ClinVar Miner

Variants from Wangler Lab, Baylor College of Medicine with conflicting interpretations

Location: United States  Primary collection method: clinical testing
Minimum review status of the submission from Wangler Lab, Baylor College of Medicine: Collection method of the submission from Wangler Lab, Baylor College of Medicine:
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
20 27 0 7 0 0 5 12

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
Wangler Lab, Baylor College of Medicine likely pathogenic uncertain significance
pathogenic 7 2
likely pathogenic 0 2
uncertain significance 1 0

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
Center for Human Genetics, Inc, Center for Human Genetics, Inc 0 1 0 2 0 0 0 2
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 2 0 0 0 2
Ambry Genetics 0 0 0 0 0 0 1 1
MGZ Medical Genetics Center 0 2 0 1 0 0 0 1
Counsyl 0 0 0 0 0 0 1 1
Mendelics 0 0 0 1 0 0 0 1
Gene Discovery Core-Manton Center, Boston Children's Hospital 0 0 0 0 0 0 1 1
CeGaT Center for Human Genetics Tuebingen 0 0 0 0 0 0 1 1
Yale Center for Mendelian Genomics, Yale University 0 0 0 0 0 0 1 1
Genome-Nilou Lab 0 0 0 1 0 0 0 1
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 0 0 0 1 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 12
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) rs80338945 0.00066
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp) rs121913049 0.00013
NM_000466.3(PEX1):c.1777G>A (p.Gly593Arg) rs61750407 0.00001
NM_003221.4(TFAP2B):c.917C>T (p.Thr306Met) rs1232197674 0.00001
NM_000419.5(ITGA2B):c.3076C>T (p.Arg1026Trp) rs766503255
NM_001111.5(ADAR):c.3019G>A (p.Gly1007Arg) rs398122822
NM_001615.4(ACTG2):c.632G>A (p.Arg211Gln) rs1553396458
NM_002016.2(FLG):c.2282_2285del (p.Ser761fs) rs558269137
NM_002063.4(GLRA2):c.887C>T (p.Thr296Met) rs1601761445
NM_003482.4(KMT2D):c.15143G>A (p.Arg5048His) rs886041404
NM_004040.4(RHOB):c.218C>T (p.Ser73Phe) rs550750241
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) rs398123009

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