ClinVar Miner

Submissions for variant NM_000263.4(NAGLU):c.874G>A (p.Gly292Arg) (rs1358994052)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668384 SCV000792975 likely pathogenic Mucopolysaccharidosis, MPS-III-B 2017-07-25 criteria provided, single submitter clinical testing
Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padova RCV000668384 SCV000929907 uncertain significance Mucopolysaccharidosis, MPS-III-B 2019-01-01 criteria provided, single submitter literature only PM2:Very low frequency in ExAC. PP3:multiple lines of computational evidence supporting a deleterious effect (DANN, MutationTaster, GERP, SIFT)

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