ClinVar Miner

Variants from Paris Brain Institute,Inserm - ICM with conflicting interpretations

Location: France — Primary collection method: clinical testing
Minimum review status of the submission from Paris Brain Institute,Inserm - ICM: Collection method of the submission from Paris Brain Institute,Inserm - ICM:
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
307 69 17 30 3 0 14 61

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 submitters
Paris Brain Institute,Inserm - ICM pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 17 30 13 0 0
uncertain significance 1 0 0 1 2

Submitter to submitter summary #

Total submitters: 25
Download table as spreadsheet
Submitter 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
Invitae 0 59 0 6 0 0 13 19
GeneReviews 0 0 17 0 0 0 0 17
SIB Swiss Institute of Bioinformatics 0 3 0 5 0 0 0 5
Genetic Services Laboratory, University of Chicago 0 4 0 3 0 0 0 3
Counsyl 0 2 0 3 0 0 0 3
Fulgent Genetics,Fulgent Genetics 0 1 0 1 0 0 2 3
Neurogenetics Laboratory,GH Pitie Salpetriere APHP 0 0 0 3 0 0 0 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 5 0 2 0 0 1 3
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 0 2 0 0 2
GeneDx 0 1 0 1 1 0 0 2
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 0 0 1 0 1 2
Illumina Clinical Services Laboratory,Illumina 0 2 0 0 0 0 2 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 2 0 0 0 2
Baylor Genetics 0 8 0 0 0 0 1 1
Athena Diagnostics Inc 0 2 0 0 1 0 0 1
PreventionGenetics, PreventionGenetics 0 0 0 0 1 0 0 1
Integrated Genetics/Laboratory Corporation of America 0 2 0 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 1 0 0 0 0 1 1
Institute of Human Genetics, Klinikum rechts der Isar 0 9 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 0 1 0 0 0 1
Oxford Medical Genetics Laboratories,Oxford University Hospitals NHS Foundation Trust 0 2 0 1 0 0 0 1
Undiagnosed Diseases Network,NIH 0 1 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 4 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 1 0 1 0 0 0 1
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital,College of Medicine, The Catholic University of Korea 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 61
Download table as spreadsheet
HGVS dbSNP
NM_001127713.1(ATL1):c.1243C>T (p.Arg415Trp) rs119476050
NM_001127713.1(ATL1):c.715C>T (p.Arg239Cys) rs119476046
NM_001244008.2(KIF1A):c.500G>A (p.Arg167His)
NM_001244008.2(KIF1A):c.865-24CT[2] rs140674901
NM_001271803.2(REEP2):c.119T>G (p.Met40Arg)
NM_003119.2(SPG7):c.1529C>T rs61755320
NM_003119.3(SPG7):c.1454_1462delGGCGGGAGA (p.Arg485_Glu487del) rs768823392
NM_003119.4(SPG7):c.1033G>C (p.Ala345Pro) rs368373840
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser) rs141659620
NM_003119.4(SPG7):c.1409G>A (p.Arg470Gln) rs756535079
NM_003119.4(SPG7):c.861+2dup
NM_004321.7(KIF1A):c.206C>T (p.Ser69Leu) rs786200949
NM_004321.7(KIF1A):c.232G>A (p.Gly78Ser) rs1057518760
NM_004321.7(KIF1A):c.32G>A (p.Arg11Gln) rs1575654528
NM_004321.7(KIF1A):c.882+8G>A rs376552408
NM_004820.5(CYP7B1):c.334C>T (p.Arg112Ter) rs200737038
NM_005186.4(CAPN1):c.1605+5G>A rs375817528
NM_006612.6(KIF1C):c.1346A>G (p.Lys449Arg) rs142046798
NM_006612.6(KIF1C):c.2920G>A (p.Asp974Asn) rs550136320
NM_007126.5(VCP):c.283C>T (p.Arg95Cys) rs121909332
NM_014363.6(SACS):c.11374C>T (p.Arg3792Ter) rs565203731
NM_014363.6(SACS):c.12923_12927del (p.Lys4308fs) rs1057517294
NM_014363.6(SACS):c.12973C>T (p.Arg4325Ter) rs762947018
NM_014363.6(SACS):c.6172del (p.Ser2058fs) rs1214399996
NM_014846.4(WASHC5):c.1771T>C (p.Ser591Pro) rs1554593901
NM_014846.4(WASHC5):c.1876G>T (p.Val626Phe) rs80338867
NM_014855.3(AP5Z1):c.1573A>C (p.Lys525Gln) rs186003800
NM_014946.4(SPAST):c.1174-1G>A rs1553317024
NM_014946.4(SPAST):c.1196C>T rs1553317025
NM_014946.4(SPAST):c.1252G>A rs1553318164
NM_014946.4(SPAST):c.1276C>T rs1060502227
NM_014946.4(SPAST):c.1340T>C (p.Leu447Ser)
NM_014946.4(SPAST):c.1360G>A rs1553318230
NM_014946.4(SPAST):c.1413+1_1413+2del
NM_014946.4(SPAST):c.1413+3_1413+6del rs570685843
NM_014946.4(SPAST):c.1437_1438del (p.Arg479fs) rs864622268
NM_014946.4(SPAST):c.1450G>C rs1553318317
NM_014946.4(SPAST):c.1483G>T (p.Ala495Ser)
NM_014946.4(SPAST):c.1496G>A rs878854991
NM_014946.4(SPAST):c.1553T>C (p.Leu518Pro) rs1553319290
NM_014946.4(SPAST):c.67_85dup (p.Leu29fs)
NM_015046.7(SETX):c.2975A>G (p.Lys992Arg) rs61742937
NM_015214.3(DDHD2):c.1978G>C (p.Asp660His) rs375168720
NM_015214.3(DDHD2):c.725G>A (p.Arg242His) rs767497993
NM_020919.4(ALS2):c.3619del (p.Lys1206_Met1207insTer) rs386134187
NM_024306.5(FA2H):c.232G>A (p.Glu78Lys) rs527421775
NM_025137.4(SPG11):c.1203del (p.Asp402fs) rs312262722
NM_025137.4(SPG11):c.1235C>G (p.Ser412Ter) rs312262723
NM_025137.4(SPG11):c.1471_1472del (p.Leu491fs) rs312262727
NM_025137.4(SPG11):c.1837_1838insA (p.Leu613fs) rs312262735
NM_025137.4(SPG11):c.1951C>T (p.Arg651Ter) rs199588440
NM_025137.4(SPG11):c.2834+1G>T rs312262749
NM_025137.4(SPG11):c.3075dup (p.Glu1026fs) rs312262752
NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro) rs201689565
NM_025137.4(SPG11):c.5769del (p.Ser1923fs) rs312262770
NM_025137.4(SPG11):c.5989_5992del (p.Leu1997fs) rs312262776
NM_025137.4(SPG11):c.6100C>T (p.Arg2034Ter) rs118203963
NM_025137.4(SPG11):c.6898_6899del (p.Leu2300fs) rs312262786
NM_025137.4(SPG11):c.704_705del (p.His235fs) rs312262719
NM_025137.4(SPG11):c.733_734del (p.Met245fs) rs312262720
NM_144599.5(NIPA1):c.403G>A (p.Val135Met) rs763295984

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