ClinVar Miner

Variants from Laboratory of Molecular Genetics (Pr. Bezieau's lab),CHU de Nantes with conflicting interpretations

Location: France — Primary collection method: clinical testing
Minimum review status of the submission from Laboratory of Molecular Genetics (Pr. Bezieau's lab),CHU de Nantes: Collection method of the submission from Laboratory of Molecular Genetics (Pr. Bezieau's lab),CHU de Nantes:
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
155 46 3 20 0 1 13 34

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
Laboratory of Molecular Genetics (Pr. Bezieau's lab),CHU de Nantes pathogenic likely pathogenic uncertain significance drug response
pathogenic 3 15 10 1
likely pathogenic 5 0 2 0
uncertain significance 1 0 0 0

Submitter to submitter summary #

Total submitters: 26
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 30 0 3 0 0 1 4
Ambry Genetics 0 10 0 1 0 0 3 4
GeneReviews 0 4 3 0 0 0 1 4
Invitae 0 20 0 1 0 0 2 3
SIB Swiss Institute of Bioinformatics 0 0 0 2 0 0 1 3
OMIM 0 36 0 2 0 0 0 2
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 0 1 0 2 0 0 0 2
Counsyl 0 2 0 1 0 0 1 2
UCLA Clinical Genomics Center, UCLA 0 1 0 2 0 0 0 2
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 0 1 0 0 1 2
Baylor Miraca Genetics Laboratories, 0 6 0 0 0 0 1 1
Genetic Services Laboratory, University of Chicago 0 10 0 1 0 0 0 1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 5 0 1 0 0 0 1
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 2 0 0 0 0 1 1
Mendelics 0 0 0 1 0 0 0 1
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 11 0 1 0 0 0 1
Fulgent Genetics 0 8 0 0 0 0 1 1
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 0 0 1 0 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 0 1 0 1 0 0 0 1
PharmGKB 0 0 0 0 0 1 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 1 1
Illumina Clinical Services Laboratory,Illumina 0 3 0 0 0 0 1 1
University of Washington Center for Mendelian Genomics,University of Washington 0 0 0 1 0 0 0 1
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 0 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 1 0 1 0 0 0 1
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 34
Download table as spreadsheet
HGVS dbSNP
NM_000287.3(PEX6):c.659G>T (p.Gly220Val) rs267608203
NM_000288.3(PEX7):c.653C>T (p.Ala218Val) rs121909151
NM_000288.3(PEX7):c.854A>G (p.His285Arg) rs62653611
NM_000540.2(RYR1):c.14582G>A (p.Arg4861His) rs63749869
NM_001005360.2(DNM2):c.1856C>T (p.Ser619Leu) rs121909095
NM_001069.2(TUBB2A):c.728C>T (p.Pro243Leu) rs1554122947
NM_001080517.2(SETD5):c.2644C>T (p.Arg882Ter) rs1553635637
NM_001080522.2(CC2D2A):c.4465_4468delGACA (p.Asp1489Lysfs) rs797045437
NM_001080522.2(CC2D2A):c.4667A>T (p.Asp1556Val) rs201502401
NM_001100913.2(PACS2):c.625G>A (p.Glu209Lys) rs1555408401
NM_001112741.1(KCNC1):c.1262C>T (p.Ala421Val) rs1554991378
NM_001284333.1(TLK2):c.777C>A (p.Tyr259Ter)
NM_001291415.1(KDM6A):c.3614G>A (p.Cys1205Tyr) rs1556350571
NM_001354609.1(BRAF):c.1574T>C (p.Leu525Pro) rs869025340
NM_001605.2(AARS):c.259G>A (p.Asp87Asn) rs763757370
NM_002074.4(GNB1):c.239T>C (p.Ile80Thr) rs752746786
NM_002834.4(PTPN11):c.1493G>T (p.Arg498Leu) rs397507542
NM_003491.3(NAA10):c.247C>T (p.Arg83Cys) rs797044868
NM_004380.2(CREBBP):c.5356C>T (p.Arg1786Cys) rs1555471394
NM_004380.2(CREBBP):c.5603G>A (p.Arg1868Gln)
NM_007373.3(SHOC2):c.4A>G (p.Ser2Gly) rs267607048
NM_014191.3(SCN8A):c.2549G>A (p.Arg850Gln) rs587780586
NM_015981.3(CAMK2A):c.704C>T (p.Pro235Leu) rs864309606
NM_017739.3(POMGNT1):c.1350_1354delCTGGG (p.Trp451Alafs) rs386834015
NM_017946.3(FKBP14):c.362dupC (p.Glu122Argfs) rs542489955
NM_020732.3(ARID1B):c.5394_5397del (p.Phe1798Leufs) rs1554237269
NM_024570.3(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679
NM_024678.6(NARS2):c.151C>T (p.Arg51Cys) rs367584549
NM_030813.5(CLPB):c.1882C>T (p.Arg628Cys) rs150343959
NM_033629.5(TREX1):c.218C>T (p.Pro73Leu) rs755919767
NM_172079.2(CAMK2B):c.416C>T (p.Pro139Leu) rs1554389088
NM_172079.2(CAMK2B):c.85C>T (p.Arg29Ter) rs1554434435
NM_172079.2(CAMK2B):c.901A>G (p.Lys301Glu) rs1554385111
NM_172079.2(CAMK2B):c.903+1G>A rs1554385102

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