ClinVar Miner

Submissions for variant NM_020631.5(PLEKHG5):c.1932T>C (p.Pro644=) (rs150807400)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000421448 SCV000226667 uncertain significance not provided 2015-02-12 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000421448 SCV000510647 uncertain significance not provided 2016-09-08 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
GeneDx RCV000421448 SCV000521922 likely benign not provided 2020-11-30 criteria provided, single submitter clinical testing
Invitae RCV001078661 SCV000646013 likely benign Distal spinal muscular atrophy, autosomal recessive 4; Charcot-Marie-Tooth disease, recessive intermediate c 2020-11-15 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001287535 SCV001474234 likely benign none provided 2019-12-18 criteria provided, single submitter clinical testing

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