ClinVar Miner

Submissions for variant NM_000263.4(NAGLU):c.1617C>T (p.Ala539=)

gnomAD frequency: 0.00019  dbSNP: rs149875730
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000887020 SCV001030557 likely benign Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease axonal type 2V 2025-02-02 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274192 SCV001458035 likely benign Mucopolysaccharidosis, MPS-III-B 2020-05-05 no assertion criteria provided clinical testing

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