ClinVar Miner

Submissions for variant NM_000528.4(MAN2B1):c.2999T>C (p.Phe1000Ser)

dbSNP: rs864621991
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000206935 SCV004191867 likely pathogenic Deficiency of alpha-mannosidase 2023-08-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000206935 SCV005655486 likely pathogenic Deficiency of alpha-mannosidase 2024-04-15 criteria provided, single submitter clinical testing
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000206935 SCV000243987 uncertain significance Deficiency of alpha-mannosidase 2012-06-07 no assertion criteria provided literature only

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