ClinVar Miner

Submissions for variant NM_000263.4(NAGLU):c.1705C>T (p.Gln569Ter)

dbSNP: rs1555622441
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673658 SCV000798885 likely pathogenic Mucopolysaccharidosis, MPS-III-B 2018-03-27 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268871 SCV001448088 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing

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