ClinVar Miner

Variants from CHLA 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 CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles: Collection method of the submission from CHLA 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:
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
74 45 1 17 6 3 8 29

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
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles pathogenic likely pathogenic uncertain significance likely benign drug response risk factor
pathogenic 1 10 2 1 1 0
likely pathogenic 7 0 1 0 0 0
uncertain significance 3 2 0 5 0 2
likely benign 0 0 1 0 0 0

Submitter to submitter summary #

Total submitters: 38
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
Invitae 0 30 0 5 2 0 1 8
GeneDx 0 25 0 2 2 0 2 6
OMIM 0 15 0 1 0 1 2 4
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 17 0 2 1 0 0 3
Ambry Genetics 0 12 0 2 0 0 0 2
Counsyl 0 9 0 2 0 0 0 2
Fulgent Genetics 0 7 0 2 0 0 0 2
Illumina Clinical Services Laboratory,Illumina 0 8 0 1 1 0 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 5 0 1 1 0 0 2
Database of Curated Mutations (DoCM) 0 0 0 2 0 0 0 2
German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne 0 1 0 2 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 12 0 1 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 7 0 0 0 0 1 1
PreventionGenetics 0 2 0 0 1 0 0 1
GeneReviews 0 2 1 0 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 1 0 0 0 1
PharmGKB 0 0 0 0 0 1 0 1
LDLR-LOVD, British Heart Foundation 0 0 0 1 0 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 0 0 1 0 0 1
UCLA Clinical Genomics Center, UCLA 0 0 0 0 0 0 1 1
CSER_CC_NCGL; University of Washington Medical Center 0 2 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
Stanford Center for Inherited Cardiovascular Disease,Stanford University 0 3 0 1 0 0 0 1
GeneKor MSA 0 2 0 1 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 0 0 0 0 1 0 1
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 0 0 1 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab),CHU de Nantes 0 0 0 1 0 0 0 1
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 1 0 1 0 0 0 1
Color 0 5 0 1 0 0 0 1
CeGaT Praxis fuer Humangenetik Tuebingen 0 3 0 0 0 0 1 1
Robarts Research Institute,Western University 0 0 0 1 0 0 0 1
Molecular Genetics Laboratory,Centre for Cardiovascular Surgery and Transplantation 0 0 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 1 0 0 0 1
Dan Cohn Lab,University Of California Los Angeles 0 0 0 0 0 0 1 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 0 0 0 1 1
Laboratory of Molecular Neuropathology,The University of Texas Health Science Center at Houston 0 0 0 0 0 0 1 1
Gharavi Laboratory,Columbia University 0 1 0 1 0 0 0 1
Johns Hopkins Genomics,Johns Hopkins University 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 29
Download table as spreadsheet
HGVS dbSNP
NM_000110.3(DPYD):c.1905+1G>A rs3918290
NM_000218.2(KCNQ1):c.1085A>G (p.Lys362Arg) rs12720458
NM_000243.2(MEFV):c.2080A>G (p.Met694Val) rs61752717
NM_000249.3(MLH1):c.191A>G (p.Asn64Ser) rs63750952
NM_000257.3(MYH7):c.2389G>A (p.Ala797Thr) rs3218716
NM_000261.1(MYOC):c.1102C>T (p.Gln368Ter) rs74315329
NM_000478.5(ALPL):c.46_49delAACT (p.Asn16Profs) rs1057516230
NM_000527.4(LDLR):c.682G>A (p.Glu228Lys) rs121908029
NM_000546.5(TP53):c.742C>T (p.Arg248Trp) rs121912651
NM_000546.5(TP53):c.844C>T (p.Arg282Trp) rs28934574
NM_000814.6(GABRB3):c.94G>A (p.Gly32Arg) rs71651682
NM_001080463.1(DYNC2H1):c.3682C>A (p.Leu1228Ile) rs189806840
NM_001089.3(ABCA3):c.875A>T (p.Glu292Val) rs149989682
NM_001204.6(BMPR2):c.545G>A (p.Gly182Asp) rs137852754
NM_001256850.1(TTN):c.96096_96097dupCA (p.Arg32033Thrfs) rs886041287
NM_002872.4(RAC2):c.184G>A (p.Glu62Lys) rs1555908409
NM_004004.5(GJB2):c.488T>C (p.Met163Thr) rs1273330603
NM_004380.2(CREBBP):c.5603G>A (p.Arg1868Gln)
NM_006920.5(SCN1A):c.4789G>T (p.Asp1597Tyr) rs121917915
NM_007194.3(CHEK2):c.1100delC (p.Thr367Metfs) rs555607708
NM_012224.2(NEK1):c.1021G>A (p.Ala341Thr) rs189186475
NM_012452.2(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412
NM_016239.3(MYO15A):c.1454T>C (p.Val485Ala) rs200532919
NM_017651.4(AHI1):c.2299G>T (p.Val767Leu) rs755688765
NM_018026.3(PACS1):c.607C>T (p.Arg203Trp) rs398123009
NM_019892.4(INPP5E):c.1132C>T (p.Arg378Cys) rs121918130
NM_024790.6(CSPP1):c.3281A>G (p.Glu1094Gly) rs201629827
NM_138694.3(PKHD1):c.1480C>T (p.Arg494Ter) rs754392766
NM_206933.2(USH2A):c.2299delG (p.Glu767Serfs) rs80338903

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