Variants from IIFP, CONICET-UNLP with conflicting interpretations

Minimum review status of the submission from IIFP, CONICET-UNLP:	★☆☆☆ criteria provided ★★★☆ reviewed by expert panel ★★★★ practice guideline	Collection method of the submission from IIFP, CONICET-UNLP:	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
16	8	0	4	0	5	2	8

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
IIFP, CONICET-UNLP		likely pathogenic	uncertain significance	likely benign	benign	affects
	pathogenic	4	1	1	1	5

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
Pediatrics, All India Institute of Medical Sciences, New Delhi	0	0	0	0	0	5	0	5
Invitae	0	11	0	0	0	0	2	2
Genome-Nilou Lab	0	9	0	1	0	0	1	2
Revvity Omics, Revvity	0	1	0	1	0	0	0	1
Natera, Inc.	0	1	0	0	0	0	1	1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	0	2	0	1	0	0	0	1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences	0	5	0	1	0	0	0	1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	0	1	0	1	0	0	0	1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	0	0	0	0	0	0	1	1
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova	0	1	0	1	0	0	0	1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital	0	0	0	0	0	0	1	1

All variants with conflicting interpretations #

HGVS	dbSNP	gnomAD frequency
NM_000202.8(IDS):c.641C>T (p.Thr214Met)	rs61736892	0.01492
NM_000202.8(IDS):c.1122C>T (p.Gly374=)	rs113993948
NM_000202.8(IDS):c.1181-1G>A	rs864622777
NM_000202.8(IDS):c.1402C>T (p.Arg468Trp)	rs199422231
NM_000202.8(IDS):c.253G>A (p.Ala85Thr)	rs113993949
NM_000202.8(IDS):c.469C>T (p.Pro157Ser)	rs864622774
NM_000202.8(IDS):c.592G>A (p.Asp198Asn)	rs193302904
NM_000202.8(IDS):c.998C>T (p.Ser333Leu)	rs104894853