Variants from MAGI's Lab - Research, MAGI Group with conflicting interpretations

Minimum review status of the submission from MAGI's Lab - Research, MAGI Group:	★☆☆☆ criteria provided ★★★☆ reviewed by expert panel ★★★★ practice guideline	Collection method of the submission from MAGI's Lab - Research, MAGI Group:	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: 2024-06-30

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
44	8	0	9	0	0	1	9

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
MAGI's Lab - Research, MAGI Group		likely pathogenic	uncertain significance
	pathogenic	9	1

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
Institute of Tissue Medicine and Pathology, University of Bern	0	0	0	4	0	0	0	4
Database of Curated Mutations (DoCM)	0	0	0	3	0	0	0	3
GeneDx	0	9	0	0	0	0	1	1
Revvity Omics, Revvity	0	0	0	1	0	0	0	1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden	0	0	0	1	0	0	0	1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	0	0	0	1	0	0	0	1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	0	0	0	1	0	0	0	1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital	0	9	0	0	0	0	1	1
Institute of Medical and Molecular Genetics, Hospital Universitario La Paz	0	4	0	1	0	0	0	1

All variants with conflicting interpretations #

HGVS	dbSNP	gnomAD frequency
NM_000314.8(PTEN):c.388C>T (p.Arg130Ter)	rs121909224	0.00001
NM_000459.5(TEK):c.2743C>T (p.Arg915Cys)	rs1825682922
NM_000459.5(TEK):c.2753G>A (p.Arg918His)	rs1554701458
NM_006218.4(PIK3CA):c.1258T>C (p.Cys420Arg)	rs121913272
NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys)	rs121913273
NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys)	rs104886003
NM_006218.4(PIK3CA):c.1634A>C (p.Glu545Ala)	rs121913274
NM_006218.4(PIK3CA):c.2740G>A (p.Gly914Arg)	rs587776932
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg)	rs121913279