ClinVar Miner

Variants from Laboratory of Molecular Diagnosis of Cancer,West China Hospital, Sichuan University with conflicting interpretations

Location: China — Primary collection method: research
Minimum review status of the submission from Laboratory of Molecular Diagnosis of Cancer,West China Hospital, Sichuan University: Collection method of the submission from Laboratory of Molecular Diagnosis of Cancer,West China Hospital, Sichuan 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 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
24 60 1 3 29 0 2 33

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 Diagnosis of Cancer,West China Hospital, Sichuan University pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 2 0 0 0
likely pathogenic 1 0 2 0 0
uncertain significance 0 0 1 29 10

Submitter to submitter summary #

Total submitters: 16
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
Color 0 28 0 0 21 0 0 21
Invitae 0 34 0 0 16 0 1 17
Ambry Genetics 0 43 0 0 15 0 1 16
GeneDx 0 27 0 0 14 0 0 14
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 0 35 0 0 13 0 0 13
Sharing Clinical Reports Project (SCRP) 0 23 0 0 7 0 1 8
Counsyl 0 14 0 1 6 0 0 7
Integrated Genetics/Laboratory Corporation of America 0 22 0 0 6 0 0 6
Quest Diagnostics Nichols Institute San Juan Capistrano 0 23 0 1 4 0 0 5
Department of Pathology and Laboratory Medicine,Sinai Health System 0 10 0 0 5 0 0 5
Biesecker Lab/Human Development Section,National Institutes of Health 0 0 1 0 0 0 0 1
Illumina Clinical Services Laboratory,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
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge 0 22 0 1 0 0 0 1
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency 0 0 0 0 1 0 0 1
3DMed Clinical Laboratory Inc 0 10 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 33
Download table as spreadsheet
HGVS dbSNP
NM_000059.3(BRCA2):c.1462A>G (p.Ile488Val) rs864622352
NM_000059.3(BRCA2):c.1568A>G (p.His523Arg) rs80358443
NM_000059.3(BRCA2):c.171C>T (p.Tyr57=) rs201523522
NM_000059.3(BRCA2):c.2127G>C (p.Leu709=) rs554040246
NM_000059.3(BRCA2):c.2136G>T (p.Leu712=) rs886037813
NM_000059.3(BRCA2):c.3256A>G (p.Ile1086Val) rs80358571
NM_000059.3(BRCA2):c.352C>T (p.Arg118Cys) rs375125172
NM_000059.3(BRCA2):c.4578A>G (p.Thr1526=) rs202022822
NM_000059.3(BRCA2):c.4915G>A (p.Val1639Ile) rs80358716
NM_000059.3(BRCA2):c.5683G>A (p.Glu1895Lys) rs146351301
NM_000059.3(BRCA2):c.6325G>A (p.Val2109Ile) rs79456940
NM_000059.3(BRCA2):c.67+1G>C rs81002796
NM_000059.3(BRCA2):c.7188G>A (p.Leu2396=) rs587780871
NM_000059.3(BRCA2):c.7509C>T (p.Val2503=) rs766080516
NM_000059.3(BRCA2):c.7521A>G (p.Pro2507=) rs759383358
NM_000059.3(BRCA2):c.7522G>A (p.Gly2508Ser) rs80358978
NM_000059.3(BRCA2):c.7545A>G (p.Thr2515=) rs767555621
NM_000059.3(BRCA2):c.8632G>A (p.Glu2878Lys) rs398122710
NM_000059.3(BRCA2):c.9285C>T (p.Asp3095=) rs80359198
NM_007294.3(BRCA1):c.1392C>T (p.Thr464=) rs533802049
NM_007294.3(BRCA1):c.192T>G (p.Cys64Trp) rs587781632
NM_007294.3(BRCA1):c.2268G>T (p.Arg756Ser) rs80356884
NM_007294.3(BRCA1):c.2286A>T (p.Arg762Ser) rs273898682
NM_007294.3(BRCA1):c.2726A>T (p.Asn909Ile) rs80357127
NM_007294.3(BRCA1):c.3448C>T (p.Pro1150Ser) rs80357272
NM_007294.3(BRCA1):c.4166G>A (p.Ser1389Asn) rs78951648
NM_007294.3(BRCA1):c.446A>C (p.Glu149Ala) rs397507233
NM_007294.3(BRCA1):c.4803A>G (p.Lys1601=) rs886037794
NM_007294.3(BRCA1):c.5068A>C (p.Lys1690Gln) rs397507239
NM_007294.3(BRCA1):c.5503C>T (p.Arg1835Ter) rs41293465
NM_007294.3(BRCA1):c.744C>G (p.Thr248=) rs886037791
NM_007294.3(BRCA1):c.824G>A (p.Gly275Asp) rs397509327
NM_007294.3(BRCA1):c.837T>C (p.His279=) rs775477245

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.