ClinVar Miner

Submissions for variant NM_000529.2(MC2R):c.429C>T (p.Thr143=)

gnomAD frequency: 0.00127  dbSNP: rs138421793
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000900290 SCV001044601 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001123214 SCV001282030 uncertain significance 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
CeGaT Center for Human Genetics Tuebingen RCV000900290 SCV004137738 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing MC2R: BP4, BP7

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