ClinVar Miner

Submissions for variant NM_002386.3(MC1R):c.359T>C (p.Ile120Thr) (rs33932559)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center RCV000490361 SCV000267393 uncertain significance Cutaneous malignant melanoma 5 2016-03-18 criteria provided, single submitter reference population
PreventionGenetics,PreventionGenetics RCV000252453 SCV000308867 likely benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000490361 SCV000399950 likely benign Cutaneous malignant melanoma 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 determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae RCV000490361 SCV000648547 benign Cutaneous malignant melanoma 5 2020-12-03 criteria provided, single submitter clinical testing

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