ClinVar Miner

Variants from Cancer Genetics Laboratory,Peter MacCallum Cancer Centre with conflicting interpretations

Location: Australia — Primary collection method: case-control
Minimum review status of the submission from Cancer Genetics Laboratory,Peter MacCallum Cancer Centre: Collection method of the submission from Cancer Genetics Laboratory,Peter MacCallum Cancer Centre:
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
11 23 0 31 31 5 4 62

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
Cancer Genetics Laboratory,Peter MacCallum Cancer Centre pathogenic likely pathogenic uncertain significance likely benign benign risk factor
likely pathogenic 15 0 2 0 0 5
uncertain significance 0 2 0 23 11 0
likely benign 0 0 8 0 16 0

Submitter to submitter summary #

Total submitters: 27
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 36 0 25 18 0 0 43
Color 0 31 0 21 21 0 0 42
Ambry Genetics 0 44 0 18 16 0 0 34
GeneDx 0 38 0 20 12 0 0 32
PALB2 database 0 20 0 19 5 0 3 26
Integrated Genetics/Laboratory Corporation of America 0 16 0 6 10 0 0 16
PreventionGenetics 0 5 0 10 5 0 0 15
Counsyl 0 28 0 8 6 0 0 14
Quest Diagnostics Nichols Institute San Juan Capistrano 0 17 0 8 4 0 0 12
Illumina Clinical Services Laboratory,Illumina 0 11 0 3 8 0 1 12
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 1 0 9 1 0 0 10
Pathway Genomics 0 0 0 5 3 0 0 8
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 0 4 2 0 0 6
OMIM 0 0 0 2 0 5 0 5
True Health Diagnostics 0 14 0 1 4 0 0 5
University of Washington Department of Laboratory Medicine,University of Washington 0 0 0 5 0 0 0 5
Vantari Genetics 0 2 0 1 2 0 0 3
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. 0 6 0 0 3 0 0 3
Genetic Services Laboratory, University of Chicago 0 2 0 0 2 0 0 2
Mendelics 0 6 0 0 2 0 0 2
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 0 0 0 2 0 0 0 2
GeneKor MSA 0 2 0 2 0 0 0 2
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 0 0 1 0 0 1
SNPedia 0 0 0 1 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 2 0 0 1 0 0 1
Clinical Genomics Lab,St. Jude Children's Research Hospital 0 0 0 0 1 0 0 1
German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 62
Download table as spreadsheet
HGVS dbSNP
NM_024675.3(PALB2):c.1010T>C (p.Leu337Ser) rs45494092
NM_024675.3(PALB2):c.1189A>T (p.Thr397Ser) rs367578415
NM_024675.3(PALB2):c.1194G>A (p.Val398=) rs61755173
NM_024675.3(PALB2):c.11C>T (p.Pro4Leu) rs45619737
NM_024675.3(PALB2):c.1250C>A (p.Ser417Tyr) rs45510998
NM_024675.3(PALB2):c.12T>C (p.Pro4=) rs567706422
NM_024675.3(PALB2):c.1470C>T (p.Pro490=) rs45612837
NM_024675.3(PALB2):c.1478C>T (p.Pro493Leu) rs770965402
NM_024675.3(PALB2):c.1492G>T (p.Asp498Tyr) rs75023630
NM_024675.3(PALB2):c.1544A>G (p.Lys515Arg) rs515726072
NM_024675.3(PALB2):c.1572A>G (p.Ser524=) rs45472400
NM_024675.3(PALB2):c.1610C>T (p.Ser537Leu) rs142103232
NM_024675.3(PALB2):c.1623G>A (p.Arg541=) rs745665968
NM_024675.3(PALB2):c.1676A>G (p.Gln559Arg) rs152451
NM_024675.3(PALB2):c.1699C>T (p.His567Tyr) rs370422990
NM_024675.3(PALB2):c.172_175delTTGT (p.Gln60Argfs) rs180177143
NM_024675.3(PALB2):c.1947dupA (p.Glu650Argfs) rs515726075
NM_024675.3(PALB2):c.194C>T (p.Pro65Leu) rs62625272
NM_024675.3(PALB2):c.196C>T (p.Gln66Ter) rs180177083
NM_024675.3(PALB2):c.2014G>C (p.Glu672Gln) rs45532440
NM_024675.3(PALB2):c.2067G>A (p.Ser689=) rs371149159
NM_024675.3(PALB2):c.2135C>T (p.Ala712Val) rs141458731
NM_024675.3(PALB2):c.2228A>G (p.Tyr743Cys) rs141749524
NM_024675.3(PALB2):c.2244A>G (p.Thr748=) rs750048627
NM_024675.3(PALB2):c.2289G>C (p.Leu763Phe) rs373478248
NM_024675.3(PALB2):c.232G>A (p.Val78Ile) rs515726085
NM_024675.3(PALB2):c.2360C>T (p.Thr787Ile) rs201042302
NM_024675.3(PALB2):c.2379C>T (p.Gly793=) rs377626805
NM_024675.3(PALB2):c.2386G>T (p.Gly796Ter) rs180177112
NM_024675.3(PALB2):c.2391delA (p.Gln797Hisfs) rs1555460360
NM_024675.3(PALB2):c.2417C>T (p.Pro806Leu) rs45464991
NM_024675.3(PALB2):c.2478C>T (p.Asn826=) rs786201885
NM_024675.3(PALB2):c.2590C>T (p.Pro864Ser) rs45568339
NM_024675.3(PALB2):c.2674G>A (p.Glu892Lys) rs45476495
NM_024675.3(PALB2):c.2742C>T (p.Phe914=) rs115759702
NM_024675.3(PALB2):c.2794G>A (p.Val932Met) rs45624036
NM_024675.3(PALB2):c.2816T>G (p.Leu939Trp) rs45478192
NM_024675.3(PALB2):c.2959_2966dup (p.Glu990Asnfs) rs875989792
NM_024675.3(PALB2):c.2982dupT (p.Ala995Cysfs) rs180177127
NM_024675.3(PALB2):c.298C>T (p.Leu100Phe) rs61756147
NM_024675.3(PALB2):c.2993G>A (p.Gly998Glu) rs45551636
NM_024675.3(PALB2):c.3054G>C (p.Glu1018Asp) rs183489969
NM_024675.3(PALB2):c.3113G>A (p.Trp1038Ter) rs180177132
NM_024675.3(PALB2):c.3116delA (p.Asn1039Ilefs) rs180177133
NM_024675.3(PALB2):c.3256C>T (p.Arg1086Ter) rs587776527
NM_024675.3(PALB2):c.3300T>G (p.Thr1100=) rs45516100
NM_024675.3(PALB2):c.3307G>A (p.Val1103Met) rs201657283
NM_024675.3(PALB2):c.3362delG (p.Gly1121Valfs) rs515726117
NM_024675.3(PALB2):c.3428T>A (p.Leu1143His) rs62625284
NM_024675.3(PALB2):c.344G>T (p.Gly115Val) rs145598272
NM_024675.3(PALB2):c.3507_3508delTC (p.His1170Phefs) rs587776428
NM_024675.3(PALB2):c.3549C>G (p.Tyr1183Ter) rs118203998
NM_024675.3(PALB2):c.400G>A (p.Asp134Asn) rs139555085
NM_024675.3(PALB2):c.508A>G (p.Arg170Gly) rs864622622
NM_024675.3(PALB2):c.53A>G (p.Lys18Arg) rs138789658
NM_024675.3(PALB2):c.629C>T (p.Pro210Leu) rs57605939
NM_024675.3(PALB2):c.656A>G (p.Asp219Gly) rs45594034
NM_024675.3(PALB2):c.758dupT (p.Ser254Ilefs) rs515726126
NM_024675.3(PALB2):c.860dupT (p.Ser288Lysfs) rs864622301
NM_024675.3(PALB2):c.899C>T (p.Thr300Ile) rs528541334
NM_024675.3(PALB2):c.925A>G (p.Ile309Val) rs3809683
NM_024675.3(PALB2):c.94C>G (p.Leu32Val) rs151316635

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