ClinVar Miner

Submissions for variant NM_002454.3(MTRR):c.1488G>A (p.Leu496=)

dbSNP: rs1158860588
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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 RCV002031017 SCV002313871 likely benign Methylcobalamin deficiency type cblE 2023-08-30 criteria provided, single submitter clinical testing

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