ClinVar Miner

Variants studied for combined immunodeficiency due to MALT1 deficiency

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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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
16 6 164 168 20 369

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 16 6 140 149 20 326
LOC130062586, MALT1 0 0 23 19 0 42
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: 13
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 14 4 156 166 20 360
Baylor Genetics 0 0 6 0 0 6
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 3 3
Fulgent Genetics, Fulgent Genetics 0 0 2 1 0 3
OMIM 2 0 0 0 0 2
New York Genome Center 0 0 2 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research 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 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 1

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