ClinVar Miner

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

Included ClinVar conditions (1):
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
41 25 357 383 26 822

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 40 25 332 362 24 774
LOC129936736, QARS1 1 0 24 15 2 41
MIR6890, QARS1 0 0 0 6 0 6
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: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 37 16 345 382 25 805
Revvity Omics, Revvity 0 1 10 0 0 11
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
OMIM 4 0 0 0 0 4
Baylor Genetics 0 1 3 0 0 4
New York Genome Center 0 1 3 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 1 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
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
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 0 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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