ClinVar Miner

Submissions for variant NM_002454.3(MTRR):c.904-10del

gnomAD frequency: 0.00001  dbSNP: rs1467919139
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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 RCV001474155 SCV001678323 likely benign Methylcobalamin deficiency type cblE 2024-01-25 criteria provided, single submitter clinical testing

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