ClinVar Miner

Variants studied for melanoma, cutaneous malignant, susceptibility to, 8

Included ClinVar conditions (4):
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
31 10 410 243 13 2 1 703

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
MITF 31 10 406 242 13 1 1 697
LOC107988030, MITF 0 0 3 1 0 0 0 4
LOC107988042, MITF 0 0 1 0 0 0 0 1
TYR 0 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 15
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Labcorp Genetics (formerly Invitae), Labcorp 31 9 397 241 12 0 0 690
Fulgent Genetics, Fulgent Genetics 1 0 24 1 0 0 0 26
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 1 0 11 0 0 0 0 12
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 3 4 0 0 7
OMIM 0 0 0 0 0 2 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 2 0 0 0 0 2
Baylor Genetics 1 0 0 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 0 0 1
Illumina Laboratory Services, Illumina 1 0 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 1 0 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 1 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 1 0 0 0 0 0 0 1

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