ClinVar Miner

Variants studied for infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly

Included ClinVar conditions (1):
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
2 9 43 5 14 69

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
MED17 2 8 33 5 12 56
LOC130006596, MED17 0 0 7 0 2 9
LOC112136095, MED17 0 0 3 0 0 3
EEFSEC 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Natera, Inc. 0 0 32 1 11 44
Fulgent Genetics, Fulgent Genetics 0 3 1 4 0 8
Baylor Genetics 0 0 6 0 0 6
Genome-Nilou Lab 0 0 0 0 6 6
Revvity Omics, Revvity 0 1 4 0 0 5
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 5 5
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 0 5 5
Centogene AG - the Rare Disease Company 0 1 2 0 0 3
OMIM 1 0 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 1
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 1
Breda Genetics srl 0 0 1 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 1

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