ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.3450C>T (p.Asn1150=) (rs34715591)

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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 RCV000605744 SCV000744740 benign Niemann-Pick disease type C1 2017-06-30 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000605744 SCV000733753 benign Niemann-Pick disease type C1 no assertion criteria provided clinical testing
GeneDx RCV000600947 SCV000717989 likely benign not specified 2017-03-29 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.
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000605744 SCV000745695 likely benign Niemann-Pick disease type C1 2017-05-22 no assertion criteria provided clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000675556 SCV000801247 likely benign not provided 2017-08-31 no assertion criteria provided clinical testing

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