ClinVar Miner

Submissions for variant NM_000254.3(MTR):c.387C>T (p.Ala129=)

dbSNP: rs575706892
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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 RCV002089342 SCV002432789 likely benign Methylcobalamin deficiency type cblG 2024-04-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003978786 SCV004793883 likely benign MTR-related disorder 2019-04-11 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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