Variants from Istanbul Faculty of Medicine, Istanbul University with conflicting interpretations

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

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
75	6	0	5	1	0	6	11

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
Istanbul Faculty of Medicine, Istanbul University		pathogenic	likely pathogenic	uncertain significance	likely benign
	pathogenic	0	3	4	0
	likely pathogenic	2	0	1	0
	uncertain significance	0	1	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	4	0	2	1	0	2	5
Baylor Genetics	0	0	0	2	0	0	0	2
Counsyl	0	0	0	0	0	0	2	2
OMIM	0	1	0	0	0	0	1	1
Natera, Inc.	0	0	0	0	0	0	1	1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	0	0	1	0	0	0	1
Fulgent Genetics, Fulgent Genetics	0	1	0	0	0	0	1	1
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	0	0	0	0	0	1	1
Illumina Laboratory Services, Illumina	0	0	0	0	0	0	1	1
CeGaT Center for Human Genetics Tuebingen	0	0	0	0	0	0	1	1
Leiden Open Variation Database	0	1	0	1	0	0	0	1

All variants with conflicting interpretations #

HGVS	dbSNP	gnomAD frequency
NM_005055.5(RAPSN):c.133G>A (p.Val45Met)	rs121909254	0.00006
NM_005529.7(HSPG2):c.12353C>T (p.Thr4118Met)	rs200150908	0.00006
NM_001012339.3(DNAJC21):c.983+1G>A	rs368148362	0.00002
NM_000135.4(FANCA):c.2941T>C (p.Cys981Arg)	rs191943709	0.00001
NM_005055.5(RAPSN):c.493G>A (p.Val165Met)	rs761584017	0.00001
NM_000135.4(FANCA):c.128T>G (p.Leu43Ter)	rs1158456786
NM_000135.4(FANCA):c.240_241del (p.Cys80_Asp81delinsTer)	rs1363946483
NM_000135.4(FANCA):c.2492TCT[1] (p.Phe832del)	rs1310756192
NM_000435.3(NOTCH3):c.1903C>T (p.Arg635Cys)	rs753801611
NM_001113525.2(ZNF276):c.*1314C>T	rs2062071481
NM_005151.4(USP14):c.233_236del (p.Leu78fs)	rs2144233064