ClinVar Miner

Variants in gene GNAQ

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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
8 2 11 17 17 50

Condition and significance breakdown #

Total conditions: 14
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 4 0 3 14 16 35
GNAQ-related disorder 1 0 1 3 0 5
Inborn genetic diseases 0 0 5 0 0 5
not specified 0 0 2 0 3 5
Familial multiple nevi flammei 4 1 0 0 0 4
Sturge-Weber syndrome 3 1 0 0 0 4
Segmental undergrowth associated with capillary malformation 2 0 0 0 0 2
Abnormal cardiovascular system morphology 1 0 0 0 0 1
Angioosteohypertrophic syndrome 1 0 0 0 0 1
Capillary malformation 1 0 0 0 0 1
Capillary malformation; Sturge-Weber syndrome 1 0 0 0 0 1
Hemangiomatosis 1 0 0 0 0 1
Melanoma 0 0 1 0 0 1
See cases 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
GeneDx 0 0 2 0 14 16
Labcorp Genetics (formerly Invitae), Labcorp 0 0 0 11 5 16
Ambry Genetics 0 0 5 0 0 5
Clinical Genomics Laboratory, Washington University in St. Louis 4 1 0 0 0 5
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 5 0 0 0 0 5
PreventionGenetics, part of Exact Sciences 0 0 1 3 0 4
Clinical Genetics, Academic Medical Center 0 0 0 0 3 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 3 0 0 0 0 3
Breakthrough Genomics, Breakthrough Genomics 0 0 0 0 3 3
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 2 0 2
Institute of Medical and Molecular Genetics, Hospital Universitario La Paz 2 0 0 0 0 2
OMIM 1 0 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 1
Revvity Omics, Revvity 0 0 1 0 0 1
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 0 0 1 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 1 0 0 1
CeGaT Center for Human Genetics Tuebingen 0 0 0 1 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 0 1 1
MAGI's Lab - Research, MAGI Group 1 0 0 0 0 1
Dave Chen Lab, Washington University School of Medicine 0 0 1 0 0 1

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