ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.1947+7_1947+8insCGGGG (rs1555634618)

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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 RCV000727853 SCV000855319 uncertain significance not provided 2017-10-04 criteria provided, single submitter clinical testing
Invitae RCV000649026 SCV000770851 likely benign Niemann-Pick disease type C1 2017-12-22 criteria provided, single submitter clinical testing

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