ClinVar Miner

Submissions for variant NM_000263.4(NAGLU):c.1176C>T (p.Thr392=)

gnomAD frequency: 0.00003  dbSNP: rs766094935
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001414486 SCV001616625 likely benign Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease axonal type 2V 2025-01-05 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005057380 SCV005725845 likely benign not specified 2024-11-25 criteria provided, single submitter clinical testing

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