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 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
46 69 3 9 26 0 7 36

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 pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 1 5 3 0 0
likely pathogenic 0 0 2 0 0
uncertain significance 1 1 2 21 10
likely benign 0 0 4 0 4

Submitter to submitter summary #

Total submitters: 29
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
Invitae 0 48 0 3 15 0 1 19
Color 0 42 0 2 16 0 1 19
GeneDx 0 40 0 0 12 0 0 12
Ambry Genetics 0 63 0 1 9 0 1 11
Integrated Genetics/Laboratory Corporation of America 0 27 0 1 8 0 0 9
Sharing Clinical Reports Project (SCRP) 0 16 0 1 5 0 0 6
Illumina Clinical Services Laboratory,Illumina 0 2 0 0 5 0 0 5
Counsyl 0 26 0 1 3 0 0 4
Quest Diagnostics Nichols Institute San Juan Capistrano 0 22 0 1 3 0 0 4
Department of Pathology and Laboratory Medicine,Sinai Health System 0 13 0 1 3 0 0 4
Biesecker Lab/Human Development Section,National Institutes of Health 0 0 2 0 0 0 1 3
Mendelics 0 6 0 1 2 0 0 3
Fulgent Genetics 0 3 0 0 2 0 1 3
Breast Cancer Information Core (BIC) (BRCA1) 0 15 0 0 1 0 2 3
PreventionGenetics 0 3 0 0 2 0 0 2
Database of Curated Mutations (DoCM) 0 0 0 2 0 0 0 2
OMIM 0 9 0 0 0 0 1 1
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 1 0 0 0 0 1 1
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 4 0 0 1 0 0 1
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 0 0 1 0 0 1
GeneReviews 0 0 1 0 0 0 0 1
Breast Cancer Information Core (BIC) (BRCA2) 0 11 0 0 1 0 0 1
CSER_CC_NCGL; University of Washington Medical Center 0 2 0 0 1 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 1 0 0 1 0 0 1
Laboratory of Molecular Diagnosis of Cancer,West China Hospital, Sichuan University 0 10 0 0 1 0 0 1
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency 0 1 0 0 1 0 0 1
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto 0 14 0 1 0 0 0 1
Cancer Diagnostics Division,Gene Solutions 0 0 0 1 0 0 0 1
ClinGen CDH1 Variant Curation Expert Panel 0 0 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 36
Download table as spreadsheet
HGVS dbSNP
NM_000038.5(APC):c.2204C>T (p.Ala735Val) rs147655929
NM_000038.5(APC):c.2527A>G (p.Ser843Gly) rs536223189
NM_000038.5(APC):c.3374T>C (p.Val1125Ala) rs377278397
NM_000038.5(APC):c.3378C>G (p.Ser1126Arg) rs149353082
NM_000038.5(APC):c.3511C>T (p.Arg1171Cys) rs201830995
NM_000038.5(APC):c.3927_3931delAAAGA (p.Glu1309Aspfs) rs121913224
NM_000038.5(APC):c.5912C>G (p.Ser1971Cys) rs754691867
NM_000038.5(APC):c.757G>A (p.Gly253Ser) rs772806807
NM_000038.5(APC):c.8332G>T (p.Ala2778Ser) rs587778046
NM_000038.5(APC):c.95A>G (p.Asn32Ser) rs539108537
NM_000059.3(BRCA2):c.10150C>T (p.Arg3384Ter) rs397507568
NM_000059.3(BRCA2):c.1166C>A (p.Pro389Gln) rs397507263
NM_000059.3(BRCA2):c.1568A>G (p.His523Arg) rs80358443
NM_000059.3(BRCA2):c.215A>G (p.Asn72Ser) rs276174818
NM_000059.3(BRCA2):c.2482T>C (p.Tyr828His) rs1060502466
NM_000059.3(BRCA2):c.353G>A (p.Arg118His) rs80358603
NM_000059.3(BRCA2):c.440A>G (p.Gln147Arg) rs80358674
NM_000059.3(BRCA2):c.5170A>G (p.Ile1724Val) rs35335654
NM_000059.3(BRCA2):c.6325G>A (p.Val2109Ile) rs79456940
NM_000059.3(BRCA2):c.63A>G (p.Lys21=) rs1280004443
NM_000059.3(BRCA2):c.7522G>A (p.Gly2508Ser) rs80358978
NM_000059.3(BRCA2):c.8356G>A (p.Ala2786Thr) rs80359077
NM_000179.2(MSH6):c.4068_4071dupGATT (p.Lys1358Aspfs) rs55740729
NM_000249.3(MLH1):c.793C>T (p.Arg265Cys) rs63751194
NM_004360.5(CDH1):c.1018A>G (p.Thr340Ala) rs116093741
NM_004360.5(CDH1):c.1296C>G (p.Asn432Lys) rs187862045
NM_007294.3(BRCA1):c.116G>A (p.Cys39Tyr) rs80357498
NM_007294.3(BRCA1):c.1961delA (p.Lys654Serfs) rs80357522
NM_007294.3(BRCA1):c.2083G>A (p.Asp695Asn) rs28897681
NM_007294.3(BRCA1):c.3327_3329delAAA (p.Lys1110del) rs80357575
NM_007294.3(BRCA1):c.3448C>T (p.Pro1150Ser) rs80357272
NM_007294.3(BRCA1):c.5141T>G (p.Val1714Gly) rs80357243
NM_007294.3(BRCA1):c.5156delT (p.Val1719Glyfs) rs1057517590
NM_007294.3(BRCA1):c.811G>A (p.Val271Met) rs80357244
NM_020975.4(RET):c.2753T>C (p.Met918Thr) rs74799832
NM_020975.5(RET):c.1900T>C (p.Cys634Arg) rs75076352

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.