ClinVar Miner

Submissions for variant NM_000528.4(MAN2B1):c.609G>T (p.Glu203Asp)

gnomAD frequency: 0.00175  dbSNP: rs139290127
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000971670 SCV001119328 likely benign Deficiency of alpha-mannosidase 2024-01-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV000971670 SCV002086941 benign Deficiency of alpha-mannosidase 2019-11-11 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003972925 SCV004788276 likely benign MAN2B1-related disorder 2022-02-23 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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