ClinVar Miner

Submissions for variant NM_002454.3(MTRR):c.216T>C (p.Phe72=)

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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 RCV003831901 SCV004639338 likely benign Methylcobalamin deficiency type cblE 2022-12-31 criteria provided, single submitter clinical testing

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