NM

您所在的位置:网站首页 4758g NM

NM

2024-07-03 20:24| 来源: 网络整理| 查看: 265

Description

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.

#SampleMethodObservationOriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences1germlineunknownnot providednot providednot providednot providednot providednot providednot provided


【本文地址】


今日新闻


推荐新闻


CopyRight 2018-2019 办公设备维修网 版权所有 豫ICP备15022753号-3