ClinVar Miner

Submissions for variant NM_000263.4(NAGLU):c.1444C>T (p.Arg482Trp) (rs104894596)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000001637 SCV000746455 pathogenic Mucopolysaccharidosis, MPS-III-B 2017-12-03 criteria provided, single submitter clinical testing
Counsyl RCV000001637 SCV000788455 likely pathogenic Mucopolysaccharidosis, MPS-III-B 2018-02-15 criteria provided, single submitter clinical testing
OMIM RCV000001637 SCV000021793 pathogenic Mucopolysaccharidosis, MPS-III-B 2002-01-01 no assertion criteria provided literature only

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