ClinVar Miner

Submissions for variant NM_000529.2(MC2R):c.318C>T (p.Ile106=)

gnomAD frequency: 0.00155  dbSNP: rs147706299
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000361669 SCV000407742 uncertain significance Glucocorticoid Deficiency 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000881598 SCV001024784 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000881598 SCV004137739 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing MC2R: BP4, BP7

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