ClinVar Miner

Variants studied for qualitative or quantitative defects of telethonin

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
22 10 155 72 7 1 253

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 22 10 154 72 6 1 251
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: 26
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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 16 2 3 0 19
OMIM 5 0 1 0 0 0 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 2 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 0 1 0 2
Neuberg Centre For Genomic Medicine, NCGM 2 0 0 0 0 0 2
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
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 0 0 0 0 1
Evolutionary and Medical Genetics Laboratory, Center for Cellular and Molecular Biology 0 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 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
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1
Tehran Medical Genetics Laboratory 0 1 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 1 0 0 0 0 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
3billion 0 1 0 0 0 0 1
DASA 1 0 0 0 0 0 1

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