ClinVar Miner

Variants from Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center with conflicting interpretations

Location: United States — Primary collection method: clinical testing
Minimum review status of the submission from Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center: Collection method of the submission from Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center:
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
157 75 0 16 11 4 8 37

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
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center pathogenic likely pathogenic uncertain significance likely benign benign drug response protective risk factor other
pathogenic 0 5 0 0 0 1 1 0 0
likely pathogenic 8 0 2 1 0 0 0 1 0
uncertain significance 2 4 0 9 4 0 0 0 1
likely benign 0 0 0 0 1 0 0 0 0
benign 0 0 0 2 0 0 0 0 0

Submitter to submitter summary #

Total submitters: 25
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
GeneDx 0 56 0 6 8 1 3 18
Integrated Genetics/Laboratory Corporation of America 0 8 0 0 6 0 2 8
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 18 0 1 4 0 0 5
OMIM 0 2 0 1 0 2 1 4
PreventionGenetics, PreventionGenetics 0 18 0 0 2 0 2 4
CeGaT Praxis fuer Humangenetik Tuebingen 0 15 0 2 1 0 1 4
Invitae 0 7 0 1 1 0 1 3
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 34 0 0 1 1 1 3
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 9 0 1 1 0 1 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 11 0 2 0 0 1 3
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 27 0 0 1 0 1 2
Quest Diagnostics Nichols Institute San Juan Capistrano 0 2 0 1 0 0 1 2
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 0 0 0 0 0 1 1
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 0 10 0 1 0 0 0 1
Ambry Genetics 0 7 0 0 1 0 0 1
PharmGKB 0 0 0 0 0 1 0 1
Illumina Clinical Services Laboratory,Illumina 0 0 0 1 0 0 0 1
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 0 0 0 1 0 0 0 1
Laboratory of Molecular Genetics,CHU RENNES 0 0 0 1 0 0 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris 0 0 0 1 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 1 0 0 0 0 1 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 0 1 1
University of Washington Department of Laboratory Medicine, University of Washington 0 1 0 0 0 1 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 0 0 0 0 0 1 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 37
Download table as spreadsheet
HGVS dbSNP
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155
NM_000540.3(RYR1):c.7300G>A (p.Gly2434Arg) rs121918593
NM_001008216.2(GALE):c.956G>A (p.Gly319Glu) rs28940885
NM_001083962.2(TCF4):c.1738C>T (p.Arg580Trp) rs121909120
NM_001303.4(COX10):c.624+4A>G rs199668725
NM_001354689.3(RAF1):c.1173T>C (p.Asp391=) rs146668293
NM_001354689.3(RAF1):c.1689G>C (p.Thr563=) rs5746244
NM_001363118.2(SLC52A2):c.1122C>T (p.Leu374=) rs144290224
NM_001367534.1(CAMK2G):c.875G>C (p.Arg292Pro) rs397514627
NM_001374258.1(BRAF):c.-19C>T rs71645935
NM_001374258.1(BRAF):c.111G>A (p.Ser37=) rs727502906
NM_001374258.1(BRAF):c.1553-19A>G rs369635503
NM_002225.5(IVD):c.464GTG[3] (p.Gly156dup) rs796051982
NM_002381.5(MATN3):c.653A>G (p.Tyr218Cys)
NM_002491.3(NDUFB3):c.64T>C (p.Trp22Arg) rs142609245
NM_002524.5(NRAS):c.225C>T (p.Gly75=) rs142739534
NM_002755.3(MAP2K1):c.693+10G>A rs377034924
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met) rs121918457
NM_002834.5(PTPN11):c.1658C>T (p.Thr553Met) rs148176616
NM_002834.5(PTPN11):c.178G>A (p.Gly60Ser) rs397507507
NM_002834.5(PTPN11):c.767A>G (p.Gln256Arg) rs397507523
NM_002834.5(PTPN11):c.781C>T (p.Leu261Phe) rs397507525
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln) rs376607329
NM_004187.5(KDM5C):c.2041C>T (p.Arg681Ter)
NM_005633.3(SOS1):c.1074+5G>C rs145155424
NM_005633.3(SOS1):c.1230G>A (p.Gln410=) rs141390073
NM_005633.3(SOS1):c.1668A>C (p.Val556=) rs376314461
NM_005633.3(SOS1):c.749T>C (p.Val250Ala) rs139290271
NM_007194.4(CHEK2):c.480AGA[1] (p.Glu161del) rs587782008
NM_012199.5(AGO1):c.536TCT[1] (p.Phe180del) rs1553154062
NM_015001.3(SPEN):c.5806C>T (p.Arg1936Ter)
NM_017775.4(TTC19):c.1A>G (p.Met1Val) rs749196122
NM_018075.5(ANO10):c.132dup (p.Asp45fs) rs540331226
NM_020987.5(ANK3):c.4365_4368del (p.Arg1456fs)
NM_058216.3(RAD51C):c.577C>T (p.Arg193Ter) rs200293302
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944
NM_172107.4(KCNQ2):c.1004C>T (p.Pro335Leu) rs796052641

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.