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Stars characterize the assessment position, or the level of overview supporting the submitted (SCV) record. This price is calculated by NCBI based on knowledge from the submitter.
The amount of variants in ClinVar for this gene, like more compact variants inside the gene and larger CNVs that overlap or totally contain the gene.
ClinVar incorporates an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web page are a comparatively prevalent reason behind aberrant splicing (PMID: 17576681, 9536098). Algorithms created to forecast the outcome of sequence improvements on RNA splicing propose that this variant may possibly produce or strengthen a splice internet site. In summary, the readily available proof is currently inadequate to ascertain the position of the variant in illness. Therefore, it's been labeled to be a Variant of Uncertain Importance. OK
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This column contains additional information supporting the classification, like citations, the touch upon classification, and detailed evidence furnished as observations from the variant with the submitter.
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The influence from the variant on RNA or protein purpose, depending on experimental proof from submitters.
There isn't any citations for germline classification of the variant in ClinVar. If you recognize of citations for this variation, remember to contemplate submitting that information to ClinVar.
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