ClinVar Miner

Variants from Laboratoire Génétique Moléculaire, CHRU TOURS with conflicting interpretations

Location: France  Primary collection method: clinical testing
Minimum review status of the submission from Laboratoire Génétique Moléculaire, CHRU TOURS: Collection method of the submission from Laboratoire Génétique Moléculaire, CHRU TOURS:
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
47 11 0 13 1 0 1 14

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
Laboratoire Génétique Moléculaire, CHRU TOURS pathogenic likely pathogenic uncertain significance likely benign
pathogenic 0 3 0 0
likely pathogenic 9 0 1 0
benign 0 0 1 1

Submitter to submitter summary #

Total submitters: 16
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
GeneDx 0 10 0 9 0 0 1 10
CeGaT Center for Human Genetics Tuebingen 0 3 0 5 0 0 0 5
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 3 0 0 0 3
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 3 0 2 0 0 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 0 0 1 0 0 0 1
PreventionGenetics, part of Exact Sciences 0 1 0 1 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 0 0 1
Invitae 0 3 0 0 1 0 0 1
Eurofins Ntd Llc (ga) 0 3 0 1 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 1 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 0 1 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 1 0 1 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 3 0 1 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 2 0 1 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 14
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003754.3(EIF3F):c.694T>G (p.Phe232Val) rs141976414 0.00080
NM_145064.3(STAC3):c.851G>C (p.Trp284Ser) rs140291094 0.00039
NM_000266.4(NDP):c.269G>A (p.Arg90His) rs104894867 0.00003
NM_000026.4(ADSL):c.421C>T (p.Arg141Trp) rs756210458 0.00002
NM_001199107.2(TBC1D24):c.1321C>T (p.Arg441Cys) rs775497984 0.00001
NM_000814.6(GABRB3):c.905A>G (p.Tyr302Cys) rs1889966424
NM_001002295.2(GATA3):c.1201_1202del (p.Met401fs) rs1085307641
NM_001110792.2(MECP2):c.353G>A (p.Arg118Gln) rs61754457
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val) rs28934908
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp) rs61751444
NM_003042.4(SLC6A1):c.889G>A (p.Gly297Arg) rs876657400
NM_015443.4(KANSL1):c.1774C>T (p.Arg592Trp) rs774841964
NM_172107.4(KCNQ2):c.431G>A (p.Arg144Gln) rs796052618
NM_172362.3(KCNH1):c.1070G>A (p.Arg357Gln) rs886041300

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