ClinVar Miner

Submissions for variant NM_000263.4(NAGLU):c.764+12C>G

gnomAD frequency: 0.00001  dbSNP: rs1002650158
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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 RCV002090607 SCV002375655 likely benign Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease axonal type 2V 2024-01-25 criteria provided, single submitter clinical testing

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