ClinVar Miner

Submissions for variant NM_000263.4(NAGLU):c.9_14GGTGGC[3] (p.4_5VA[3]) (rs1024697806)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000652885 SCV000774757 likely benign Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease, axonal type 2V 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV001090844 SCV001246597 uncertain significance not provided 2019-07-01 criteria provided, single submitter clinical testing

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