Variants studied for Immunodeficiency-centromeric instability-facial anomalies syndrome 2

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
35	8	152	220	21	1	434

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
ZBTB24	34	8	140	214	20	1	414
MICAL1, ZBTB24	1	0	12	6	1	0	20

Submitter and significance breakdown #

Total submitters: 15

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Invitae	33	5	147	220	20	0	425
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	0	2	0	5	0	7
OMIM	6	0	0	0	0	0	6
Baylor Genetics	1	0	3	0	0	0	4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	0	0	3	0	0	0	3
Revvity Omics, Revvity	0	0	2	0	0	0	2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	2	0	0	0	0	0	2
Centogene AG - the Rare Disease Company	0	1	0	0	0	0	1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	1	0	0	0	0	1
Fulgent Genetics, Fulgent Genetics	0	0	0	0	1	0	1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	1	0	0	0	0	0	1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn	1	0	0	0	0	0	1
3billion	1	0	0	0	0	0	1
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	0	1	1
Neuberg Centre For Genomic Medicine, NCGM	0	1	0	0	0	0	1

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