ClinVar Miner

Variants studied for hypertrophic cardiomyopathy 11

Included ClinVar conditions (4):
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
7 15 296 231 15 2 554

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ACTC1, GJD2-DT 7 15 293 231 15 1 550
ACTC1 0 0 2 0 0 0 2
ACTC1, GJD2, GOLGA8A, GOLGA8B, LPCAT4, NOP10, NUTM1, SLC12A6 0 0 1 0 0 0 1
CREBBP 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 5 8 238 216 6 0 473
Illumina Laboratory Services, Illumina 0 0 50 15 11 0 76
Fulgent Genetics, Fulgent Genetics 1 0 10 3 0 0 14
OMIM 5 0 0 0 0 0 5
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 0 1 3 0 1 0 5
3billion 1 0 2 0 0 0 3
Baylor Genetics 0 1 1 0 0 0 2
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 2 0 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 1 1 0 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
MVZ Medizinische Genetik Mainz 0 0 2 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 1 0 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria 1 0 0 0 0 0 1
Laboratorio de Analisis Clinicos, Hospital Valle de Los Pedroches 0 1 0 0 0 0 1

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