ClinVar Miner

Submissions for variant NM_004586.3(RPS6KA3):c.2168G>A (p.Arg723His) (rs144984628)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000595652 SCV000248737 likely benign not specified 2017-08-02 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000595652 SCV000706504 benign not specified 2017-02-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV000721043 SCV000851928 benign History of neurodevelopmental disorder 2017-07-05 criteria provided, single submitter clinical testing Insufficient or conflicting evidence;General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance;General population or sub-population frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000193624 SCV000883118 likely benign Mental retardation, X-linked 19 2018-11-21 criteria provided, single submitter clinical testing
Mendelics RCV000990499 SCV001141503 uncertain significance Coffin-Lowry syndrome 2019-05-28 criteria provided, single submitter clinical testing
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001252609 SCV001428368 uncertain significance Intellectual disability 2019-01-01 no assertion criteria provided clinical testing

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