Variants from Clinic of Clinical Immunology with Stem Cell Bank, Expert Centre for Rare Diseases - PID, University Hospital "Alexandrovska" with conflicting interpretations

Minimum review status of the submission from Clinic of Clinical Immunology with Stem Cell Bank, Expert Centre for Rare Diseases - PID, University Hospital "Alexandrovska":	★☆☆☆ criteria provided ★★★☆ reviewed by expert panel ★★★★ practice guideline	Collection method of the submission from Clinic of Clinical Immunology with Stem Cell Bank, Expert Centre for Rare Diseases - PID, University Hospital "Alexandrovska":	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: 2025-04-29

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	9	0	8	0	0	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
Clinic of Clinical Immunology with Stem Cell Bank, Expert Centre for Rare Diseases - PID, University Hospital "Alexandrovska"		pathogenic	likely pathogenic	uncertain significance
	pathogenic	0	4	1
	likely pathogenic	4	0	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
Department of Pathology and Laboratory Medicine, Sinai Health System	0	2	0	2	0	0	1	3
OMIM	0	6	0	2	0	0	0	2
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	1	0	2	0	0	0	2
Baylor Genetics	0	5	0	1	0	0	0	1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	0	3	0	1	0	0	0	1
Genome Diagnostics Laboratory, University Medical Center Utrecht	0	0	0	1	0	0	0	1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	0	3	0	1	0	0	0	1
Labcorp Genetics (formerly Invitae), Labcorp	0	8	0	1	0	0	0	1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	0	0	0	0	0	1	1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	0	1	0	1	0	0	0	1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	0	0	0	1	0	0	0	1
Undiagnosed Diseases Network, NIH	0	1	0	1	0	0	0	1
Institute of Human Genetics, University of Leipzig Medical Center	0	4	0	1	0	0	0	1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	0	1	0	0	0	0	1	1
Reproductive Health Research and Development, BGI Genomics	0	0	0	1	0	0	0	1
Lifecell International Pvt. Ltd	0	0	0	1	0	0	0	1
3billion	0	3	0	1	0	0	0	1
Payam Genetics Center, General Welfare Department of North Khorasan Province	0	0	0	1	0	0	0	1

All variants with conflicting interpretations #

HGVS	dbSNP	gnomAD frequency
NM_006610.4(MASP2):c.359A>G (p.Asp120Gly)	rs72550870	0.02284
NM_000250.2(MPO):c.2031-2A>C	rs35897051	0.00472
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg)	rs34557412	0.00403
NM_000431.4(MVK):c.1129G>A (p.Val377Ile)	rs28934897	0.00156
NM_000235.4(LIPA):c.894G>A (p.Gln298=)	rs116928232	0.00075
NM_012452.3(TNFRSF13B):c.260T>A (p.Ile87Asn)	rs72553877	0.00034
NM_012452.3(TNFRSF13B):c.311G>A (p.Cys104Tyr)	rs72553879	0.00016
NM_006019.4(TCIRG1):c.1297C>T (p.Gln433Ter)	rs777785526	0.00001