Submissions for variant NM_000529.2(MC2R):c.80C>G (p.Pro27Arg)

dbSNP: rs28926178

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000971335	SCV001118976	likely benign	not provided	2019-12-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001124316	SCV001283253	likely benign	Glucocorticoid deficiency 1	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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
PreventionGenetics, part of Exact Sciences	RCV003935581	SCV004752245	benign	MC2R-related disorder	2020-06-17	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital	RCV000581582	SCV000692307	uncertain significance	Glucocorticoid Deficiency	2017-01-06	no assertion criteria provided	clinical testing