ClinVar Miner

Submissions for variant NM_030943.3(AMN):c.742C>T (p.Gln248Ter) (rs386834177)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000050172 SCV000082582 probable-pathogenic Megaloblastic anemia due to inborn errors of metabolism no assertion criteria provided not provided Converted during submission to Likely pathogenic.
Inserm U 954, Faculté de Médecine de Nancy RCV000050172 SCV000243930 not provided Megaloblastic anemia due to inborn errors of metabolism no assertion provided not provided

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