ClinVar Miner

Variants from RettBASE with conflicting interpretations

Location: Australia — Primary collection method: curation
Minimum review status of the submission from RettBASE: Collection method of the submission from RettBASE:
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
753 141 0 78 17 1 11 98

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
RettBASE pathogenic likely pathogenic uncertain significance likely benign benign risk factor
pathogenic 0 19 0 0 0 1
likely pathogenic 4 0 0 0 0 0
uncertain significance 7 4 0 1 0 0
likely benign 0 0 2 0 1 0
benign 1 0 14 54 0 0

Submitter to submitter summary #

Total submitters: 33
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 51 0 28 4 0 0 32
Genetic Services Laboratory, University of Chicago 0 73 0 14 0 0 4 18
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 0 8 8 0 1 17
Ambry Genetics 0 23 0 11 1 0 0 12
Integrated Genetics/Laboratory Corporation of America 0 29 0 7 0 0 0 7
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 42 0 4 3 0 0 7
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 0 9 0 4 0 0 1 5
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 0 0 5 0 0 0 5
OMIM 0 25 0 1 0 1 2 4
Invitae 0 30 0 4 0 0 0 4
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 5 0 3 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 0 7 0 2 0 0 1 3
Center for Human Genetics, Inc,Center for Human Genetics, Inc 0 7 0 2 0 0 0 2
GeneReviews 0 6 0 1 0 0 1 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 2 0 1 0 0 1 2
Baylor Genetics 0 4 0 0 0 0 1 1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 0 1 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 7 0 0 1 0 0 1
PreventionGenetics, PreventionGenetics 0 4 0 1 0 0 0 1
Mendelics 0 5 0 0 0 0 1 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 0 0 0 0 1 1
Fulgent Genetics,Fulgent Genetics 0 2 0 0 1 0 0 1
Blueprint Genetics 0 2 0 1 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 0 6 0 0 0 0 1 1
Center for Human Genetics,University of Leuven 0 0 0 1 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 2 0 1 0 0 0 1
Neurogenetics Laboratory - MEYER,AOU Meyer 0 2 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 1 0 0 0 1
TIDEX, University of British Columbia 0 0 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 2 0 1 0 0 0 1
Biochemistry Laboratory of CDMU,Chengde Medical University 0 0 0 0 0 0 1 1
Section for Clinical Neurogenetics,University of Tübingen 0 0 0 0 0 0 1 1
New York Genome Center 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 98
Download table as spreadsheet
HGVS dbSNP
NM_001110792.2(MECP2):c.1000C>T (p.Pro334Ser) rs61751449
NM_001110792.2(MECP2):c.1032C>T (p.Ser344=) rs148744894
NM_001110792.2(MECP2):c.1107C>T (p.Ser369=) rs61750236
NM_001110792.2(MECP2):c.1108G>A (p.Ala370Thr) rs147017239
NM_001110792.2(MECP2):c.1111T>C (p.Ser371Pro) rs61752371
NM_001110792.2(MECP2):c.1162C>T (p.Pro388Ser) rs61752387
NM_001110792.2(MECP2):c.1169C>T (p.Ala390Val) rs201314910
NM_001110792.2(MECP2):c.1198CCACCT[1] (p.Pro402_Pro403del) rs61753008
NM_001110792.2(MECP2):c.1198_1215del (p.Pro400_Pro405del) rs267608406
NM_001110792.2(MECP2):c.1199_1233del (p.Pro400fs) rs267608589
NM_001110792.2(MECP2):c.1216G>A (p.Glu406Lys) rs63094662
NM_001110792.2(MECP2):c.1225G>A (p.Glu409Lys) rs56268439
NM_001110792.2(MECP2):c.1232C>T (p.Pro411Leu) rs62915962
NM_001110792.2(MECP2):c.1233C>T (p.Pro411=) rs61753012
NM_001110792.2(MECP2):c.1241C>T (p.Pro414Leu) rs61753014
NM_001110792.2(MECP2):c.1242C>T (p.Pro414=) rs63586860
NM_001110792.2(MECP2):c.1251C>T (p.Pro417=) rs61753964
NM_001110792.2(MECP2):c.1270G>A (p.Val424Ile) rs61753966
NM_001110792.2(MECP2):c.1314C>T (p.Ser438=) rs267608619
NM_001110792.2(MECP2):c.1318G>A (p.Gly440Ser) rs61753971
NM_001110792.2(MECP2):c.1366G>A (p.Ala456Thr) rs61753975
NM_001110792.2(MECP2):c.1371G>A (p.Thr457=) rs3027927
NM_001110792.2(MECP2):c.1375G>A (p.Ala459Thr) rs267608626
NM_001110792.2(MECP2):c.143_149del (p.Lys48fs) rs267608424
NM_001110792.2(MECP2):c.1440G>A (p.Arg480=) rs267608633
NM_001110792.2(MECP2):c.1469G>A (p.Arg490Gln) rs145790362
NM_001110792.2(MECP2):c.1473G>A (p.Thr491=) rs587781033
NM_001110792.2(MECP2):c.1A>G (p.Met1Val) rs587783132
NM_001110792.2(MECP2):c.204C>T (p.Pro68=) rs61754435
NM_001110792.2(MECP2):c.261G>A (p.Pro87=) rs61754442
NM_001110792.2(MECP2):c.334C>G (p.Leu112Val) rs28935168
NM_001110792.2(MECP2):c.337C>T (p.Pro113Ser) rs61754452
NM_001110792.2(MECP2):c.338C>G (p.Pro113Arg) rs61754453
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp) rs28934907
NM_001110792.2(MECP2):c.411C>A (p.Ile137=) rs146107517
NM_001110792.2(MECP2):c.429C>G (p.Ala143=) rs61748385
NM_001110792.2(MECP2):c.437C>G (p.Ser146Cys) rs61748390
NM_001110792.2(MECP2):c.439A>G (p.Lys147Glu) rs61748391
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val) rs28934908
NM_001110792.2(MECP2):c.488A>G (p.Asp163Gly) rs61748403
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) rs28934906
NM_001110792.2(MECP2):c.510G>A (p.Thr170=) rs61748413
NM_001110792.2(MECP2):c.563C>G (p.Pro188Arg) rs61749701
NM_001110792.2(MECP2):c.5C>T (p.Ala2Val) rs179363901
NM_001110792.2(MECP2):c.610A>T (p.Lys204Ter) rs193922679
NM_001110792.2(MECP2):c.62+1G>A rs786205048
NM_001110792.2(MECP2):c.626C>T (p.Thr209Met) rs61749714
NM_001110792.2(MECP2):c.644C>T (p.Thr215Met) rs61749720
NM_001110792.2(MECP2):c.669G>C (p.Arg223Ser) rs61749731
NM_001110792.2(MECP2):c.696C>T (p.Leu232=) rs267608512
NM_001110792.2(MECP2):c.6CGC[7] (p.Ala8dup) rs398123566
NM_001110792.2(MECP2):c.6CGC[8] (p.Ala7_Ala8dup) rs398123566
NM_001110792.2(MECP2):c.710C>G (p.Pro237Arg) rs61749715
NM_001110792.2(MECP2):c.722C>T (p.Ser241Leu) rs61749739
NM_001110792.2(MECP2):c.726A>C (p.Pro242=) rs61749740
NM_001110792.2(MECP2):c.756C>T (p.Thr252=) rs61749746
NM_001110792.2(MECP2):c.785G>A (p.Arg262His) rs61750227
NM_001110792.2(MECP2):c.786C>T (p.Arg262=) rs61748424
NM_001110792.2(MECP2):c.789C>T (p.Pro263=) rs63582063
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) rs61749721
NM_001110792.2(MECP2):c.813C>T (p.Ala271=) rs1042870
NM_001110792.2(MECP2):c.851C>T (p.Pro284Leu) rs61750243
NM_001110792.2(MECP2):c.870C>T (p.Ala290=) rs61750248
NM_001110792.2(MECP2):c.876C>T (p.Ala292=) rs61750251
NM_001110792.2(MECP2):c.885C>G (p.Ala295=) rs61750253
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_001110792.2(MECP2):c.933C>T (p.Thr311=) rs61748423
NM_001110792.2(MECP2):c.941C>T (p.Pro314Leu) rs61749723
NM_001110792.2(MECP2):c.953G>A (p.Arg318His) rs61751443
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp) rs61751444
NM_001110792.2(MECP2):c.978C>T (p.Ile326=) rs61751446
NM_001323289.2(CDKL5):c.1278A>C (p.Ser426=) rs267608620
NM_001323289.2(CDKL5):c.1330C>T (p.Arg444Cys) rs61753977
NM_001323289.2(CDKL5):c.1400A>G (p.His467Arg) rs267608631
NM_001323289.2(CDKL5):c.1431T>C (p.Ser477=) rs143992148
NM_001323289.2(CDKL5):c.1455_1460del (p.Ala486_Lys487del) rs587783114
NM_001323289.2(CDKL5):c.163_166del (p.Glu55fs) rs267608433
NM_001323289.2(CDKL5):c.1675C>T (p.Arg559Ter) rs267608395
NM_001323289.2(CDKL5):c.1892T>C (p.Ile631Thr) rs144878564
NM_001323289.2(CDKL5):c.2389G>A (p.Asp797Asn) rs140313320
NM_001323289.2(CDKL5):c.2413C>T (p.Gln805Ter) rs267608659
NM_001323289.2(CDKL5):c.2635_2636del (p.Leu879fs) rs61753251
NM_001323289.2(CDKL5):c.2673G>A (p.Gln891=) rs373448935
NM_001323289.2(CDKL5):c.532C>T (p.Arg178Trp) rs267608493
NM_001323289.2(CDKL5):c.555-19C>G rs75057928
NM_001323289.2(CDKL5):c.587C>T (p.Ser196Leu) rs267608501
NM_001323289.2(CDKL5):c.62A>G (p.Glu21Gly) rs587783406
NM_001323289.2(CDKL5):c.872G>A (p.Cys291Tyr) rs267606714
NM_003159.2(CDKL5):c.2854C>T (p.Arg952Ter) rs202153551
NM_003159.2(CDKL5):c.2928G>A (p.Pro976=) rs140944590
NM_003159.2(CDKL5):c.3003C>T (p.His1001=) rs36022183
NM_003159.2(CDKL5):c.3084G>A (p.Thr1028=) rs139155110
NM_004992.3(MECP2):c.378-17del rs61753982
NM_004992.3(MECP2):c.378-3C>G rs267608465
NM_005249.5(FOXG1):c.141CCA[8] (p.His57dup) rs587783630
NM_005249.5(FOXG1):c.256C>T (p.Gln86Ter) rs398124202
NM_005249.5(FOXG1):c.326C>T (p.Pro109Leu) rs398124203
NM_005249.5(FOXG1):c.610C>T (p.Leu204Phe) rs786205006

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.