ClinVar Miner

Submissions for variant NM_000528.4(MAN2B1):c.1437G>A (p.Ala479=)

dbSNP: rs139435774
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001431583 SCV001634341 likely benign Deficiency of alpha-mannosidase 2025-01-26 criteria provided, single submitter clinical testing

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