ClinVar Miner

Submissions for variant NM_173660.5(DOK7):c.1317C>T (p.Ser439=) (rs16844467)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000116889 SCV000316519 benign not specified criteria provided, single submitter clinical testing
Invitae RCV000541346 SCV000640945 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
GeneDx RCV000116889 SCV000714934 benign not specified 2017-11-25 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.
Genetic Services Laboratory, University of Chicago RCV000116889 SCV000150975 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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