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 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
12 29 0 29 27 0 0 55

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 uncertain significance likely benign benign
likely pathogenic 15 0 0 0
uncertain significance 0 0 13 10
likely benign 0 7 0 14

Submitter to submitter summary #

Total submitters: 10
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
Invitae 0 31 0 27 24 0 0 51
Leiden Open Variation Database 0 10 0 9 6 0 0 15
Counsyl 0 28 0 8 6 0 0 14
Pathway Genomics 0 0 0 5 3 0 0 8
Institute of Human Genetics, University of Leipzig Medical Center 0 0 0 4 2 0 0 6
Mendelics 0 11 0 1 3 0 0 4
Integrated Genetics/Laboratory Corporation of America 0 0 0 2 0 0 0 2
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 0 0 2 0 0 0 2
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 0 1 0 1 0 0 0 1
Division of Medical Genetics, University of Washington 0 1 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 55
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.1431C>T (p.Thr477=) rs515726068
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.1572A>G (p.Ser524=) rs45472400
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.1947dup (p.Glu650fs) rs515726075
NM_024675.3(PALB2):c.196C>T (p.Gln66Ter) rs180177083
NM_024675.3(PALB2):c.2067G>A (p.Ser689=) rs371149159
NM_024675.3(PALB2):c.2228A>G (p.Tyr743Cys) rs141749524
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.2386G>T (p.Gly796Ter) rs180177112
NM_024675.3(PALB2):c.2391del (p.Gln797fs) rs1555460360
NM_024675.3(PALB2):c.2590C>T (p.Pro864Ser) rs45568339
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.2959_2966dup (p.Glu990fs) rs875989792
NM_024675.3(PALB2):c.2982dup (p.Ala995fs) 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.3116del (p.Asn1039fs) 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.3362del (p.Gly1121fs) rs515726117
NM_024675.3(PALB2):c.344G>T (p.Gly115Val) rs145598272
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.758dup (p.Ser254fs) rs515726126
NM_024675.3(PALB2):c.860dup (p.Ser288fs) 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
NM_024675.4(PALB2):c.1250C>A (p.Ser417Tyr) rs45510998
NM_024675.4(PALB2):c.1544A>G (p.Lys515Arg) rs515726072
NM_024675.4(PALB2):c.172_175del (p.Gln60fs) rs180177143
NM_024675.4(PALB2):c.2014G>C (p.Glu672Gln) rs45532440
NM_024675.4(PALB2):c.2135C>T (p.Ala712Val) rs141458731
NM_024675.4(PALB2):c.2379C>T (p.Gly793=) rs377626805
NM_024675.4(PALB2):c.2816T>G (p.Leu939Trp) rs45478192
NM_024675.4(PALB2):c.3428T>A (p.Leu1143His) rs62625284
NM_024675.4(PALB2):c.3507_3508del (p.His1170fs) rs587776428
NM_024675.4(PALB2):c.656A>G (p.Asp219Gly) rs45594034

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