ClinVar Miner

Variants studied for Sengers syndrome

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 total
38 14 139 97 23 295

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 total
AGK 32 14 119 96 23 268
SLC25A4 5 0 17 1 0 23
AGK, AGK-DT 0 0 1 0 0 1
AGK, AGK-DT, LOC129999511 0 0 1 0 0 1
AGK, BRAF, CLEC5A, DENND11, MGAM, MRPS33, OR9A4, PRSS37, SSBP1, TAS2R3, TAS2R38, TAS2R4, TAS2R5, TMEM178B, WEE2 1 0 0 0 0 1
LOC129993501, SLC25A4 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 17 6 70 89 18 200
Illumina Laboratory Services, Illumina 0 0 58 8 6 72
Fulgent Genetics, Fulgent Genetics 0 0 17 1 0 18
OMIM 13 0 0 0 0 13
Baylor Genetics 3 0 1 0 0 4
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 1 0 0 0 3
Department of Heart Center, Qingdao Women and Children's Hospital 1 2 0 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 1 0 0 0 2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 2 0 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 1
Hacettepe Genetic Diseases Diagnosis Center, Hacettepe University Faculty of Medicine 0 1 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 1 0 0 0 1
Diagnostic and Treatment Unit for Congenital Metabolic Diseases, Hopital Clínico Universitario de Santiago de Compostela (CHUS) 1 0 0 0 0 1

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