ClinVar Miner

Variants from 3DMed Clinical Laboratory Inc with conflicting interpretations

Location: China  Primary collection method: clinical testing
Minimum review status of the submission from 3DMed Clinical Laboratory Inc: Collection method of the submission from 3DMed Clinical Laboratory Inc:
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
110 27 2 3 12 0 1 14

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
3DMed Clinical Laboratory Inc likely pathogenic uncertain significance likely benign benign
pathogenic 1 0 0 0
uncertain significance 1 2 9 7
likely benign 0 1 0 2

Submitter to submitter summary #

Total submitters: 18
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
GeneDx 0 15 0 0 8 0 0 8
Quest Diagnostics Nichols Institute San Juan Capistrano 0 10 0 2 6 0 0 8
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 7 0 2 4 0 0 6
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 3 0 1 4 0 0 5
PreventionGenetics, part of Exact Sciences 0 5 0 0 3 0 0 3
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 0 2 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 2 0 0 2 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 3 0 0 2 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 3 0 0 2 0 0 2
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University 0 0 0 0 1 0 1 2
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 0 2 0 0 1 0 0 1
Illumina Laboratory Services, Illumina 0 0 0 0 1 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 0 1 0 0 1
Laboratory of Molecular Diagnosis of Cancer, West China Hospital, Sichuan University 0 4 0 0 1 0 0 1
CeGaT Center for Human Genetics Tuebingen 0 2 0 0 1 0 0 1
Database of Curated Mutations (DoCM) 0 0 0 1 0 0 0 1
Cancer Genetics and Genomics Laboratory, British Columbia Cancer Agency 0 0 0 0 1 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 0 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 14
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000038.6(APC):c.3511C>T (p.Arg1171Cys) rs201830995 0.00028
NM_000059.4(BRCA2):c.440A>G (p.Gln147Arg) rs80358674 0.00025
NM_000038.6(APC):c.3374T>C (p.Val1125Ala) rs377278397 0.00018
NM_000038.6(APC):c.2204C>T (p.Ala735Val) rs147655929 0.00012
NM_000059.4(BRCA2):c.1568A>G (p.His523Arg) rs80358443 0.00009
NM_000038.6(APC):c.8332G>T (p.Ala2778Ser) rs587778046 0.00006
NM_000059.4(BRCA2):c.6325G>A (p.Val2109Ile) rs79456940 0.00006
NM_000059.4(BRCA2):c.7522G>A (p.Gly2508Ser) rs80358978 0.00004
NM_007294.4(BRCA1):c.811G>A (p.Val271Met) rs80357244 0.00003
NM_000059.4(BRCA2):c.353G>A (p.Arg118His) rs80358603 0.00002
NM_000038.6(APC):c.3378C>G (p.Ser1126Arg) rs149353082 0.00001
NM_000059.4(BRCA2):c.10150C>T (p.Arg3384Ter) rs397507568 0.00001
NM_000059.4(BRCA2):c.2186T>C (p.Ile729Thr) rs431825296 0.00001
NM_020975.6(RET):c.2753T>C (p.Met918Thr) rs74799832

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