Variants from Institute for Genomic Medicine, Nationwide Children's Hospital with conflicting interpretations

Minimum review status of the submission from Institute for Genomic Medicine, Nationwide Children's Hospital:	★☆☆☆ criteria provided ★★★☆ reviewed by expert panel ★★★★ practice guideline	Collection method of the submission from Institute for Genomic Medicine, Nationwide Children's Hospital:	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: 2024-12-01

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
16	8	0	4	0	0	7	10

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
Institute for Genomic Medicine, Nationwide Children's Hospital		pathogenic	uncertain significance	benign
	pathogenic	0	1	0
	likely pathogenic	4	5	2
	uncertain significance	1	0	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
OMIM	0	1	0	4	0	0	0	4
Labcorp Genetics (formerly Invitae), Labcorp	0	3	0	0	0	0	3	3
Revvity Omics, Revvity	0	2	0	0	0	0	2	2
Mendelics	0	0	0	0	0	0	2	2
Illumina Laboratory Services, Illumina	0	1	0	0	0	0	2	2
Genome-Nilou Lab	0	1	0	0	0	0	2	2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	1	0	0	0	0	1	1
GeneDx	0	2	0	0	0	0	1	1
MGZ Medical Genetics Center	0	0	0	0	0	0	1	1
Natera, Inc.	0	1	0	0	0	0	1	1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	1	0	0	0	0	1	1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	0	0	0	0	0	0	1	1
Color Diagnostics, LLC DBA Color Health	0	0	0	0	0	0	1	1
Department of Pathology and Laboratory Medicine, Sinai Health System	0	0	0	0	0	0	1	1
Juno Genomics, Hangzhou Juno Genomics, Inc	0	0	0	0	0	0	1	1
Molecular Genetics, Royal Melbourne Hospital	0	0	0	0	0	0	1	1
All of Us Research Program, National Institutes of Health	0	1	0	0	0	0	1	1

All variants with conflicting interpretations #

HGVS	dbSNP	gnomAD frequency
NM_000053.4(ATP7B):c.3045G>A (p.Leu1015=)	rs1801248	0.02598
NM_000275.3(OCA2):c.1441G>A (p.Ala481Thr)	rs74653330	0.00630
NM_016955.4(SEPSECS):c.846G>A (p.Leu282=)	rs146539065	0.00004
NM_001100.4(ACTA1):c.809-10C>A	rs1659945481
NM_001457.4(FLNB):c.5375_5377del (p.Glu1792del)	rs1470699812
NM_004333.6(BRAF):c.1794_1796dup (p.Thr599dup)	rs727502902
NM_007255.3(B4GALT7):c.398A>G (p.Gln133Arg)	rs1370937766
NM_020791.4(TAOK1):c.2203del (p.Arg735fs)	rs2150772064
NM_032608.7(MYO18B):c.6660_6670del (p.Arg2220fs)	rs756408696
NM_032608.7(MYO18B):c.6768del (p.Leu2257fs)	rs1569308524