ClinVar Miner

Variants in gene ACTG1

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Minimum submission review status: Collection method:
Minimum conflict level:
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 not provided total
24 45 129 296 93 11 517

Condition and significance breakdown #

Total conditions: 18
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Autosomal dominant nonsyndromic hearing loss 20; Baraitser-winter syndrome 2 4 10 51 210 48 1 320
not provided 9 15 59 99 82 9 244
not specified 0 0 12 70 28 0 100
Autosomal dominant nonsyndromic hearing loss 20 10 12 7 0 49 0 76
Baraitser-winter syndrome 2 9 12 7 0 49 0 75
Inborn genetic diseases 2 1 7 1 0 0 11
ACTG1-related condition 0 1 4 0 0 0 5
Lissencephaly 0 2 1 0 0 0 3
Rare genetic deafness 0 3 0 0 0 0 3
Hearing impairment 0 1 1 0 0 0 2
Intellectual disability 0 0 0 2 0 0 2
ACTG1-Related Disorders 0 1 0 0 0 0 1
Baraitser-Winter syndrome 0 0 0 0 0 1 1
Congenital anomaly of kidney and urinary tract 1 0 0 0 0 0 1
Microcephaly 0 1 0 0 0 0 1
Neurodevelopmental delay 1 0 0 0 0 0 1
Nonsyndromic genetic hearing loss 1 0 0 0 0 0 1
See cases 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 58
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 4 9 50 211 47 0 321
GeneDx 6 14 36 88 88 0 232
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 3 9 38 20 0 70
Genome-Nilou Lab 0 0 0 0 49 0 49
CeGaT Center for Human Genetics Tuebingen 3 2 5 22 7 0 39
Genetic Services Laboratory, University of Chicago 2 3 5 14 7 0 31
Eurofins Ntd Llc (ga) 0 0 7 2 6 0 15
OMIM 14 0 0 0 0 0 14
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 3 1 8 0 13
Athena Diagnostics Inc 1 0 1 0 10 0 12
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 1 1 6 4 0 12
Ambry Genetics 2 1 7 1 0 0 11
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 2 6 0 9
UniProtKB/Swiss-Prot 0 0 0 0 0 9 9
3billion 2 3 3 0 0 0 8
Preventiongenetics, part of Exact Sciences 0 1 4 0 0 0 5
Fulgent Genetics, Fulgent Genetics 0 0 0 4 1 0 5
Baylor Genetics 1 2 1 0 0 0 4
MGZ Medical Genetics Center 0 1 2 0 0 0 3
Centogene AG - the Rare Disease Company 1 1 1 0 0 0 3
Mendelics 0 3 0 0 0 0 3
University of Washington Center for Mendelian Genomics, University of Washington 0 2 1 0 0 0 3
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 2 0 0 0 0 3
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 3 0 0 0 3
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 0 0 2 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 0 2 0 3
Revvity Omics, Revvity Omics 0 0 2 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 1 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 1 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 1 1 0 0 0 2
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center 0 1 1 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 2 0 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 0 1
King Laboratory, University of Washington 0 1 0 0 0 0 1
GeneReviews 0 0 0 0 0 1 1
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 0 1 0 0 0 0 1
Department of Genetics, Robert DEBRE University Hospital 1 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 0 0 1 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 1 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 0 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
Undiagnosed Diseases Network, NIH 0 1 0 0 0 0 1
Bruce Lefroy Centre, Murdoch Childrens Research Institute 0 1 0 0 0 0 1
Yale Center for Mendelian Genomics, Yale University 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 1 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 1 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 1
INGEBI, INGEBI / CONICET 1 0 0 0 0 0 1
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital 0 1 0 0 0 0 1
Sangiuolo Lab - Medical Genetics Laboratory, Tor Vergata University 0 1 0 0 0 0 1
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 1 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 0 1 0 0 0 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 1 0 0 0 1

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