ClinVar Miner

Variants in gene HMCN1

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Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
2 0 2401 1372 185 77 3805

Condition and significance breakdown #

Total conditions: 29
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Condition pathogenic uncertain significance likely benign benign not provided total
not provided 0 1889 1313 183 6 3343
not specified 0 739 32 4 0 775
Age related macular degeneration 1 1 341 70 85 3 472
HMCN1-related disorder 0 4 60 21 0 85
Ovarian serous cystadenocarcinoma 0 0 0 0 11 11
Familial cancer of breast 0 0 0 0 10 10
Melanoma 0 0 0 0 10 10
Thyroid cancer, nonmedullary, 1 0 0 0 0 9 9
Hepatocellular carcinoma 0 0 0 0 6 6
Nonpapillary renal cell carcinoma 0 0 0 0 6 6
Sarcoma 0 0 0 0 5 5
Cervical cancer 0 0 0 0 4 4
Gastric cancer 0 0 0 0 4 4
Malignant tumor of esophagus 0 0 0 0 4 4
Clear cell carcinoma of kidney 0 0 0 0 3 3
Lung cancer 0 0 0 0 3 3
Familial pancreatic carcinoma 0 0 0 0 2 2
Squamous cell carcinoma of the head and neck 0 0 0 0 2 2
Thymoma 0 0 0 0 2 2
Acute myeloid leukemia 0 0 0 0 1 1
Colon adenocarcinoma 0 0 0 0 1 1
Colorectal cancer 0 0 0 0 1 1
MACULAR DEGENERATION, AGE-RELATED, 1, SUSCEPTIBILITY TO 1 0 0 0 0 1
Malignant lymphoma, large B-cell, diffuse 0 0 0 0 1 1
Ovarian cancer 0 0 0 0 1 1
Papillary renal cell carcinoma type 1 0 0 0 0 1 1
Prostate cancer 0 1 0 0 0 1
Uterine carcinosarcoma 0 0 0 0 1 1
Uterine corpus endometrial carcinoma 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 0 1880 1278 175 0 3333
Ambry Genetics 0 738 26 0 0 764
Illumina Laboratory Services, Illumina 0 260 64 59 0 383
Genome-Nilou Lab 0 146 43 81 0 270
Breakthrough Genomics, Breakthrough Genomics 0 8 32 60 0 100
PreventionGenetics, part of Exact Sciences 0 4 60 21 0 85
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 68 68
CeGaT Center for Human Genetics Tuebingen 0 3 33 10 0 46
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 6 0 0 6
NEI Ophthalmic Genomics Laboratory, National Institutes of Health 0 0 0 0 6 6
Department of Pathology and Laboratory Medicine, Sinai Health System 0 5 0 0 0 5
Eurofins Ntd Llc (ga) 0 1 0 4 0 5
Fulgent Genetics, Fulgent Genetics 0 1 4 0 0 5
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 4 0 0 4
Mendelics 0 1 0 3 0 4
GeneDx 0 0 0 3 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 3 3
Clinical Genetics, Academic Medical Center 0 0 2 0 0 2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 2 0 0 2
OMIM 2 0 0 0 0 2
Richard Lifton Laboratory, Yale University School of Medicine 0 2 0 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 0 0 0 1
Dasa 0 1 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 1 0 0 0 1
Science for Life laboratory, Karolinska Institutet 0 1 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 1

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