Variants from UniProtKB/Swiss-Prot with conflicting interpretations

Minimum review status of the submission from UniProtKB/Swiss-Prot:	★☆☆☆ criteria provided ★★★☆ reviewed by expert panel ★★★★ practice guideline	Collection method of the submission from UniProtKB/Swiss-Prot:	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: 2024-09-02

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
521	397	0	2	1	0	0	3

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
UniProtKB/Swiss-Prot		pathogenic	uncertain significance	benign
	likely pathogenic	1	0	0
	likely benign	0	1	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
Invitae	0	143	0	1	1	0	0	2
OMIM	0	85	0	1	0	0	0	1
Athena Diagnostics	0	12	0	1	0	0	0	1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	0	4	0	1	0	0	0	1
GeneDx	0	87	0	1	0	0	0	1
Revvity Omics, Revvity	0	14	0	1	0	0	0	1
PreventionGenetics, part of Exact Sciences	0	28	0	0	1	0	0	1
Eurofins Ntd Llc (ga)	0	20	0	1	0	0	0	1
CeGaT Center for Human Genetics Tuebingen	0	35	0	1	0	0	0	1
Institute of Human Genetics, University of Leipzig Medical Center	0	7	0	1	0	0	0	1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	0	13	0	1	0	0	0	1

All variants with conflicting interpretations #

HGVS	dbSNP	gnomAD frequency
NM_001127222.2(CACNA1A):c.1357G>A (p.Ala453Thr)	rs41276886	0.00451
NM_000207.3(INS):c.202C>A (p.Leu68Met)	rs121908279	0.00002
NM_018834.6(MATR3):c.254C>G (p.Ser85Cys)	rs121434591