ClinVar Miner

Variants from Neurogenetics Laboratory - MEYER,AOU Meyer with conflicting interpretations

Location: Italy — Primary collection method: clinical testing
Minimum review status of the submission from Neurogenetics Laboratory - MEYER,AOU Meyer: Collection method of the submission from Neurogenetics Laboratory - MEYER,AOU Meyer:
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
35 14 1 13 2 0 7 20

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
Neurogenetics Laboratory - MEYER,AOU Meyer pathogenic likely pathogenic uncertain significance likely benign
pathogenic 1 2 3 0
likely pathogenic 11 0 2 0
uncertain significance 1 1 0 2

Submitter to submitter summary #

Total submitters: 21
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 12 0 6 2 0 2 10
OMIM 0 2 0 4 0 0 0 4
Invitae 0 9 0 2 1 0 0 3
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 3 0 2 0 0 1 3
GeneReviews 0 4 1 2 0 0 0 3
Baylor Miraca Genetics Laboratories, 0 1 0 0 0 0 2 2
Genetic Services Laboratory, University of Chicago 0 7 0 1 0 0 1 2
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 0 0 0 1 0 0 1 2
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 1 0 1 0 0 1 2
RettBASE 0 2 0 2 0 0 0 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 1 0 1 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 1 0 1 0 0 0 1
Ambry Genetics 0 4 0 1 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 0 1 0 1 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 0 0 1 0 0 0 1
Fulgent Genetics 0 1 0 1 0 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 0 0 0 1 0 0 0 1
Illumina Clinical Services Laboratory,Illumina 0 0 0 0 1 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 2 0 0 1 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 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

All variants with conflicting interpretations #

Total variants: 20
Download table as spreadsheet
HGVS dbSNP
NM_000702.3(ATP1A2):c.1777C>T (p.Arg593Trp) rs886039530
NM_000833.4(GRIN2A):c.3827C>G (p.Ala1276Gly) rs145063086
NM_001130438.2(SPTAN1):c.6908_6916delACCAGCTGG (p.Asp2303_Leu2305del) rs587784440
NM_003159.2(CDKL5):c.587C>T (p.Ser196Leu) rs267608501
NM_004992.3(MECP2):c.397C>T (p.Arg133Cys) rs28934904
NM_004992.3(MECP2):c.763C>T (p.Arg255Ter) rs61749721
NM_014191.3(SCN8A):c.4423G>A (p.Gly1475Arg) rs796053216
NM_014191.3(SCN8A):c.5630A>G (p.Asn1877Ser) rs587780455
NM_020822.2(KCNT1):c.1546A>G (p.Met516Val) rs886041691
NM_020822.2(KCNT1):c.2882G>A (p.Arg961His) rs200694691
NM_021007.2(SCN2A):c.2687C>T (p.Ala896Val) rs1057519526
NM_021007.2(SCN2A):c.3947C>T (p.Ala1316Val) rs796053130
NM_021007.2(SCN2A):c.5645G>A (p.Arg1882Gln) rs794727444
NM_021072.3(HCN1):c.1172G>A (p.Gly391Asp) rs1057519547
NM_021072.3(HCN1):c.459G>C (p.Met153Ile) rs1057519548
NM_130838.1(UBE3A):c.947T>C (p.Met316Thr) rs863225071
NM_172107.3(KCNQ2):c.1742G>A (p.Arg581Gln) rs118192235
NM_172107.3(KCNQ2):c.2329C>T (p.Pro777Ser) rs748400155
NM_172107.3(KCNQ2):c.802C>T (p.Leu268Phe) rs1057516094
NM_172107.3(KCNQ2):c.901G>A (p.Gly301Ser) rs1057516099

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