ClinVar Miner

Variants from Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris 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: Collection method of the submission from Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris:
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
46 16 0 8 0 0 1 8

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 pathogenic likely pathogenic likely benign
pathogenic 0 4 0
likely pathogenic 4 0 1

Submitter to submitter summary #

Total submitters: 12
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 6 0 3 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center 0 0 0 1 0 0 0 1
GeneDx 0 0 0 1 0 0 0 1
Invitae 0 7 0 0 0 0 1 1
Mendelics 0 0 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 0 0 1 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 0 1 0 0 0 1
Kasturba Medical College, Manipal University 0 0 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 1 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 0 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
GenomeConnect - Simons Searchlight 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 8
Download table as spreadsheet
HGVS dbSNP
NM_001040142.2(SCN2A):c.2558G>A (p.Arg853Gln) rs794727152
NM_001128126.3(AP4S1):c.289C>T (p.Arg97Ter) rs200440467
NM_001282531.3(ADNP):c.2156dup (p.Tyr719Ter) rs1135401808
NM_004321.7(KIF1A):c.920G>A (p.Arg307Gln) rs1064793161
NM_006348.5(COG5):c.2231C>T (p.Pro744Leu) rs1135401817
NM_015335.4(MED13L):c.5588+1G>A rs1135401810
NM_016335.5(PRODH):c.1397C>T (p.Thr466Met) rs2870984
NM_172107.4(KCNQ2):c.1004C>T (p.Pro335Leu) rs796052641

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