ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.2058C>T (p.Ala686=) (rs1171554207)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000620773 SCV000739613 likely benign Cardiovascular phenotype 2016-07-21 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000768315 SCV000898975 uncertain significance Shprintzen-Goldberg syndrome 2018-02-08 criteria provided, single submitter clinical testing SKI NM_003036.3 exon 7 p.Ala686= (c.2058C>T): This variant has not been reported in the literature but is present in 1/14928 European alleles in the Genome Aggregation Database ( Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Of note, this variant is a silent variant and does not change the amino acid, reducing the probability that this variant is disease causing. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Invitae RCV000871406 SCV001013062 likely benign not provided 2018-12-19 criteria provided, single submitter clinical testing

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