ClinVar Miner

Submissions for variant NM_000263.4(NAGLU):c.1322C>T (p.Thr441Met) (rs138695961)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000153532 SCV000203060 uncertain significance not provided 2013-12-23 criteria provided, single submitter clinical testing
Invitae RCV001083792 SCV001025277 likely benign Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease, axonal type 2V 2019-12-31 criteria provided, single submitter clinical testing

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