ClinVar Miner

Variants studied for hypertrophic cardiomyopathy 12

Included ClinVar conditions (2):
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
17 14 208 91 11 1 327

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 not provided total
CSRP3 16 14 207 91 11 1 325
CSRP3, IGSF22, LDHA, LDHAL6A, LDHC, MRGPRX1, MRGPRX2, PTPN5, SPTY2D1, TMEM86A, TSG101, UEVLD, ZDHHC13 1 0 1 0 0 0 2

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 14 9 178 87 10 0 298
Fulgent Genetics, Fulgent Genetics 0 0 33 1 1 0 35
Illumina Laboratory Services, Illumina 0 0 25 3 3 0 31
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 2 4 0 0 0 6
OMIM 4 0 0 0 0 0 4
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 1 1 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 0 2 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 1 1
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 0 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1
3billion 0 0 1 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 1 0 0 0 0 1
KardioGenetik, Herz- und Diabeteszentrum NRW 0 1 0 0 0 0 1
Regional Center For Medical Genetics Timis, Louis Turcanu Emergency Hospital for Children Timisoara 0 0 1 0 0 0 1

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