ClinVar Miner

Variants with conflicting interpretations studied for Giant axonal neuropathy 1

Coded as:
Minimum review status of the submission for Giant axonal neuropathy 1: Collection method of the submission for Giant axonal neuropathy 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 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
581 63 0 9 16 0 16 37

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
Giant axonal neuropathy 1 pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 2 14 0 0
likely pathogenic 2 0 3 1 0
uncertain significance 14 3 0 15 3
likely benign 0 1 15 0 7
benign 0 0 3 7 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
Giant axonal neuropathy 1 581 63 0 9 16 0 16 37
Giant axonal neuropathy 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 37
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_022041.4(GAN):c.1239C>T (p.Ile413=) rs61740238 0.00609
NM_022041.4(GAN):c.1684C>G (p.Pro562Ala) rs79901179 0.00388
NM_022041.4(GAN):c.1182C>T (p.Tyr394=) rs150102659 0.00357
NM_022041.4(GAN):c.1502+11A>G rs143413333 0.00263
NM_022041.4(GAN):c.1445C>T (p.Ala482Val) rs146576740 0.00169
NM_022041.4(GAN):c.1612+12A>G rs150344737 0.00135
NM_022041.4(GAN):c.1162C>T (p.Leu388=) rs73589395 0.00103
NM_022041.4(GAN):c.283-20T>C rs371984923 0.00093
NM_022041.4(GAN):c.730A>G (p.Ile244Val) rs200749953 0.00051
NM_022041.4(GAN):c.974-11G>C rs753746307 0.00026
NM_022041.4(GAN):c.283-14T>C rs369700456 0.00019
NM_022041.4(GAN):c.1323T>C (p.Tyr441=) rs368072478 0.00011
NM_022041.4(GAN):c.944C>T (p.Pro315Leu) rs144486241 0.00011
NM_022041.4(GAN):c.444C>T (p.His148=) rs764605890 0.00004
NM_022041.4(GAN):c.75G>A (p.Glu25=) rs754548795 0.00004
NM_022041.4(GAN):c.283-15A>G rs754182168 0.00003
NM_022041.4(GAN):c.805C>T (p.Arg269Trp) rs776397915 0.00003
NM_022041.4(GAN):c.1518C>T (p.Asn506=) rs886052333 0.00002
NM_022041.4(GAN):c.1017G>A (p.Gln339=) rs201451382 0.00001
NM_022041.4(GAN):c.1447C>T (p.Gln483Ter) rs119485089 0.00001
NM_022041.4(GAN):c.1456G>A (p.Glu486Lys) rs119485088 0.00001
NM_022041.4(GAN):c.471G>A (p.Leu157=) rs143704621 0.00001
NM_022041.4(GAN):c.601C>T (p.Arg201Ter) rs119485090 0.00001
NM_022041.4(GAN):c.634-6C>T rs199874705 0.00001
NM_022041.4(GAN):c.801A>G (p.Lys267=) rs746799355 0.00001
NM_022041.4(GAN):c.806G>A (p.Arg269Gln) rs759581558 0.00001
NM_022041.4(GAN):c.851+1G>A rs747291494 0.00001
NM_022041.4(GAN):c.877C>T (p.Arg293Ter) rs370358470 0.00001
NM_022041.4(GAN):c.1012A>T (p.Lys338Ter) rs1181977802
NM_022041.4(GAN):c.1268T>C (p.Ile423Thr) rs119485091
NM_022041.4(GAN):c.1429C>T (p.Arg477Ter) rs119485094
NM_022041.4(GAN):c.1502+1G>T rs1555511978
NM_022041.4(GAN):c.18_19insA (p.Val7fs) rs1597385624
NM_022041.4(GAN):c.413G>A (p.Arg138His) rs119485092
NM_022041.4(GAN):c.43C>A (p.Arg15Ser) rs119485093
NM_022041.4(GAN):c.484C>T (p.Arg162Ter) rs1300267158
NM_022041.4(GAN):c.505G>A (p.Glu169Lys) rs119485095

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