ClinVar Miner

Variants in gene combination CCNH, RASA1

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Minimum submission review status: Collection method:
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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
140 45 371 419 58 977

Condition and significance breakdown #

Total conditions: 17
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Capillary malformation-arteriovenous malformation syndrome 83 25 292 311 27 738
not provided 40 7 24 65 31 165
Cardiovascular phenotype 5 2 48 71 3 129
Capillary malformation-arteriovenous malformation 1 21 4 38 16 10 88
Parkes Weber syndrome 0 0 16 19 2 37
RASA1-related condition 5 6 4 11 2 28
not specified 4 0 1 6 7 18
Basal cell carcinoma, susceptibility to, 1; Capillary malformation-arteriovenous malformation 1 5 0 1 1 0 7
Inborn genetic diseases 1 0 4 1 0 6
Angioosteohypertrophic syndrome 3 0 0 0 0 3
Basal cell carcinoma, somatic 3 0 0 0 0 3
See cases 2 0 0 0 0 2
Vascular malformation 2 0 0 0 0 2
Basal cell carcinoma, susceptibility to, 1 0 1 0 0 0 1
Capillary infantile hemangioma 1 0 0 0 0 1
Cerebral venous angioma; Hydrops fetalis 0 0 1 0 0 1
Hereditary hemorrhagic telangiectasia 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 39
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 85 25 293 315 27 745
Ambry Genetics 6 2 52 72 3 135
GeneDx 26 4 14 54 29 127
Illumina Laboratory Services, Illumina 0 0 30 22 10 54
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 13 1 3 8 8 33
PreventionGenetics, part of Exact Sciences 5 6 4 11 2 28
CeGaT Center for Human Genetics Tuebingen 3 0 1 6 3 13
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 10 0 1 0 0 11
OMIM 7 0 0 0 0 7
Fulgent Genetics, Fulgent Genetics 5 0 1 1 0 7
Revvity Omics, Revvity 1 0 5 0 0 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 1 0 0 0 5
Medical Genetics Laboratory, Aldo Moro University of Bari 3 0 0 0 0 3
Baylor Genetics 1 1 0 0 0 2
Centogene AG - the Rare Disease Company 0 1 1 0 0 2
Eurofins Ntd Llc (ga) 0 0 1 0 1 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 2 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 0 2 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 1 0 0 1
Mendelics 0 0 0 0 1 1
Bionano Laboratories 0 0 1 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 1
ISCA Site 6 1 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 1 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 1 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 0 1 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 1
Center for Reproductive Medicine, Peking University Third Hospital 0 0 1 0 0 1
Laboratorio de Genética Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain), Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain) 1 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 1

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