Variants from Donald Williams Parsons Laboratory, Baylor College of Medicine with conflicting interpretations

Minimum review status of the submission from Donald Williams Parsons Laboratory, Baylor College of Medicine:	★☆☆☆ criteria provided ★★★☆ reviewed by expert panel ★★★★ practice guideline	Collection method of the submission from Donald Williams Parsons Laboratory, Baylor College of Medicine:	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: 2024-03-31

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
67	6	0	6	0	4	3	10

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
Donald Williams Parsons Laboratory, Baylor College of Medicine		pathogenic	likely pathogenic	uncertain significance
	pathogenic	0	6	3
	other	1	3	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
Database of Curated Mutations (DoCM)	0	0	0	0	0	3	0	3
Baylor Genetics	0	3	0	1	0	0	1	2
Counsyl	0	1	0	1	0	0	1	2
OMIM	0	4	0	0	0	1	0	1
Revvity Omics, Revvity	0	2	0	0	0	0	1	1
Invitae	0	4	0	1	0	0	0	1
Mendelics	0	3	0	1	0	0	0	1
Illumina Laboratory Services, Illumina	0	2	0	0	0	0	1	1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology	0	1	0	0	0	0	1	1
NIHR Bioresource Rare Diseases, University of Cambridge	0	0	0	1	0	0	0	1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	0	0	0	1	0	0	0	1
Institute of Human Genetics, University of Leipzig Medical Center	0	1	0	1	0	0	0	1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	0	0	0	1	0	0	0	1
Bioinformatics Unit, Institut Pasteur de Montevideo	0	0	0	1	0	0	0	1

All variants with conflicting interpretations #

HGVS	dbSNP	gnomAD frequency
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp)	rs36053993	0.00341
NM_016038.4(SBDS):c.258+2T>C	rs113993993	0.00323
NM_000335.5(SCN5A):c.3908C>T (p.Thr1303Met)	rs199473603	0.00021
NM_000546.6(TP53):c.743G>A (p.Arg248Gln)	rs11540652	0.00002
NM_000136.3(FANCC):c.1663C>T (p.Arg555Ter)	rs370974124
NM_001904.4(CTNNB1):c.101G>A (p.Gly34Glu)	rs28931589
NM_001904.4(CTNNB1):c.121A>G (p.Thr41Ala)	rs121913412
NM_001904.4(CTNNB1):c.94G>T (p.Asp32Tyr)	rs28931588
NM_001904.4(CTNNB1):c.98C>G (p.Ser33Cys)	rs121913400
NM_003748.4(ALDH4A1):c.866+1G>A	rs78532707