ClinVar Miner

Submissions for variant NM_006432.4(NPC2):c.442-4A>C (rs114950106)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000178919 SCV000231099 benign not specified 2014-05-21 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000320741 SCV000388519 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.
Invitae RCV001081149 SCV000762279 benign Niemann-Pick disease, type C2 2019-12-31 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000675983 SCV000801715 likely benign not provided 2017-09-21 no assertion criteria provided clinical testing
Natera, Inc. RCV001081149 SCV001464114 benign Niemann-Pick disease, type C2 2020-09-16 no assertion criteria provided clinical testing

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