ClinVar Miner

Submissions for variant NM_000271.4(NPC1):c.1503C>T (p.Asp501=) (rs116046557)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000180480 SCV000232933 benign not specified 2014-05-21 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000625011 SCV000743487 likely benign Niemann-Pick disease type C1 2017-07-28 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000625011 SCV000745715 likely benign Niemann-Pick disease type C1 2017-11-10 no assertion criteria provided clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000407495 SCV000407880 likely benign Niemann-Pick disease, type C 2016-06-14 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000675576 SCV000801267 benign not provided 2017-09-27 no assertion criteria provided clinical testing

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