ClinVar Miner

Variants studied for autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome

Included ClinVar conditions (2):
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
43 20 206 275 29 2 568

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
STAT1 42 19 205 275 29 2 565
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
IL21R 0 1 0 0 0 0 1
STAT1, STAT4 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 27 15 197 274 28 0 541
OMIM 20 0 0 0 0 0 20
3billion, Medical Genetics 2 0 2 0 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 2 1 1 0 0 0 4
Baylor Genetics 1 0 2 0 0 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 1 1 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 2 0 0 0 3
Illumina Laboratory Services, Illumina 0 1 1 0 0 0 2
Fulgent Genetics, Fulgent Genetics 0 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 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
Pele Pequeno Principe Research Institute, Faculdades Pequeno Principe 0 1 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 0 0 0 1
New York Genome Center 0 0 1 0 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
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 0 0 0 0 1

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