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 Variants with at least 2 submissions 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 kind of conflict
134 19 6 45 0 2 17 61

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 other
pathogenic 6 8 3 1 2 0 0
likely pathogenic 37 0 12 4 1 1 1

Submitter to submitter summary #

Total submitters: 47
Download table as spreadsheet
Submitter Variants with only 1 submission Variants with at least 2 submissions 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 kind of conflict
GeneDx 0 16 0 20 0 0 6 26
OMIM 0 17 0 17 0 1 0 18
Invitae 0 13 0 8 0 0 4 12
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 4 0 8 0 0 3 11
GeneReviews 0 2 6 5 0 0 0 11
Fulgent Genetics 0 8 0 10 0 0 0 10
Genetic Services Laboratory, University of Chicago 0 1 0 8 0 0 1 9
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 4 0 6 0 0 3 9
Ambry Genetics 0 12 0 6 0 0 2 8
Illumina Clinical Services Laboratory,Illumina 0 1 0 5 0 0 3 8
Baylor Miraca Genetics Laboratories, 0 5 0 4 0 0 2 6
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 3 0 5 0 0 1 6
Integrated Genetics/Laboratory Corporation of America 0 4 0 4 0 0 1 5
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 1 0 1 0 0 3 4
Athena Diagnostics Inc 0 2 0 2 0 0 1 3
Counsyl 0 2 0 3 0 0 0 3
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 1 0 1 0 0 1 2
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 0 0 0 2 0 0 0 2
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 0 2 0 0 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 1 0 1 0 1 0 2
Laboratory of Molecular Genetics (Pr. Bezieau's lab),CHU de Nantes 0 1 0 2 0 0 0 2
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 0 1 0 0 1 2
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
PreventionGenetics 0 0 0 0 0 0 1 1
FirmaLab 0 0 0 1 0 0 0 1
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 1 0 0 0 1
Blueprint Genetics, 0 1 0 1 0 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 1 0 1 0 0 0 1
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg 0 0 0 1 0 0 0 1
Department of Ophthalmology and Visual Sciences Kyoto University 0 0 0 0 0 0 1 1
HudsonAlpha Institute for Biotechnology 0 0 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 0 0 0 0 0 0 1 1
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 0 0 1 0 0 0 1
Rui Chen Lab,Baylor College of Medicine 0 0 0 1 0 0 0 1
Color 0 0 0 1 0 0 0 1
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 0 0 0 0 1 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
Department of Medical Sciences,Uppsala University 0 0 0 1 0 0 0 1
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 0 0 0 0 0 0 1 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 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 2 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

All variants with conflicting interpretations #

Total variants: 61
Download table as spreadsheet
HGVS dbSNP
NM_000044.4(AR):c.1174C>T (p.Pro392Ser) rs201934623
NM_000089.3(COL1A2):c.2957C>T (p.Pro986Leu) rs768171831
NM_000089.3(COL1A2):c.3034G>A (p.Gly1012Ser) rs72659319
NM_000132.3(F8):c.3169G>A (p.Glu1057Lys) rs28933673
NM_000206.2(IL2RG):c.455T>C (p.Val152Ala) rs193922348
NM_000314.6(PTEN):c.860C>G (p.Ser287Ter) rs863224909
NM_000335.4(SCN5A):c.5126C>T (p.Ser1709Leu) rs137854604
NM_000363.4(TNNI3):c.508C>G (p.Arg170Gly) rs727503504
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868
NM_000435.2(NOTCH3):c.3691C>T (p.Arg1231Cys) rs201680145
NM_000489.4(ATRX):c.568C>G (p.Pro190Ala) rs122445103
NM_000530.7(MPZ):c.499G>C (p.Gly167Arg) rs121913586
NM_000546.5(TP53):c.473G>A (p.Arg158His) rs587782144
NM_001042492.2(NF1):c.7909C>T (p.Arg2637Ter) rs786201367
NM_001065.3(TNFRSF1A):c.362G>A (p.Arg121Gln) rs4149584
NM_001069.2(TUBB2A):c.1033A>T (p.Ile345Phe) rs797046074
NM_001083962.1(TCF4):c.1965dupC (p.Gly656Argfs) rs797046035
NM_001111.5(ADAR):c.3019G>A (p.Gly1007Arg) rs398122822
NM_001130823.1(DNMT1):c.1532A>G (p.Tyr511Cys) rs199473690
NM_001182.4(ALDH7A1):c.1279G>C (p.Glu427Gln) rs121912707
NM_001396.3(DYRK1A):c.734T>G (p.Leu245Arg) rs797044525
NM_001396.3(DYRK1A):c.883C>T (p.Leu295Phe) rs797044526
NM_001849.3(COL6A2):c.2096G>A (p.Gly699Asp) rs863224861
NM_002242.4(KCNJ13):c.458C>T (p.Thr153Ile) rs863224884
NM_002834.4(PTPN11):c.174C>G (p.Asn58Lys) rs397507506
NM_002834.4(PTPN11):c.922A>G (p.Asn308Asp) rs28933386
NM_003002.3(SDHD):c.242C>T (p.Pro81Leu) rs80338844
NM_003201.2(TFAM):c.533C>T (p.Pro178Leu) rs757075712
NM_003242.5(TGFBR2):c.1408T>G (p.Tyr470Asp) rs863224935
NM_003560.3(PLA2G6):c.1117G>A (p.Gly373Arg) rs587784327
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224
NM_004006.2(DMD):c.4000G>T (p.Gly1334Ter) rs146880270
NM_005120.2(MED12):c.1849A>G (p.Thr617Ala) rs765417606
NM_006009.3(TUBA1A):c.352G>A (p.Val118Met) rs863224938
NM_006087.3(TUBB4A):c.763G>A (p.Val255Ile) rs767399782
NM_006218.3(PIK3CA):c.2740G>A (p.Gly914Arg) rs587776932
NM_006662.2(SRCAP):c.7303C>T (p.Arg2435Ter) rs199469465
NM_007126.3(VCP):c.463C>G (p.Arg155Gly) rs121909330
NM_007373.3(SHOC2):c.4A>G (p.Ser2Gly) rs267607048
NM_012452.2(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412
NM_013334.3(GMPPB):c.553C>T (p.Arg185Cys) rs397509425
NM_014191.3(SCN8A):c.2549G>A (p.Arg850Gln) rs587780586
NM_014249.3(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_015560.2(OPA1):c.2131C>T (p.Arg711Ter) rs863224906
NM_015645.4(C1QTNF5):c.489C>G (p.Ser163Arg) rs111033578
NM_017651.4(AHI1):c.3257A>G (p.Glu1086Gly) rs148000791
NM_018249.5(CDK5RAP2):c.4441C>T (p.Arg1481Ter) rs587783390
NM_018941.3(CLN8):c.610C>T (p.Arg204Cys) rs104894060
NM_021007.2(SCN2A):c.2558G>A (p.Arg853Gln) rs794727152
NM_021007.2(SCN2A):c.2960G>T (p.Ser987Ile) rs796053124
NM_021007.2(SCN2A):c.3631G>A (p.Glu1211Lys) rs387906684
NM_022455.4(NSD1):c.5304-1G>C rs863224905
NM_022915.3(MRPL44):c.467T>G (p.Leu156Arg) rs143697995
NM_024577.3(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933
NM_030662.3(MAP2K2):c.181A>G (p.Lys61Glu) rs730880517
NM_053025.3(MYLK):c.2149G>T (p.Asp717Tyr) rs150936840
NM_144997.5(FLCN):c.1285delC (p.His429Thrfs) rs80338682
NM_198056.2(SCN5A):c.1567C>T (p.Arg523Cys) rs199473119
NM_206933.2(USH2A):c.2276G>T (p.Cys759Phe) rs80338902

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.