ClinVar Miner

Submissions for variant NM_000263.4(NAGLU):c.507_516del (p.Ser169fs) (rs483352897)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000626637 SCV000747339 pathogenic Hypertrichosis; Abnormality of metabolism/homeostasis; Coarse facial features; Abnormal facial shape; Thick eyebrow; Hepatosplenomegaly; Mucopolysacchariduria; Intellectual disability, severe 2017-01-01 criteria provided, single submitter clinical testing
OMIM RCV000001630 SCV000021786 pathogenic Mucopolysaccharidosis, MPS-III-B 1996-06-11 no assertion criteria provided literature only

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