Variants from Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University with conflicting interpretations

Minimum review status of the submission from Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University:	★☆☆☆ criteria provided ★★★☆ reviewed by expert panel ★★★★ practice guideline	Collection method of the submission from Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin 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: 2024-12-01

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
27	6	0	9	0	1	5	14

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
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University		pathogenic	likely pathogenic	uncertain significance	affects
	pathogenic	0	5	1	1
	likely pathogenic	4	0	3	0
	uncertain significance	0	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
Labcorp Genetics (formerly Invitae), Labcorp	0	3	0	2	0	0	2	4
Baylor Genetics	0	4	0	2	0	0	0	2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	0	0	1	0	0	1	2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	0	4	0	2	0	0	0	2
Solve-RD Consortium	0	0	0	2	0	0	0	2
OMIM	0	6	0	1	0	0	0	1
Genetic Services Laboratory, University of Chicago	0	1	0	1	0	0	0	1
Revvity Omics, Revvity	0	0	0	0	0	0	1	1
MGZ Medical Genetics Center	0	1	0	1	0	0	0	1
Counsyl	0	2	0	1	0	0	0	1
Natera, Inc.	0	0	0	1	0	0	0	1
Fulgent Genetics, Fulgent Genetics	0	2	0	0	0	0	1	1
RettBASE	0	1	0	0	0	0	1	1
Neurogenetics Laboratory - MEYER, AOU Meyer	0	0	0	1	0	0	0	1
Institute of Human Genetics, University of Leipzig Medical Center	0	2	0	1	0	0	0	1
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital	0	1	0	1	0	0	0	1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn	0	0	0	0	0	0	1	1
Pediatrics, All India Institute of Medical Sciences, New Delhi	0	0	0	0	0	1	0	1
Neonatal Disease Screening Center, Medical Genetics Center, Huaihua City Maternal and Child Health Care Hospital	0	0	0	1	0	0	0	1

All variants with conflicting interpretations #

HGVS	dbSNP	gnomAD frequency
NM_000016.6(ACADM):c.50G>A (p.Arg17His)	rs17848070	0.00004
NM_000016.6(ACADM):c.449_452del (p.Thr150fs)	rs786204642
NM_000026.4(ADSL):c.-21T>A
NM_000202.8(IDS):c.998C>T (p.Ser333Leu)	rs104894853
NM_001110792.2(MECP2):c.416C>T (p.Pro139Leu)	rs267608387
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter)	rs61749721
NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[1] (p.2300DQL[1])	rs587784440
NM_001356.5(DDX3X):c.874C>T (p.Arg292Ter)	rs1555953488
NM_001958.5(EEF1A2):c.271G>A (p.Asp91Asn)	rs886041197
NM_006593.4(TBR1):c.1588_1594dup (p.Thr532fs)	rs869312704
NM_007325.5(GRIA3):c.2098G>A (p.Glu700Lys)	rs2045826576
NM_014946.4(SPAST):c.1775T>A (p.Ile592Lys)	rs1553321237
NM_133433.4(NIPBL):c.6647ATA[2] (p.Asn2218del)	rs587784022
NM_145207.3(AFG2A):c.2159C>T (p.Ala720Val)