ClinVar Miner

Variants studied for Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures

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
7 13 10 0 0 30

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
CACNA1C 7 12 10 29
CACNA1A, LOC126862864 0 1 0 1

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance total
OMIM 4 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 1 3
Pediatric Department, Xiangya Hospital, Central South University 0 2 1 3
Illumina Laboratory Services, Illumina 0 1 1 2
Clinical Genomics Laboratory, Washington University in St. Louis 1 1 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 1 1 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 2
MVZ Medizinische Genetik Mainz 0 2 0 2
Institute of Human Genetics, University of Goettingen 0 1 0 1
Mendelics 1 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 1
Institute of Human Genetics, Heidelberg University 0 1 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 1
New York Genome Center 0 0 1 1
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 0 1 0 1
3billion, Medical Genetics 0 0 1 1

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