ClinVar Miner

Variants studied for Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
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
31 16 227 247 51 2 548

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
STAT1 30 16 220 247 47 2 536
LOC129935278, STAT1 0 0 2 0 2 0 4
LOC129935279, STAT1 0 0 3 0 1 0 4
LOC129935277, STAT1 0 0 1 0 1 0 2
ANKAR, ASNSD1, C2orf88, COL3A1, COL5A2, GLS, HIBCH, INPP1, MFSD6, MSTN, NAB1, NEMP2, ORMDL1, OSGEPL1, PMS1, SLC40A1, STAT1, STAT4, WDR75 0 0 1 0 0 0 1
STAT1, STAT4 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 12
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 23 16 179 240 27 0 485
Illumina Laboratory Services, Illumina 0 0 46 9 37 0 92
OMIM 6 0 0 0 0 0 6
Baylor Genetics 1 0 4 0 0 0 5
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 1 1 0 0 3
Fulgent Genetics, Fulgent Genetics 0 0 1 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
New York Genome Center 0 0 0 1 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Laboratory of Human Genetics, Chiril Draganiuc Institute of Phthisiopneumology 1 0 0 0 0 0 1

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