ClinVar Miner

Submissions for variant NM_000263.4(NAGLU):c.383+7C>T

gnomAD frequency: 0.00004  dbSNP: rs768602711
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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 RCV000884338 SCV001027710 likely benign Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease axonal type 2V 2024-09-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274188 SCV001458027 uncertain significance Mucopolysaccharidosis, MPS-III-B 2020-03-17 no assertion criteria provided clinical testing

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