ClinVar Miner

Submissions for variant NM_000263.4(NAGLU):c.1915G>T (p.Glu639Ter) (rs555145190)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network,NIH RCV000625993 SCV000746599 pathogenic Mucopolysaccharidosis, MPS-III-B 2017-02-09 criteria provided, single submitter clinical testing
Counsyl RCV000625993 SCV000794952 likely pathogenic Mucopolysaccharidosis, MPS-III-B 2017-10-23 criteria provided, single submitter clinical testing

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