Variants from Department of Laboratory Medicine, Yonsei University College of Medicine with conflicting interpretations

Minimum review status of the submission from Department of Laboratory Medicine, Yonsei University College of Medicine:	★☆☆☆ criteria provided ★★★☆ reviewed by expert panel ★★★★ practice guideline	Collection method of the submission from Department of Laboratory Medicine, Yonsei University College of Medicine:	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: 2024-03-31

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
92	3	0	12	0	0	3	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
Department of Laboratory Medicine, Yonsei University College of Medicine		pathogenic	likely pathogenic	uncertain significance
	pathogenic	0	2	0
	likely pathogenic	10	0	3

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	2	0	4	0	0	1	5
OMIM	0	2	0	3	0	0	0	3
3billion	0	0	0	1	0	0	1	2
Revvity Omics, Revvity	0	0	0	1	0	0	0	1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital	0	0	0	1	0	0	0	1
MGZ Medical Genetics Center	0	1	0	1	0	0	0	1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	0	0	1	0	0	0	1
Fulgent Genetics, Fulgent Genetics	0	0	0	1	0	0	0	1
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	0	0	1	0	0	0	1
Institute of Medical Genetics, University of Zurich	0	0	0	1	0	0	0	1
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea	0	0	0	0	0	0	1	1
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital	0	0	0	1	0	0	0	1

All variants with conflicting interpretations #

HGVS	dbSNP	gnomAD frequency
NM_199242.3(UNC13D):c.118-308C>T	rs959968589	0.00021
NM_001323289.2(CDKL5):c.2684C>T (p.Pro895Leu)	rs587783157	0.00001
NM_001558.4(IL10RA):c.537G>A (p.Thr179=)	rs1419560997	0.00001
NM_020365.5(EIF2B3):c.89T>C (p.Val30Ala)	rs752636698	0.00001
NM_199242.3(UNC13D):c.1055+1G>A	rs754205110	0.00001
NM_000061.3(BTK):c.842G>A (p.Trp281Ter)	rs2147431031
NM_001040142.2(SCN2A):c.5636T>C (p.Met1879Thr)	rs2105403536
NM_002524.5(NRAS):c.38G>A (p.Gly13Asp)	rs121434596
NM_003334.4(UBA1):c.121A>C (p.Met41Leu)	rs1936307795
NM_004975.4(KCNB1):c.1106G>T (p.Trp369Leu)
NM_004975.4(KCNB1):c.1237G>A (p.Val413Ile)	rs1984243311
NM_004985.5(KRAS):c.37G>T (p.Gly13Cys)	rs121913535
NM_005101.4(ISG15):c.379G>T (p.Glu127Ter)	rs672601312
NM_139276.3(STAT3):c.2144C>T (p.Pro715Leu)	rs1064794957