ClinVar Miner

Submissions for variant NM_030943.3(AMN):c.1170-6C>T (rs386834164)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000506910 SCV000602477 uncertain significance not specified 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV000050158 SCV001002042 benign Megaloblastic anemia due to inborn errors of metabolism 2019-12-31 criteria provided, single submitter clinical testing
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000050158 SCV000082568 probable-pathogenic Megaloblastic anemia due to inborn errors of metabolism no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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