ClinVar Miner

Submissions for variant NM_000528.4(MAN2B1):c.1779A>G (p.Pro593=)

gnomAD frequency: 0.00003  dbSNP: rs146778702
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000902709 SCV001047143 likely benign Deficiency of alpha-mannosidase 2025-01-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV000902709 SCV001455936 uncertain significance Deficiency of alpha-mannosidase 2020-01-24 no assertion criteria provided clinical testing

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