ClinVar Miner

Variants from Laboratory of Molecular Genetics,CHU RENNES with conflicting interpretations

Location: France — Primary collection method: clinical testing
Minimum review status of the submission from Laboratory of Molecular Genetics,CHU RENNES: Collection method of the submission from Laboratory of Molecular Genetics,CHU RENNES:
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
53 3 0 9 0 0 2 11

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
Laboratory of Molecular Genetics,CHU RENNES pathogenic uncertain significance
likely pathogenic 9 1
uncertain significance 1 0

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
GeneDx 0 0 0 5 0 0 1 6
OMIM 0 0 0 3 0 0 0 3
Invitae 0 1 0 2 0 0 0 2
GeneReviews 0 0 0 2 0 0 0 2
Baylor Miraca Genetics Laboratories, 0 0 0 1 0 0 0 1
Genetic Services Laboratory, University of Chicago 0 0 0 0 0 0 1 1
Ambry Genetics 0 0 0 1 0 0 0 1
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 11
Download table as spreadsheet
HGVS dbSNP
NM_000834.4(GRIN2B):c.1672G>A (p.Val558Ile) rs1057519004
NM_000834.4(GRIN2B):c.2084T>C (p.Ile695Thr) rs876661219
NM_001083962.1(TCF4):c.1738C>T (p.Arg580Trp) rs121909120
NM_001111125.2(IQSEC2):c.804del (p.Tyr269Thrfs) rs886041481
NM_001197104.1(KMT2A):c.3301C>T (p.Arg1101Ter) rs886041856
NM_006516.3(SLC2A1):c.988C>T (p.Arg330Ter) rs80359826
NM_015100.3(POGZ):c.1180_1181delAT (p.Met394Valfs) rs1057518170
NM_023110.2(FGFR1):c.1468G>C (p.Gly490Arg) rs869025670
NM_033163.3(FGF8):c.385C>T (p.Arg129Ter) rs876661330
NM_134260.2(RORA):c.1118delG (p.Arg373Profs) rs1057518981
NM_172107.3(KCNQ2):c.602G>A (p.Arg201His) rs1057516085

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