ClinVar Miner

Submissions for variant NM_022132.5(MCCC2):c.*6A>G

gnomAD frequency: 0.00001  dbSNP: rs1249235767
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Natera, Inc. RCV001279182 SCV001466264 uncertain significance Methylcrotonyl-CoA carboxylase deficiency 2020-08-21 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003928812 SCV004743410 likely benign MCCC2-related disorder 2019-05-15 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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