ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.3717C>T (p.His1239=) (rs34624018)

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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 RCV000305924 SCV000333819 uncertain significance not provided 2018-01-30 criteria provided, single submitter clinical testing
Invitae RCV000544982 SCV000650849 likely benign Niemann-Pick disease type C1 2017-07-18 criteria provided, single submitter clinical testing

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