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
265 42 0 11 2 1 8 22

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 8 1 0 1
likely pathogenic 3 0 6 0 0
uncertain significance 1 0 0 1 0
likely benign 0 0 1 0 0

Submitter to submitter summary #

Total submitters: 9
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 37 0 4 0 0 3 7
CeGaT Praxis fuer Humangenetik Tuebingen 0 17 0 3 1 0 2 6
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 4 0 2 0 0 2 4
Athena Diagnostics Inc 0 1 0 0 0 0 1 1
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 0 1 0 1 0 0 0 1
Invitae 0 4 0 0 1 0 0 1
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 12 0 1 0 0 0 1
PharmGKB 0 0 0 0 0 1 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 22
Download table as spreadsheet
HGVS dbSNP
NM_000540.3(RYR1):c.14582G>A (p.Arg4861His) rs63749869
NM_001042681.2(RERE):c.3249dup (p.Ser1084fs) rs745806637
NM_001069.3(TUBB2A):c.1172G>A (p.Arg391His) rs1057521250
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_001134407.3(GRIN2A):c.2069C>T (p.Thr690Met) rs1445802934
NM_001605.3(AARS1):c.259G>A rs763757370
NM_003590.5(CUL3):c.491_492CT[1] (p.Leu165fs) rs1553523940
NM_003718.5(CDK13):c.2525A>G (p.Asn842Ser) rs878853160
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_014225.6(PPP2R1A):c.655T>C (p.Ser219Pro)
NM_016343.4(CENPF):c.3811A>G (p.Lys1271Glu) rs62000407
NM_017519.2(ARID1B):c.5351_5354TGTT[1] (p.Phe1785fs) rs1554237269
NM_017946.4(FKBP14):c.362dup (p.Glu122fs) rs542489955
NM_024678.6(NARS2):c.151C>T (p.Arg51Cys) rs367584549
NM_031407.7(HUWE1):c.12037C>T (p.Arg4013Trp) rs121918525
NM_033517.1(SHANK3):c.4649_4653dup rs1603447373
NM_033629.6(TREX1):c.218C>T (p.Pro73Leu) rs755919767

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