ClinVar Miner

Submissions for variant NM_172250.3(MMAA):c.1044A>G (p.Leu348=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003033708 SCV003317527 likely benign Methylmalonic aciduria, cblA type 2023-10-19 criteria provided, single submitter clinical testing

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