ClinVar Miner

Submissions for variant NM_000528.4(MAN2B1):c.358G>A (p.Glu120Lys)

dbSNP: rs2024208039
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001252564 SCV001428321 likely pathogenic Deficiency of alpha-mannosidase 2019-01-01 no assertion criteria provided clinical testing

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