ClinVar Miner

Variants studied for hypertrophic cardiomyopathy 25

Included ClinVar conditions (3):
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
21 4 154 72 6 1 248

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
TCAP 21 4 153 72 5 1 246
CASC3, CDC6, CSF3, ERBB2, GRB7, GSDMA, GSDMB, IKZF3, LRRC3C, MED24, MIEN1, MSL1, NR1D1, ORMDL3, PGAP3, PNMT, PSMD3, RAPGEFL1, TCAP, THRA, WIPF2, ZPBP2 0 0 1 0 0 0 1
TMPO 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 17 1 139 69 5 0 231
Fulgent Genetics, Fulgent Genetics 1 2 20 3 0 0 26
Illumina Laboratory Services, Illumina 0 0 15 2 2 0 19
OMIM 3 0 1 0 0 0 4
Baylor Genetics 0 0 1 0 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 0 1
Mendelics 0 0 0 1 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 0 1 0 1
Cardiology unit, Meyer University Hospital 0 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
Neuberg Centre For Genomic Medicine, NCGM 1 0 0 0 0 0 1

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