ClinVar Miner

Submissions for variant NM_000528.4(MAN2B1):c.1209C>A (p.Arg403=)

gnomAD frequency: 0.00016  dbSNP: rs559827776
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
Invitae RCV000904323 SCV001048835 likely benign Deficiency of alpha-mannosidase 2024-01-30 criteria provided, single submitter clinical testing
Natera, Inc. RCV000904323 SCV001455940 uncertain significance Deficiency of alpha-mannosidase 2020-01-24 no assertion criteria provided clinical testing

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