ClinVar Miner

Variants from Donald Williams Parsons Laboratory,Baylor College of Medicine with conflicting interpretations

Location: United States — Primary collection method: clinical testing
Minimum review status of the submission from Donald Williams Parsons Laboratory,Baylor College of Medicine: Collection method of the submission from Donald Williams Parsons Laboratory,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 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
49 4 2 9 0 20 3 30

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
Donald Williams Parsons Laboratory,Baylor College of Medicine pathogenic likely pathogenic uncertain significance association drug response risk factor
pathogenic 2 9 2 0 1 1
likely pathogenic 0 0 1 0 0 0
other 11 10 4 2 0 0

Submitter to submitter summary #

Total submitters: 36
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
Database of Curated Mutations (DoCM) 0 0 0 4 0 9 0 13
OMIM 0 9 0 0 0 9 0 9
Invitae 0 6 0 1 0 3 1 5
GeneDx 0 7 0 1 0 2 1 4
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 4 0 0 0 2 1 3
Color 0 2 0 0 0 2 1 3
Ambry Genetics 0 7 0 0 0 1 1 2
Counsyl 0 1 0 1 0 1 0 2
GeneReviews 0 3 2 0 0 0 0 2
Rajkovic Lab, University of Pittsburgh 0 0 0 0 0 2 0 2
Stanford Center for Inherited Cardiovascular Disease,Stanford University 0 0 0 1 0 0 1 2
GeneKor MSA 0 1 0 1 0 1 0 2
Baylor Miraca Genetics Laboratories, 0 1 0 0 0 0 1 1
Center for Human Genetics, Inc 0 2 0 0 0 1 0 1
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 1 0 1 0 0 0 1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 5 0 1 0 0 0 1
Mendelics 0 2 0 1 0 0 0 1
Sharing Clinical Reports Project (SCRP) 0 0 0 0 0 1 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 1 0 0 0 1 0 1
Richard Lifton Laboratory, Yale University School of Medicine 0 0 0 0 0 1 0 1
PharmGKB 0 0 0 0 0 1 0 1
Breast Cancer Information Core (BIC) (BRCA1) 0 0 0 0 0 1 0 1
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 0 0 0 0 0 1 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 0 0 0 1 0 1
Illumina Clinical Services Laboratory,Illumina 0 0 0 0 0 0 1 1
CSER_CC_NCGL; University of Washington Medical Center 0 2 0 1 0 0 0 1
University of Washington Center for Mendelian Genomics,University of Washington 0 0 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology 0 1 0 1 0 0 0 1
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. 0 1 0 0 0 1 0 1
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge 0 0 0 0 0 1 0 1
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 1 0 1 0 0 0 1
Endocrine oncology group,Uppsala University 0 0 0 1 0 0 0 1
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto 0 0 0 0 0 1 0 1
Medical Genetics Summaries 0 0 0 0 0 1 0 1
University of Washington Department of Laboratory Medicine,University of Washington 0 1 0 1 0 0 0 1
German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne 0 1 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 30
Download table as spreadsheet
HGVS dbSNP
NC_012920.1:m.1555A>G rs267606617
NM_000059.3(BRCA2):c.1075G>A (p.Glu359Lys) rs1555281730
NM_000136.2(FANCC):c.1663C>T (p.Arg555Ter) rs370974124
NM_000222.2(KIT):c.2446G>C (p.Asp816His) rs121913506
NM_000222.2(KIT):c.2447A>T (p.Asp816Val) rs121913507
NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln) rs121909374
NM_000335.4(SCN5A):c.3908C>T (p.Thr1303Met) rs199473603
NM_000546.5(TP53):c.743G>A (p.Arg248Gln) rs11540652
NM_000548.4(TSC2):c.2764_2765delTT (p.Leu922Valfs) rs1555508929
NM_000551.3(VHL):c.499C>T (p.Arg167Trp) rs5030820
NM_001123383.1(BCOR):c.3781_3782delAG (p.Leu1262Phefs) rs886042842
NM_001128425.1(MUTYH):c.1187G>A (p.Gly396Asp) rs36053993
NM_001904.3(CTNNB1):c.101G>A (p.Gly34Glu) rs28931589
NM_001904.3(CTNNB1):c.121A>G (p.Thr41Ala) rs121913412
NM_001904.3(CTNNB1):c.133_135del (p.Ser45del) rs587776850
NM_001904.3(CTNNB1):c.134C>T (p.Ser45Phe) rs121913409
NM_001904.3(CTNNB1):c.94G>T (p.Asp32Tyr) rs28931588
NM_001904.3(CTNNB1):c.98C>G (p.Ser33Cys) rs121913400
NM_001904.3(CTNNB1):c.98C>T (p.Ser33Phe) rs121913400
NM_002734.4(PRKAR1A):c.329C>T (p.Ala110Val) rs1194755479
NM_002834.4(PTPN11):c.1508G>T (p.Gly503Val) rs397507546
NM_003506.3(FZD6):c.346C>T (p.Arg116Ter) rs769116796
NM_003748.3(ALDH4A1):c.866+1G>A rs78532707
NM_004985.4(KRAS):c.194G>T (p.Ser65Ile) rs1555194026
NM_005120.2(MED12):c.130G>A (p.Gly44Ser) rs199469669
NM_005120.2(MED12):c.131G>A (p.Gly44Asp) rs199469672
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) rs121913279
NM_007294.3(BRCA1):c.1504_1508delTTAAA (p.Leu502Alafs) rs80357888
NM_016038.2(SBDS):c.258+2T>C rs113993993
NM_023110.2(FGFR1):c.1638C>A (p.Asn546Lys) rs779707422

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