ClinVar Miner

Submissions for variant NM_000263.4(NAGLU):c.1005T>C (p.Tyr335=)

gnomAD frequency: 0.00004  dbSNP: rs756871462
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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 RCV001487145 SCV001691629 likely benign Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease axonal type 2V 2025-01-05 criteria provided, single submitter clinical testing

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