ClinVar Miner

Variants in gene HMCN1

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 risk factor not provided total
1 0 280 93 94 1 6 440

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic uncertain significance likely benign benign risk factor not provided total
Age-related macular degeneration 1 1 265 66 59 0 0 390
not provided 0 5 29 68 0 6 106
Macular degeneration 0 10 5 0 0 0 15
not specified 0 0 0 7 0 0 7
MACULAR DEGENERATION, AGE-RELATED, 1, SUSCEPTIBILITY TO 0 0 0 0 1 0 1
Malignant tumor of prostate 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 10
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Submitter pathogenic uncertain significance likely benign benign risk factor not provided total
Illumina Clinical Services Laboratory,Illumina 0 274 71 59 0 0 404
Invitae 0 0 29 65 0 0 94
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 1 0 7 0 0 8
NEI Ophthalmic Genomics Laboratory,National Institutes of Health 0 0 0 0 0 6 6
Mendelics 0 1 0 3 0 0 4
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics, Cincinnati Children's Hospital Medical Center 0 0 0 3 0 0 3
OMIM 1 0 0 0 1 0 2
Richard Lifton Laboratory, Yale University School of Medicine 0 2 0 0 0 0 2
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 0 0 0 0 2
Science for Life laboratory, Karolinska Institutet 0 1 0 0 0 0 1

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