ClinVar Miner

Submissions for variant NM_000528.4(MAN2B1):c.2002A>T (p.Lys668Ter)

dbSNP: rs2023853280
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV001264125 SCV001442225 likely pathogenic Deficiency of alpha-mannosidase 2019-09-29 criteria provided, single submitter clinical testing

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