ClinVar Miner

Variants from Groupe Hospitalier Pitie Salpetriere, Uf Genomique Du Developpement, Assistance Publique Hopitaux de Paris Sorbonne Université with conflicting interpretations

Location: France  Primary collection method: clinical testing
Minimum review status of the submission from Groupe Hospitalier Pitie Salpetriere, Uf Genomique Du Developpement, Assistance Publique Hopitaux de Paris Sorbonne Université: Collection method of the submission from Groupe Hospitalier Pitie Salpetriere, Uf Genomique Du Developpement, Assistance Publique Hopitaux de Paris Sorbonne Université:
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
76 22 0 23 0 0 10 30

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
Groupe Hospitalier Pitie Salpetriere, Uf Genomique Du Developpement, Assistance Publique Hopitaux de Paris Sorbonne Université pathogenic likely pathogenic uncertain significance likely benign
pathogenic 0 13 3 0
likely pathogenic 10 0 6 2

Submitter to submitter summary #

Total submitters: 44
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
OMIM 0 10 0 6 0 0 0 6
Labcorp Genetics (formerly Invitae), Labcorp 0 8 0 1 0 0 4 5
Revvity Omics, Revvity 0 2 0 4 0 0 1 5
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 2 0 2 0 0 1 3
Institute of Human Genetics, University of Leipzig Medical Center 0 3 0 3 0 0 0 3
3billion 0 6 0 1 0 0 1 2
Baylor Genetics 0 2 0 0 0 0 2 2
Institute of Human Genetics, Heidelberg University 0 0 0 2 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 2 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 0 0 2 0 0 0 2
Solve-RD Consortium 0 0 0 1 0 0 1 2
Ambry Genetics 0 0 0 1 0 0 1 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 1 0 0 0 1
CeGaT Center for Human Genetics Tuebingen 0 0 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 0 1 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 1 0 1 0 0 0 1
Dr.Nikuei Genetic Center 0 0 0 1 0 0 0 1
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 0 0 1 0 0 0 1
Fulgent Genetics, Fulgent Genetics 0 2 0 1 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 0 1 0 0 1 1
GeneDx 0 0 0 1 0 0 0 1
GeneReviews 0 2 0 1 0 0 0 1
Genetic Foundation of Khorasan Razavi (GFKR) 0 0 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 0 0 0 0 1 1
GenomeConnect - Simons Searchlight 0 0 0 1 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 1 0 0 0 1
Illumina Laboratory Services, Illumina 0 1 0 1 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 0 0 1 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 1 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 0 1 0 0 0 1
Laboratory of Medical Genetics, University of Torino 0 1 0 1 0 0 0 1
MGZ Medical Genetics Center 0 0 0 0 0 0 1 1
Mendelics 0 0 0 1 0 0 0 1
Molecular Medicine, University of Pavia 0 0 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 1 0 0 0 1
Neurogenetics Research Program, University of Adelaide 0 0 0 1 0 0 0 1
Paris Brain Institute, Inserm - ICM 0 0 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 0 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 2 0 1 0 0 0 1
Suzhou Clinical Center for Rare Diseases in Children, Children's Hospital of Soochow University 0 0 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 0 0 1 0 0 0 1
Undiagnosed Diseases Network, NIH 0 1 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 4 0 1 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 2 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 30
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_016335.6(PRODH):c.1397C>T (p.Thr466Met) rs2870984 0.00314
NM_001386393.1(PANK2):c.1231G>A (p.Gly411Arg) rs137852959 0.00024
NM_001128126.3(AP4S1):c.289C>T (p.Arg97Ter) rs200440467 0.00009
NM_001930.4(DHPS):c.518A>G (p.Asn173Ser) rs758100382 0.00005
NM_001083961.2(WDR62):c.2515C>T (p.Arg839Trp) rs377731205 0.00002
NM_001371596.2(MFSD8):c.416G>A (p.Arg139His) rs749704755 0.00001
NM_006348.5(COG5):c.2231C>T (p.Pro744Leu) rs1135401817 0.00001
NM_000489.6(ATRX):c.4865C>T (p.Ala1622Val) rs1135401793
NM_000807.4(GABRA2):c.862A>G (p.Thr288Ala) rs2475296530
NM_001040142.2(SCN2A):c.2558G>A (p.Arg853Gln) rs794727152
NM_001195518.2(MICU1):c.40del (p.Ala14fs) rs749124658
NM_001244008.2(KIF1A):c.920G>A (p.Arg307Gln) rs1064793161
NM_001282531.3(ADNP):c.2156dup (p.Tyr719Ter) rs1135401808
NM_001374828.1(ARID1B):c.6199C>T (p.Arg2067Ter) rs1028186690
NM_001658.4(ARF1):c.278A>G (p.Asp93Gly) rs2124857932
NM_001658.4(ARF1):c.296G>A (p.Arg99His) rs1558087712
NM_003042.4(SLC6A1):c.223G>A (p.Gly75Arg) rs1064795852
NM_003184.4(TAF2):c.2380T>A (p.Tyr794Asn) rs2131063622
NM_003384.3(VRK1):c.788A>G (p.Asp263Gly) rs1428656431
NM_005458.8(GABBR2):c.1699G>A (p.Ala567Thr) rs922847767
NM_006772.3(SYNGAP1):c.490C>T (p.Arg164Ter) rs1057518352
NM_013275.6(ANKRD11):c.6982dup (p.Arg2328fs) rs1555525088
NM_013275.6(ANKRD11):c.7753C>T (p.Arg2585Cys) rs1567537304
NM_015335.5(MED13L):c.5588+1G>A rs1135401810
NM_015692.5(CPAMD8):c.1758+1_1758+4del rs577740063
NM_031844.3(HNRNPU):c.16delinsATT (p.Val6fs) rs1135401794
NM_172107.4(KCNQ2):c.1004C>T (p.Pro335Leu) rs796052641
NM_181789.4(GLDN):c.1423G>C (p.Ala475Pro) rs764239923
NM_205861.3(DHDDS):c.112C>T (p.Arg38Cys) rs2124374558
Single allele

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