ClinVar Miner

Submissions for variant NM_000199.5(SGSH):c.542A>G (p.His181Arg) (rs776228545)

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Total submissions: 2
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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 RCV000790555 SCV000929896 uncertain significance Mucopolysaccharidosis, MPS-III-A 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)
Nilou-Genome Lab RCV000790555 SCV002045450 uncertain significance Mucopolysaccharidosis, MPS-III-A 2021-11-07 criteria provided, single submitter clinical testing

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