Variants from Molecular Biology Laboratory, Department of Zoology, Quaid-i-azam University with conflicting interpretations

Minimum review status of the submission from Molecular Biology Laboratory, Department of Zoology, Quaid-i-azam University:	★☆☆☆ criteria provided ★★★☆ reviewed by expert panel ★★★★ practice guideline	Collection method of the submission from Molecular Biology Laboratory, Department of Zoology, Quaid-i-azam University:	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
13	0	0	6	2	2	5	13

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
Molecular Biology Laboratory, Department of Zoology, Quaid-i-azam University		pathogenic	likely pathogenic	uncertain significance	likely benign
	pathogenic	0	4	3	0
	likely pathogenic	2	0	1	0
	uncertain significance	1	1	0	2
	association not found	1	2	0	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
Invitae	0	2	0	1	2	2	2	7
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova	0	1	0	1	0	1	1	3
Counsyl	0	2	0	1	0	0	1	2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	0	2	0	1	0	0	1	2
Genome-Nilou Lab	0	1	0	2	0	0	0	2
OMIM	0	1	0	1	0	0	0	1
Revvity Omics, Revvity	0	2	0	0	0	0	1	1
Elsea Laboratory, Baylor College of Medicine	0	0	0	0	0	0	1	1
MGZ Medical Genetics Center	0	0	0	1	0	0	0	1
Natera, Inc.	0	1	0	0	0	0	1	1
Fulgent Genetics, Fulgent Genetics	0	0	0	1	0	0	0	1
SingHealth Duke-NUS Institute of Precision Medicine	0	0	0	0	0	0	1	1
3billion	0	2	0	0	0	0	1	1
Suma Genomics	0	0	0	0	0	0	1	1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	0	0	0	1	0	0	0	1
Neuberg Centre For Genomic Medicine, NCGM	0	1	0	1	0	0	0	1

All variants with conflicting interpretations #

HGVS	dbSNP	gnomAD frequency
NM_001370658.1(BTD):c.1270G>C (p.Asp424His)	rs13078881	0.03225
NM_000152.5(GAA):c.1930G>T (p.Ala644Ser)	rs752735168	0.00003
NM_000512.5(GALNS):c.871G>A (p.Ala291Thr)	rs118204448	0.00003
NM_000263.4(NAGLU):c.2020C>T (p.Arg674Cys)	rs763299645	0.00002
NM_000199.5(SGSH):c.258T>C (p.Asn86=)	rs1425717342	0.00001
NM_000199.5(SGSH):c.817G>A (p.Asp273Asn)	rs1046551417	0.00001
NM_000035.4(ALDOB):c.264C>T (p.Asp88=)	rs200585150
NM_000202.8(IDS):c.1264T>G (p.Cys422Gly)	rs199422229
NM_000203.5(IDUA):c.1469T>C (p.Leu490Pro)	rs121965027
NM_000512.5(GALNS):c.107T>C (p.Leu36Pro)	rs755832705
NM_000512.5(GALNS):c.1259C>G (p.Pro420Arg)	rs752937387
NM_000512.5(GALNS):c.1365-2A>G
NM_000512.5(GALNS):c.423-1G>A	rs2143002474