ClinVar Miner

Submissions for variant NM_001042537.1(SLC9A6):c.25G>T (p.Ala9Ser) (rs201523857)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000715111 SCV000845937 benign History of neurodevelopmental disorder 2016-07-18 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or sub-population frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance,General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Athena Diagnostics Inc RCV000224732 SCV000843959 benign not provided 2018-06-13 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224732 SCV000280617 benign not provided 2016-04-18 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000462225 SCV000734743 likely benign Christianson syndrome no assertion criteria provided clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000147542 SCV000331804 benign not specified 2015-07-23 criteria provided, single submitter clinical testing
GeneDx RCV000147542 SCV000243041 benign not specified 2016-09-06 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.
Genetic Services Laboratory, University of Chicago RCV000147542 SCV000194989 benign not specified 2016-03-21 criteria provided, single submitter clinical testing
Invitae RCV000462225 SCV000560949 benign Christianson syndrome 2017-12-13 criteria provided, single submitter clinical testing
PreventionGenetics RCV000147542 SCV000311455 likely benign not specified criteria provided, single submitter clinical testing

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