ClinVar Miner

Variants studied for Familial hypertrophic cardiomyopathy 1

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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 total
52 55 99 17 22 230

Gene and significance breakdown #

Total genes and gene combinations: 21
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
MYH7 40 48 23 2 2 104
MYLK2 0 0 48 11 18 75
MYBPC3 10 0 9 1 0 20
MHRT, MYH7 1 4 3 0 1 7
TNNT2 0 1 5 0 0 6
ACTN2 0 0 2 0 0 2
MYH6 1 0 1 0 0 2
CACNA1C 0 1 0 0 0 1
CAV3 0 0 1 0 0 1
CSRP3 0 0 1 0 0 1
LAMA4 0 0 1 0 0 1
LDB3 0 0 1 0 0 1
LOC114827850, MYL2 0 0 0 1 0 1
MYL2 0 0 1 0 0 1
MYL3 0 1 0 0 0 1
NEXN 0 0 1 0 0 1
SGCD 0 0 0 1 0 1
TCAP 0 0 0 0 1 1
TNNI3 0 0 1 0 0 1
TPM1 0 0 1 0 0 1
TTN 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 29 10 42 5 2 88
Invitae 0 0 47 8 18 73
Laboratory of Genetics and Molecular Cardiology,University of São Paulo 0 38 1 0 0 39
OMIM 30 0 0 0 0 30
Phosphorus, Inc. 5 3 3 0 0 11
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 1 1 2 4
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 2 2 0 0 0 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 1 1 0 0 4
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 3 0 3
Illumina Clinical Services Laboratory,Illumina 0 1 2 0 0 3
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 3 0 3
Center for Medical Genetics Ghent,University of Ghent 1 1 0 0 0 2
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 1 1 0 0 2
Fulgent Genetics,Fulgent Genetics 0 0 1 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 1 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 1 0 0 1
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 0 1 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 1 0 0 0 1

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