ClinVar Miner

Variants from Center for Personalized Medicine, Children's Hospital Los Angeles with conflicting interpretations

Location: United States  Primary collection method: clinical testing
Minimum review status of the submission from Center for Personalized Medicine, Children's Hospital Los Angeles: Collection method of the submission from Center for Personalized Medicine, Children's Hospital Los Angeles:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:

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
93 76 0 30 24 1 23 72

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 for Personalized Medicine, Children's Hospital Los Angeles pathogenic likely pathogenic uncertain significance likely benign benign drug response
pathogenic 0 13 2 1 1 1
likely pathogenic 17 0 10 1 0 0
uncertain significance 7 4 0 21 6 0

Submitter to submitter summary #

Total submitters: 45
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 69 0 14 8 0 10 32
Labcorp Genetics (formerly Invitae), Labcorp 0 30 0 8 12 0 2 22
CeGaT Center for Human Genetics Tuebingen 0 29 0 5 9 0 6 20
PreventionGenetics, part of Exact Sciences 0 32 0 2 9 0 4 15
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 7 0 1 2 0 4 7
Mayo Clinic Laboratories, Mayo Clinic 0 14 0 2 0 0 3 5
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 15 0 1 2 0 1 4
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 6 0 2 2 0 0 4
Dasa 0 8 0 3 0 0 1 4
Eurofins Ntd Llc (ga) 0 23 0 2 0 0 2 4
Genetic Services Laboratory, University of Chicago 0 8 0 1 1 0 2 4
AiLife Diagnostics, AiLife Diagnostics 0 4 0 1 0 0 2 3
Ambry Genetics 0 6 0 1 1 0 1 3
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 2 0 1 1 0 1 3
Blueprint Genetics 0 4 0 2 0 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 10 0 0 1 0 1 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 6 0 0 1 0 1 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 6 0 2 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 5 0 0 1 0 1 2
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 5 0 1 1 0 0 2
OMIM 0 3 0 0 0 0 2 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 3 0 1 0 0 1 2
Revvity Omics, Revvity 0 15 0 1 0 0 1 2
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 2 0 1 0 0 1 2
All of Us Research Program, National Institutes of Health 0 3 0 0 0 0 1 1
Breakthrough Genomics, Breakthrough Genomics 0 6 0 0 1 0 0 1
CSER _CC_NCGL, University of Washington 0 0 0 0 0 0 1 1
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 2 0 0 0 0 1 1
ClinPGx 0 0 0 0 0 1 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 3 0 1 0 0 0 1
Clinical Genetics, Academic Medical Center 0 2 0 0 0 0 1 1
Color Diagnostics, LLC DBA Color Health 0 1 0 0 0 0 1 1
Department of Genetics, Reproduction and Fetal Medicine., Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío/CSIC/University of Seville. 0 0 0 0 0 0 1 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 6 0 0 0 0 1 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 3 0 0 0 0 1 1
Genome-Nilou Lab 0 0 0 1 0 0 0 1
Gharavi Laboratory, Columbia University 0 1 0 1 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 3 0 1 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 0 0 0 0 0 0 1 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 0 0 1 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 10 0 0 0 0 1 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 1 0 1 0 0 0 1
Mendelics 0 1 0 0 0 0 1 1
Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking C/o Practice Pomarino 0 0 0 1 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 6 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 72
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003737.4(DCHS1):c.379G>A (p.Val127Ile) rs112402535 0.00518
NM_000371.4(TTR):c.424G>A (p.Val142Ile) rs76992529 0.00475
NM_000110.4(DPYD):c.1905+1G>A rs3918290 0.00474
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00391
NM_001089.3(ABCA3):c.875A>T (p.Glu292Val) rs149989682 0.00293
NM_001199397.3(NEK1):c.1021G>A (p.Ala341Thr) rs189186475 0.00227
NM_001377.3(DYNC2H1):c.3682C>A (p.Leu1228Ile) rs189806840 0.00178
NM_001807.6(CEL):c.1966G>C (p.Ala656Pro) rs587780309 0.00172
NM_000243.3(MEFV):c.986G>A (p.Arg329His) rs104895112 0.00133
NM_001038.6(SCNN1A):c.1427G>A (p.Arg476Gln) rs72657556 0.00116
NM_000338.3(SLC12A1):c.2255C>T (p.Ala752Val) rs137893258 0.00104
NM_000261.2(MYOC):c.1102C>T (p.Gln368Ter) rs74315329 0.00086
NM_017636.4(TRPM4):c.1376G>A (p.Arg459His) rs142312281 0.00086
NM_016239.4(MYO15A):c.1454T>C (p.Val485Ala) rs200532919 0.00079
NM_000379.4(XDH):c.3647C>A (p.Pro1216His) rs143981573 0.00077
NM_001291303.3(FAT4):c.11693C>T (p.Ala3898Val) rs138275098 0.00054
NM_001277115.2(DNAH11):c.10472G>A (p.Arg3491His) rs370932895 0.00048
NM_003737.4(DCHS1):c.1679C>T (p.Ser560Phe) rs143753116 0.00020
NM_001083614.2(EARS2):c.322C>T (p.Arg108Trp) rs376103091 0.00019
NM_001204.7(BMPR2):c.545G>A (p.Gly182Asp) rs137852754 0.00016
NM_003737.4(DCHS1):c.877G>A (p.Glu293Lys) rs140867718 0.00016
NM_001199397.3(NEK1):c.859C>G (p.Pro287Ala) rs35222922 0.00012
NM_001370259.2(MEN1):c.1618C>T (p.Pro540Ser) rs745404679 0.00012
NM_006567.5(FARS2):c.1082C>T (p.Pro361Leu) rs751459058 0.00011
NM_001083614.2(EARS2):c.1547G>A (p.Arg516Gln) rs201727231 0.00009
NM_000094.4(COL7A1):c.6501G>A (p.Pro2167=) rs767539005 0.00006
NM_000249.4(MLH1):c.191A>G (p.Asn64Ser) rs63750952 0.00003
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr) rs3218716 0.00003
NM_001012339.3(DNAJC21):c.544C>T (p.Arg182Ter) rs771063992 0.00003
NM_001127222.2(CACNA1A):c.6125C>T (p.Thr2042Met) rs563345694 0.00003
NM_001382391.1(CSPP1):c.3296A>G (p.Glu1099Gly) rs201629827 0.00003
NM_004004.6(GJB2):c.488T>C (p.Met163Thr) rs1273330603 0.00003
NM_006757.4(TNNT3):c.667C>T (p.Arg223Cys) rs367658497 0.00003
NM_019026.6(TMCO1):c.463C>T (p.Arg155Ter) rs765379963 0.00002
NM_000213.5(ITGB4):c.182G>A (p.Cys61Tyr) rs80338755 0.00001
NM_000218.3(KCNQ1):c.1085A>G (p.Lys362Arg) rs12720458 0.00001
NM_000540.3(RYR1):c.8290G>A (p.Glu2764Lys) rs193922829 0.00001
NM_000546.6(TP53):c.844C>T (p.Arg282Trp) rs28934574 0.00001
NM_001031689.3(PLAA):c.1487-1G>A rs1426488816 0.00001
NM_001134831.2(AHI1):c.2299G>T (p.Val767Leu) rs755688765 0.00001
NM_001165963.4(SCN1A):c.5291T>A (p.Phe1764Tyr) rs796053037 0.00001
NM_001286577.2(C2CD3):c.917T>C (p.Leu306Pro) rs762278054 0.00001
NM_002693.3(POLG):c.3242G>A (p.Arg1081Gln) rs140079523 0.00001
NM_004371.4(COPA):c.698G>A (p.Arg233His) rs794727993 0.00001
NM_006005.3(WFS1):c.1999C>T (p.Gln667Ter) rs771409809 0.00001
NM_015909.4(NBAS):c.5547del (p.Trp1850fs) rs1478754689 0.00001
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) rs398123009 0.00001
NM_024996.7(GFM1):c.748C>T (p.Arg250Trp) rs139430866 0.00001
NM_032620.4(GTPBP3):c.17G>A (p.Trp6Ter) rs756394857 0.00001
NM_000252.3(MTM1):c.1262G>T (p.Arg421Leu) rs587783772
NM_000527.5(LDLR):c.682G>A (p.Glu228Lys) rs121908029
NM_000540.3(RYR1):c.10097G>T (p.Arg3366Leu) rs137932199
NM_000612.6(IGF2):c.106G>T (p.Glu36Ter) rs2495590055
NM_000702.4(ATP1A2):c.2552A>G (p.Tyr851Cys) rs2524889994
NM_000814.6(GABRB3):c.94G>A (p.Gly32Arg) rs71651682
NM_001127222.2(CACNA1A):c.7266_7271del (p.Ser2423_Gly2424del) rs775428832
NM_001267550.2(TTN):c.101019_101020dup (p.Arg33674fs) rs886041287
NM_001347721.2(DYRK1A):c.638-9_638-5del rs1555984064
NM_001365999.1(SZT2):c.6120_6122del (p.Val2041del) rs746200792
NM_001457.4(FLNB):c.502G>A (p.Gly168Ser) rs80356504
NM_002834.5(PTPN11):c.5C>T (p.Thr2Ile) rs267606990
NM_002872.5(RAC2):c.184G>A (p.Glu62Lys) rs1555908409
NM_003470.3(USP7):c.383+1G>C rs1567227059
NM_004380.3(CREBBP):c.5603G>A (p.Arg1868Gln) rs1567263168
NM_005634.3(SOX3):c.735_737dup (p.Ala248dup) rs398124211
NM_005654.6(NR2F1):c.265T>C (p.Cys89Arg) rs1561523716
NM_006218.4(PIK3CA):c.3143A>G (p.His1048Arg) rs1553826184
NM_007373.4(SHOC2):c.519G>A (p.Met173Ile) rs730881020
NM_017934.7(PHIP):c.919_923del (p.Ile307fs) rs771126523
NM_022455.5(NSD1):c.6173A>G (p.Tyr2058Cys) rs398124380
NM_053025.4(MYLK):c.2149G>A (p.Asp717Asn) rs150936840
NM_130797.4(DPP6):c.157_184del (p.Pro53fs) rs2129062565

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