ClinVar Miner

Variants from Molecular Genetics Lab, CHRU Brest with conflicting interpretations

Location: unspecified  Primary collection method: clinical testing
Minimum review status of the submission from Molecular Genetics Lab, CHRU Brest: Collection method of the submission from Molecular Genetics Lab, CHRU Brest:
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
164 28 0 19 2 0 8 29

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
Molecular Genetics Lab, CHRU Brest pathogenic likely pathogenic uncertain significance likely benign
pathogenic 0 12 2 0
likely pathogenic 7 0 4 0
uncertain significance 0 2 0 2

Submitter to submitter summary #

Total submitters: 34
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 13 0 2 1 0 2 5
Institute of Human Genetics, University of Leipzig Medical Center 0 3 0 4 0 0 1 5
Ambry Genetics 0 2 0 2 1 0 0 3
Baylor Genetics 0 7 0 2 0 0 0 2
Counsyl 0 0 0 2 0 0 0 2
Natera, Inc. 0 2 0 0 1 0 1 2
Fulgent Genetics, Fulgent Genetics 0 6 0 2 0 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 0 1 0 0 1 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 2 0 2 0 0 0 2
OMIM 0 16 0 1 0 0 0 1
Genetic Services Laboratory, University of Chicago 0 4 0 0 0 0 1 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 4 0 0 0 0 1 1
GeneDx 0 2 0 1 0 0 0 1
Revvity Omics, Revvity 0 6 0 0 0 0 1 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 0 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 0 2 0 0 0 0 1 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 0 0 1 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 0 1 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 0 1 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 1 0 1 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 1 0 1 0 0 0 1
Undiagnosed Diseases Network, NIH 0 0 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 2 0 1 0 0 0 1
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 0 1 0 0 0 0 1 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 0 0 1 0 0 0 1
Genome Medicine, Institute for Basic Research in Developmental Disabilities 0 0 0 1 0 0 0 1
Genome-Nilou Lab 0 1 0 0 1 0 0 1
3billion 0 2 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 1 0 0 0 1
ClinGen Cerebral Creatine Deficiency Syndromes Variant Curation Expert Panel, ClinGen 0 0 0 1 0 0 0 1
Genomics And Bioinformatics Analysis Resource, Columbia University 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 29
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_182760.4(SUMF1):c.664G>C (p.Gly222Arg) rs137917233 0.00180
NM_001291303.3(FAT4):c.11260A>G (p.Ser3754Gly) rs79909102 0.00061
NM_000360.4(TH):c.292C>T (p.Arg98Ter) rs1057519220 0.00002
NM_031407.7(HUWE1):c.12559C>T (p.Arg4187Cys) rs121918527 0.00002
NM_199292.3(TH):c.-71C>T rs549435434 0.00002
NM_003560.4(PLA2G6):c.1077G>A (p.Ser359=) rs368497893 0.00001
NM_000018.4(ACADVL):c.1616C>A (p.Ala539Asp) rs781613690
NM_000292.3(PHKA2):c.3210_3212del (p.Arg1072del) rs1555989523
NM_000944.5(PPP3CA):c.844G>A (p.Glu282Lys) rs1553923787
NM_001032221.6(STXBP1):c.569G>A (p.Arg190Gln) rs796053356
NM_001083962.2(TCF4):c.1733G>A (p.Arg578His) rs121909123
NM_001110792.2(MECP2):c.1001C>T (p.Pro334Leu) rs61751450
NM_001127222.2(CACNA1A):c.4064C>T (p.Thr1355Ile) rs2056767062
NM_001282531.3(ADNP):c.2188C>T (p.Arg730Ter) rs886041116
NM_001330288.2(SMARCC2):c.1382+1G>A
NM_001356.5(DDX3X):c.959TAG[1] (p.Val321del) rs1555953527
NM_001370658.1(BTD):c.38_44delinsTCC (p.Cys13fs) rs80338684
NM_001614.5(ACTG1):c.983A>G (p.Lys328Arg)
NM_005629.4(SLC6A8):c.1171C>T (p.Arg391Trp) rs1557045267
NM_006772.3(SYNGAP1):c.2059C>T (p.Arg687Ter) rs1060503383
NM_006940.6(SOX5):c.637C>T (p.Arg213Ter) rs767241917
NM_013275.6(ANKRD11):c.2175_2178del (p.Asn725fs) rs886039734
NM_013275.6(ANKRD11):c.2618_2619del (p.Val873fs) rs2034464059
NM_014491.4(FOXP2):c.1658G>A (p.Arg553His) rs121908377
NM_015335.5(MED13L):c.4024C>T (p.Arg1342Cys) rs2137290227
NM_024757.5(EHMT1):c.3459C>T (p.Cys1153=) rs2132793967
NM_130839.5(UBE3A):c.2540C>T (p.Pro847Leu) rs587781239
NM_130839.5(UBE3A):c.2609G>A (p.Gly870Asp) rs587784528
NM_201599.3(ZMYM3):c.3880C>T (p.Arg1294Cys) rs879255361

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