ClinVar Miner

Variants studied for Autoimmune lymphoproliferative syndrome type 1

Coded as:
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
59 22 278 164 57 7 561

Gene and significance breakdown #

Total genes and gene combinations: 9
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
FAS 53 20 167 82 27 0 337
FASLG 2 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, IFIT1, IFIT1B, IFIT2, IFIT3, IFIT5, LIPA, LIPF, LIPJ, LIPK, LIPM, LIPN, RNLS, SLC16A12, STAMBPL1 0 0 1 0 0 0 1
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
ITK 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 54 14 222 141 24 0 455
Illumina Laboratory Services, Illumina 0 0 47 16 44 0 107
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
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 1 2 0 3
Fulgent Genetics, Fulgent Genetics 0 1 1 0 0 0 2
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
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 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
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 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, Suma Genomics 0 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1

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