ClinVar Miner

Submissions for variant NM_002206.3(ITGA7):c.46T>G (p.Cys16Gly) (rs142060614)

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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 RCV000243046 SCV000308762 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000243046 SCV000528279 likely benign not specified 2016-06-15 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.
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514342 SCV000610133 benign not provided 2017-05-03 criteria provided, single submitter clinical testing
Invitae RCV000514342 SCV000648331 benign not provided 2019-02-01 criteria provided, single submitter clinical testing

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