ClinVar Miner

Variants studied for alpha-actinopathy

Included ClinVar conditions (9):
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
117 71 315 189 28 6 689

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ACTA1 104 58 145 104 16 0 403
TPM3 13 13 168 85 10 4 280
ACTA1, LOC122152321 0 0 0 0 2 0 2
ABCB10, ACTA1, AGT, ARV1, C1orf131, C1orf198, CAPN9, COG2, DISC1, DISC2, EGLN1, EXOC8, FAM89A, 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
NEB 0 0 0 0 0 1 1
NEB, RIF1 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 36
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 93 40 180 174 20 0 507
Illumina Laboratory Services, Illumina 0 1 120 13 11 0 145
OMIM 13 0 0 0 0 0 13
Baylor Genetics 4 4 5 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
Genetic Services Laboratory, University of Chicago 2 1 0 0 0 0 3
MGZ Medical Genetics Center 0 1 2 0 0 0 3
Fulgent Genetics, Fulgent Genetics 1 0 0 2 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
Centogene AG - the Rare Disease Company 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 0 1 1 0 0 0 2
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 2 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
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
GenomeConnect, ClinGen 0 0 0 0 0 1 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
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
Institute of Immunology and Genetics Kaiserslautern 0 0 1 0 0 0 1

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