ClinVar Miner

Variants in gene combination ASPM, LOC129932155

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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 1 14 16 1 30

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 0 0 4 15 1 17
Inborn genetic diseases 1 0 7 0 0 8
Microcephaly 5, primary, autosomal recessive 1 1 4 1 1 7
ASPM-related disorder 0 0 1 0 1 2
not specified 0 0 0 1 1 2
Intellectual disability 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 0 0 2 14 1 17
Ambry Genetics 1 0 7 0 0 8
Illumina Laboratory Services, Illumina 0 0 3 0 1 4
Genetic Services Laboratory, University of Chicago 1 0 1 0 1 3
GeneDx 0 0 0 1 1 2
PreventionGenetics, part of Exact Sciences 0 0 1 0 1 2
Eurofins Ntd Llc (ga) 0 0 1 0 1 2
CeGaT Center for Human Genetics Tuebingen 0 0 0 2 0 2
Genome-Nilou Lab 0 0 1 1 0 2
Athena Diagnostics 0 0 0 0 1 1
Service de Génétique Moléculaire, Hôpital Robert Debré 0 1 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 0 1 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 1 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 0 0 1
Breakthrough Genomics, Breakthrough Genomics 0 0 0 1 0 1

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