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

Minimum review status of the submission from Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital:	★☆☆☆ criteria provided ★★★☆ reviewed by expert panel ★★★★ practice guideline	Collection method of the submission from Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital:	clinical testing curation literature only research other
Minimum review status of the other submission:	★☆☆☆ criteria provided ★★★☆ reviewed by expert panel ★★★★ practice guideline	Collection method of the other submission:	clinical testing curation literature only research other
Minimum conflict level: confidence conflict (e.g. benign vs likely benign) benign or likely benign vs uncertain conflict category conflict (e.g. benign vs affects) clinically significant conflict (e.g. benign vs pathogenic) Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version: 2025-04-29

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
43	9	0	9	2	0	7	14

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	5	4	0
	likely pathogenic	4	0	2	0
	uncertain significance	0	0	0	1
	benign	0	1	1	0

Submitter to submitter summary #

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
Labcorp Genetics (formerly Invitae), Labcorp	0	5	0	2	1	0	3	6
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	0	3	0	1	0	0	4	5
Fulgent Genetics, Fulgent Genetics	0	0	0	2	0	0	0	2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	0	1	0	1	0	0	1	2
Neuberg Centre For Genomic Medicine, NCGM	0	0	0	1	0	0	1	2
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
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	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
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn	0	0	0	1	0	0	0	1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital	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
Molecular Genetics, Royal Melbourne Hospital	0	0	0	0	0	0	1	1

All variants with conflicting interpretations #

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_002225.5(IVD):c.863C>T (p.Ala288Val)	rs886042098
NM_003054.6(SLC18A2):c.710C>A (p.Pro237His)	rs767337086
NM_004333.6(BRAF):c.1798G>C (p.Val600Leu)	rs121913378
NM_020533.3(MCOLN1):c.1336G>A (p.Val446Met)	rs754097561
NM_024105.4(ALG12):c.768+1dup
NM_054012.4(ASS1):c.379C>T (p.Arg127Trp)	rs771794639
NM_183050.4(BCKDHB):c.580C>T (p.Leu194Phe)