ClinVar Miner

Variants studied for Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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
48 27 366 435 27 890

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 total
QARS1 46 27 341 410 25 837
LOC129936736, QARS1 2 0 24 18 2 45
MIR6890, QARS1 0 0 0 7 0 7
ALS2CL, ARIH2, ARIH2OS, ATRIP, CAMP, CCDC12, CCDC51, CCR1, CCR2, CCR3, CCR5, CCR9, CCRL2, CDC25A, CELSR3, COL7A1, CRIPTO, CSPG5, CXCR6, DALRD3, DHX30, ELP6, FBXW12, FYCO1, IMPDH2, IP6K2, KIF9, KLHL18, LARS2, LIMD1, LRRC2, LTF, LZTFL1, MAP4, MIR191, MYL3, NBEAL2, NCKIPSD, NDUFAF3, NME6, P4HTM, PFKFB4, PLXNB1, PRKAR2A, PRSS50, PTH1R, PTPN23, QARS1, QRICH1, RTP3, SACM1L, SCAP, SETD2, SHISA5, SLC25A20, SLC26A6, SLC6A20, SMARCC1, SPINK8, TMA7, TMEM89, TMIE, TREX1, UCN2, UQCRC1, WDR6, XCR1, ZNF589 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 43 18 352 434 26 873
Revvity Omics, Revvity 0 1 10 0 0 11
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 3 2 1 6
Fulgent Genetics, Fulgent Genetics 0 0 6 0 0 6
Institute of Human Genetics, University of Leipzig Medical Center 1 3 2 0 0 6
New York Genome Center 0 1 4 0 0 5
OMIM 4 0 0 0 0 4
Baylor Genetics 0 1 3 0 0 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 1 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 1 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 1 0 0 0 2
Daryl Scott Lab, Baylor College of Medicine 0 0 2 0 0 2
Genome-Nilou Lab 0 0 0 0 2 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 1
Breda Genetics srl 0 0 1 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 1
Medical Genetic Diagnosis and Therapy Center, Fujian Medical University 0 1 0 0 0 1

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