ClinVar Miner

Submissions for variant NM_000263.4(NAGLU):c.732A>G (p.Ala244=)

gnomAD frequency: 0.00002  dbSNP: rs200729468
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001496531 SCV001701230 likely benign Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease axonal type 2V 2023-11-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003416364 SCV004138371 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing NAGLU: BP4, BP7

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