ClinVar Miner

Submissions for variant NM_000528.4(MAN2B1):c.1110-15C>T

gnomAD frequency: 0.00019  dbSNP: rs202085731
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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 RCV002127276 SCV002403253 benign Deficiency of alpha-mannosidase 2024-10-10 criteria provided, single submitter clinical testing

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