ClinVar Miner

Variants from Center of Genomic medicine, Geneva,University Hospital of Geneva with conflicting interpretations

Location: Switzerland — Primary collection method: clinical testing
Minimum review status of the submission from Center of Genomic medicine, Geneva,University Hospital of Geneva: Collection method of the submission from Center of Genomic medicine, Geneva,University Hospital of Geneva:
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
221 80 5 27 1 1 11 42

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
Center of Genomic medicine, Geneva,University Hospital of Geneva pathogenic likely pathogenic uncertain significance likely benign
pathogenic 5 17 3 0
likely pathogenic 10 0 3 0
uncertain significance 1 4 0 1
risk factor 1 1 1 0

Submitter to submitter summary #

Total submitters: 36
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 32 0 2 0 1 7 10
Counsyl 0 6 0 3 0 0 1 4
GeneReviews 0 8 3 0 0 0 1 4
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 0 0 4 0 0 0 4
OMIM 0 29 0 2 0 1 0 3
Baylor Genetics 0 9 0 2 0 1 0 3
Integrated Genetics/Laboratory Corporation of America 0 6 0 3 0 0 0 3
Center for Human Genetics, Inc,Center for Human Genetics, Inc 0 7 0 1 0 0 1 2
GeneDx 0 5 0 0 1 0 1 2
Institute of Medical Molecular Genetics, University of Zurich 0 0 0 2 0 0 0 2
Blueprint Genetics 0 2 0 2 0 0 0 2
Institute of Human Genetics, Klinikum rechts der Isar 0 4 0 2 0 0 0 2
Research and Development, ARUP Laboratories 0 1 2 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 1 0 2 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 5 0 1 0 0 0 1
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 0 0 0 1 0 0 0 1
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 2 0 0 1 0 0 1
Fulgent Genetics,Fulgent Genetics 0 1 0 1 0 0 0 1
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 0 0 1 0 0 0 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 4 0 1 0 0 0 1
Familial Cancer Clinic,Veneto Institute of Oncology 0 0 0 1 0 0 0 1
Illumina Clinical Services Laboratory,Illumina 0 3 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 1 0 1
CSER _CC_NCGL, University of Washington 0 0 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 0 0 1 0 1
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 1 0 1 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 6 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 7 0 1 0 0 0 1
Human Genomics Unit,Institute for molecular medicine Finland (FIMM) 0 0 0 0 0 0 1 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 3 0 1 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 0 0 1 0 0 0 1
Genatak 0 0 0 1 0 0 0 1
Clinical Genomics Program, Stanford Medicine 0 1 0 0 0 1 0 1
Godley laboratory, The University of Chicago 0 0 0 1 0 0 0 1
Molecular Biology Laboratory, Fundació Puigvert 0 3 0 1 0 0 0 1
Precision Medicine Center,Zhengzhou University 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 42
Download table as spreadsheet
HGVS dbSNP
NM_000020.3(ACVRL1):c.1010T>C (p.Leu337Pro) rs1592224349
NM_000051.3(ATM):c.2455T>C (p.Cys819Arg) rs775644968
NM_000091.4(COL4A3):c.2657-1G>T rs373324875
NM_000091.5(COL4A3):c.2371C>T rs1060499654
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr) rs727503054
NM_000256.3(MYBPC3):c.1505G>A (p.Arg502Gln) rs397515907
NM_000256.3(MYBPC3):c.2864_2865del (p.Pro955fs) rs397515990
NM_000256.3(MYBPC3):c.3330+2T>G rs387906397
NM_000256.3(MYBPC3):c.3697C>T (p.Gln1233Ter) rs397516037
NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys) rs397516074
NM_000257.4(MYH7):c.1988G>A (p.Arg663His) rs371898076
NM_000257.4(MYH7):c.2539_2541del (p.Lys847del) rs397516155
NM_000267.3(NF1):c.2798T>C (p.Leu933Pro) rs1555614342
NM_000267.3(NF1):c.3250C>A (p.Pro1084Thr) rs1555614848
NM_000267.3(NF1):c.4180A>C (p.Asn1394His) rs1555618518
NM_000350.3(ABCA4):c.1621_1622del (p.Leu541fs) rs1553192715
NM_000430.4(PAFAH1B1):c.162dup (p.Trp55fs) rs113994198
NM_000444.6(PHEX):c.1735G>A (p.Gly579Arg) rs875989883
NM_000495.5(COL4A5):c.2288G>A (p.Gly763Glu) rs281874689
NM_000901.5(NR3C2):c.2017C>T (p.Arg673Ter) rs121912571
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) rs28934906
NM_001127644.2(GABRA1):c.641G>A (p.Arg214His) rs886039373
NM_001163817.2(DHCR7):c.1328G>A (p.Arg443His) rs781687341
NM_001163817.2(DHCR7):c.89G>C (p.Gly30Ala) rs200334114
NM_001193304.3(TMEM127):c.117_120del (p.Ile41fs) rs121908816
NM_001281463.1(SMC1A):c.58A>G (p.Met20Val) rs1556891104
NM_002775.5(HTRA1):c.854C>T (p.Pro285Leu) rs587776446
NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys) rs121918456
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) rs28933386
NM_003119.2(SPG7):c.1529C>T rs61755320
NM_006005.3(WFS1):c.2603G>A (p.Arg868His) rs56393026
NM_012452.2(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412
NM_014915.2(ANKRD26):c.-126T>C rs1589393792
NM_015560.2(OPA1):c.2708_2711delTTAG rs80356530
NM_017775.4(TTC19):c.554T>C (p.Leu185Pro) rs1187416161
NM_017890.4(VPS13B):c.10156dup (p.Thr3386fs) rs386834055
NM_033380.3(COL4A5):c.2605G>A (p.Gly869Arg) rs104886189
NM_057166.5(COL6A3):c.4147C>T (p.Arg1383Trp) rs146546544
NM_138694.4(PKHD1):c.10036_10045del (p.Cys3346fs) rs1554216571
NM_152754.2(SEMA3D):c.1272C>A (p.His424Gln) rs141893504
NM_170707.4(LMNA):c.1129C>T (p.Arg377Cys) rs397517889
NM_206937.2(LIG4):c.2440C>T (p.Arg814Ter) rs104894419

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