ClinVar Miner

Variants from Paul Sabatier University EA-4555, Paul Sabatier University with conflicting interpretations

Location: France  Primary collection method: clinical testing
Minimum review status of the submission from Paul Sabatier University EA-4555, Paul Sabatier University: Collection method of the submission from Paul Sabatier University EA-4555, Paul Sabatier University:
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
49 0 0 5 9 0 4 16

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
Paul Sabatier University EA-4555, Paul Sabatier University likely pathogenic uncertain significance likely benign benign
pathogenic 1 2 0 0
likely pathogenic 0 0 2 0
likely benign 0 9 0 4

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
Invitae 0 0 0 1 5 0 0 6
Eurofins Ntd Llc (ga) 0 0 0 1 2 0 1 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 0 2 1 0 0 3
Quest Diagnostics Nichols Institute San Juan Capistrano 0 1 0 1 0 0 2 3
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 2 0 0 3
GeneDx 0 3 0 0 2 0 0 2
CeGaT Center for Human Genetics Tuebingen 0 0 0 0 2 0 0 2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 0 2 0 0 2
Athena Diagnostics Inc 0 0 0 0 1 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 1 0 0 1
Revvity Omics, Revvity 0 0 0 0 1 0 0 1
PreventionGenetics, part of Exact Sciences 0 3 0 0 0 0 1 1
Clinical Genetics, Academic Medical Center 0 0 0 1 0 0 0 1
Illumina Laboratory Services, Illumina 0 0 0 0 0 0 1 1
Department of Genetics, Reproduction and Fetal Medicine., Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío/CSIC/University of Seville. 0 0 0 0 1 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 1 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 16
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004557.4(NOTCH4):c.2443T>G (p.Cys815Gly) rs150079294 0.00397
NM_001374353.1(GLI2):c.1808C>T (p.Thr603Met) rs142775128 0.00099
NM_020366.4(RPGRIP1):c.808A>G (p.Ile270Val) rs372615343 0.00084
NM_000264.5(PTCH1):c.1306G>A (p.Asp436Asn) rs142274954 0.00083
NM_025074.7(FRAS1):c.9364C>T (p.Arg3122Trp) rs200346497 0.00046
NM_017617.5(NOTCH1):c.2434G>A (p.Gly812Arg) rs201620755 0.00029
NM_004360.5(CDH1):c.670C>T (p.Arg224Cys) rs200310662 0.00021
NM_000264.5(PTCH1):c.3191C>T (p.Thr1064Met) rs368417828 0.00020
NM_000142.5(FGFR3):c.1879G>A (p.Glu627Lys) rs200849753 0.00007
NM_000264.5(PTCH1):c.3241G>A (p.Val1081Met) rs587778629 0.00007
NM_001128205.2(SULF1):c.529G>A (p.Gly177Ser) rs538017286 0.00004
NM_001291303.3(FAT4):c.7966A>C (p.Lys2656Gln) rs760398912 0.00002
NM_182894.3(VSX2):c.667G>A (p.Gly223Arg) rs755799430 0.00001
NM_001368894.2(PAX6):c.192C>A (p.Asn64Lys) rs727504064
NM_004312.3(ARR3):c.1052C>T (p.Pro351Leu) rs140505250
NM_177438.3(DICER1):c.2191G>A (p.Glu731Lys) rs869025262

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