ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.3198C>T (p.Thr1066=) (rs145145840)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000610648 SCV000744741 likely benign Niemann-Pick disease type C1 2015-09-21 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000610648 SCV000733754 likely benign Niemann-Pick disease type C1 no assertion criteria provided clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723515 SCV000110334 uncertain significance not provided 2018-08-23 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000610648 SCV000745696 likely benign Niemann-Pick disease type C1 2016-06-13 no assertion criteria provided clinical testing
PreventionGenetics RCV000251909 SCV000303377 likely benign not specified criteria provided, single submitter clinical testing

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