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 Variants with at least 2 submissions 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 kind of conflict
50 0 0 2 8 0 7 15

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 pathogenic uncertain significance likely benign benign
pathogenic 0 2 0 0
likely pathogenic 0 3 1 1
likely benign 1 8 0 2

Submitter to submitter summary #

Total submitters: 9
Download table as spreadsheet
Submitter Variants with only 1 submission Variants with at least 2 submissions 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 kind of conflict
Invitae 0 2 0 1 1 0 4 6
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 0 1 3 0 1 5
Ambry Genetics 0 1 0 1 1 0 2 4
OMIM 0 0 0 0 0 0 1 1
Athena Diagnostics Inc 0 0 0 0 1 0 0 1
Integrated Genetics/Laboratory Corporation of America 0 1 0 0 0 0 1 1
Illumina Clinical Services Laboratory,Illumina 0 1 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
ClinGen CDH1 Variant Curation Expert Panel 0 0 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 15
Download table as spreadsheet
HGVS dbSNP
NM_000142.4(FGFR3):c.1879G>A (p.Glu627Lys) rs200849753
NM_000264.4(PTCH1):c.1306G>A (p.Asp436Asn) rs142274954
NM_000264.4(PTCH1):c.3191C>T (p.Thr1064Met) rs368417828
NM_000264.4(PTCH1):c.3241G>A (p.Val1081Met) rs587778629
NM_000264.4(PTCH1):c.3889C>T (p.Arg1297Trp) rs372027952
NM_000264.4(PTCH1):c.3947A>G (p.Tyr1316Cys) rs147067171
NM_001604.5(PAX6):c.192C>A (p.Asn64Lys) rs727504064
NM_004360.5(CDH1):c.670C>T (p.Arg224Cys) rs200310662
NM_005270.4(GLI2):c.1859C>T (p.Thr620Met) rs142775128
NM_017617.5(NOTCH1):c.2434G>A (p.Gly812Arg) rs201620755
NM_020366.3(RPGRIP1):c.808A>G (p.Ile270Val) rs372615343
NM_025074.6(FRAS1):c.9364C>T (p.Arg3122Trp) rs200346497
NM_144966.5(FREM1):c.1493G>A (p.Arg498Gln) rs184394424
NM_177438.2(DICER1):c.2191G>A (p.Glu731Lys) rs869025262
NM_182894.2(VSX2):c.667G>A (p.Gly223Arg) rs755799430

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