ClinVar Miner

Variants studied for alpha-actinopathy

Included ClinVar conditions (12):
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
131 83 343 214 29 6 763

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ACTA1 116 68 161 117 17 0 449
TPM3 14 15 180 97 10 4 307
ACTA1, LOC122152321 0 0 0 0 2 0 2
ABCB10, ACTA1, AGT, ARV1, C1orf198, CAPN9, COG2, DISC1, DISC2, EGLN1, EXOC8, FAM89A, FSAF1, GALNT2, GNPAT, NUP133, PGBD5, SPRTN, TAF5L, TRIM67, TSNAX, TTC13, URB2 0 0 1 0 0 0 1
KBTBD13 0 0 1 0 0 0 1
MYPN 1 0 0 0 0 0 1
NEB 0 0 0 0 0 1 1
NEB, RIF1 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 48
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 98 41 205 197 20 0 561
Illumina Laboratory Services, Illumina 0 1 120 13 11 0 145
ClinGen Congenital Myopathies Variant Curation Expert Panel, ClinGen 11 8 3 2 5 0 29
Baylor Genetics 4 4 6 0 0 0 14
OMIM 13 0 0 0 0 0 13
Harry Perkins Institute Of Medical Research, University Of Western Australia 3 5 2 0 0 0 10
Mendelics 2 5 0 0 0 0 7
GeneReviews 0 0 0 0 0 4 4
Fulgent Genetics, Fulgent Genetics 2 0 0 2 0 0 4
Genetic Services Laboratory, University of Chicago 2 1 0 0 0 0 3
MGZ Medical Genetics Center 0 1 2 0 0 0 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 2 0 0 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 2 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 1 0 2 0 0 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 2 1 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 0 3 0 0 0 3
Muscle and Diseases Team, Institut de Génétique et Biologie Moléculaire et Cellulaire 3 0 0 0 0 0 3
Centogene AG - the Rare Disease Company 0 2 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 2 0 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 1 0 0 0 0 2
Center for Genetic Medicine Research, Children's National Medical Center 0 2 0 0 0 0 2
Pediatric Department, Peking University First Hospital 2 0 0 0 0 0 2
NeuroMeGen, Hospital Clinico Santiago de Compostela 1 1 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 1 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 2 0 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 0 2
3billion, Medical Genetics 1 1 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Institute of Human Genetics, Cologne University 1 0 0 0 0 0 1
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 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 1 0 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 0 1
Institute for Genomic Medicine, Nationwide Children's Hospital 0 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 0 1
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 0 1 0 0 0 0 1
Precision Medical Center, Wuhan Children's Hospital 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
DASA 1 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 0 1 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 0 1 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 0 1
Dr.Nikuei Genetic Center 0 1 0 0 0 0 1

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