ClinVar Miner

Submissions for variant NM_015702.3(MMADHC):c.600C>T (p.Leu200=)

gnomAD frequency: 0.00008  dbSNP: rs754142876
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000179493 SCV000231750 uncertain significance not provided 2015-05-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001392148 SCV001593786 likely benign Methylmalonic aciduria and homocystinuria type cblD 2024-10-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003977477 SCV004788239 likely benign MMADHC-related disorder 2021-04-16 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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