Variants from Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea with conflicting interpretations

Minimum review status of the submission from Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea:	★☆☆☆ criteria provided ★★★☆ reviewed by expert panel ★★★★ practice guideline	Collection method of the submission from Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea:	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
70	21	1	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 Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea		pathogenic	likely pathogenic	uncertain significance
	pathogenic	1	8	1
	likely pathogenic	4	0	1
	uncertain significance	0	1	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
Counsyl	0	3	0	3	0	0	0	3
Labcorp Genetics (formerly Invitae), Labcorp	0	11	0	1	0	0	1	2
OMIM	0	11	0	1	0	0	0	1
Baylor Genetics	0	4	0	1	0	0	0	1
Athena Diagnostics	0	0	0	1	0	0	0	1
Revvity Omics, Revvity	0	3	0	0	0	0	1	1
Mendelics	0	3	0	1	0	0	0	1
GeneReviews	0	7	1	0	0	0	0	1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	1	0	1	0	0	0	1
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)	0	0	0	1	0	0	0	1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	0	0	0	1	0	0	0	1
UW Hindbrain Malformation Research Program, University of Washington	0	0	0	1	0	0	0	1
Centre for Mendelian Genomics, University Medical Centre Ljubljana	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
Juno Genomics, Hangzhou Juno Genomics, Inc	0	0	0	1	0	0	0	1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	0	0	0	1	0	0	0	1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens	0	3	0	1	0	0	0	1
Myriad Genetics, Inc.	0	2	0	1	0	0	0	1
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine	0	0	0	0	0	0	1	1
Paris Brain Institute, Inserm - ICM	0	0	0	1	0	0	0	1
Neuberg Centre For Genomic Medicine, NCGM	0	1	0	0	0	0	1	1

All variants with conflicting interpretations #

HGVS	dbSNP	gnomAD frequency
NM_001384732.1(CPLANE1):c.4006C>T (p.Arg1336Trp)	rs367543061	0.00002
NM_000051.4(ATM):c.742C>T (p.Arg248Ter)	rs730881336	0.00001
NM_000784.4(CYP27A1):c.1420C>T (p.Arg474Trp)	rs121908098	0.00001
NM_014363.6(SACS):c.12973C>T (p.Arg4325Ter)	rs762947018	0.00001
NM_020365.5(EIF2B3):c.89T>C (p.Val30Ala)	rs752636698	0.00001
NM_000314.8(PTEN):c.697C>T (p.Arg233Ter)	rs121909219
NM_001100.4(ACTA1):c.739G>C (p.Gly247Arg)	rs1057521117
NM_001127222.2(CACNA1A):c.4988G>A (p.Arg1663Gln)	rs121908247
NM_001348323.3(TRIP12):c.5801C>T (p.Pro1934Leu)
NM_012330.4(KAT6B):c.4911_4921del (p.Val1638fs)	rs199470480
NM_014946.4(SPAST):c.1307C>T (p.Ser436Phe)	rs1553318184
NM_152564.5(VPS13B):c.5734_5735del (p.Ile1912fs)	rs386834098
NM_170675.5(MEIS2):c.934_937del (p.Leu312fs)	rs1595790647
NM_170707.4(LMNA):c.745C>T (p.Arg249Trp)	rs121912496