ClinVar Miner

Submissions for variant NM_000528.4(MAN2B1):c.2126_2127del (p.His709fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003461823 SCV004191847 likely pathogenic Deficiency of alpha-mannosidase 2023-10-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV003461823 SCV005655494 likely pathogenic Deficiency of alpha-mannosidase 2024-03-29 criteria provided, single submitter clinical testing

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