ClinVar Miner

Submissions for variant NM_172250.3(MMAA):c.-4G>A

gnomAD frequency: 0.00004  dbSNP: rs374109118
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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. RCV001278246 SCV001465244 uncertain significance Methylmalonic aciduria, cblA type 2020-09-17 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003963171 SCV004783323 likely benign MMAA-related disorder 2022-04-07 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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