Variants studied for Hypertrophic cardiomyopathy 10

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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
16	11	229	148	20	5	407

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
MYL2	12	9	178	116	12	2	316
LOC114827850, MYL2	4	2	51	32	8	3	91

Submitter and significance breakdown #

Total submitters: 27

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Labcorp Genetics (formerly Invitae), Labcorp	12	4	214	143	19	0	392
Illumina Laboratory Services, Illumina	0	1	16	4	2	0	23
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	1	0	0	0	8	0	9
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	1	0	0	3	2	0	6
OMIM	5	0	0	0	0	0	5
Leiden Muscular Dystrophy (MYL2)	0	0	0	0	0	5	5
Genome Diagnostics Laboratory, University Medical Center Utrecht	1	0	0	0	3	0	4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	1	2	1	0	0	0	4
Institute of Human Genetics, University of Leipzig Medical Center	0	2	1	0	0	0	3
Mendelics	1	1	0	0	0	0	2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	0	2	0	0	0	2
Fulgent Genetics, Fulgent Genetics	1	0	1	0	0	0	2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	0	1	1	0	0	0	2
3billion, Medical Genetics	1	0	1	0	0	0	2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	0	0	0	1	0	1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	0	0	1	0	0	0	1
MGZ Medical Genetics Center	0	0	1	0	0	0	1
Centogene AG - the Rare Disease Company	0	0	1	0	0	0	1
Garg Lab, Nationwide Children's Hospital	1	0	0	0	0	0	1
Center for Medical Genetics Ghent, University of Ghent	0	1	0	0	0	0	1
Knight Diagnostic Laboratories, Oregon Health and Sciences University	0	0	1	0	0	0	1
Laboratory of Genetics and Molecular Cardiology, University of São Paulo	0	1	0	0	0	0	1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues	0	0	1	0	0	0	1
Juno Genomics, Hangzhou Juno Genomics, Inc	0	0	1	0	0	0	1
Clinical Genomics Laboratory, Stanford Medicine	0	0	1	0	0	0	1
Genome-Nilou Lab	0	0	0	0	1	0	1
ICMR Centre for Advanced Research and Excellence in Heart Failure, Sree Chitra Tirunal Institute for Medical Sciences & Technology, KERALA, INDIA	0	0	1	0	0	0	1

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