ClinVar Miner

Submissions for variant NM_015702.3(MMADHC):c.741A>G (p.Glu247=)

gnomAD frequency: 0.00062  dbSNP: rs146820547
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002105699 SCV002410300 likely benign Methylmalonic aciduria and homocystinuria type cblD 2024-11-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003923617 SCV004742974 likely benign MMADHC-related disorder 2024-07-10 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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