ClinVar Miner

Submissions for variant NM_002454.3(MTRR):c.333T>C (p.Ile111=)

dbSNP: rs2126675587
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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 RCV002072450 SCV002321230 likely benign Methylcobalamin deficiency type cblE 2021-08-08 criteria provided, single submitter clinical testing

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