ClinVar Miner

Submissions for variant NM_000263.4(NAGLU):c.645C>T (p.Pro215=)

gnomAD frequency: 0.00001  dbSNP: rs2092912974
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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 RCV002218211 SCV002369433 likely benign Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease axonal type 2V 2021-12-31 criteria provided, single submitter clinical testing

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