ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.3229C>T (p.Arg1077Ter) (rs750095738)

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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 RCV000726304 SCV000343588 pathogenic not provided 2016-07-05 criteria provided, single submitter clinical testing
Counsyl RCV000286951 SCV000796607 pathogenic Niemann-Pick disease type C1 2017-12-28 no assertion criteria provided clinical testing

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