ClinVar Miner

Variants studied for alpha-actinopathy

Included ClinVar conditions (7):
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 total
73 35 213 44 17 367

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
ACTA1 62 28 81 21 11 193
TPM3 11 7 132 23 6 174

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 43 18 86 31 8 186
Illumina Clinical Services Laboratory,Illumina 0 0 119 13 11 143
OMIM 21 0 0 0 0 21
Baylor Genetics 4 2 5 0 0 11
Mendelics 1 4 0 0 0 5
GeneReviews 4 0 0 0 0 4
Genetic Services Laboratory, University of Chicago 2 1 0 0 0 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 2 0 0 3
Institute of Human Genetics, Klinikum rechts der Isar 1 1 0 0 0 2
Center for Genetic Medicine Research,Children's National Medical Center 0 2 0 0 0 2
Pediatric Department, Peking University First Hospital 2 0 0 0 0 2
NeuroMeGen,Hospital Clinico Santiago de Compostela 1 1 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 1 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 0 1 0 0 2
SIB Swiss Institute of Bioinformatics 0 2 0 0 0 2
Institute of Human Genetics,Cologne University 1 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 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 1

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