153 0.00001
NM_001374736.1(DST):c.19415A>G (p.Lys6472Arg) rs904996327 0.00001
NM_001374736.1(DST):c.14311-6T>G
NM_001374736.1(DST):c.14441-7_14441-6del rs773495985
NM_001374736.1(DST):c.21598G>A (p.Val7200Ile) rs760700573
NM_001374736.1(DST):c.23195-6C>T
NM_001374736.1(DST):c.23348G>C (p.Arg7783Thr)

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