ClinVar Miner

Submissions for variant NM_000528.4(MAN2B1):c.231G>A (p.Trp77Ter)

dbSNP: rs1555710070
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669543 SCV000794304 likely pathogenic Deficiency of alpha-mannosidase 2017-10-06 criteria provided, single submitter clinical testing
Baylor Genetics RCV000669543 SCV005060726 pathogenic Deficiency of alpha-mannosidase 2024-03-08 criteria provided, single submitter clinical testing

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