ClinVar Miner

Variants in gene ACTG1

Minimum submission review status: Collection method:
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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
17 20 45 130 53 9 231

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 4 9 27 55 30 9 129
not specified 0 0 12 79 28 0 108
Deafness, autosomal dominant 20; Baraitser-Winter Syndrome 2 0 0 4 15 23 0 42
Baraitser-Winter Syndrome 2 6 5 2 0 0 0 13
Deafness, autosomal dominant 20 8 4 0 0 0 0 11
Inborn genetic diseases 1 0 2 0 0 0 3
Rare genetic deafness 0 3 0 0 0 0 3
Hypertrophic cardiomyopathy 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GeneDx 1 9 11 65 36 0 122
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 3 9 42 20 0 74
Invitae 0 0 3 39 27 0 69
Genetic Services Laboratory, University of Chicago 2 2 5 11 7 0 27
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 7 4 6 0 17
OMIM 14 0 0 0 0 0 14
Athena Diagnostics Inc 1 0 1 0 9 0 11
UniProtKB/Swiss-Prot 0 0 0 0 0 9 9
GeneReviews 6 0 0 0 0 0 6
CeGaT Praxis fuer Humangenetik Tuebingen 3 0 3 0 0 0 6
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 1 3 0 5
Ambry Genetics 1 0 2 0 0 0 3
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 3 0 0 0 3
Institute of Human Genetics,Klinikum rechts der Isar 0 2 0 0 0 0 2
Baylor Genetics 0 1 0 0 0 0 1
Mendelics 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
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 0 0 1 0 0 1
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 0 1 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 0 1
Bruce Lefroy Centre, Murdoch Childrens Research Institute 0 1 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

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