ClinVar Miner

Variants from Eurofins-Biomnis with conflicting interpretations

Location: France  Primary collection method: clinical testing
Minimum review status of the submission from Eurofins-Biomnis: Collection method of the submission from Eurofins-Biomnis:
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
51 26 0 25 0 2 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
Eurofins-Biomnis pathogenic likely pathogenic uncertain significance benign association established risk allele likely risk allele risk factor
pathogenic 0 7 2 0 0 0 0 0
likely pathogenic 18 0 6 2 2 1 1 1
uncertain significance 0 1 0 0 0 0 0 0

Submitter to submitter summary #

Total submitters: 41
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 8 0 4 0 2 2 8
OMIM 0 10 0 4 0 0 0 4
Baylor Genetics 0 7 0 3 0 0 1 4
Ambry Genetics 0 0 0 2 0 0 1 3
Counsyl 0 1 0 2 0 0 1 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 3 0 0 0 3
Mendelics 0 3 0 1 0 0 2 3
Revvity Omics, Revvity 0 3 0 1 0 0 1 2
Sema4, Sema4 0 0 0 1 0 0 1 2
Fulgent Genetics, Fulgent Genetics 0 5 0 2 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 3 0 1 0 0 1 2
Illumina Laboratory Services, Illumina 0 2 0 0 0 0 2 2
Institute of Human Genetics, University of Leipzig Medical Center 0 4 0 1 0 1 0 2
Pars Genome Lab 0 0 0 1 0 0 1 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 0 0 0 0 1 1
Center for Human Genetics, Inc, Center for Human Genetics, Inc 0 1 0 1 0 0 0 1
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 0 0 0 0 0 1 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 1 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 0 0 0 0 1 1
GeneDx 0 0 0 0 0 0 1 1
Medical Genomics Laboratory, Department of Genetics UAB 0 0 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 0 2 0 1 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 0 0 0 1 0 1
MyeliNeuroGene Lab, McGill University Health Center Research Institute 0 0 0 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 2 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 7 0 1 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 1 0 0 0 1
RettBASE 0 1 0 0 0 0 1 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 0 1 0 0 0 1
UW Hindbrain Malformation Research Program, University of Washington 0 0 0 1 0 0 0 1
Genetic Diagnostic Laboratory, University of Szeged 0 0 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 2 0 1 0 0 0 1
Undiagnosed Diseases Network, NIH 0 0 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 0 1 0 0 0 1
Cavalleri Lab, Royal College of Surgeons in Ireland 0 1 0 1 0 0 0 1
Myriad Genetics, Inc. 0 1 0 1 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 0 1 0 0 0 1
Genome-Nilou Lab 0 3 0 1 0 0 0 1
Molecular Biology Laboratory, Fundació Puigvert 0 2 0 1 0 0 0 1
3billion 0 6 0 1 0 0 0 1
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 0 0 1 0 1

All variants with conflicting interpretations #

Total variants: 30
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001379610.1(SPINK1):c.101A>G (p.Asn34Ser) rs17107315 0.00797
NM_007272.3(CTRC):c.760C>T (p.Arg254Trp) rs121909293 0.00386
NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro) rs200302125 0.00257
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) rs1800111 0.00208
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu) rs74315294 0.00134
NM_021828.5(HPSE2):c.1465_1466del (p.Asn489fs) rs397515338 0.00019
NM_000492.4(CFTR):c.489+3A>G rs377729736 0.00016
NM_015506.3(MMACHC):c.389A>G (p.Tyr130Cys) rs200094982 0.00014
NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu) rs140511594 0.00011
NM_006767.4(LZTR1):c.1396C>T (p.Arg466Trp) rs550922200 0.00006
NM_000092.5(COL4A4):c.2986G>A (p.Gly996Arg) rs370474706 0.00004
NM_015631.6(TCTN3):c.3G>A (p.Met1Ile) rs745688122 0.00002
NM_031885.5(BBS2):c.1780C>T (p.Arg594Ter) rs762047808 0.00002
NM_021828.5(HPSE2):c.1516C>T (p.Arg506Ter) rs267606866 0.00001
NM_022489.4(INF2):c.641G>A (p.Arg214His) rs267606879 0.00001
NM_203290.4(POLR1C):c.88C>T (p.Pro30Ser) rs1057519455 0.00001
NM_000070.3(CAPN3):c.146G>A (p.Arg49His) rs863224958
NM_000092.5(COL4A4):c.594+1G>A rs1553690565
NM_000101.4(CYBA):c.295_301del (p.Val99fs)
NM_001009944.3(PKD1):c.1543G>A (p.Gly515Arg) rs1555458704
NM_001009944.3(PKD1):c.2534T>A (p.Leu845Ter) rs199476100
NM_001009944.3(PKD1):c.3381_3387dup (p.Ala1130fs)
NM_001009944.3(PKD1):c.7984C>T (p.Gln2662Ter) rs757768731
NM_001042492.3(NF1):c.5269-8C>G rs1597831805
NM_001065.4(TNFRSF1A):c.251G>A (p.Cys84Tyr) rs104895224
NM_001110792.2(MECP2):c.535C>T (p.Arg179Trp) rs61748420
NM_001271.4(CHD2):c.3782G>T (p.Trp1261Leu) rs1555444603
NM_001282531.3(ADNP):c.1222_1223del (p.Lys408fs) rs1555810376
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) rs398123009
NM_152296.5(ATP1A3):c.2324C>T (p.Pro775Leu) rs886041396

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