Variants from Pediatric Department, Xiangya Hospital, Central South University with conflicting interpretations

Minimum review status of the submission from Pediatric Department, Xiangya Hospital, Central South University:	★☆☆☆ criteria provided ★★★☆ reviewed by expert panel ★★★★ practice guideline	Collection method of the submission from Pediatric Department, Xiangya Hospital, Central South 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
61	22	0	10	1	0	6	16

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
Pediatric Department, Xiangya Hospital, Central South University		pathogenic	likely pathogenic	uncertain significance	likely benign
	pathogenic	0	6	0	0
	likely pathogenic	4	0	2	0
	uncertain significance	2	2	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
Invitae	0	6	0	1	0	0	2	3
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine	0	3	0	1	0	0	1	2
OMIM	0	9	0	1	0	0	0	1
Baylor Genetics	0	8	0	1	0	0	0	1
GeneDx	0	0	0	0	0	0	1	1
Revvity Omics, Revvity	0	2	0	0	0	0	1	1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	0	2	0	0	1	0	0	1
Fulgent Genetics, Fulgent Genetics	0	5	0	1	0	0	0	1
RettBASE	0	3	0	1	0	0	0	1
Illumina Laboratory Services, Illumina	0	1	0	1	0	0	0	1
NeuroMeGen, Hospital Clinico Santiago de Compostela	0	0	0	1	0	0	0	1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	0	0	0	0	0	0	1	1
Institute of Human Genetics, University of Leipzig Medical Center	0	4	0	0	0	0	1	1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	0	2	0	1	0	0	0	1
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris	0	0	0	1	0	0	0	1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	2	0	1	0	0	0	1

All variants with conflicting interpretations #

HGVS	dbSNP	gnomAD frequency
NM_004453.4(ETFDH):c.250G>A (p.Ala84Thr)	rs121964954	0.00004
NM_014049.5(ACAD9):c.1237G>A (p.Glu413Lys)	rs149753643	0.00002
NM_001386393.1(PANK2):c.1025A>G (p.Asp342Gly)	rs763496520	0.00001
NM_024120.5(NDUFAF5):c.155A>C (p.Lys52Thr)	rs531254130	0.00001
NM_025136.4(OPA3):c.123C>G (p.Ile41Met)	rs763083098	0.00001
NC_012920.1(MT-ATP6):m.9035T>C	rs1603222000
NC_012920.1(MT-ND3):m.10197G>A	rs267606891
NC_012920.1(MT-TL1):m.3243A>G	rs199474657
NM_001032221.6(STXBP1):c.125CCT[1] (p.Ser43del)	rs796053381
NM_001127222.2(CACNA1A):c.4927G>A (p.Asp1643Asn)	rs1064795531
NM_001127222.2(CACNA1A):c.835C>T (p.Arg279Cys)	rs1555773764
NM_001323289.2(CDKL5):c.163_166del (p.Glu55fs)	rs267608433
NM_001323289.2(CDKL5):c.532C>T (p.Arg178Trp)	rs267608493
NM_006772.3(SYNGAP1):c.928G>A (p.Glu310Lys)	rs1554121206
NM_014362.4(HIBCH):c.439-2A>G	rs1180861300
NM_030632.3(ASXL3):c.3349C>T (p.Arg1117Ter)	rs868044680