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 0 187 74 10 1 6 269

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic uncertain significance likely benign benign risk factor not provided total
Macular degeneration 0 179 74 0 0 0 253
not provided 0 5 0 3 0 6 14
not specified 0 0 0 7 0 0 7
Age-related macular degeneration 1 1 2 0 0 0 0 3
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: 8
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Submitter pathogenic uncertain significance likely benign benign risk factor not provided total
Illumina Clinical Services Laboratory,Illumina 0 181 74 0 0 0 255
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
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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