ClinVar Miner

Submissions for variant NM_000528.4(MAN2B1):c.1027-6del

dbSNP: rs1384911711
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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 RCV002180238 SCV002341615 benign Deficiency of alpha-mannosidase 2021-10-22 criteria provided, single submitter clinical testing

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