ClinVar Miner

Variants with conflicting interpretations studied for Spinocerebellar Ataxia, Dominant

Coded as:
Minimum review status of the submission for Spinocerebellar Ataxia, Dominant: Y axis collection method of the submission for Spinocerebellar Ataxia, Dominant:
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
395 66 0 79 51 0 1 127

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
Spinocerebellar Ataxia, Dominant likely pathogenic uncertain significance likely benign benign
uncertain significance 0 0 38 24
likely benign 1 6 0 65
benign 0 0 14 0

Condition to condition summary #

Total conditions: 9
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 specified 0 19 0 54 38 0 0 92
Charcot-Marie-Tooth disease, axonal, type 2O 0 6 0 14 28 0 0 42
History of neurodevelopmental disorder 0 1 0 20 15 0 0 35
not provided 0 17 0 19 12 0 0 30
Spinocerebellar ataxia 5 0 2 0 5 0 0 0 5
Spinocerebellar ataxia 14 0 3 0 3 0 0 0 3
Spinocerebellar ataxia 27 0 0 0 1 1 0 0 2
Spinocerebellar ataxia 29 0 1 0 0 2 0 0 2
Spinocerebellar ataxia type 15/16 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 127
Download table as spreadsheet
HGVS dbSNP
NM_001376.4(DYNC1H1):c.-13C>G rs537857759
NM_001376.4(DYNC1H1):c.-5A>G rs17511858
NM_001376.4(DYNC1H1):c.10950C>T (p.Asn3650=) rs17541505
NM_001376.4(DYNC1H1):c.11460+4G>A rs201518717
NM_001376.4(DYNC1H1):c.11596-7G>A rs375593873
NM_001376.4(DYNC1H1):c.11765C>T (p.Pro3922Leu) rs141696238
NM_001376.4(DYNC1H1):c.11913C>G (p.Pro3971=) rs201174299
NM_001376.4(DYNC1H1):c.12087C>A (p.His4029Gln) rs10129889
NM_001376.4(DYNC1H1):c.12102+6G>A rs377669980
NM_001376.4(DYNC1H1):c.12159A>T (p.Gly4053=) rs115992196
NM_001376.4(DYNC1H1):c.12258C>T (p.Thr4086=) rs141242095
NM_001376.4(DYNC1H1):c.12514-9C>A rs74874468
NM_001376.4(DYNC1H1):c.12705G>A (p.Pro4235=) rs199792795
NM_001376.4(DYNC1H1):c.13080T>C (p.Thr4360=) rs13749
NM_001376.4(DYNC1H1):c.13149C>T (p.Thr4383=) rs375767483
NM_001376.4(DYNC1H1):c.13219-9C>T rs17541650
NM_001376.4(DYNC1H1):c.13359C>T (p.Asn4453=) rs140033479
NM_001376.4(DYNC1H1):c.13372+4C>T rs17541657
NM_001376.4(DYNC1H1):c.13372+9G>A rs1004903
NM_001376.4(DYNC1H1):c.13515+8C>T rs200901713
NM_001376.4(DYNC1H1):c.13707G>A (p.Thr4569=) rs138571942
NM_001376.4(DYNC1H1):c.13719C>T (p.Asn4573=) rs886050377
NM_001376.4(DYNC1H1):c.13764G>A (p.Thr4588=) rs35079638
NM_001376.4(DYNC1H1):c.1704T>C (p.Leu568=) rs192959810
NM_001376.4(DYNC1H1):c.2211T>A (p.Val737=) rs149902566
NM_001376.4(DYNC1H1):c.2511A>G (p.Ala837=) rs17512054
NM_001376.4(DYNC1H1):c.2625G>A (p.Ser875=) rs17512082
NM_001376.4(DYNC1H1):c.2719-6C>T rs199763298
NM_001376.4(DYNC1H1):c.2721T>C (p.Ile907=) rs114021657
NM_001376.4(DYNC1H1):c.345-10T>G rs202110844
NM_001376.4(DYNC1H1):c.3495T>C (p.Asp1165=) rs144359313
NM_001376.4(DYNC1H1):c.3600A>G (p.Gln1200=) rs12893215
NM_001376.4(DYNC1H1):c.3909G>A (p.Ala1303=) rs34690489
NM_001376.4(DYNC1H1):c.3993C>T (p.Gly1331=) rs17540957
NM_001376.4(DYNC1H1):c.432G>A (p.Ser144=) rs533327200
NM_001376.4(DYNC1H1):c.4515G>A (p.Ser1505=) rs186932188
NM_001376.4(DYNC1H1):c.46T>C (p.Leu16=) rs2273437
NM_001376.4(DYNC1H1):c.4854T>C (p.Tyr1618=) rs75094258
NM_001376.4(DYNC1H1):c.5001C>T (p.Asn1667=) rs117199211
NM_001376.4(DYNC1H1):c.5295A>G (p.Ala1765=) rs139919955
NM_001376.4(DYNC1H1):c.5298G>T (p.Leu1766=) rs149395439
NM_001376.4(DYNC1H1):c.5424A>G (p.Leu1808=) rs770425304
NM_001376.4(DYNC1H1):c.5971G>A (p.Asp1991Asn) rs151001016
NM_001376.4(DYNC1H1):c.624G>A (p.Pro208=) rs3818188
NM_001376.4(DYNC1H1):c.7137G>A (p.Leu2379=) rs17512439
NM_001376.4(DYNC1H1):c.7203A>C (p.Lys2401Asn) rs150888094
NM_001376.4(DYNC1H1):c.7308G>A (p.Ala2436=) rs754446530
NM_001376.4(DYNC1H1):c.738A>G (p.Gln246=) rs117189734
NM_001376.4(DYNC1H1):c.7410G>A (p.Ala2470=) rs139109090
NM_001376.4(DYNC1H1):c.7449C>T (p.Ile2483=) rs17541158
NM_001376.4(DYNC1H1):c.7458G>T (p.Leu2486=) rs17541165
NM_001376.4(DYNC1H1):c.7524A>G (p.Leu2508=) rs17541179
NM_001376.4(DYNC1H1):c.7632A>G (p.Glu2544=) rs17512460
NM_001376.4(DYNC1H1):c.8304G>A (p.Pro2768=) rs77113510
NM_001376.4(DYNC1H1):c.8478A>G (p.Ala2826=) rs117846737
NM_001376.4(DYNC1H1):c.8784A>G (p.Gln2928=) rs149753029
NM_001376.4(DYNC1H1):c.8928A>G (p.Leu2976=) rs8010870
NM_001376.4(DYNC1H1):c.9210G>A (p.Pro3070=) rs201817995
NM_002222.5(ITPR1):c.1435G>A (p.Val479Ile) rs41289628
NM_002222.5(ITPR1):c.1881C>T (p.Asn627=) rs61757106
NM_002222.5(ITPR1):c.1962-3T>C rs200335594
NM_002222.5(ITPR1):c.1962G>A (p.Lys654=) rs2306875
NM_002222.5(ITPR1):c.2235G>T (p.Leu745=) rs375801584
NM_002222.5(ITPR1):c.255C>T (p.Asp85=) rs367814655
NM_002222.5(ITPR1):c.2613A>C (p.Leu871=) rs2306877
NM_002222.5(ITPR1):c.2687C>T (p.Ala896Val) rs201519806
NM_002222.5(ITPR1):c.3255+4G>A rs2306878
NM_002222.5(ITPR1):c.3385A>G (p.Met1129Val) rs199698357
NM_002222.5(ITPR1):c.3822C>T (p.Asn1274=) rs182840163
NM_002222.5(ITPR1):c.3873T>C (p.Asn1291=) rs193212750
NM_002222.5(ITPR1):c.4216A>G (p.Ile1406Val) rs3749383
NM_002222.5(ITPR1):c.4782C>T (p.Ser1594=) rs373127487
NM_002222.5(ITPR1):c.5076C>T (p.Asn1692=) rs61757111
NM_002222.5(ITPR1):c.6528A>G (p.Thr2176=) rs13079522
NM_002222.5(ITPR1):c.6865C>T (p.Leu2289=) rs2291862
NM_002222.5(ITPR1):c.6909C>T (p.Gly2303=) rs41290672
NM_002222.5(ITPR1):c.6910G>A (p.Ala2304Thr) rs201144431
NM_002222.5(ITPR1):c.7200C>T (p.Phe2400=) rs200487406
NM_002222.5(ITPR1):c.7320T>C (p.Asp2440=) rs79720149
NM_002222.5(ITPR1):c.7446T>C (p.Thr2482=) rs711631
NM_002222.5(ITPR1):c.7500G>A (p.Lys2500=) rs901854
NM_002222.5(ITPR1):c.952-6C>T rs139421901
NM_002739.4(PRKCG):c.1404C>G (p.Leu468=) rs35079513
NM_002739.4(PRKCG):c.1497T>C (p.Phe499=) rs2242244
NM_002739.4(PRKCG):c.1722C>T (p.Tyr574=) rs34616316
NM_002739.4(PRKCG):c.207C>T (p.Cys69=) rs307955
NM_002739.4(PRKCG):c.285C>T (p.Asp95=) rs17854523
NM_002739.4(PRKCG):c.567T>C (p.Asn189=) rs3745406
NM_002739.4(PRKCG):c.72C>T (p.Ala24=) rs2547362
NM_004115.3(FGF14):c.636T>C (p.His212=) rs41281644
NM_004115.3(FGF14):c.693G>A (p.Ala231=) rs34397704
NM_006796.2(AFG3L2):c.*2G>A rs113981080
NM_006796.2(AFG3L2):c.-32C>T rs556432963
NM_006796.2(AFG3L2):c.1026+8G>A rs8091858
NM_006796.2(AFG3L2):c.114+12C>T rs758470020
NM_006796.2(AFG3L2):c.1389G>A (p.Leu463=) rs11080572
NM_006796.2(AFG3L2):c.1426+9A>T rs377339236
NM_006796.2(AFG3L2):c.1650A>G (p.Glu550=) rs11553521
NM_006796.2(AFG3L2):c.1664-9T>C rs200476229
NM_006796.2(AFG3L2):c.2314C>T (p.Leu772Phe) rs117182113
NM_006796.2(AFG3L2):c.293-14_293-13delTT rs556473698
NM_006796.2(AFG3L2):c.498C>T (p.Ser166=) rs141538541
NM_006796.2(AFG3L2):c.793G>A (p.Ala265Thr) rs149605021
NM_006946.3(SPTBN2):c.1011T>G (p.Leu337=) rs34275473
NM_006946.3(SPTBN2):c.1351-7G>T rs116078747
NM_006946.3(SPTBN2):c.157+5G>A rs150159444
NM_006946.3(SPTBN2):c.1719C>T (p.His573=) rs148207416
NM_006946.3(SPTBN2):c.234G>A (p.Val78=) rs78309877
NM_006946.3(SPTBN2):c.249C>T (p.Ser83=) rs141552965
NM_006946.3(SPTBN2):c.285C>T (p.Leu95=) rs34117933
NM_006946.3(SPTBN2):c.3101T>C (p.Val1034Ala) rs506028
NM_006946.3(SPTBN2):c.3282G>A (p.Pro1094=) rs114241603
NM_006946.3(SPTBN2):c.3686A>G (p.His1229Arg) rs114788199
NM_006946.3(SPTBN2):c.4899G>A (p.Leu1633=) rs639938
NM_006946.3(SPTBN2):c.5340C>T (p.Asn1780=) rs623022
NM_006946.3(SPTBN2):c.5639G>A (p.Arg1880His) rs35532855
NM_006946.3(SPTBN2):c.585C>T (p.Asn195=) rs34775878
NM_006946.3(SPTBN2):c.7020G>A (p.Pro2340=) rs61741217
NM_006946.3(SPTBN2):c.885+5T>C rs114331192
NM_173500.3(TTBK2):c.-8G>A rs16957250
NM_173500.3(TTBK2):c.1555G>C (p.Ala519Pro) rs200124857
NM_173500.3(TTBK2):c.23T>C (p.Leu8Pro) rs6493068
NM_198994.2(TGM6):c.1171G>A (p.Val391Met) rs116904482
NM_198994.2(TGM6):c.1216G>A (p.Glu406Lys) rs144338465
NM_198994.2(TGM6):c.1476G>A (p.Lys492=) rs2295077
NM_198994.2(TGM6):c.172A>G (p.Met58Val) rs2076405
NM_198994.2(TGM6):c.1953_1955dupACA (p.Gln652_Leu653insGln) rs557817405

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