ClinVar Miner

Variants with conflicting interpretations studied for Neuropathy, hereditary sensory and autonomic, type VI; Epidermolysis bullosa simplex, autosomal recessive 2

Coded as:
Minimum review status of the submission for Neuropathy, hereditary sensory and autonomic, type VI; Epidermolysis bullosa simplex, autosomal recessive 2: Y axis collection method of the submission for Neuropathy, hereditary sensory and autonomic, type VI; Epidermolysis bullosa simplex, autosomal recessive 2:
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
168 10 0 19 25 0 1 42

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
Neuropathy, hereditary sensory and autonomic, type VI; Epidermolysis bullosa simplex, autosomal recessive 2 likely pathogenic uncertain significance likely benign
uncertain significance 1 0 0
likely benign 0 11 0
benign 0 14 19

Condition to condition summary #

Total conditions: 3
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
Neuropathy, hereditary sensory and autonomic, type VI 0 9 0 17 25 0 0 40
not provided 0 0 0 1 2 0 1 4
not specified 0 1 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 42
Download table as spreadsheet
HGVS dbSNP
NM_001723.5(DST):c.1122A>T (p.Thr374=) rs200851963
NM_001723.5(DST):c.1764G>A (p.Ala588=) rs149789667
NM_001723.5(DST):c.1881C>T (p.Asn627=) rs79026338
NM_001723.5(DST):c.1989T>C (p.Ile663=) rs200453699
NM_001723.5(DST):c.2242A>G (p.Asn748Asp) rs201419873
NM_001723.5(DST):c.22delT (p.Tyr8Thrfs) rs775912185
NM_001723.5(DST):c.2451C>T (p.Val817=) rs78600049
NM_001723.5(DST):c.2589A>G (p.Lys863=) rs35715547
NM_001723.5(DST):c.25C>T (p.Arg9Cys) rs75671065
NM_001723.5(DST):c.2769G>A (p.Thr923=) rs200169945
NM_001723.5(DST):c.2841T>C (p.Asn947=) rs112640831
NM_001723.5(DST):c.288G>A (p.Val96=) rs746002438
NM_001723.5(DST):c.2979T>G (p.Asn993Lys) rs35014998
NM_001723.5(DST):c.3027+7A>T rs185349093
NM_001723.5(DST):c.3220-3C>A rs115890942
NM_001723.5(DST):c.3220-6T>A rs751953259
NM_001723.5(DST):c.3295T>C (p.Leu1099=) rs147406105
NM_001723.5(DST):c.3336G>C (p.Glu1112Asp) rs34767818
NM_001723.5(DST):c.3346C>T (p.His1116Tyr) rs6909714
NM_001723.5(DST):c.3809A>G (p.Lys1270Arg) rs35497571
NM_001723.5(DST):c.3957A>C (p.Ala1319=) rs543767625
NM_001723.5(DST):c.4049C>T (p.Thr1350Met) rs45472691
NM_001723.5(DST):c.4289C>T (p.Ala1430Val) rs78701610
NM_001723.5(DST):c.431G>A (p.Arg144His) rs143101723
NM_001723.5(DST):c.4400G>A (p.Arg1467His) rs147704763
NM_001723.5(DST):c.4674C>T (p.Leu1558=) rs191617697
NM_001723.5(DST):c.4980A>C (p.Val1660=) rs2230863
NM_001723.5(DST):c.5055T>C (p.Asn1685=) rs2230864
NM_001723.5(DST):c.514A>G (p.Met172Val) rs142650835
NM_001723.5(DST):c.5153A>C (p.Lys1718Thr) rs45487998
NM_001723.5(DST):c.5485C>G (p.Gln1829Glu) rs79943354
NM_001723.5(DST):c.5892C>T (p.Thr1964=) rs146263203
NM_001723.5(DST):c.5909T>C (p.Phe1970Ser) rs141573097
NM_001723.5(DST):c.645A>T (p.Ser215=) rs113432929
NM_001723.5(DST):c.6582A>C (p.Ala2194=) rs149007397
NM_001723.5(DST):c.6633A>G (p.Ala2211=) rs115542549
NM_001723.5(DST):c.6868A>G (p.Arg2290Gly) rs112473525
NM_001723.5(DST):c.7284A>G (p.Thr2428=) rs150845451
NM_001723.5(DST):c.739C>G (p.Pro247Ala) rs151271595
NM_001723.5(DST):c.7491G>A (p.Lys2497=) rs145891100
NM_001723.5(DST):c.7765A>G (p.Ile2589Val) rs150191284
NM_001723.5(DST):c.909A>C (p.Ser303=) rs139336917

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