ClinVar Miner

Variants from Pediatric Genetics Clinic, Sheba Medical Center with conflicting interpretations

Location: Israel  Primary collection method: clinical testing
Minimum review status of the submission from Pediatric Genetics Clinic, Sheba Medical Center: Collection method of the submission from Pediatric Genetics Clinic, Sheba Medical Center:
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
79 25 0 18 0 0 5 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
Pediatric Genetics Clinic, Sheba Medical Center pathogenic likely pathogenic uncertain significance benign
pathogenic 0 14 3 1
likely pathogenic 4 0 2 0

Submitter to submitter summary #

Total submitters: 25
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
Invitae 0 10 0 1 0 0 2 3
OMIM 0 14 0 1 0 0 1 2
PreventionGenetics, part of Exact Sciences 0 0 0 2 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 0 0 2 0 0 0 2
New York Genome Center 0 3 0 2 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 2 0 0 0 2
Genomics England Pilot Project, Genomics England 0 0 0 2 0 0 0 2
Baylor Genetics 0 9 0 1 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 0 0 0 1 1
GeneDx 0 0 0 0 0 0 1 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 1 0 1 0 0 0 1
Counsyl 0 0 0 1 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 1 0 0 0 1
Mendelics 0 0 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 6 0 1 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 1 0 0 0 1
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 0 0 1 0 0 0 1
Diagnostic Laboratory, Strasbourg University Hospital 0 0 0 1 0 0 0 1
Undiagnosed Diseases Network, NIH 0 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 10 0 1 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 4 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 2 0 1 0 0 0 1
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 0 0 0 0 1 1
3billion 0 10 0 1 0 0 0 1
Tumer Group, Copenhagen University Hospital, Rigshospitalet 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_178452.6(DNAAF1):c.1698+1G>A rs139519641 0.00041
NM_020964.3(EPG5):c.1007A>G (p.Gln336Arg) rs201757275 0.00002
NM_207346.3(TSEN54):c.371G>T (p.Gly124Val) rs774157225 0.00002
NM_022455.5(NSD1):c.4411C>G (p.Arg1471Gly) rs570278338 0.00001
NM_000321.3(RB1):c.2359C>T (p.Arg787Ter) rs137853293
NM_001032221.6(STXBP1):c.236C>T (p.Pro79Leu) rs1588302912
NM_001083962.2(TCF4):c.1817C>T (p.Thr606Ile) rs2144403104
NM_001161352.2(KCNMA1):c.3158A>G (p.Asn1053Ser) rs886039469
NM_001303052.2(MYT1L):c.1706G>A (p.Arg569Gln) rs878853045
NM_001321075.3(DLG4):c.1083G>A (p.Ser361=) rs1227093654
NM_001349338.3(FOXP1):c.1652+5G>A rs794727216
NM_001371928.1(AHDC1):c.2062C>T (p.Arg688Ter) rs1165205177
NM_001374828.1(ARID1B):c.2603_2606del (p.Arg868fs) rs1085307695
NM_002715.4(PPP2CA):c.667G>C (p.Asp223His) rs1580636668
NM_004519.4(KCNQ3):c.688C>T (p.Arg230Cys) rs796052676
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys)
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) rs398123009
NM_020822.3(KCNT1):c.1421G>A (p.Arg474His)
NM_020928.2(ZSWIM6):c.2737C>T (p.Arg913Ter) rs1554041295
NM_152564.5(VPS13B):c.11831_11841delinsG (p.Pro3944fs) rs786204456
NM_152654.3(DAND5):c.396_397dup (p.Tyr133fs) rs768842269
NM_181426.2(CCDC39):c.1871_1872del (p.Ile624fs) rs1560086701

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