Variants from Cellular and Molecular Medicine Research Institute, Urmia University of Medical Sciences with conflicting interpretations

Minimum review status of the submission from Cellular and Molecular Medicine Research Institute, Urmia University of Medical Sciences:	★☆☆☆ criteria provided ★★★☆ reviewed by expert panel ★★★★ practice guideline	Collection method of the submission from Cellular and Molecular Medicine Research Institute, Urmia University of Medical Sciences:	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: 2024-12-01

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
3	11	0	2	0	0	1	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
Cellular and Molecular Medicine Research Institute, Urmia University of Medical Sciences		pathogenic	likely pathogenic
	likely pathogenic	2	0
	uncertain significance	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
OMIM	0	5	0	2	0	0	1	3
Baylor Genetics	0	7	0	1	0	0	1	2
Revvity Omics, Revvity	0	4	0	1	0	0	1	2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	0	5	0	1	0	0	1	2
Labcorp Genetics (formerly Invitae), Labcorp	0	4	0	1	0	0	1	2
Natera, Inc.	0	4	0	1	0	0	1	2
Fulgent Genetics, Fulgent Genetics	0	3	0	1	0	0	1	2
Juno Genomics, Hangzhou Juno Genomics, Inc	0	3	0	1	0	0	1	2
Counsyl	0	4	0	1	0	0	0	1
Mendelics	0	0	0	0	0	0	1	1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	1	0	0	0	0	1	1
Knight Diagnostic Laboratories, Oregon Health and Sciences University	0	0	0	0	0	0	1	1
ClinGen PAH Variant Curation Expert Panel	0	6	0	0	0	0	1	1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill	0	0	0	0	0	0	1	1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens	0	1	0	0	0	0	1	1
Biochemistry Laboratory of CDMU, Chengde Medical University	0	0	0	1	0	0	0	1
Myriad Genetics, Inc.	0	2	0	0	0	0	1	1
New York Genome Center	0	0	0	0	0	0	1	1
3billion	0	3	0	0	0	0	1	1
DASA	0	0	0	1	0	0	0	1
Neuberg Centre For Genomic Medicine, NCGM	0	0	0	0	0	0	1	1
Neonatal Disease Screening Center, Medical Genetics Center, Huaihua City Maternal and Child Health Care Hospital	0	1	0	1	0	0	0	1

All variants with conflicting interpretations #

HGVS	dbSNP	gnomAD frequency
NM_000277.3(PAH):c.782G>A (p.Arg261Gln)	rs5030849	0.00022
NM_000277.3(PAH):c.728G>A (p.Arg243Gln)	rs62508588	0.00001
NM_000277.3(PAH):c.1092_1094del (p.Leu365del)	rs62516096