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 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
379 55 0 26 2 1 9 38

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 likely benign drug response
pathogenic 0 20 2 0 1
likely pathogenic 6 0 6 0 0
uncertain significance 1 0 0 2 0
likely benign 0 0 1 0 0

Submitter to submitter summary #

Total submitters: 20
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 48 0 5 0 0 5 10
CeGaT Praxis fuer Humangenetik Tuebingen 0 25 0 3 0 0 4 7
Invitae 0 7 0 2 1 0 0 3
University of Washington Center for Mendelian Genomics, University of Washington 0 0 0 3 0 0 0 3
NIHR Bioresource Rare Diseases, University of Cambridge 0 0 0 3 0 0 0 3
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 0 5 0 2 0 0 0 2
Athena Diagnostics Inc 0 1 0 0 0 0 1 1
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 0 2 0 1 0 0 0 1
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 13 0 1 0 0 0 1
PharmGKB 0 0 0 0 0 1 0 1
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg 0 0 0 1 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 470 1 0 0 1 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 3 0 1 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 0 1 0 0 0 1
Undiagnosed Diseases Network,NIH 0 0 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 0 1 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 4 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 12 0 1 0 0 0 1
Institute for Human Genetics, University Hospital Essen 0 0 0 1 0 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 0 5 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 38
Download table as spreadsheet
HGVS dbSNP
NM_000391.4(TPP1):c.1593dup (p.Glu532fs) rs1216139602
NM_000540.3(RYR1):c.14582G>A (p.Arg4861His) rs63749869
NM_000834.4(GRIN2B):c.2539C>T (p.Arg847Ter) rs879253931
NM_001042475.3(CEP85L):c.232+1G>T
NM_001042681.2(RERE):c.3249dup (p.Ser1084fs) rs745806637
NM_001069.3(TUBB2A):c.728C>T (p.Pro243Leu) rs1554122947
NM_001080517.3(SETD5):c.2644C>T (p.Arg882Ter) rs1553635637
NM_001080522.2(CC2D2A):c.4465_4468del (p.Asp1489fs) rs797045437
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys) rs1555408401
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val) rs28934908
NM_001134407.3(GRIN2A):c.2069C>T (p.Thr690Met) rs1445802934
NM_001190737.2(NFIB):c.1330C>T (p.Arg444Ter) rs1191193223
NM_001303256.3(MORC2):c.394C>T (p.Arg132Cys) rs1064795559
NM_001372044.2(SHANK3):c.4874_4878dup (p.Pro1627fs) rs1603447373
NM_001374828.1(ARID1B):c.5763_5766del (p.Phe1921fs) rs1554237269
NM_001605.3(AARS1):c.259G>A rs763757370
NM_001791.4(CDC42):c.68A>G (p.Tyr23Cys) rs797044916
NM_003590.5(CUL3):c.493_494del (p.Leu165fs) rs1553523940
NM_003718.5(CDK13):c.2525A>G (p.Asn842Ser) rs878853160
NM_004069.5(AP2S1):c.28C>T (p.Arg10Trp) rs1064795235
NM_004333.6(BRAF):c.1574T>C (p.Leu525Pro) rs869025340
NM_004380.3(CREBBP):c.5356C>T (p.Arg1786Cys) rs1555471394
NM_004975.4(KCNB1):c.935G>A (p.Arg312His) rs1555889127
NM_005027.4(PIK3R2):c.1694C>G (p.Pro565Arg) rs1131691683
NM_006009.4(TUBA1A):c.5G>A (p.Arg2His) rs587784491
NM_006494.4(ERF):c.1201_1202del (p.Lys401fs) rs1064794325
NM_013275.6(ANKRD11):c.1381_1384del (p.Glu461fs) rs1597464953
NM_015021.3(ZNF292):c.6160_6161del (p.Glu2054fs)
NM_016343.4(CENPF):c.3811A>G (p.Lys1271Glu) rs62000407
NM_017946.4(FKBP14):c.362dup (p.Glu122fs) rs542489955
NM_020778.4(ALPK3):c.3781C>T (p.Arg1261Ter) rs749465164
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679
NM_024678.6(NARS2):c.151C>T (p.Arg51Cys) rs367584549
NM_031407.7(HUWE1):c.12037C>T (p.Arg4013Trp) rs121918525
NM_033629.6(TREX1):c.218C>T (p.Pro73Leu) rs755919767
NM_172107.4(KCNQ2):c.1678C>T (p.Arg560Trp) rs773171451
NM_172362.3(KCNH1):c.1136T>C (p.Leu379Pro) rs878853026
NM_177559.3(CSNK2A1):c.593A>G (p.Lys198Arg) rs869312840

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