ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.3797G>A (p.Arg1266Gln) (rs1805084)

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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 RCV000078483 SCV000110339 benign not specified 2015-07-24 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000078483 SCV000303385 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000020233 SCV000407844 benign Niemann-Pick disease type C1 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000020233 SCV000744737 benign Niemann-Pick disease type C1 2017-05-31 criteria provided, single submitter clinical testing
GeneReviews RCV000020233 SCV000040578 benign Niemann-Pick disease type C1 2008-07-22 no assertion criteria provided curation Converted during submission to Benign.
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000020233 SCV000745692 benign Niemann-Pick disease type C1 2016-04-22 no assertion criteria provided clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000675553 SCV000801244 benign not provided 2015-12-16 no assertion criteria provided clinical testing

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