ClinVar Miner

Submissions for variant NM_002454.3(MTRR):c.369C>T (p.Phe123=)

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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 RCV003507564 SCV004248492 likely benign Methylcobalamin deficiency type cblE 2023-11-12 criteria provided, single submitter clinical testing

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