ClinVar Miner

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

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Total submissions: 6
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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 RCV000279532 SCV000730592 likely benign not specified 2017-03-31 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000611612 SCV000744738 benign Niemann-Pick disease type C1 2017-06-30 criteria provided, single submitter clinical testing
Invitae RCV000611612 SCV001012901 benign Niemann-Pick disease type C1 2019-12-31 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
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000675554 SCV000801245 uncertain significance not provided 2017-09-05 no assertion criteria provided clinical testing

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