ClinVar Miner

Variants in gene ACTG1

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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
15 15 43 101 40 9 195

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not specified 0 0 13 72 27 0 103
not provided 1 9 25 34 22 9 99
Deafness, autosomal dominant 20; Baraitser-Winter Syndrome 2 0 0 3 4 4 0 11
Baraitser-Winter Syndrome 2 6 3 1 0 0 0 10
Deafness, autosomal dominant 20 8 2 0 0 0 0 9
Inborn genetic diseases 1 0 2 0 0 0 3
Nonsyndromic hearing loss and deafness 0 2 0 0 0 0 2

Submitter and significance breakdown #

Total submitters: 19
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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 2 9 35 18 0 64
Genetic Services Laboratory, University of Chicago 2 2 6 10 7 0 27
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 7 4 6 0 17
OMIM 14 0 0 0 0 0 14
Invitae 0 0 2 4 4 0 10
UniProtKB/Swiss-Prot 0 0 0 0 0 9 9
GeneReviews 6 0 0 0 0 0 6
Athena Diagnostics Inc 0 0 0 0 3 0 3
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 1 1 1 0 3
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
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 2 0 0 0 2
Baylor Miraca Genetics Laboratories, 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
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
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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