ClinVar Miner

Variants from UCLA Clinical Genomics Center, UCLA with conflicting interpretations

Location: United States  Primary collection method: clinical testing
Minimum review status of the submission from UCLA Clinical Genomics Center, UCLA: Collection method of the submission from UCLA Clinical Genomics Center, UCLA:
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
133 23 0 45 0 1 18 58

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
UCLA Clinical Genomics Center, UCLA pathogenic likely pathogenic uncertain significance likely benign benign established risk allele risk factor
pathogenic 0 10 2 0 1 0 0
likely pathogenic 35 0 14 3 3 1 1

Submitter to submitter summary #

Total submitters: 91
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
Labcorp Genetics (formerly Invitae), Labcorp 0 9 0 13 0 0 7 20
OMIM 0 14 0 16 0 0 0 16
Institute of Human Genetics, University of Leipzig Medical Center 0 6 0 10 0 0 0 10
3billion 0 8 0 10 0 0 0 10
Baylor Genetics 0 8 0 7 0 0 1 8
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 5 0 7 0 0 0 7
Illumina Laboratory Services, Illumina 0 2 0 3 0 0 4 7
MGZ Medical Genetics Center 0 4 0 5 0 0 1 6
Mendelics 0 1 0 3 0 0 3 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 4 0 5 0 0 1 6
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 6 0 4 0 0 2 6
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 5 0 5 0 0 0 5
Genome-Nilou Lab 0 3 0 5 0 0 0 5
Genetic Services Laboratory, University of Chicago 0 1 0 4 0 0 0 4
Revvity Omics, Revvity 0 2 0 2 0 0 2 4
Centogene AG - the Rare Disease Company 0 1 0 4 0 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 0 2 0 4 0 0 0 4
Fulgent Genetics, Fulgent Genetics 0 1 0 3 0 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 0 1 0 1 1 3
Juno Genomics, Hangzhou Juno Genomics, Inc 0 3 0 3 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 2 0 2 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 2 0 1 0 0 1 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 2 0 0 0 2
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 0 0 0 2 0 0 0 2
Counsyl 0 2 0 2 0 0 0 2
Natera, Inc. 0 0 0 2 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 0 2 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 2 0 2 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 4 0 1 0 0 1 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 2 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 0 1 0 0 1 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 2 0 0 0 2
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 0 0 1 0 0 1 2
Johns Hopkins Genomics, Johns Hopkins University 0 0 0 2 0 0 0 2
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 1 0 1 0 0 1 2
Myriad Genetics, Inc. 0 3 0 2 0 0 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 0 1 0 0 1 2
Clinical Genomics Laboratory, Stanford Medicine 0 0 0 1 0 0 1 2
New York Genome Center 0 1 0 2 0 0 0 2
Lifecell International Pvt. Ltd 0 1 0 2 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 0 0 0 1 0 0 1 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 4 0 2 0 0 0 2
Institute of Immunology and Genetics Kaiserslautern 0 2 0 2 0 0 0 2
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 0 0 2 0 0 0 2
Center for Human Genetics, Inc, Center for Human Genetics, Inc 0 2 0 1 0 0 0 1
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 0 0 1 0 0 0 1
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 0 0 1 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 1 0 0 0 0 1 1
Elsea Laboratory, Baylor College of Medicine 0 0 0 1 0 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 1 0 1 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 0 1 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 3 0 1 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 0 1 0 0 0 1
Genetics and Personalized Medicine Clinic, Tartu University Hospital 0 0 0 1 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 1 0 0 0 1 0 1
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 0 0 1 0 0 0 1
Medical Genetics, University of Parma 0 0 0 1 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 2 0 1 0 0 0 1
CeGaT Center for Human Genetics Tuebingen 0 0 0 0 0 0 1 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 0 1 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 3 0 1 0 0 0 1
Bruce Lefroy Centre, Murdoch Childrens Research Institute 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
SIB Swiss Institute of Bioinformatics 0 0 0 1 0 0 0 1
Yale Center for Mendelian Genomics, Yale University 0 0 0 1 0 0 0 1
TIDEX, University of British Columbia 0 0 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 0 0 1 1
ClinGen RASopathy Variant Curation Expert Panel 0 0 0 1 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 0 1 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 2 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 1 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 2 0 1 0 0 0 1
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital 0 0 0 1 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 0 0 0 0 0 0 1 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 0 0 0 0 1 1
Autoinflammatory diseases unit, CHU de Montpellier 0 0 0 1 0 0 0 1
Genomics, Clalit Research Institute, Clalit Health Care 0 0 0 1 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 0 0 0 0 1 1
Suma Genomics 0 0 0 0 0 0 1 1
DASA 0 1 0 1 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 0 1 0 0 0 1
Genomics England Pilot Project, Genomics England 0 2 0 1 0 0 0 1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 0 1 0 1 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 0 0 0 1 0 0 0 1
Dunham Lab, University of Washington 0 0 0 1 0 0 0 1
Inherited Neuropathy Consortium Ii, University Of Miami 0 0 0 0 0 0 1 1
Integrating Genomics into Medicine, Frazer Institute, University Of Queensland 0 0 0 1 0 0 0 1
NHS Central & South Genomic Laboratory Hub 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 58
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001065.4(TNFRSF1A):c.362G>A (p.Arg121Gln) rs4149584 0.01206
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00403
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00354
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902 0.00137
NM_001134831.2(AHI1):c.3257A>G (p.Glu1086Gly) rs148000791 0.00115
NM_000435.3(NOTCH3):c.3691C>T (p.Arg1231Cys) rs201680145 0.00089
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933 0.00067
NM_001365276.2(TNXB):c.6074A>T (p.Asp2025Val) rs201397168 0.00056
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln) rs121912707 0.00024
NM_014946.4(SPAST):c.1625A>G (p.Asp542Gly) rs142053576 0.00024
NM_000132.4(F8):c.3169G>A (p.Glu1057Lys) rs28933673 0.00014
NM_001103146.3(GIGYF2):c.2378C>T (p.Ala793Val) rs748538823 0.00005
NM_000170.3(GLDC):c.1742C>G (p.Pro581Arg) rs772871471 0.00002
NM_001083116.3(PRF1):c.1337A>C (p.Gln446Pro) rs751161742 0.00002
NM_002860.4(ALDH18A1):c.2294G>A (p.Arg765Gln) rs537043237 0.00002
NM_000335.5(SCN5A):c.5126C>T (p.Ser1709Leu) rs137854604 0.00001
NM_000546.6(TP53):c.473G>A (p.Arg158His) rs587782144 0.00001
NM_003119.4(SPG7):c.1729G>A (p.Gly577Ser) rs72547552 0.00001
NM_003201.3(TFAM):c.533C>T (p.Pro178Leu) rs757075712 0.00001
NM_004035.7(ACOX1):c.176G>C (p.Arg59Pro) rs777937235 0.00001
NM_005921.2(MAP3K1):c.770C>T (p.Pro257Leu) rs56160159 0.00001
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) rs267607048 0.00001
NM_014249.4(NR2E3):c.166G>A (p.Gly56Arg) rs121912631 0.00001
NM_014946.4(SPAST):c.1685G>A (p.Arg562Gln) rs863224923 0.00001
NM_018249.6(CDK5RAP2):c.4441C>T (p.Arg1481Ter) rs587783390 0.00001
NM_018389.5(SLC35C1):c.872C>T (p.Thr291Ile) rs751828447 0.00001
NM_018941.4(CLN8):c.610C>T (p.Arg204Cys) rs104894060 0.00001
NM_021971.4(GMPPB):c.553C>T (p.Arg185Cys) rs397509425 0.00001
NM_000133.4(F9):c.835G>A (p.Ala279Thr) rs137852247
NM_000206.3(IL2RG):c.455T>C (p.Val152Ala) rs193922348
NM_000554.6(CRX):c.124G>A (p.Glu42Lys) rs863224863
NM_000834.5(GRIN2B):c.2044C>T (p.Arg682Cys) rs387906636
NM_001040142.2(SCN2A):c.2558G>A (p.Arg853Gln) rs794727152
NM_001040142.2(SCN2A):c.3631G>A (p.Glu1211Lys) rs387906684
NM_001042492.3(NF1):c.7909C>T (p.Arg2637Ter) rs786201367
NM_001069.3(TUBB2A):c.1033A>T (p.Ile345Phe) rs797046074
NM_001069.3(TUBB2A):c.872A>C (p.Gln291Pro) rs863224939
NM_001083962.2(TCF4):c.1965dup (p.Gly656fs) rs797046035
NM_001111.5(ADAR):c.3019G>A (p.Gly1007Arg) rs398122822
NM_001127222.2(CACNA1A):c.904G>A (p.Asp302Asn) rs863224852
NM_001130823.3(DNMT1):c.1532A>G (p.Tyr511Cys) rs199473690
NM_001170629.2(CHD8):c.1744C>T (p.Arg582Ter) rs863224857
NM_001184880.2(PCDH19):c.457_458delinsAT (p.Ala153Ile) rs863224907
NM_001278431.2(C1QTNF5):c.489C>G (p.Ser163Arg) rs111033578
NM_001291415.2(KDM6A):c.3991C>T (p.Arg1331Ter) rs863224886
NM_001330260.2(SCN8A):c.2549G>A (p.Arg850Gln)
NM_001347721.2(DYRK1A):c.707T>G (p.Leu236Arg) rs797044525
NM_001849.4(COL6A2):c.2096G>A (p.Gly699Asp) rs863224861
NM_004006.3(DMD):c.4000G>T (p.Gly1334Ter) rs146880270
NM_006009.4(TUBA1A):c.352G>A (p.Val118Met) rs863224938
NM_006087.4(TUBB4A):c.763G>A (p.Val255Ile) rs767399782
NM_006218.4(PIK3CA):c.2740G>A (p.Gly914Arg) rs587776932
NM_020822.3(KCNT1):c.1421G>A (p.Arg474His)
NM_022455.5(NSD1):c.5304-1G>C rs863224905
NM_022915.5(MRPL44):c.467T>G (p.Leu156Arg) rs143697995
NM_032638.5(GATA2):c.1113C>A (p.Asn371Lys) rs376003468
NM_053025.4(MYLK):c.2149G>T (p.Asp717Tyr) rs150936840

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.