ClinVar Miner

Submissions for variant NM_002386.3(MC1R):c.515G>T (p.Ser172Ile) (rs376670171)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000354729 SCV000399962 likely benign Malignant Melanoma Susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000473808 SCV000556942 benign Cutaneous malignant melanoma 5 2016-10-10 criteria provided, single submitter clinical testing
Yale Center for Mendelian Genomics,Yale University RCV000662301 SCV000784629 likely pathogenic Tyrosinase-positive oculocutaneous albinism 2015-09-22 no assertion criteria provided literature only

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