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
5 9 94 64 35 2 5 6 2 173

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic likely pathogenic uncertain significance likely benign benign affects association risk factor not provided total
Malignant Melanoma Susceptibility 0 0 33 49 14 0 0 0 0 96
Cutaneous malignant melanoma 5 0 0 59 15 21 0 0 1 0 94
not specified 0 0 0 6 7 0 0 0 0 13
not provided 5 3 3 0 0 0 0 0 2 12
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
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

Submitter and significance breakdown #

Total submitters: 12
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects association risk factor not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 35 49 14 0 0 0 0 98
Invitae 0 0 58 15 21 0 0 0 0 94
PreventionGenetics 0 0 0 6 7 0 0 0 0 13
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 Molecular Biophysics, University of Lodz 0 0 0 0 0 0 0 0 2 2
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
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 1 0 0 0 0 0 0 1

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