ClinVar Miner

Submissions for variant NM_000528.4(MAN2B1):c.1370T>A (p.Val457Glu)

dbSNP: rs864621985
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000206913 SCV000243975 uncertain significance Deficiency of alpha-mannosidase 2012-06-07 no assertion criteria provided literature only

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