ClinVar Miner

Submissions for variant NM_000528.4(MAN2B1):c.764-1G>C

dbSNP: rs1555709533
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670394 SCV000795239 likely pathogenic Deficiency of alpha-mannosidase 2017-11-01 criteria provided, single submitter clinical testing
Baylor Genetics RCV000670394 SCV005060727 pathogenic Deficiency of alpha-mannosidase 2024-03-08 criteria provided, single submitter clinical testing

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