ClinVar Miner

Variants studied for developmental delay with autism spectrum disorder and gait instability

Included ClinVar conditions (3):
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
5 8 66 3 5 3 88

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
HERC2 4 8 66 3 5 3 87
GABRG3, HERC2, OCA2 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
Baylor Genetics 0 0 38 0 0 0 38
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 4 0 0 0 6
Fulgent Genetics, Fulgent Genetics 0 0 3 2 0 0 5
New York Genome Center 1 1 3 0 0 0 5
Genome-Nilou Lab 0 0 0 0 5 0 5
MGZ Medical Genetics Center 0 0 2 0 0 0 2
Centogene AG - the Rare Disease Company 0 0 2 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 2 0 0 0 0 2
Mendelics 0 2 0 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 2 0 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 2 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 0 2 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 0 2 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 0 2
OMIM 1 0 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 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
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1
Department of Biochemistry, Faculty of Medicine, University of Khartoum 0 0 1 0 0 0 1
3billion 0 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 1 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1

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