ClinVar Miner

Variants with conflicting interpretations studied for Autosomal recessive cerebellar ataxia

Coded as:
Minimum review status of the submission for Autosomal recessive cerebellar ataxia: Y axis collection method of the submission for Autosomal recessive cerebellar ataxia:
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
76 88 0 23 24 0 3 49

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
Autosomal recessive cerebellar ataxia pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 1 0 0 0
likely pathogenic 1 0 0 0 0
uncertain significance 1 1 0 13 13
likely benign 2 0 2 0 17
benign 0 0 0 4 0

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 17 0 14 20 0 1 35
not specified 0 11 0 13 9 0 0 22
Coenzyme Q10 deficiency, primary, 4 0 4 0 2 1 0 2 4
Spinocerebellar ataxia, autosomal recessive 10 0 3 0 3 1 0 0 4
Perrault syndrome 5 0 0 0 0 0 0 1 1
Spinocerebellar ataxia, autosomal recessive 8 0 0 0 1 0 0 0 1
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 0 1 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 49
Download table as spreadsheet
HGVS dbSNP
NM_006946.3(SPTBN2):c.1722G>A (p.Glu574=) rs143083152
NM_006946.3(SPTBN2):c.3431G>A (p.Arg1144Gln) rs558572111
NM_006946.3(SPTBN2):c.968A>G (p.Gln323Arg) rs190532690
NM_018075.5(ANO10):c.1066A>G (p.Ser356Gly) rs56389778
NM_018075.5(ANO10):c.1133G>A (p.Arg378Gln) rs61732728
NM_018075.5(ANO10):c.1294-3del rs778730043
NM_018075.5(ANO10):c.132dup (p.Asp45fs) rs540331226
NM_018075.5(ANO10):c.1385G>A (p.Arg462Gln) rs3772165
NM_018075.5(ANO10):c.1669-8T>G rs115769245
NM_018075.5(ANO10):c.1682C>T (p.Thr561Met) rs17409162
NM_018075.5(ANO10):c.1683G>C (p.Thr561=) rs141040660
NM_018075.5(ANO10):c.486C>T (p.Leu162=) rs34829628
NM_018075.5(ANO10):c.627T>C (p.Ala209=) rs61742945
NM_018075.5(ANO10):c.74A>C (p.Gln25Pro) rs112040665
NM_018075.5(ANO10):c.980A>G (p.Tyr327Cys) rs146569520
NM_018319.4(TDP1):c.1098A>G (p.Gln366=) rs34563565
NM_018319.4(TDP1):c.1366+10G>A rs200295380
NM_018319.4(TDP1):c.1705A>G (p.Thr569Ala) rs35973343
NM_018319.4(TDP1):c.302C>T (p.Pro101Leu) rs35455108
NM_018319.4(TDP1):c.911G>A (p.Arg304Gln) rs34452707
NM_020247.5(COQ8A):c.-10+8T>C rs145688619
NM_020247.5(COQ8A):c.1053C>T (p.Gly351=) rs55958233
NM_020247.5(COQ8A):c.117G>A (p.Ala39=) rs11549708
NM_020247.5(COQ8A):c.1188C>T (p.Asp396=) rs139133094
NM_020247.5(COQ8A):c.1258G>A (p.Asp420Asn) rs147097934
NM_020247.5(COQ8A):c.1399-13G>A rs73087649
NM_020247.5(COQ8A):c.1440C>T (p.Phe480=) rs12593
NM_020247.5(COQ8A):c.1713C>A (p.Ala571=) rs886046069
NM_020247.5(COQ8A):c.1716T>C (p.Ser572=) rs3738725
NM_020247.5(COQ8A):c.1800C>T (p.Val600=) rs74589348
NM_020247.5(COQ8A):c.1809C>T (p.Pro603=) rs774789966
NM_020247.5(COQ8A):c.1914C>T (p.Ser638=) rs56043893
NM_020247.5(COQ8A):c.238C>T (p.His80Tyr) rs76249490
NM_020247.5(COQ8A):c.255T>G (p.His85Gln) rs2297411
NM_020247.5(COQ8A):c.258A>C (p.Ala86=) rs137872711
NM_020247.5(COQ8A):c.291C>T (p.Ser97=) rs111529228
NM_020247.5(COQ8A):c.63G>A (p.Ala21=) rs11549709
NM_020247.5(COQ8A):c.697G>A (p.Ala233Thr) rs376462712
NM_020247.5(COQ8A):c.798G>A (p.Thr266=) rs750042754
NM_020247.5(COQ8A):c.811C>T (p.Arg271Cys) rs145034527
NM_020247.5(COQ8A):c.993C>T (p.Phe331=) rs41303129
NM_021830.5(TWNK):c.1172G>A (p.Arg391His) rs556445621
NM_021830.5(TWNK):c.1697A>G (p.Lys566Arg) rs116046810
NM_021830.5(TWNK):c.1735-14C>A rs201795189
NM_021830.5(TWNK):c.2045G>A (p.Arg682His) rs182559752
NM_021830.5(TWNK):c.384C>T (p.Ser128=) rs148234280
NM_021830.5(TWNK):c.639C>T (p.Gly213=) rs11542130
NM_021830.5(TWNK):c.922T>C (p.Leu308=) rs754389465
NM_182961.4(SYNE1):c.16390-2A>G

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