ClinVar Miner

Submissions for variant NM_000263.4(NAGLU):c.1949G>A (p.Gly650Glu) (rs527236037)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000132722 SCV000790585 likely pathogenic Mucopolysaccharidosis, MPS-III-B 2017-03-29 criteria provided, single submitter clinical testing
Undiagnosed Diseases Program Translational Research Laboratory,National Institutes of Health RCV000132722 SCV000187651 pathogenic Mucopolysaccharidosis, MPS-III-B no assertion criteria provided not provided Converted during submission to Pathogenic.

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