ClinVar Miner

Submissions for variant NM_003036.3(SKI):c.1196C>T (p.Ala399Val) (rs141862996)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000618152 SCV000739597 uncertain significance Cardiovascular phenotype 2016-09-23 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000227742 SCV000678208 uncertain significance Shprintzen-Goldberg syndrome 2017-08-01 criteria provided, single submitter clinical testing SKI NM_003036.3 exon3 p.Ala399Val (c.1196C>T): This variant has not been reported in the literature but is present in 0.4% (117/24020) of African individuals, including 1 homozygote in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs141862996). This variant is present in ClinVar (Variation ID:213692). Evolutionary conservation and computational predictive tools suggest that this variant may impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514089 SCV000609855 likely benign not provided 2017-05-04 criteria provided, single submitter clinical testing
GeneDx RCV000195594 SCV000250678 likely benign not specified 2018-03-01 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000227742 SCV000287832 likely benign Shprintzen-Goldberg syndrome 2017-06-29 criteria provided, single submitter clinical testing
PreventionGenetics RCV000195594 SCV000309349 likely benign not specified criteria provided, single submitter clinical testing

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