ClinVar Miner

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

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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 RCV003629331 SCV004373377 likely benign Methylcobalamin deficiency type cblG 2024-02-23 criteria provided, single submitter clinical testing

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