ClinVar Miner

Submissions for variant NM_022132.5(MCCC2):c.1674C>T (p.Phe558=)

gnomAD frequency: 0.00004  dbSNP: rs768354167
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001443590 SCV001646567 likely benign 3-methylcrotonyl-CoA carboxylase 2 deficiency 2023-09-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001443590 SCV002797801 likely benign 3-methylcrotonyl-CoA carboxylase 2 deficiency 2021-08-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001279181 SCV001466263 uncertain significance Methylcrotonyl-CoA carboxylase deficiency 2020-08-21 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003938595 SCV004750559 likely benign MCCC2-related disorder 2019-07-02 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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