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The number of variants in ClinVar for this gene, such as scaled-down variants inside the gene and larger CNVs that overlap or absolutely comprise the gene.
ClinVar consists of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice site are a comparatively typical explanation for aberrant splicing (PMID: 17576681, 9536098). Algorithms designed to predict the effect of sequence improvements on RNA splicing recommend this variant could build or bolster a splice site. In summary, the offered proof is at the moment inadequate to determine the function of the variant in sickness. As a result, it's been classified being a Variant of Unsure Importance. OK
Stars characterize the combination evaluation status, or the level of critique supporting the combination germline classification for this VCV record.
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The impact in the variant on RNA or protein operate, determined by experimental proof from submitters.
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There is absolutely no purposeful evidence in ClinVar for this variation. In case you have created purposeful information for this variation, remember to take into consideration submitting that info to ClinVar.