ClinVar Miner

Submissions for variant NM_005908.4(MANBA):c.51C>A (p.Thr17=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003601409 SCV004400510 likely benign Beta-D-mannosidosis 2023-11-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003909072 SCV004726261 likely benign MANBA-related disorder 2023-10-20 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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