thr777 Things To Know Before You Buy
thr777 Things To Know Before You Buy
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The mixture germline classification for this variant, usually for a monogenic or Mendelian ailment as from the ACMG/AMP tips, or for reaction to some drug. This value is calculated by NCBI based upon knowledge from submitters. Go through our rules for calculating the mixture classification.
The mixture germline classification for this variant, ordinarily for a monogenic or Mendelian condition as from the ACMG/AMP rules, or for reaction to the drug. This value is calculated by NCBI according to info from submitters. Go through our principles for calculating the mixture classification.
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Stars symbolize the evaluation position, or the level of evaluate supporting the submitted (SCV) report. This value is calculated by NCBI dependant on knowledge in the submitter.
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Stars depict the aggregate evaluate standing, or the extent of overview supporting the aggregate germline classification for this VCV report.
ClinVar includes an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice site are a relatively prevalent explanation for aberrant splicing (PMID: 17576681, 9536098). Algorithms created to predict the outcome of sequence improvements on RNA splicing recommend this variant could make or reinforce a splice web-site. In summary, the obtainable evidence is at this time insufficient to ascertain the job of this variant in disease. As a result, it has been categorized being a Variant of Unsure Significance. Okay
These citations are identified by LitVar utilizing the rs number, so they may contain citations for more than one variant at this area. Remember to overview the LitVar effects diligently for your variant of interest. History last up-to-date May well 19, 2024
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Stars symbolize the aggregate evaluation status, or the level of review supporting the combination germline classification for this VCV report.
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