ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.1947+9_1947+10insGGAG (rs772150994)

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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 RCV000592571 SCV000704776 uncertain significance not provided 2016-12-20 criteria provided, single submitter clinical testing
Invitae RCV000649027 SCV000770852 likely benign Niemann-Pick disease type C1 2017-10-05 criteria provided, single submitter clinical testing

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