ClinVar Miner

Submissions for variant NM_000263.4(NAGLU):c.230T>G (p.Val77Gly)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padova RCV000790558 SCV000929904 likely pathogenic Mucopolysaccharidosis, MPS-III-B 2019-01-01 criteria provided, single submitter literature only PS3: Low in vitro enzymatic activity. PM2: Absent from GnomAD

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