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The situation for your classification, supplied by the submitter for this submitted (SCV) history. This column also consists of the influenced position and allele origin of people observed with this particular variant.

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Stars signify the aggregate evaluate standing, or the level of critique supporting the combination germline classification for this VCV history.

There isn't a purposeful evidence in ClinVar for this variation. For those who have produced useful information for this variation, remember to think about distributing that knowledge to ClinVar.

The publishing Business for this submitted (SCV) report. This column also involves the SCV accession and Edition quantity, the day this SCV to start with appeared in ClinVar, as well as day that this SCV was past up-to-date in ClinVar.

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03%). This variant hasn't login thr777 been noted during the literature in men and women affected with GAA-similar problems. ClinVar consists of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web page are a relatively prevalent reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms created to forecast the effect of sequence improvements on RNA splicing suggest that this variant may perhaps develop or fortify a splice web site. In summary, the readily available evidence is at present inadequate to ascertain the function of this variant in disorder. Therefore, it has been categorized for a Variant of Unsure Significance. OK