ClinVar Miner

Variants from Autoinflammatory diseases unit,CHU de Montpellier with conflicting interpretations

Location: France — Primary collection method: clinical testing
Minimum review status of the submission from Autoinflammatory diseases unit,CHU de Montpellier: Collection method of the submission from Autoinflammatory diseases unit,CHU de Montpellier:
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
150 31 0 20 0 0 2 21

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
Autoinflammatory diseases unit,CHU de Montpellier pathogenic likely pathogenic uncertain significance likely benign
pathogenic 0 16 1 0
likely pathogenic 4 0 1 1

Submitter to submitter summary #

Total submitters: 13
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
Center for Human Genetics, Inc,Center for Human Genetics, Inc 0 9 0 9 0 0 2 11
Shaikh Laboratory, University of Colorado 0 0 0 4 0 0 0 4
Invitae 0 23 0 2 0 0 1 3
OMIM 0 4 0 1 0 0 0 1
Genetic Services Laboratory, University of Chicago 0 13 0 1 0 0 0 1
Clinical Genetics laboratory, University of Goettingen 0 0 0 1 0 0 0 1
GeneDx 0 2 0 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 0 0 0 0 1 1
UCLA Clinical Genomics Center, UCLA 0 0 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 0 1 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 2 0 1 0 0 0 1
Clinical Genomics Program, Stanford Medicine 0 1 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 21
Download table as spreadsheet
HGVS dbSNP
NM_001032280.3(TFAP2A):c.742C>T (p.Arg248Trp) rs151344528
NM_001032280.3(TFAP2A):c.749C>T (p.Ala250Val) rs151344531
NM_001330311.2(DVL1):c.1687_1691dup (p.Ser564fs) rs1553173372
NM_003070.5(SMARCA2):c.3602C>T (p.Ala1201Val) rs281875189
NM_003091.4(SNRPB):c.155+301G>C rs786201019
NM_003482.3(KMT2D):c.12469C>T (p.Gln4157Ter) rs1555188080
NM_003482.3(KMT2D):c.14189G>A (p.Trp4730Ter) rs1555186527
NM_003482.3(KMT2D):c.15061C>T (p.Arg5021Ter) rs587783695
NM_003482.3(KMT2D):c.15142C>T (p.Arg5048Cys) rs398123724
NM_003482.3(KMT2D):c.15536G>A (p.Arg5179His) rs267607237
NM_003482.3(KMT2D):c.15797G>A (p.Arg5266His) rs201481646
NM_003482.3(KMT2D):c.16501C>T (p.Arg5501Ter) rs886041398
NM_003482.3(KMT2D):c.5627_5630del (p.Asp1876fs) rs1555193738
NM_003482.3(KMT2D):c.6114G>A (p.Trp2038Ter) rs1592138822
NM_003482.3(KMT2D):c.6595del (p.Tyr2199fs) rs398123753
NM_003482.3(KMT2D):c.8053C>T (p.Arg2685Ter) rs587783727
NM_003482.3(KMT2D):c.8743C>T (p.Arg2915Ter) rs587783729
NM_003482.3(KMT2D):c.9961C>T (p.Arg3321Ter) rs793888512
NM_003482.4(KMT2D):c.16480ATC[3] (p.Ile5497del) rs587783704
NM_003482.4(KMT2D):c.4135_4136del rs398123744
NM_021140.3(KDM6A):c.3835C>T (p.Arg1279Ter) rs863224886

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