ClinVar Miner

Variants in gene MC1R

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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 affects association risk factor not provided total
6 9 196 82 65 2 5 7 2 307

Condition and significance breakdown #

Total conditions: 16
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Condition pathogenic likely pathogenic uncertain significance likely benign benign affects association risk factor not provided total
Cutaneous malignant melanoma 5 0 0 185 68 65 0 0 1 0 283
not provided 5 3 10 22 0 0 0 0 2 36
not specified 0 0 0 6 7 0 0 0 0 13
Malignant Melanoma Susceptibility 0 0 4 2 0 0 0 0 0 6
Skin and Hair Hypopigmentation 0 6 0 0 0 0 0 0 0 6
Tyrosinase-positive oculocutaneous albinism 0 6 0 0 0 0 0 0 0 6
Tyrosinase-positive oculocutaneous albinism; Skin/hair/eye pigmentation, variation in, 2; Increased analgesia from kappa-opioid receptor agonist, female-specific; Cutaneous malignant melanoma 5 0 0 6 0 0 0 0 0 0 6
Skin/hair/eye pigmentation 2, red hair/fair skin 0 0 0 0 0 0 4 0 0 4
Uv-induced skin damage, susceptibility to 0 0 0 0 0 0 0 3 0 3
Increased analgesia from kappa-opioid receptor agonist, female-specific 0 0 0 0 0 2 0 0 0 2
Malignant tumor of breast 0 0 0 1 1 0 0 0 0 2
OCULOCUTANEOUS ALBINISM, TYPE II, MODIFIER OF 0 0 0 0 0 0 0 2 0 2
Skin/hair/eye pigmentation 2, blond hair/fair skin 0 0 0 0 0 0 2 0 0 2
Melanoma 0 0 0 0 0 0 0 1 0 1
Skin/hair/eye pigmentation, variation in, 2 1 0 0 0 0 0 0 0 0 1
bilateral breast cancer 0 0 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects association risk factor not provided total
Invitae 0 0 124 42 25 0 0 0 0 191
Illumina Clinical Services Laboratory,Illumina 0 0 77 38 45 0 0 0 0 160
PreventionGenetics, PreventionGenetics 0 0 0 6 7 0 0 0 0 13
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 7 4 0 0 0 0 0 11
GeneDx 5 3 2 0 0 0 0 0 0 10
OMIM 0 0 0 0 0 2 5 6 0 9
Fulgent Genetics,Fulgent Genetics 0 0 6 0 0 0 0 0 0 6
University of Washington Center for Mendelian Genomics, University of Washington 0 6 0 0 0 0 0 0 0 6
Yale Center for Mendelian Genomics,Yale University 0 6 0 0 0 0 0 0 0 6
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 2 4 0 0 0 0 0 6
Center of Medical Genetics and Primary Health Care 0 0 1 1 1 0 0 0 0 3
Department of Molecular Biophysics, University of Lodz 0 0 0 0 0 0 0 0 2 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 0 0 0 0 1 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 0 0 0 0 1
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 1 0 0 0 0 0 0 0 0 1

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