ClinVar Miner

Submissions for variant NM_003165.4(STXBP1):c.325+8C>T (rs117372398)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000080079 SCV000111974 benign not specified 2013-07-30 criteria provided, single submitter clinical testing
GeneDx RCV000080079 SCV000171903 benign not specified 2012-03-28 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 RCV000080079 SCV000195159 likely benign not specified 2014-05-27 criteria provided, single submitter clinical testing
Invitae RCV001079732 SCV000287895 benign Early infantile epileptic encephalopathy 2019-12-31 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000080079 SCV000309467 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000368384 SCV000477251 likely benign Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000713556 SCV000844178 benign not provided 2017-09-30 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000613435 SCV000734639 likely benign Early infantile epileptic encephalopathy 4 no assertion criteria provided clinical testing

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