ClinVar Miner

Submissions for variant NM_000263.4(NAGLU):c.1632C>T (p.Leu544=)

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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 RCV003793604 SCV004582963 likely benign Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease axonal type 2V 2023-08-10 criteria provided, single submitter clinical testing

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