This benefit is calculated by NCBI according to details from submitters. Read our regulations for calculating the overview position. The quantity of submissions which add to this overview position is proven in parentheses.
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ClinVar has an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice internet site are a relatively frequent reason behind aberrant splicing (PMID: 17576681, 9536098). Algorithms made to predict the outcome of sequence improvements on RNA splicing recommend that this variant may well generate or reinforce a splice site. In summary, the readily available evidence is now insufficient to ascertain the part of the variant in condition. Hence, it has been categorised as being a Variant of Unsure Importance. (considerably less)
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Stars signify the combination overview status, or the level of evaluate supporting the combination germline classification for this VCV document.
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The influence with the variant on RNA or protein purpose, based upon experimental evidence from submitters.
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