ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.1735G>A (p.Ala579Thr) (rs370558210)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000768314 SCV000898974 uncertain significance Shprintzen-Goldberg syndrome 2018-08-10 criteria provided, single submitter clinical testing SKI NM_003036.3 exon5 p.Ala579Thr (c.1735G>A): This variant has not been reported in the literature, and is not present in large control databases. Evolutionary conservation and computational predictive tools for this variant are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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