Variants from Gene Discovery Core-Manton Center, Boston Children's Hospital with conflicting interpretations

Minimum review status of the submission from Gene Discovery Core-Manton Center, Boston Children's Hospital:	★☆☆☆ criteria provided ★★★☆ reviewed by expert panel ★★★★ practice guideline	Collection method of the submission from Gene Discovery Core-Manton Center, Boston 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: 2024-03-31

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
49	4	0	5	0	0	2	7

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
Gene Discovery Core-Manton Center, Boston Children's Hospital		pathogenic	likely pathogenic	uncertain significance
	pathogenic	0	2	0
	likely pathogenic	3	0	1
	uncertain significance	1	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
OMIM	0	2	0	1	0	0	1	2
Baylor Genetics	0	1	0	1	0	0	1	2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	0	0	1	0	0	1	2
Undiagnosed Diseases Network, NIH	0	0	0	1	0	0	1	2
Institute of Human Genetics, University of Leipzig Medical Center	0	0	0	2	0	0	0	2
GeneDx	0	0	0	1	0	0	0	1
Revvity Omics, Revvity	0	0	0	1	0	0	0	1
MGZ Medical Genetics Center	0	0	0	0	0	0	1	1
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München	0	0	0	1	0	0	0	1
Service de Génétique Moléculaire, Hôpital Robert Debré	0	0	0	0	0	0	1	1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin	0	0	0	0	0	0	1	1
Wangler Lab, Baylor College of Medicine	0	0	0	0	0	0	1	1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine	0	0	0	0	0	0	1	1
Genome-Nilou Lab	0	0	0	1	0	0	0	1
3billion	0	0	0	1	0	0	0	1
DASA	0	0	0	1	0	0	0	1

All variants with conflicting interpretations #

HGVS	dbSNP	gnomAD frequency
NM_018122.5(DARS2):c.172C>G (p.Arg58Gly)	rs375700548	0.00003
NM_018129.4(PNPO):c.686G>A (p.Arg229Gln)	rs773450573	0.00003
NM_003221.4(TFAP2B):c.917C>T (p.Thr306Met)	rs1232197674	0.00001
NM_001190274.2(FBXO11):c.2145G>C (p.Lys715Asn)	rs1572764737
NM_001220.5(CAMK2B):c.416C>T (p.Pro139Leu)	rs1554389088
NM_004859.4(CLTC):c.2669C>T (p.Pro890Leu)
NM_152296.5(ATP1A3):c.385G>A (p.Val129Met)	rs1555865401