ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.471C>T (p.Tyr157=) (rs145101354)

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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 RCV000731741 SCV000859590 uncertain significance not provided 2018-02-06 criteria provided, single submitter clinical testing
Invitae RCV001088848 SCV001104489 likely benign Niemann-Pick disease type C1 2019-12-31 criteria provided, single submitter clinical testing

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