Variants from Neurology Department of Pediatrics, The Third Affiliated Hospital of Zhengzhou University with conflicting interpretations

Minimum review status of the submission from Neurology Department of Pediatrics, The Third Affiliated Hospital of Zhengzhou University:	★☆☆☆ criteria provided ★★★☆ reviewed by expert panel ★★★★ practice guideline	Collection method of the submission from Neurology Department of Pediatrics, The Third Affiliated Hospital of Zhengzhou 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: 2025-03-05

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
15	1	0	1	0	1	6	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
Neurology Department of Pediatrics, The Third Affiliated Hospital of Zhengzhou University		pathogenic	likely pathogenic	uncertain significance
	pathogenic	0	1	0
	likely pathogenic	0	0	1
	uncertain significance	4	3	0
	association not found	1	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
UW Hindbrain Malformation Research Program, University of Washington	0	0	0	0	0	0	3	3
Revvity Omics, Revvity	0	0	0	1	0	0	1	2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	0	1	0	0	0	1	1	2
OMIM	0	0	0	0	0	0	1	1
Baylor Genetics	0	2	0	0	0	0	1	1
Molecular Diagnostics Laboratory, Seoul National University Hospital	0	0	0	0	0	0	1	1
Labcorp Genetics (formerly Invitae), Labcorp	0	0	0	0	0	1	0	1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	0	0	0	0	0	1	1
Fulgent Genetics, Fulgent Genetics	0	1	0	0	0	0	1	1
Illumina Laboratory Services, Illumina	0	1	0	0	0	0	1	1
SIB Swiss Institute of Bioinformatics	0	0	0	0	0	0	1	1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	0	0	0	0	0	1	0	1
Clinical Immunology, Karolinska University Hospital	0	0	0	0	0	1	0	1
Institute for Human Genetics, University Hospital Essen	0	0	0	0	0	0	1	1
3billion, Medical Genetics	0	0	0	0	0	1	0	1
Neuberg Centre For Genomic Medicine, NCGM	0	0	0	0	0	0	1	1
Dr.Nikuei Genetic Center	0	0	0	0	0	0	1	1

All variants with conflicting interpretations #

HGVS	dbSNP	gnomAD frequency
NM_001134831.2(AHI1):c.2168G>A (p.Arg723Gln)	rs121434351	0.00003
NM_001384732.1(CPLANE1):c.8140C>T (p.Arg2714Ter)	rs147416429	0.00002
NM_001134831.2(AHI1):c.2174G>A (p.Trp725Ter)	rs587783013	0.00001
NM_006940.6(SOX5):c.1411C>T (p.Arg471Ter)	rs1592099852
NM_015272.5(RPGRIP1L):c.3594G>A (p.Trp1198Ter)	rs1567800920
NM_017780.4(CHD7):c.4015C>T (p.Arg1339Ter)	rs1563644066
NM_020320.5(RARS2):c.1A>G (p.Met1Val)	rs774923951
NM_020320.5(RARS2):c.25A>G (p.Ile9Val)