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
151 16 3 38 0 1 11 47

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 risk factor
pathogenic 3 9 2 0 1 0
likely pathogenic 29 0 7 2 1 1

Submitter to submitter summary #

Total submitters: 49
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
OMIM 0 14 0 14 0 0 0 14
Invitae 0 7 0 10 0 0 2 12
Baylor Genetics 0 7 0 4 0 0 3 7
GeneReviews 0 3 3 3 0 0 0 6
Illumina Clinical Services Laboratory,Illumina 0 0 0 3 0 0 3 6
Genetic Services Laboratory, University of Chicago 0 1 0 5 0 0 0 5
Mendelics 0 1 0 2 0 0 3 5
Integrated Genetics/Laboratory Corporation of America 0 1 0 3 0 0 0 3
Fulgent Genetics,Fulgent Genetics 0 0 0 3 0 0 0 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 3 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 0 2 0 2 0 0 1 3
Centogene AG - the Rare Disease Company 0 1 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
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
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 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
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 1 0 0 0 1
Natera, Inc. 0 0 0 1 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 0 0 1 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 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
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 for Mendelian Genomics,University Medical Centre Ljubljana 0 0 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 2 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 0 0 0 1 1
TIDEX, University of British Columbia 0 0 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 0 0 0 0 1 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,VU University Medical Center Amsterdam 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 1 0 1 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 0 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 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
Myriad Women's Health, Inc. 0 0 0 1 0 0 0 1
Autoinflammatory diseases unit,CHU de Montpellier 0 0 0 1 0 0 0 1
Clinical Genomics Program, Stanford Medicine 0 0 0 0 0 0 1 1
LifeCell International Pvt. Ltd 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 47
Download table as spreadsheet
HGVS dbSNP
NM_000089.4(COL1A2):c.3034G>A (p.Gly1012Ser) rs72659319
NM_000132.3(F8):c.3169G>A (p.Glu1057Lys) rs28933673
NM_000170.2(GLDC):c.1742C>G (p.Pro581Arg) rs772871471
NM_000206.2(IL2RG):c.455T>C (p.Val152Ala) rs193922348
NM_000267.3(NF1):c.7846C>T (p.Arg2616Ter) rs786201367
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868
NM_000435.3(NOTCH3):c.3691C>T (p.Arg1231Cys) rs201680145
NM_000546.6(TP53):c.473G>A (p.Arg158His) rs587782144
NM_000834.4(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_001065.4(TNFRSF1A):c.362G>A (p.Arg121Gln) rs4149584
NM_001069.3(TUBB2A):c.1033A>T (p.Ile345Phe) rs797046074
NM_001083116.3(PRF1):c.1337A>C (p.Gln446Pro) rs751161742
NM_001083962.2(TCF4):c.1965dup (p.Gly656fs) rs797046035
NM_001111.5(ADAR):c.3019G>A (p.Gly1007Arg) rs398122822
NM_001130823.3(DNMT1):c.1532A>G (p.Tyr511Cys) rs199473690
NM_001134831.2(AHI1):c.3257A>G (p.Glu1086Gly) rs148000791
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln) rs121912707
NM_001278431.2(C1QTNF5):c.489C>G (p.Ser163Arg) rs111033578
NM_001330260.2(SCN8A):c.2549G>A (p.Arg850Gln)
NM_001347721.2(DYRK1A):c.707T>G (p.Leu236Arg) rs797044525
NM_001365276.2(TNXB):c.6074A>T (p.Asp2025Val) rs201397168
NM_001849.3(COL6A2):c.2096G>A (p.Gly699Asp) rs863224861
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) rs28933386
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224
NM_004006.2(DMD):c.4000G>T (p.Gly1334Ter) rs146880270
NM_006087.4(TUBB4A):c.763G>A (p.Val255Ile) rs767399782
NM_006218.4(PIK3CA):c.2740G>A (p.Gly914Arg) rs587776932
NM_006662.3(SRCAP):c.7303C>T (p.Arg2435Ter) rs199469465
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) rs267607048
NM_012452.2(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412
NM_014249.4(NR2E3):c.166G>A (p.Gly56Arg) rs121912631
NM_014946.3(SPAST):c.1625A>G (p.Asp542Gly) rs142053576
NM_014946.3(SPAST):c.1685G>A (p.Arg562Gln) rs863224923
NM_018249.6(CDK5RAP2):c.4441C>T (p.Arg1481Ter) rs587783390
NM_018941.3(CLN8):c.610C>T (p.Arg204Cys) rs104894060
NM_020822.3(KCNT1):c.1421G>A (p.Arg474His)
NM_021140.3(KDM6A):c.3835C>T (p.Arg1279Ter) rs863224886
NM_021971.4(GMPPB):c.553C>T (p.Arg185Cys) rs397509425
NM_022455.4(NSD1):c.5304-1G>C rs863224905
NM_022915.4(MRPL44):c.467T>G (p.Leu156Arg) rs143697995
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933
NM_053025.4(MYLK):c.2149G>T (p.Asp717Tyr) rs150936840
NM_144997.7(FLCN):c.1285del (p.His429fs) rs80338682
NM_198056.2(SCN5A):c.5129C>T (p.Ser1710Leu) rs137854604
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902

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