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:

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
242 107 0 67 5 0 35 99

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 0 67 32 1 0
uncertain significance 2 1 0 3 2
likely benign 0 0 1 0 0

Submitter to submitter summary #

Total submitters: 59
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
Labcorp Genetics (formerly Invitae), Labcorp 0 91 0 1 1 0 22 24
Solve-RD Consortium 0 0 0 15 0 0 0 15
Fulgent Genetics, Fulgent Genetics 0 13 0 8 1 0 1 10
Genomics England Pilot Project, Genomics England 0 2 0 8 0 0 0 8
3billion 0 16 0 5 0 0 2 7
GeneDx 0 2 0 1 3 0 2 6
Genome-Nilou Lab 0 16 0 6 0 0 0 6
MGZ Medical Genetics Center 0 6 0 5 0 0 1 6
Revvity Omics, Revvity 0 2 0 3 0 0 2 5
SIB Swiss Institute of Bioinformatics 0 3 0 5 0 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 20 0 3 1 0 1 5
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 2 0 4 0 0 0 4
Inherited Neuropathy Consortium Ii, University Of Miami 0 0 0 0 0 0 4 4
PROSPAX: an integrated multimodal progression chart in spastic ataxias, Center for Neurology; Hertie-Institute for Clinical Brain Research 0 36 0 3 0 0 1 4
Baylor Genetics 0 12 0 2 1 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 5 0 2 0 0 1 3
Genetic Services Laboratory, University of Chicago 0 4 0 3 0 0 0 3
Illumina Laboratory Services, Illumina 0 2 0 1 1 0 1 3
Mayo Clinic Laboratories, Mayo Clinic 0 1 0 0 2 0 1 3
Molecular Genetics, Royal Melbourne Hospital 0 7 0 0 0 0 3 3
Neurogenetics Laboratory, Gh Pitie Salpetriere Aphp 0 0 0 3 0 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 19 0 2 1 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 2 0 0 2 0 0 2
Athena Diagnostics 0 3 0 0 2 0 0 2
CeGaT Center for Human Genetics Tuebingen 0 5 0 0 2 0 0 2
Counsyl 0 2 0 2 0 0 0 2
Department of Human Genetics, Hannover Medical School 0 1 0 2 0 0 0 2
Eurofins Ntd Llc (ga) 0 0 0 0 1 0 1 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 7 0 1 0 0 1 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 2 0 2 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 7 0 2 0 0 0 2
Natera, Inc. 0 3 0 2 0 0 0 2
PreventionGenetics, part of Exact Sciences 0 0 0 1 1 0 0 2
Service de Génétique Médicale, Centre Hospitalier Universitaire de Nice-Université Côte d'Azur 0 0 0 2 0 0 0 2
Variantyx, Inc. 0 8 0 2 0 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 2 0 0 1 0 0 1
Clinical Genetics, Academic Medical Center 0 0 0 0 1 0 0 1
Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital 0 0 0 1 0 0 0 1
Dasa 0 3 0 1 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 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
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 1 0 0 0 1
Genetic Foundation of Khorasan Razavi (GFKR) 0 5 0 1 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 1 0 0 1 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 2 0 0 1 0 0 1
Groupe Hospitalier Pitie Salpetriere, Uf Genomique Du Developpement, Assistance Publique Hopitaux de Paris Sorbonne Université 0 0 0 1 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 2 0 1 0 0 0 1
Institute of Human Genetics Munich, TUM University Hospital 0 20 0 1 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 0 0 0 0 1 1
Institute of Human Genetics, University of Leipzig Medical Center 0 11 0 1 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 0 0 1 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 6 0 1 0 0 0 1
Lifecell International Pvt. Ltd 0 0 0 1 0 0 0 1
Myriad Genetics, Inc. 0 1 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 6 0 1 0 0 0 1
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 0 9 0 1 0 0 0 1
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 0 2 0 1 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 0 1 0 0 0 1
Undiagnosed Diseases Network, NIH 0 1 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 99
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_015046.7(SETX):c.2975A>G (p.Lys992Arg) rs61742937 0.01405
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) rs61755320 0.00364
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser) rs141659620 0.00102
NM_004820.5(CYP7B1):c.1456C>T (p.Arg486Cys) rs116171274 0.00051
NM_014946.4(SPAST):c.1735A>C (p.Asn579His) rs144594804 0.00031
NM_024306.5(FA2H):c.232G>A (p.Glu78Lys) rs527421775 0.00024
NM_003119.4(SPG7):c.233T>A (p.Leu78Ter) rs121918358 0.00019
NM_001244008.2(KIF1A):c.882+8G>A rs376552408 0.00018
NM_005186.4(CAPN1):c.1605+5G>A rs375817528 0.00011
NM_006612.6(KIF1C):c.2920G>A (p.Asp974Asn) rs550136320 0.00011
NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro) rs201689565 0.00010
NM_006612.6(KIF1C):c.1346A>G (p.Lys449Arg) rs142046798 0.00008
NM_004820.5(CYP7B1):c.334C>T (p.Arg112Ter) rs200737038 0.00007
NM_015214.3(DDHD2):c.1978G>C (p.Asp660His) rs375168720 0.00006
NM_003119.4(SPG7):c.2228T>C (p.Ile743Thr) rs752623413 0.00005
NM_025137.4(SPG11):c.733_734del (p.Met245fs) rs312262720 0.00005
NM_183075.3(CYP2U1):c.1376C>T (p.Pro459Leu) rs747965749 0.00005
NM_003119.4(SPG7):c.861+2dup rs771256761 0.00004
NM_003119.4(SPG7):c.1553-2_1553-1del rs772828460 0.00003
NM_025137.4(SPG11):c.2834+1G>T rs312262749 0.00003
NM_183075.3(CYP2U1):c.1462C>T (p.Arg488Trp) rs141431913 0.00003
NM_015214.3(DDHD2):c.724C>T (p.Arg242Cys) rs1380005347 0.00002
NM_015214.3(DDHD2):c.725G>A (p.Arg242His) rs767497993 0.00002
NM_003119.4(SPG7):c.1409G>A (p.Arg470Gln) rs756535079 0.00001
NM_003119.4(SPG7):c.1730G>A (p.Gly577Asp) rs1329063851 0.00001
NM_003119.4(SPG7):c.2084T>C (p.Leu695Pro) rs864622094 0.00001
NM_004820.5(CYP7B1):c.1061G>A (p.Ser354Asn) rs753708048 0.00001
NM_004820.5(CYP7B1):c.1249C>T (p.Arg417Cys) rs367916692 0.00001
NM_004984.4(KIF5A):c.967C>T (p.Arg323Trp) rs1012819766 0.00001
NM_007126.5(VCP):c.283C>T (p.Arg95Cys) rs121909332 0.00001
NM_014363.6(SACS):c.12973C>T (p.Arg4325Ter) rs762947018 0.00001
NM_014946.4(SPAST):c.1245+1G>A rs875989878 0.00001
NM_015346.4(ZFYVE26):c.3382C>T (p.Gln1128Ter) rs988442865 0.00001
NM_015915.5(ATL1):c.1483C>T (p.Arg495Trp) rs864622269 0.00001
NM_020919.4(ALS2):c.575C>T (p.Pro192Leu) rs778003334 0.00001
NM_020944.3(GBA2):c.1905G>A (p.Thr635=) rs369401526 0.00001
NM_001244008.2(KIF1A):c.1013A>G (p.Tyr338Cys) rs2125976707
NM_001244008.2(KIF1A):c.206C>T (p.Ser69Leu) rs786200949
NM_001244008.2(KIF1A):c.232G>A (p.Gly78Ser) rs1057518760
NM_001244008.2(KIF1A):c.32G>A (p.Arg11Gln) rs1575654528
NM_001244008.2(KIF1A):c.500G>A (p.Arg167His) rs2054757914
NM_001244008.2(KIF1A):c.773C>T (p.Thr258Met) rs1553638086
NM_001244008.2(KIF1A):c.821C>T (p.Ser274Leu) rs797045655
NM_001244008.2(KIF1A):c.865-24CT[2] rs140674901
NM_001253852.3(AP4B1):c.1160_1161del (p.Thr387fs) rs587779388
NM_001371279.1(REEP1):c.56C>T (p.Pro19Leu) rs1060503496
NM_003119.4(SPG7):c.1033G>C (p.Ala345Pro) rs368373840
NM_003119.4(SPG7):c.1049_1077del (p.Pro350fs) rs775364547
NM_003119.4(SPG7):c.1169T>C (p.Val390Ala) rs2058357964
NM_003119.4(SPG7):c.1450-1_1457del rs768823392
NM_003119.4(SPG7):c.1763C>T (p.Thr588Met) rs778387199
NM_003119.4(SPG7):c.759-11_759-8del rs758385553
NM_003384.3(VRK1):c.788A>G (p.Asp263Gly) rs1428656431
NM_004984.4(KIF5A):c.416A>G (p.Tyr139Cys) rs2140159368
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.6172del (p.Ser2058fs) rs1214399996
NM_014363.6(SACS):c.699del (p.Asp235fs) rs1415870785
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.1173G>A (p.Leu391=) rs1679218212
NM_014946.4(SPAST):c.1174-1G>A rs1553317024
NM_014946.4(SPAST):c.1196C>T (p.Ser399Leu) rs1553317025
NM_014946.4(SPAST):c.1206CTT[1] (p.Phe404del) rs1553317028
NM_014946.4(SPAST):c.1216A>G (p.Ile406Val) rs587777757
NM_014946.4(SPAST):c.1271G>C (p.Arg424Thr) rs2148753672
NM_014946.4(SPAST):c.1276C>T (p.Leu426Phe) rs1060502227
NM_014946.4(SPAST):c.1291C>T (p.Arg431Ter) rs786204126
NM_014946.4(SPAST):c.1340T>C (p.Leu447Ser) rs2148753950
NM_014946.4(SPAST):c.1396C>G (p.Leu466Val) rs1553318252
NM_014946.4(SPAST):c.1413+1_1413+2del rs1679558544
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.1483G>T (p.Ala495Ser) rs1060502228
NM_014946.4(SPAST):c.1496G>A (p.Arg499His) rs878854991
NM_014946.4(SPAST):c.1550T>C (p.Leu517Ser) rs2148759388
NM_014946.4(SPAST):c.1553T>C (p.Leu518Pro) rs1553319290
NM_014946.4(SPAST):c.1616+5G>A rs2148759485
NM_014946.4(SPAST):c.1684C>T (p.Arg562Ter) rs121908518
NM_014946.4(SPAST):c.1715T>C (p.Met572Thr) rs138146982
NM_014946.4(SPAST):c.1728+1G>A rs587777754
NM_014946.4(SPAST):c.1742G>C (p.Arg581Pro) rs749484350
NM_014946.4(SPAST):c.67_85dup (p.Leu29fs) rs1676388641
NM_015346.4(ZFYVE26):c.1129del (p.Cys377fs) rs2140250002
NM_015346.4(ZFYVE26):c.1971C>G (p.Tyr657Ter) rs2040001177
NM_015915.5(ATL1):c.1220A>T (p.Lys407Met) rs2039539459
NM_015915.5(ATL1):c.1243C>T (p.Arg415Trp) rs119476050
NM_015915.5(ATL1):c.1306A>G (p.Asn436Asp) rs2140239163
NM_015915.5(ATL1):c.715C>T (p.Arg239Cys) rs119476046
NM_015915.5(ATL1):c.751C>A (p.Gln251Lys) rs1595615134
NM_015915.5(ATL1):c.757G>A (p.Val253Ile) rs864622520
NM_020919.4(ALS2):c.4832G>A (p.Arg1611Gln) rs1689578912
NM_024306.5(FA2H):c.822del (p.Val275fs) rs2144601954
NM_025137.4(SPG11):c.1235C>G (p.Ser412Ter) rs312262723
NM_025137.4(SPG11):c.5989_5992del (p.Leu1997fs) rs312262776
NM_144599.5(NIPA1):c.316G>A (p.Gly106Arg) rs104894490
NM_144599.5(NIPA1):c.403G>A (p.Val135Met) rs763295984
NM_183075.3(CYP2U1):c.784T>C (p.Cys262Arg) rs397514515

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.