ClinVar Miner

Variants from Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital with conflicting interpretations

Location: Saudi Arabia  Primary collection method: clinical testing
Minimum review status of the submission from Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital: Collection method of the submission from Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital:
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
37 7 0 5 2 0 6 11

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/Medical Genetics, Ministry of Health, Qatif Central Hospital pathogenic likely pathogenic uncertain significance likely benign
pathogenic 0 3 4 0
likely pathogenic 2 0 1 0
uncertain significance 0 0 0 1
benign 0 1 1 0

Submitter to submitter summary #

Total submitters: 19
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 3 0 2 2 0 2 6
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 2 0 0 0 0 4 4
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 0 0 0 1 1
Revvity Omics, Revvity 0 1 0 0 0 0 1 1
MGZ Medical Genetics Center 0 0 0 0 0 0 1 1
Counsyl 0 0 0 0 0 0 1 1
Natera, Inc. 0 0 0 0 0 0 1 1
Mendelics 0 0 0 0 0 0 1 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 0 0 0 0 1 1
Illumina Laboratory Services, Illumina 0 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 0 0 0 0 1 1
Applied Translational Genetics Group, University of Auckland 0 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 0 0 0 1 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 0 0 1 0 0 0 1
New York Genome Center 0 0 0 0 0 0 1 1
Genome-Nilou Lab 0 0 0 0 1 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 0 0 0 0 1 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 11
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000153.4(GALC):c.334A>G (p.Thr112Ala) rs147313927 0.00229
NM_000152.5(GAA):c.610G>A (p.Ala204Thr) rs780799275 0.00010
NM_002633.3(PGM1):c.1543C>T (p.Arg515Trp) rs775651976 0.00002
NM_000155.4(GALT):c.820+2T>C
NM_000507.4(FBP1):c.114_119dup (p.Cys39_Thr40dup) rs1554682769
NM_001042492.3(NF1):c.1954C>T (p.Arg652Cys) rs786202436
NM_002076.4(GNS):c.1019A>G (p.Lys340Arg)
NM_003054.6(SLC18A2):c.710C>A (p.Pro237His) rs767337086
NM_004333.6(BRAF):c.1798G>C (p.Val600Leu) rs121913378
NM_054012.4(ASS1):c.379C>T (p.Arg127Trp) rs771794639
NM_183050.4(BCKDHB):c.580C>T (p.Leu194Phe)

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