ClinVar Miner

Submissions for variant NM_005908.4(MANBA):c.12C>T (p.His4=)

gnomAD frequency: 0.00006  dbSNP: rs757557908
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002162839 SCV002414993 likely benign Beta-D-mannosidosis 2024-02-23 criteria provided, single submitter clinical testing

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