Little Known Facts About link thr777.
Little Known Facts About link thr777.
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Stars represent the critique status, or the extent of evaluation supporting the submitted (SCV) report. This value is calculated by NCBI based upon facts in the submitter.
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ClinVar is made up of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web site are a relatively popular reason behind aberrant splicing (PMID: 17576681, 9536098). Algorithms produced to forecast the effect of sequence changes on RNA splicing counsel this variant may possibly generate or bolster a splice web site. In summary, the obtainable proof is at this time insufficient to determine the part of the variant in disease. Thus, it has been labeled being a Variant of Uncertain Importance. OK
Stars stand for the mixture evaluation standing, or the extent of evaluation supporting the aggregate germline classification for this VCV document.
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This day represents the last time this VCV history was current. The update may very well be due to an update to one of several integrated submitted information (SCVs), or as a consequence of an update that ClinVar created on the variant for example including HGVS expressions or perhaps a rs quantity.
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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 and facts to ClinVar.
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This worth is calculated by NCBI based upon data from submitters. Read through our rules for calculating the overview position. The number of submissions which lead to this critique status is proven in parentheses.