ClinVar Miner

Variants in gene NDE1

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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
11 2 113 70 34 204

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 4 0 45 54 32 126
Lissencephaly 4 7 1 43 5 10 64
Inborn genetic diseases 0 0 35 2 0 37
not specified 0 0 11 10 5 26
NDE1-related disorder 2 0 1 7 2 12
Lissencephaly, Recessive 0 0 4 1 0 5
NDE1-related microhydranencephaly 3 1 1 0 0 5
NDE1-related microhydranencephaly; Lissencephaly 4 0 0 4 0 0 4
Intellectual disability 0 0 1 1 0 2

Submitter and significance breakdown #

Total submitters: 29
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
GeneDx 3 0 16 23 25 67
Labcorp Genetics (formerly Invitae), Labcorp 1 0 19 36 7 63
Illumina Laboratory Services, Illumina 1 0 38 6 10 55
Ambry Genetics 0 0 35 2 0 37
Genetic Services Laboratory, University of Chicago 2 0 12 6 2 22
Eurofins Ntd Llc (ga) 1 0 12 0 1 14
Breakthrough Genomics, Breakthrough Genomics 0 0 1 2 11 14
PreventionGenetics, part of Exact Sciences 1 0 1 7 2 11
Athena Diagnostics 1 0 3 0 2 6
CeGaT Center for Human Genetics Tuebingen 0 0 1 2 3 6
OMIM 5 0 0 0 0 5
Baylor Genetics 2 0 2 0 0 4
Fulgent Genetics, Fulgent Genetics 0 0 4 0 0 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 1 2 0 0 4
Revvity Omics, Revvity 0 0 2 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 2 0 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 1 1 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 1 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 1 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
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 0 1 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 1
Human Genetics Section, Sidra Medicine 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 1
Regional Center For Medical Genetics Timis, Louis Turcanu Emergency Hospital for Children Timisoara 0 0 1 0 0 1

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