ClinVar Miner

Variants from Kids Research, The Children's Hospital at Westmead with conflicting interpretations

Location: Australia  Primary collection method: research
Minimum review status of the submission from Kids Research, The Children's Hospital at Westmead: Collection method of the submission from Kids Research, The Children's Hospital at Westmead:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:

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
52 17 0 22 0 0 5 27

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
Kids Research, The Children's Hospital at Westmead pathogenic likely pathogenic uncertain significance
pathogenic 0 10 1
likely pathogenic 12 0 3
uncertain significance 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
OMIM 0 7 0 10 0 0 1 11
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 3 0 3 0 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 0 2 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 0 1 0 0 1 2
Baylor Genetics 0 6 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 0 1 0 0 0 1
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 0 0 0 0 0 1 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 0 0 1 0 0 0 1
Elsea Laboratory, Baylor College of Medicine 0 0 0 1 0 0 0 1
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 0 0 0 0 0 0 1 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 0 0 1 0 0 0 1
Illumina Laboratory Services, Illumina 0 1 0 1 0 0 0 1
Institute of Human Genetics Munich, TUM University Hospital 0 2 0 1 0 0 0 1
Labcorp Genetics (formerly Invitae), Labcorp 0 4 0 0 0 0 1 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 0 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 0 0 0 0 1 1
Undiagnosed Diseases Network, NIH 0 4 0 1 0 0 0 1
Variantyx, Inc. 0 0 0 1 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 4 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 27
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys) rs1801175 0.00034
NM_004092.4(ECHS1):c.476A>G (p.Gln159Arg) rs375032130 0.00009
NM_024996.7(GFM1):c.2011C>T (p.Arg671Cys) rs201408725 0.00006
NM_004092.4(ECHS1):c.538A>G (p.Thr180Ala) rs557128093 0.00004
NM_015909.4(NBAS):c.2423+404G>C rs1019313682 0.00004
NM_016373.4(WWOX):c.410G>A (p.Gly137Glu) rs761879076 0.00004
NM_016373.4(WWOX):c.689A>C (p.Gln230Pro) rs199628364 0.00004
NM_015909.4(NBAS):c.2617C>T (p.Arg873Trp) rs897487519 0.00003
NM_016373.4(WWOX):c.953C>T (p.Ser318Leu) rs770023814 0.00002
NM_001303.4(COX10):c.982G>A (p.Ala328Thr) rs777911169 0.00001
NM_015340.4(LARS2):c.683G>A (p.Arg228His) rs770440975 0.00001
NM_016373.4(WWOX):c.49G>A (p.Glu17Lys) rs780345312 0.00001
NM_032861.4(SERAC1):c.916C>T (p.Arg306Ter) rs780664696 0.00001
NC_000008.11:g.11802586_11802601del rs1563290033
NC_012920.1(MT-TL1):m.3243A>G rs199474657
NM_001258392.3(CLPB):c.1591C>T (p.Arg531Trp) rs1949512456
NM_004462.5(FDFT1):c.880-24_880-23delinsAG rs1563339323
NM_015340.4(LARS2):c.1313A>G (p.Asp438Gly) rs1575289366
NM_015340.4(LARS2):c.2099C>T (p.Thr700Ile) rs1575308774
NM_015340.4(LARS2):c.388G>A (p.Ala130Thr) rs1575240334
NM_016373.4(WWOX):c.1204G>T (p.Glu402Ter) rs200839945
NM_016373.4(WWOX):c.183C>A (p.Tyr61Ter) rs759766243
NM_016373.4(WWOX):c.409+1G>C rs1060502727
NM_016373.4(WWOX):c.606-1G>A rs730882215
NM_016373.4(WWOX):c.918del (p.Glu306fs) rs1057518795
NM_021095.4(SLC5A6):c.1285A>G (p.Ser429Gly) rs2147992303
NM_021095.4(SLC5A6):c.393+2T>C rs1274201044

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