ClinVar Miner

Variants studied for Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy

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 total
8 11 13 0 20 49

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign total
MORC2 8 11 12 20 48
NKAP 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance benign total
Genome-Nilou Lab 0 0 0 20 20
Laboratory of Functional Genomics, Research Centre for Medical Genetics 2 4 0 0 6
OMIM 4 0 0 0 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 3 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 0 3 0 3
Baylor Genetics 0 1 1 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 1 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 0 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 1 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 1 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 2 0 2
3billion 1 0 1 0 2
MGZ Medical Genetics Center 0 0 1 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 1 0 0 1
Undiagnosed Diseases Network, NIH 0 1 0 0 1
Breda Genetics srl 1 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 0 0 0 1
New York Genome Center 0 0 1 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 1
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 1 0 0 0 1

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