ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.1142G>A (p.Trp381Ter) (rs794727897)

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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 RCV000724228 SCV000232499 pathogenic not provided 2014-10-20 criteria provided, single submitter clinical testing
Counsyl RCV000180120 SCV000485482 likely pathogenic Niemann-Pick disease type C1 2015-12-16 criteria provided, single submitter clinical testing

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