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
53 79 1494 874 108 56 2445

Condition and significance breakdown #

Total conditions: 44
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 33 22 1044 735 100 0 1865
Floating-Harbor syndrome; Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities 2 4 355 83 3 0 447
Inborn genetic diseases 8 3 331 94 1 0 437
not specified 0 0 60 73 23 0 150
SRCAP-related disorder 1 3 26 51 4 0 85
Floating-Harbor syndrome 17 11 33 9 3 2 71
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities 8 9 10 1 3 0 31
Neurodevelopmental disorder 0 28 3 0 0 0 31
Ovarian serous cystadenocarcinoma 0 0 0 0 0 16 16
Familial cancer of breast 0 0 0 0 0 5 5
Intellectual disability 0 0 3 2 0 0 5
Malignant tumor of esophagus 0 0 0 0 0 5 5
Melanoma 0 0 0 0 0 5 5
See cases 1 0 4 0 0 0 5
Cervical cancer 0 0 0 0 0 4 4
Monogenic short statue 1 0 3 0 0 0 4
Sarcoma 0 0 0 0 0 4 4
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 4 4
Acute myeloid leukemia 0 0 0 0 0 2 2
Autism spectrum disorder 0 0 1 1 0 0 2
Clear cell carcinoma of kidney 0 0 0 0 0 2 2
Colon adenocarcinoma 0 0 0 0 0 2 2
Gastric cancer 0 0 0 0 0 2 2
Malignant tumor of urinary bladder 0 0 0 0 0 2 2
Microcephaly 0 0 2 0 0 0 2
Papillary renal cell carcinoma type 1 0 0 0 0 0 2 2
Uterine corpus endometrial carcinoma 0 0 0 0 0 2 2
46,XY disorder of sex development 0 0 1 0 0 0 1
Cleft lip/palate 0 0 1 0 0 0 1
Congenital heart disease 0 0 0 1 0 0 1
Developmental delay 1 0 0 0 0 0 1
Developmental disorder 0 0 0 1 0 0 1
Epilepsy 0 1 0 0 0 0 1
Familial prostate cancer 0 0 0 0 0 1 1
Growth failure in early childhood 0 0 1 0 0 0 1
Hepatocellular carcinoma 0 0 0 0 0 1 1
Lung cancer 0 0 0 0 0 1 1
Moderate intellectual disability 0 1 0 0 0 0 1
Multiple congenital anomalies/dysmorphic syndrome 0 0 0 1 0 0 1
Neurodevelopmental delay 1 0 0 0 0 0 1
Non-syndromic intellectual disability 0 0 1 0 0 0 1
Rare genetic intellectual disability 0 1 0 0 0 0 1
Squamous cell carcinoma of the head and neck 0 0 0 0 0 1 1
Uterine carcinosarcoma 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 96
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 15 3 787 646 83 0 1534
Fulgent Genetics, Fulgent Genetics 1 3 352 82 3 0 441
Ambry Genetics 8 3 331 94 1 0 437
GeneDx 18 11 175 9 19 0 232
CeGaT Center for Human Genetics Tuebingen 3 2 43 130 6 0 184
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 0 58 48 1 0 110
PreventionGenetics, part of Exact Sciences 1 2 26 55 8 0 92
Eurofins Ntd Llc (ga) 2 0 31 9 13 0 55
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 54 54
Breakthrough Genomics, Breakthrough Genomics 0 0 3 21 23 0 47
Revvity Omics, Revvity 1 2 40 0 0 0 43
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 2 29 3 1 1 0 36
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 2 13 0 0 0 15
Genetic Services Laboratory, University of Chicago 3 0 1 6 4 0 14
Baylor Genetics 1 0 11 0 0 0 12
OMIM 11 0 0 0 0 0 11
3billion 2 7 0 0 0 0 9
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 1 4 4 0 0 9
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 1 7 1 0 9
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 0 7 0 0 8
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 5 2 0 0 8
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
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 4 2 0 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
Institute of Human Genetics, University of Leipzig Medical Center 3 0 1 1 0 0 5
Juno Genomics, Hangzhou Juno Genomics, Inc 3 1 1 0 0 0 5
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 4 0 0 0 5
Mendelics 0 0 0 4 1 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 0 1 1 0 0 5
Dasa 2 1 1 0 0 0 4
NHS Central & South Genomic Laboratory Hub 1 0 3 0 0 0 4
Clinical Genetics Laboratory, Skane University Hospital Lund 1 0 2 0 0 0 3
Department of Endocrinology, Genetics and Metabolism, Beijing Children’s Hospital, Capital Medical University 2 1 0 0 0 0 3
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 0 1 2 0 0 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 2 0 0 1 0 0 3
Genome-Nilou Lab 0 0 0 0 3 0 3
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 0 0 0 3 0 3
MVZ Martinsried, Medicover Genetics 1 1 1 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 0 3 0 0 0 3
AiLife Diagnostics, AiLife Diagnostics 0 0 2 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
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 0 1 0 0 0 2
Centre for Medical Genetics, Mumbai 0 0 0 2 0 0 2
Centre of Medical 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
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 1 0 0 0 2
GeneReviews 0 0 0 0 0 2 2
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 0 2 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 1 1 0 0 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 0 0 2 0 2
Gharavi Laboratory, Columbia University 0 0 2 0 0 0 2
Illumina Laboratory Services, Illumina 2 0 0 0 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 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
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 0 0 0 0 0 2
Service de Génétique Moléculaire, Hôpital Robert Debré 1 1 0 0 0 0 2
Variantyx, Inc. 1 1 0 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
Children's Health, Guangyuan Central Hospital 1 0 0 0 0 0 1
Department for BioMedical Research, Inselspital, Bern University Hospital, University of Bern 0 0 1 0 0 0 1
Department of Clinical Genetics, Aarhus University Hospital 0 0 1 0 0 0 1
Department of Medical Genetics, Oslo University Hospital 1 0 0 0 0 0 1
Department of Pediatric Genetics, Istanbul University - Cerrahpasa 1 0 0 0 0 0 1
Dubai Health Genomic Medicine Center, Dubai Health 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 1 0 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
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 0 1 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 1 0 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 0 0 1
Institute of Human Genetics, Cologne University 0 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 0 0 0 0 1
Laboratory of Human Genetics, Universidade de São Paulo 1 0 0 0 0 0 1
Laboratory of Medical Genetics, University of Torino 0 1 0 0 0 0 1
Laboratory of genome editing, Research Centre for Medical Genetics 0 0 1 0 0 0 1
MVZ Medizinische Genetik Mainz 0 1 0 0 0 0 1
MVZ Praenatalmedizin und Genetik Nuernberg 0 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 1 0 0 0 0 0 1
Molecular Genetics laboratory, Necker Hospital 0 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 0 0 0 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 0 1 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 1

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