ClinVar Miner

Variants in gene SRCAP

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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 not provided total
43 54 757 579 103 2 1413

Condition and significance breakdown #

Total conditions: 17
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 26 13 643 487 99 0 1228
Inborn genetic diseases 4 0 70 46 1 0 121
Floating-Harbor syndrome; Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities 2 0 43 61 3 0 109
SRCAP-related condition 1 1 21 44 3 0 70
Floating-Harbor syndrome 12 6 31 7 3 2 57
not specified 0 0 16 22 21 0 55
Neurodevelopmental disorder 0 28 3 0 0 0 31
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities 7 5 6 0 3 0 21
See cases 1 0 4 0 0 0 5
Autism spectrum disorder 0 0 1 1 0 0 2
Microcephaly 0 0 2 0 0 0 2
46,XY disorder of sex development 0 0 1 0 0 0 1
Developmental disorder 0 0 0 1 0 0 1
Intellectual disability 0 0 1 0 0 0 1
Intellectual disability, moderate 0 1 0 0 0 0 1
Neurodevelopmental delay 1 0 0 0 0 0 1
Rare genetic intellectual disability 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 73
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 11 2 512 445 78 0 1048
Ambry Genetics 4 0 70 46 1 0 121
GeneDx 14 6 69 8 19 0 116
Fulgent Genetics, Fulgent Genetics 1 0 43 61 3 0 108
CeGaT Center for Human Genetics Tuebingen 3 1 27 58 11 0 100
PreventionGenetics, part of Exact Sciences 1 1 21 48 7 0 78
Eurofins Ntd Llc (ga) 2 0 31 9 13 0 55
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 2 29 3 1 1 0 36
Revvity Omics, Revvity 1 1 26 0 0 0 28
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 15 2 0 0 18
Genetic Services Laboratory, University of Chicago 3 0 1 6 4 0 14
OMIM 11 0 0 0 0 0 11
Baylor Genetics 1 0 10 0 0 0 11
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 0 7 0 0 8
Illumina Laboratory Services, Illumina 2 0 3 2 0 0 7
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 7 0 0 7
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 4 1 0 6
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 3 2 0 6
New York Genome Center 0 0 6 0 0 0 6
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 4 0 0 0 5
Mendelics 0 0 0 4 1 0 5
3billion 1 4 0 0 0 0 5
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 4 0 0 0 5
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 0 0 0 3 0 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 2 0 0 1 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 1 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 1 0 1 1 0 0 3
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 0 1 2 0 0 3
Genome-Nilou Lab 0 0 0 0 3 0 3
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 0 0 2 0 2
GeneReviews 0 0 0 0 0 2 2
Service de Génétique Moléculaire, Hôpital Robert Debré 1 1 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 1 0 0 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 0 1 0 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 0 1 0 0 0 2
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 2 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 1 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 1 1 0 0 0 0 2
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 2 0 0 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 1 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 0 0 0 0 0 2
Gharavi Laboratory, Columbia University 0 0 2 0 0 0 2
Institute of Human Genetics, University Hospital Muenster 1 0 1 0 0 0 2
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 2 0 0 0 2
AiLife Diagnostics, AiLife Diagnostics 0 0 2 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 2 0 0 0 2
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 2 0 0 0 2
Institute of Human Genetics, Cologne University 0 0 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 0 1
Department of Medical Genetics, Oslo University Hospital 1 0 0 0 0 0 1
Laboratory of Human Genetics, Universidade de São Paulo 1 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 1
Laboratory of Medical Genetics, University of Torino 0 1 0 0 0 0 1
Molecular Genetics laboratory, Necker Hospital 0 1 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 1 0 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 1 0 0 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 0 1 0 0 0 1
Laboratory of genome editing, Research Centre for Medical Genetics 0 0 1 0 0 0 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 0 1 0 0 0 0 1
Department for BioMedical Research, Inselspital, Bern University Hospital, University of Bern 0 0 1 0 0 0 1

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