ClinVar Miner

Variants from Laboratoire de Cytogenetique,Hospices Civils de Lyon with conflicting interpretations

Location: France — Primary collection method: clinical testing
Minimum review status of the submission from Laboratoire de Cytogenetique,Hospices Civils de Lyon: Collection method of the submission from Laboratoire de Cytogenetique,Hospices Civils de Lyon:
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
102 18 0 11 0 0 5 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
Laboratoire de Cytogenetique,Hospices Civils de Lyon pathogenic likely pathogenic uncertain significance
pathogenic 0 4 1
likely pathogenic 7 0 4

Submitter to submitter summary #

Total submitters: 8
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
Ambry Genetics 0 6 0 2 0 0 2 4
OMIM 0 10 0 3 0 0 0 3
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 1 0 1 0 0 2 3
Genetic Services Laboratory, University of Chicago 0 2 0 1 0 0 1 2
GeneDx 0 13 0 2 0 0 0 2
GeneReviews 0 1 0 1 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 1 0 0 0 1
Laboratoire de Génétique Moléculaire Institut de Recherche Necker Enfants Malades,CHU Paris - Hôpital Necker-Enfants Malades 0 1 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 16
Download table as spreadsheet
HGVS dbSNP
NM_000806.5(GABRA1):c.335G>A (p.Arg112Gln) rs587777308
NM_001128849.1(SMARCA4):c.2936G>A (p.Arg979Gln) rs797045981
NM_001271.3(CHD2):c.2095C>T (p.Arg699Trp) rs1131691515
NM_003482.3(KMT2D):c.15461G>A (p.Arg5154Gln) rs886043497
NM_003688.3(CASK):c.2129A>G (p.Asp710Gly) rs137852818
NM_004975.2(KCNB1):c.934C>T (p.Arg312Cys) rs886039396
NM_006245.3(PPP2R5D):c.592G>A (p.Glu198Lys) rs863225082
NM_007118.3(TRIO):c.3232C>T (p.Arg1078Trp) rs1554065887
NM_007327.4(GRIN1):c.679G>C (p.Asp227His) rs869312865
NM_014191.3(SCN8A):c.4877G>A (p.Arg1626His) rs886044328
NM_015265.3(SATB2):c.1165C>T (p.Arg389Cys) rs1057521083
NM_015267.3(CUX2):c.1768G>A (p.Glu590Lys)
NM_018026.3(PACS1):c.607C>T (p.Arg203Trp) rs398123009
NM_022455.4(NSD1):c.4378+1G>A rs587784115
NM_024757.4(EHMT1):c.3589C>T (p.Arg1197Trp) rs137852727
NM_172107.3(KCNQ2):c.430C>T (p.Arg144Trp) rs1555873985

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