ClinVar Miner

Variants from Hereditary Cancer Laboratory, Hospital Universitario 12 de Octubre with conflicting interpretations

Location: Spain  Primary collection method: clinical testing
Minimum review status of the submission from Hereditary Cancer Laboratory, Hospital Universitario 12 de Octubre: Collection method of the submission from Hereditary Cancer Laboratory, Hospital Universitario 12 de Octubre:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:

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
43 115 0 26 40 0 4 69

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
Hereditary Cancer Laboratory, Hospital Universitario 12 de Octubre pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 4 0 0 0
likely pathogenic 2 0 2 0 0
uncertain significance 1 1 0 35 6
likely benign 0 0 3 0 15
benign 0 0 0 5 0

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
Ambry Genetics 0 134 0 11 31 0 2 44
Color Diagnostics, LLC DBA Color Health 0 92 0 11 14 0 2 27
Sema4, Sema4 0 50 0 9 6 0 0 15
Molecular Diagnostics Laboratory, Catalan Institute of Oncology 0 18 0 3 7 0 0 10
University of Washington Department of Laboratory Medicine, University of Washington 0 0 0 1 6 0 0 7
Counsyl 0 1 0 1 0 0 0 1
GeneKor MSA 0 13 0 0 1 0 0 1
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C. 0 12 0 1 0 0 0 1
Laboratorio de I+D, Fundación Centro Médico de Asturias 0 0 0 0 1 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 69
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001903.5(CTNNA1):c.2343A>G (p.Gln781=) rs75050399 0.00996
NM_000264.5(PTCH1):c.2937C>T (p.Asn979=) rs58629309 0.00436
NM_004656.4(BAP1):c.1002A>G (p.Leu334=) rs28997577 0.00310
NM_000465.4(BARD1):c.1977A>G (p.Arg659=) rs147215925 0.00230
NM_007294.4(BRCA1):c.4113G>A (p.Gly1371=) rs147448807 0.00135
NM_058216.3(RAD51C):c.195A>G (p.Arg65=) rs45511291 0.00105
NM_024675.4(PALB2):c.2851T>C (p.Ser951Pro) rs149522412 0.00056
NM_000249.4(MLH1):c.1410-10T>G rs372053184 0.00044
NM_000059.4(BRCA2):c.6842-20T>A rs81002811 0.00036
NM_000251.3(MSH2):c.2154A>G (p.Gln718=) rs63750810 0.00033
NM_000251.3(MSH2):c.1680T>C (p.Asn560=) rs200056411 0.00032
NM_000251.3(MSH2):c.471C>A (p.Gly157=) rs61756463 0.00029
NM_000051.4(ATM):c.1595G>A (p.Cys532Tyr) rs35963548 0.00026
NM_000059.4(BRCA2):c.5170A>G (p.Ile1724Val) rs35335654 0.00023
NM_000546.6(TP53):c.216C>T (p.Pro72=) rs56275308 0.00022
NM_000535.7(PMS2):c.1567T>A (p.Ser523Thr) rs63751132 0.00021
NM_024675.4(PALB2):c.2135C>T (p.Ala712Val) rs141458731 0.00017
NM_000051.4(ATM):c.8560C>T (p.Arg2854Cys) rs201958469 0.00013
NM_000249.4(MLH1):c.626A>G (p.Asn209Ser) rs150478207 0.00012
NM_000051.4(ATM):c.5185G>C (p.Val1729Leu) rs3092907 0.00011
NM_000179.3(MSH6):c.2281A>G (p.Arg761Gly) rs199876321 0.00008
NM_000051.4(ATM):c.610G>A (p.Gly204Arg) rs147915571 0.00006
NM_032043.3(BRIP1):c.3103C>T (p.Arg1035Cys) rs45437094 0.00006
NM_000051.4(ATM):c.8428A>C (p.Lys2810Gln) rs730881325 0.00004
NM_000059.4(BRCA2):c.280C>T (p.Pro94Ser) rs80358531 0.00004
NM_000251.3(MSH2):c.1021C>G (p.Leu341Val) rs748115066 0.00004
NM_032043.3(BRIP1):c.751C>T (p.Arg251Cys) rs752309409 0.00004
NM_000465.4(BARD1):c.1028C>T (p.Thr343Ile) rs201032007 0.00003
NM_000465.4(BARD1):c.568G>A (p.Asp190Asn) rs369561166 0.00003
NM_002485.5(NBN):c.1912T>C (p.Ser638Pro) rs199657566 0.00003
NM_007194.4(CHEK2):c.755G>A (p.Ser252Asn) rs587781379 0.00003
NM_007294.4(BRCA1):c.2123C>A (p.Ser708Tyr) rs80357182 0.00003
NM_000179.3(MSH6):c.3832C>A (p.Pro1278Thr) rs587782109 0.00002
NM_000465.4(BARD1):c.1108C>T (p.Arg370Cys) rs587781596 0.00002
NM_000051.4(ATM):c.4703A>G (p.His1568Arg) rs368830730 0.00001
NM_000051.4(ATM):c.712A>G (p.Ile238Val) rs754275014 0.00001
NM_000059.4(BRCA2):c.1012G>A (p.Ala338Thr) rs80358396 0.00001
NM_000059.4(BRCA2):c.4372C>T (p.His1458Tyr) rs80358672 0.00001
NM_000059.4(BRCA2):c.6443C>A (p.Ser2148Tyr) rs80358880 0.00001
NM_000249.4(MLH1):c.1344G>T (p.Glu448Asp) rs587779952 0.00001
NM_000249.4(MLH1):c.306+3A>G rs267607731 0.00001
NM_000251.3(MSH2):c.2640T>C (p.Gly880=) rs1368565489 0.00001
NM_000251.3(MSH2):c.716A>G (p.Gln239Arg) rs199676483 0.00001
NM_000314.8(PTEN):c.206A>G (p.Asn69Ser) rs786204922 0.00001
NM_000455.5(STK11):c.1174A>G (p.Met392Val) rs565993396 0.00001
NM_004655.4(AXIN2):c.1583A>G (p.Lys528Arg) rs878854722 0.00001
NM_007194.4(CHEK2):c.409C>T (p.Arg137Ter) rs730881701 0.00001
NM_024675.4(PALB2):c.1123C>A (p.Leu375Ile) rs373298267 0.00001
NM_032043.3(BRIP1):c.299T>C (p.Met100Thr) rs587782427 0.00001
NM_058216.3(RAD51C):c.1096C>T (p.Arg366Trp) rs587782449 0.00001
NM_000059.4(BRCA2):c.1277A>C (p.Lys426Thr) rs1421854019
NM_000059.4(BRCA2):c.5210A>T (p.Asp1737Val) rs587778120
NM_000059.4(BRCA2):c.5798A>G (p.Asn1933Ser) rs878853591
NM_000059.4(BRCA2):c.7976+5G>T rs786201180
NM_000059.4(BRCA2):c.8825C>A (p.Ala2942Asp) rs373227180
NM_000059.4(BRCA2):c.9156G>A (p.Arg3052=)
NM_000059.4(BRCA2):c.9648+1G>A rs730881573
NM_000143.4(FH):c.1237-50TC[20] rs144131869
NM_000143.4(FH):c.1237-50TC[21] rs144131869
NM_000179.3(MSH6):c.2927G>A (p.Arg976His) rs63751113
NM_000179.3(MSH6):c.3259C>G (p.Pro1087Ala) rs63750998
NM_000465.4(BARD1):c.389A>C (p.Lys130Thr) rs1174079177
NM_000535.7(PMS2):c.2533C>G (p.His845Asp) rs1781489538
NM_002485.5(NBN):c.1202C>G (p.Pro401Arg) rs104895033
NM_004360.5(CDH1):c.2296-3A>G rs113067020
NM_007294.4(BRCA1):c.5036T>C (p.Leu1679Pro) rs760038328
NM_007294.4(BRCA1):c.5202T>G (p.Phe1734Leu) rs869320780
NM_032043.3(BRIP1):c.1702_1703del (p.Asn568fs) rs1057519365
NM_032043.3(BRIP1):c.477_481del (p.Lys159fs) rs1555616143

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