ClinVar Miner

Submissions for variant NM_000263.4(NAGLU):c.1425del (p.Thr476fs)

dbSNP: rs1250949842
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665801 SCV000789978 likely pathogenic Mucopolysaccharidosis, MPS-III-B 2017-04-24 criteria provided, single submitter clinical testing
Invitae RCV001386358 SCV001586549 pathogenic Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease axonal type 2V 2021-08-26 criteria provided, single submitter clinical testing

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