ClinVar Miner

Submissions for variant NM_019888.3(MC3R):c.429C>G (p.Tyr143Ter)

dbSNP: rs148382606
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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 RCV000964153 SCV001111340 likely benign not provided 2024-08-04 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000964153 SCV004236317 uncertain significance not provided 2019-02-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003970843 SCV004781444 likely benign MC3R-related disorder 2022-02-04 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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