ClinVar Miner

Submissions for variant NM_002386.4(MC1R):c.488G>A (p.Arg163Gln)

gnomAD frequency: 0.08396  dbSNP: rs885479
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000248045 SCV000308872 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000263355 SCV000399960 benign Melanoma, cutaneous malignant, susceptibility to, 5 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV000263355 SCV001730600 benign Melanoma, cutaneous malignant, susceptibility to, 5 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001683032 SCV001899163 benign not provided 2018-06-22 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 22547573, 30414346, 30531825, 29178624, 11487574, 21052032, 24335900, 22854540, 18366057, 17616515, 11875032, 23711066, 24660985, 23647022, 22464597)
Fulgent Genetics, Fulgent Genetics RCV002500893 SCV002809656 benign Tyrosinase-positive oculocutaneous albinism; Skin/hair/eye pigmentation, variation in, 2; Increased analgesia from kappa-opioid receptor agonist, female-specific; Melanoma, cutaneous malignant, susceptibility to, 5 2022-04-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001683032 SCV005249038 benign not provided criteria provided, single submitter not provided

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