ClinVar Miner

Variants in gene MCPH1

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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
16 12 151 63 69 254

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Primary autosomal recessive microcephaly 1 13 5 102 7 25 149
not provided 3 5 61 33 45 134
not specified 0 0 10 31 34 64
Primary Microcephaly, Recessive 0 0 1 0 1 2
Abnormality of brain morphology 0 1 0 0 0 1
Congenital cerebellar hypoplasia; Clubfoot; Microcephaly; Intrauterine growth retardation; Hypoplasia of the brainstem; Aplasia/Hypoplasia of the cerebellar vermis; Atrophy of the spinal cord; Cerebral hypoplasia; Congenital microcephaly 0 1 0 0 0 1
Global developmental delay; Primary microcephaly 0 1 0 0 0 1
Primary autosomal recessive microcephaly 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 80 7 25 112
Genetic Services Laboratory, University of Chicago 4 3 33 20 21 81
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 38 6 14 58
Invitae 1 0 0 29 27 57
GeneDx 2 3 10 12 22 49
Athena Diagnostics Inc 0 1 5 0 17 23
Fulgent Genetics,Fulgent Genetics 1 1 9 0 0 11
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 9 9
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 0 9 9
PreventionGenetics,PreventionGenetics 0 0 0 0 8 8
OMIM 7 0 0 0 0 7
GeneReviews 4 0 0 0 3 7
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 4 2 0 6
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 5 0 0 5
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics, Cincinnati Children's Hospital Medical Center 0 0 1 0 1 2
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 2 0 0 0 2
Hehr Laboratory,Center for Human Genetics - University of Regensburg 0 1 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 0 1 0 0 0 1
Lineagen, Inc 0 0 1 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Department of Molecular and Human Genetics, Baylor College of Medicine 1 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 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 0 1 0 0 0 1

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