ClinVar Miner

Submissions for variant NM_000528.4(MAN2B1):c.2665-12T>C

gnomAD frequency: 0.00001  dbSNP: rs781508235
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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 RCV003600996 SCV004521472 likely benign Deficiency of alpha-mannosidase 2023-12-09 criteria provided, single submitter clinical testing

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