ClinVar Miner

Submissions for variant NM_002076.4(GNS):c.814C>T (p.Gln272Ter) (rs1365770233)

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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 RCV000790560 SCV000929912 pathogenic Mucopolysaccharidosis, MPS-III-D 2019-01-01 criteria provided, single submitter literature only PVS1: nonsense. PS3: Absent in vivo enzymatic activity in homozygote. PM2: Absent from GnomAD

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