Submissions for variant NM_002386.4(MC1R):c.900C>T (p.Phe300=)

gnomAD frequency: 0.01887  dbSNP: rs3212367

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000248356	SCV000308875	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000457546	SCV000399976	likely benign	Melanoma, cutaneous malignant, susceptibility to, 5	2017-04-28	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000457546	SCV000556937	benign	Melanoma, cutaneous malignant, susceptibility to, 5	2025-01-11	criteria provided, single submitter	clinical testing
GeneDx	RCV001610624	SCV001832702	benign	not provided	2018-06-22	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001610624	SCV003799541	benign	not provided	2023-10-11	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001610624	SCV005215897	likely benign	not provided		criteria provided, single submitter	not provided