Variants from KardioGenetik, Herz- und Diabeteszentrum NRW with conflicting interpretations

Minimum review status of the submission from KardioGenetik, Herz- und Diabeteszentrum NRW:	★☆☆☆ criteria provided ★★★☆ reviewed by expert panel ★★★★ practice guideline	Collection method of the submission from KardioGenetik, Herz- und Diabeteszentrum NRW:	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: 2025-03-29

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
86	25	0	9	2	0	7	17

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
KardioGenetik, Herz- und Diabeteszentrum NRW		pathogenic	likely pathogenic	uncertain significance	likely benign
	pathogenic	0	2	1	0
	likely pathogenic	7	0	2	0
	uncertain significance	2	3	0	2

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	12	0	3	1	0	2	6
OMIM	0	6	0	2	0	0	1	3
Institute of Human Genetics, University of Leipzig Medical Center	0	1	0	2	0	0	1	3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	3	0	0	0	0	2	2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	0	0	0	0	0	0	1	1
Illumina Laboratory Services, Illumina	0	2	0	0	1	0	0	1
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute	0	0	0	1	0	0	0	1
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	0	0	0	1	0	0	0	1
Institute of Human Genetics, University of Wuerzburg	0	0	0	1	0	0	0	1
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	0	0	0	0	0	1	1
Clinical Genetics Laboratory, Region Ostergotland	0	0	0	1	0	0	0	1
Juno Genomics, Hangzhou Juno Genomics, Inc	0	1	0	1	0	0	0	1
Research Institute, Imperial College London Diabetes Centre	0	0	0	0	0	0	1	1
Molecular Genetics Laboratory - Cardiogenetics, CHU de Nantes	0	1	0	1	0	0	0	1

All variants with conflicting interpretations #

HGVS	dbSNP	gnomAD frequency
NM_000335.5(SCN5A):c.2074C>A (p.Gln692Lys)	rs45553235	0.00018
NM_003476.5(CSRP3):c.131T>C (p.Leu44Pro)	rs104894205	0.00006
NM_000218.3(KCNQ1):c.1748G>A (p.Arg583His)	rs199473482	0.00004
NM_000419.5(ITGA2B):c.3060+2T>C	rs74664206	0.00004
NM_000257.4(MYH7):c.427C>T (p.Arg143Trp)	rs727503278	0.00003
NM_000238.4(KCNH2):c.3457C>T (p.His1153Tyr)	rs199473035	0.00002
NM_000335.5(SCN5A):c.5224G>A (p.Gly1742Arg)	rs199473305	0.00001
NM_001035.3(RYR2):c.12334G>A (p.Asp4112Asn)	rs1695348814	0.00001
NM_001943.5(DSG2):c.1520G>A (p.Cys507Tyr)	rs121913009	0.00001
NM_001943.5(DSG2):c.3G>A (p.Met1Ile)	rs1021457619	0.00001
NM_000218.3(KCNQ1):c.724G>A (p.Asp242Asn)	rs199472712
NM_000256.3(MYBPC3):c.1652_1656del (p.Ile551fs)	rs730880644
NM_000335.5(SCN5A):c.611C>T (p.Ala204Val)	rs199473559
NM_001134363.3(RBM20):c.2704C>A (p.Pro902Thr)
NM_001927.4(DES):c.735G>C (p.Glu245Asp)	rs267607486
NM_001943.5(DSG2):c.918G>A (p.Trp306Ter)	rs121913007
NM_002474.3(MYH11):c.3757AAG[3] (p.Lys1256del)	rs730880147