ClinVar Miner

Submissions for variant NM_022835.3(PLEKHG2):c.1708G>A (p.Gly570Arg) (rs370673772)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000454146 SCV000537940 likely pathogenic Abnormality of brain morphology criteria provided, single submitter research
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514634 SCV000609979 uncertain significance not provided 2017-06-20 criteria provided, single submitter clinical testing

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