ClinVar Miner

Submissions for variant NM_004278.3(PIGL):c.424C>A (p.Leu142Met) (rs115958467)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000224110 SCV000575091 likely benign not provided 2016-11-30 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224110 SCV000281577 likely benign not provided 2016-05-06 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000396564 SCV000335066 likely benign not specified 2015-09-22 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000147259 SCV000194630 uncertain significance Zunich neuroectodermal syndrome 2013-02-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000294974 SCV000400865 uncertain significance Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome 2016-06-14 criteria provided, single submitter clinical testing

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