ClinVar Miner

Submissions for variant NM_002454.3(MTRR):c.1026T>G (p.Leu342=)

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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 RCV003507913 SCV004334795 likely benign Methylcobalamin deficiency type cblE 2023-10-19 criteria provided, single submitter clinical testing

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