ClinVar Miner

Variants from Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University with conflicting interpretations

Location: France  Primary collection method: research
Minimum review status of the submission from Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University: Collection method of the submission from Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg 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
87 24 0 10 0 0 5 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
Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University likely pathogenic uncertain significance
pathogenic 10 4
likely pathogenic 0 1

Submitter to submitter summary #

Total submitters: 7
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 26 0 4 0 0 3 7
Counsyl 0 1 0 2 0 0 0 2
Fulgent Genetics, Fulgent Genetics 0 2 0 2 0 0 0 2
Broad Institute Rare Disease Group, Broad Institute 0 1 0 1 0 0 1 2
Eurofins Ntd Llc (ga) 0 0 0 0 0 0 1 1
Illumina Laboratory Services, Illumina 0 1 0 1 0 0 0 1
Molecular Biology Laboratory, Fundació Puigvert 0 1 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 15
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00212
NM_014714.4(IFT140):c.1565G>A (p.Gly522Glu) rs199826737 0.00009
NM_014714.4(IFT140):c.634G>A (p.Gly212Arg) rs201188361 0.00008
NM_152618.3(BBS12):c.1055A>C (p.Gln352Pro) rs767068756 0.00005
NM_001378454.1(ALMS1):c.283C>T (p.Gln95Ter) rs750326619 0.00001
NM_014714.4(IFT140):c.454C>T (p.Leu152Phe) rs1403669200 0.00001
NM_024649.5(BBS1):c.436C>T (p.Arg146Ter) rs786204444 0.00001
NM_031885.5(BBS2):c.522T>A (p.Asp174Glu) rs767373822 0.00001
NM_033028.5(BBS4):c.883C>T (p.Arg295Ter) rs775710800 0.00001
NM_138364.4(PRMT9):c.773A>T (p.Asp258Val) rs200956405 0.00001
NM_152618.3(BBS12):c.1574G>A (p.Arg525His) rs776730549 0.00001
NM_152618.3(BBS12):c.65T>C (p.Phe22Ser) rs565073445 0.00001
NM_024649.5(BBS1):c.1125C>G (p.Ser375Arg) rs1565287512
NM_152618.3(BBS12):c.1893_1894del (p.Pro632fs) rs1560708847
NM_198428.3(BBS9):c.263+4A>G rs370916293

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