ClinVar Miner

Submissions for variant NM_000529.2(MC2R):c.80C>G (p.Pro27Arg) (rs28926178)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000971335 SCV001118976 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001124316 SCV001283253 likely benign ACTH resistance 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.
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

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