ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.1947+14_1947+15insC (rs201170241)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000318061 SCV000407870 likely benign Niemann-Pick disease, type C 2016-06-14 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000591446 SCV000700542 uncertain significance not provided 2017-02-06 criteria provided, single submitter clinical testing

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