ClinVar Miner

Submissions for variant NM_006950.3(SYN1):c.1699A>G (p.Thr567Ala) (rs200533370)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000174415 SCV000225711 benign not specified 2015-01-22 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000174415 SCV000249074 uncertain significance not specified 2015-06-05 criteria provided, single submitter clinical testing
GeneDx RCV000174415 SCV000514827 benign not specified 2016-12-15 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 RCV000515022 SCV000610745 benign not provided 2017-08-22 criteria provided, single submitter clinical testing
Invitae RCV000515022 SCV000639943 benign not provided 2019-02-27 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000515022 SCV000844185 benign not provided 2018-04-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715955 SCV000846787 benign History of neurodevelopmental disorder 2017-06-22 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance,In silico models in agreement (benign),Subpopulation frequency in support of benign classification,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 RCV000034817 SCV000883119 likely benign Epilepsy, X-linked, with variable learning disabilities and behavior disorders 2018-11-21 criteria provided, single submitter clinical testing
OMIM RCV000034817 SCV000058379 pathogenic Epilepsy, X-linked, with variable learning disabilities and behavior disorders 2011-06-15 no assertion criteria provided literature only

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