ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.1532C>T (p.Thr511Met) (rs13381670)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000602955 SCV000733767 benign Niemann-Pick disease type C1 no assertion criteria provided clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000180479 SCV000232932 benign not specified 2014-12-30 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000602955 SCV000745714 likely benign Niemann-Pick disease type C1 2017-06-26 no assertion criteria provided clinical testing

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