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
15 10 119 44 50 196

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 2 5 54 4 21 86
Primary autosomal recessive microcephaly 1 13 4 37 0 9 63
not specified 0 0 10 30 33 62
Primary Microcephaly, Recessive 0 0 41 12 8 61
Abnormality of brain morphology 0 1 0 0 0 1
Global developmental delay; Primary microcephaly 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Genetic Services Laboratory, University of Chicago 5 2 36 18 20 81
Illumina Clinical Services Laboratory,Illumina 0 0 42 12 8 62
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 38 6 14 58
GeneDx 2 3 10 12 22 49
Athena Diagnostics Inc 0 1 2 0 15 18
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 0 0 0 0 8 8
OMIM 7 0 0 0 0 7
GeneReviews 4 0 0 0 3 7
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 3 0 0 3
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 2 1 0 3
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 2 0 0 0 2
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 1 0 1 2
Hehr Laboratory,Center for Human Genetics - University of Regensburg 0 1 0 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
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

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