ClinVar Miner

Variants studied for autoimmune lymphoproliferative syndrome type 1

Included ClinVar conditions (4):
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
71 21 276 164 57 7 567

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
FAS 64 19 167 82 27 0 345
FASLG 3 0 96 70 22 7 183
ACTA2, FAS 1 2 6 8 5 0 22
CASP10 0 0 6 4 3 0 13
ANKRD45, C1orf105, CENPL, DARS2, DNM3, DNM3OS, FASLG, GAS5, KLHL20, METTL13, MIR199A2, MIR214, MIR3120, MYOC, PIGC, PRDX6, RC3H1, SERPINC1, SLC9C2, SUCO, TNFSF18, TNFSF4, VAMP4, ZBTB37 1 0 1 0 0 0 2
ACTA2, ANKRD22, CH25H, FAS, IFIT2, IFIT3, LIPA, LIPM, LIPN, STAMBPL1 1 0 0 0 0 0 1
ACTA2, CH25H, FAS, LIPA 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 53 14 221 141 24 0 453
Illumina Laboratory Services, Illumina 0 0 47 16 44 0 107
OMIM 18 0 0 0 0 0 18
Mendelics 4 0 3 4 2 0 13
GeneReviews 0 0 0 0 0 7 7
Revvity Omics, Revvity 0 0 5 0 0 0 5
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 4 1 0 0 5
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 2 1 0 3
Fulgent Genetics, Fulgent Genetics 0 1 2 0 0 0 3
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 1 2 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 1 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 2 0 0 2
Genome-Nilou Lab 0 0 0 0 2 0 2
Baylor Genetics 0 0 1 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 0 1
Undiagnosed Diseases Network, NIH 0 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 0 1
Area of Clinical and Molecular Genetics, Hospital Universitario Vall de Hebron 0 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Genomics Facility, Ludwig-Maximilians-Universität München 0 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 0 1
3billion 0 1 0 0 0 0 1
Suma Genomics 0 1 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 0 0 1

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