ClinVar Miner

Submissions for variant NM_000528.4(MAN2B1):c.2298C>T (p.Asn766=)

gnomAD frequency: 0.00003  dbSNP: rs746514019
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001461907 SCV001665817 likely benign Deficiency of alpha-mannosidase 2023-11-17 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001461907 SCV001805932 uncertain significance Deficiency of alpha-mannosidase 2021-07-14 criteria provided, single submitter clinical testing
Natera, Inc. RCV001461907 SCV002086907 likely benign Deficiency of alpha-mannosidase 2021-06-17 no assertion criteria provided clinical testing

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