ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.3598A>G (p.Ser1200Gly) (rs35248744)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000279532 SCV000337368 benign not specified 2015-11-12 criteria provided, single submitter clinical testing
GeneDx RCV000675554 SCV000730592 benign not provided 2020-04-02 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23773996, 25764212, 30556376)
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000611612 SCV000744738 benign Niemann-Pick disease type C1 2017-06-30 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000675554 SCV000801245 uncertain significance not provided 2020-02-13 criteria provided, single submitter clinical testing
Invitae RCV000611612 SCV001012901 benign Niemann-Pick disease type C1 2020-12-06 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000611612 SCV000733751 benign Niemann-Pick disease type C1 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000279532 SCV001807817 benign not specified no assertion criteria provided clinical testing

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