Variants studied for Combined immunodeficiency due to MALT1 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	total
17	9	167	196	21	405

Gene and significance breakdown #

Total genes and gene combinations: 3

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
MALT1	17	9	143	175	21	360
LOC130062586, MALT1	0	0	23	21	0	44
ALPK2, ATP8B1, CCBE1, CPLX4, FECH, GRP, LMAN1, MALT1, MC4R, MIR122, NARS1, NEDD4L, PMAIP1, RAX, SEC11C, ZNF532	0	0	1	0	0	1

Submitter and significance breakdown #

Total submitters: 15

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Labcorp Genetics (formerly Invitae), Labcorp	15	5	158	194	21	393
Baylor Genetics	0	0	6	0	0	6
Fulgent Genetics, Fulgent Genetics	0	1	2	1	0	4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	0	0	0	3	3
OMIM	2	0	0	0	0	2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	0	0	2	0	0	2
New York Genome Center	0	0	2	0	0	2
Mayo Clinic Laboratories, Mayo Clinic	0	0	1	0	0	1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	1	0	0	0	1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	0	0	1	0	0	1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital	0	0	0	1	0	1
3billion, Medical Genetics	0	1	0	0	0	1
Aleixo Muise Laboratory, Hospital For Sick Children	0	1	0	0	0	1
Neuberg Centre For Genomic Medicine, NCGM	0	0	1	0	0	1
Molecular Genetics, Royal Melbourne Hospital	0	0	1	0	0	1

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