Variants from Center of Excellence for Medical Genomics, Chulalongkorn University with conflicting interpretations

Minimum review status of the submission from Center of Excellence for Medical Genomics, Chulalongkorn University:	★☆☆☆ criteria provided ★★★☆ reviewed by expert panel ★★★★ practice guideline	Collection method of the submission from Center of Excellence for Medical Genomics, Chulalongkorn 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
73	15	0	14	1	0	4	19

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
Center of Excellence for Medical Genomics, Chulalongkorn University		pathogenic	likely pathogenic	uncertain significance	likely benign
	pathogenic	0	6	2	0
	likely pathogenic	8	0	2	0
	uncertain significance	0	0	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
Labcorp Genetics (formerly Invitae), Labcorp	0	8	0	4	1	0	1	6
Genome-Nilou Lab	0	0	0	3	0	0	1	4
OMIM	0	5	0	3	0	0	0	3
Revvity Omics, Revvity	0	0	0	1	0	0	1	2
Illumina Laboratory Services, Illumina	0	0	0	1	0	0	1	2
3billion, Medical Genetics	0	5	0	1	0	0	1	2
Baylor Genetics	0	2	0	0	0	0	1	1
Counsyl	0	0	0	0	0	0	1	1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	0	0	0	1	0	0	0	1
Mendelics	0	3	0	1	0	0	0	1
Center for Medical Genetics Ghent, University of Ghent	0	0	0	1	0	0	0	1
Center of Genomic medicine, Geneva, University Hospital of Geneva	0	1	0	1	0	0	0	1
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	0	0	1	0	0	0	1
Undiagnosed Diseases Network, NIH	0	0	0	1	0	0	0	1
Center for Molecular Medicine, Children’s Hospital of Fudan University	0	0	0	1	0	0	0	1
Juno Genomics, Hangzhou Juno Genomics, Inc	0	1	0	1	0	0	0	1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	0	0	0	1	0	0	0	1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens	0	2	0	1	0	0	0	1
Cavalleri Lab, Royal College of Surgeons in Ireland	0	0	0	1	0	0	0	1
Genetics Laboratory, Department of Biology, Semnan University	0	0	0	1	0	0	0	1

All variants with conflicting interpretations #

HGVS	dbSNP	gnomAD frequency
NM_001999.4(FBN2):c.2638G>A (p.Gly880Ser)	rs555682061	0.00002
NM_001182.5(ALDH7A1):c.1061A>G (p.Tyr354Cys)	rs1471249688	0.00001
NM_001182.5(ALDH7A1):c.1547A>G (p.Tyr516Cys)	rs200102503	0.00001
NM_001182.5(ALDH7A1):c.246+1G>A	rs764588746	0.00001
NM_000138.5(FBN1):c.5699G>T (p.Cys1900Phe)	rs794728237
NM_000158.4(GBE1):c.1561A>T (p.Lys521Ter)	rs773775991
NM_000284.4(PDHA1):c.379C>T (p.Arg127Trp)	rs199959402
NM_000891.3(KCNJ2):c.652C>T (p.Arg218Trp)	rs104894578
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys)	rs1555408401
NM_001127644.2(GABRA1):c.641G>A (p.Arg214His)	rs886039373
NM_001161352.2(KCNMA1):c.3158A>G (p.Asn1053Ser)	rs886039469
NM_001164508.2(NEB):c.23967_23970del (p.Pro7990fs)	rs756384471
NM_001165963.4(SCN1A):c.1178G>A (p.Arg393His)	rs121917927
NM_001182.5(ALDH7A1):c.1439T>C (p.Ile480Thr)	rs886059849
NM_001367721.1(CASK):c.764G>A (p.Arg255His)	rs587783369
NM_001370658.1(BTD):c.550G>A (p.Gly184Arg)
NM_004612.4(TGFBR1):c.722C>T (p.Ser241Leu)	rs111854391
NM_016070.4(MRPS23):c.119C>T (p.Pro40Leu)	rs772721937
NM_172107.4(KCNQ2):c.601C>T (p.Arg201Cys)	rs796052623