ClinVar Miner

Submissions for variant NM_000528.4(MAN2B1):c.1063A>C (p.Thr355Pro)

gnomAD frequency: 0.00001  dbSNP: rs864621992
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV000206997 SCV005655510 likely pathogenic Deficiency of alpha-mannosidase 2024-02-16 criteria provided, single submitter clinical testing
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000206997 SCV000243991 uncertain significance Deficiency of alpha-mannosidase 2012-06-07 no assertion criteria provided literature only

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