ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.1947+10G>C (rs71534236)

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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 RCV000078468 SCV000110324 benign not specified 2013-02-22 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000608902 SCV000407877 likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Invitae RCV000608902 SCV001013460 likely benign Niemann-Pick disease type C1 2019-12-31 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000608902 SCV000733765 likely benign Niemann-Pick disease type C1 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000608902 SCV000745712 likely benign Niemann-Pick disease type C1 2016-06-20 no assertion criteria provided clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000675571 SCV000801262 likely benign not provided 2017-05-10 no assertion criteria provided clinical testing

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