Variants studied for Transcobalamin II deficiency

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
49	8	221	328	45	2	622

Gene and significance breakdown #

Total genes and gene combinations: 2

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
TCN2	48	8	202	310	41	2	581
LOC121853040, TCN2	1	0	19	18	4	0	41

Submitter and significance breakdown #

Total submitters: 21

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Invitae	42	5	178	314	34	0	573
Illumina Laboratory Services, Illumina	0	1	45	12	24	0	82
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	0	2	6	4	0	12
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	1	0	4	0	0	0	5
OMIM	4	0	0	0	0	0	4
Baylor Genetics	0	0	3	0	0	0	3
Revvity Omics, Revvity	1	0	2	0	0	0	3
Mendelics	1	0	0	0	2	0	3
Genome-Nilou Lab	0	0	0	0	3	0	3
Inserm U 954, Faculté de Médecine de Nancy	0	0	0	0	0	2	2
Genome Diagnostics Laboratory, University Medical Center Utrecht	0	0	0	1	0	0	1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital	1	0	0	0	0	0	1
Fulgent Genetics, Fulgent Genetics	0	0	1	0	0	0	1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	0	0	1	0	0	0	1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	1	0	0	0	0	0	1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	0	0	0	1	0	0	1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill	0	0	1	0	0	0	1
Breda Genetics srl	0	1	0	0	0	0	1
3billion	1	0	0	0	0	0	1
Neuberg Centre For Genomic Medicine, NCGM	0	1	0	0	0	0	1
Genomics England Pilot Project, Genomics England	1	0	0	0	0	0	1

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