ClinVar Miner

Submissions for variant NM_003165.4(STXBP1):c.1320C>T (p.Ile440=) (rs370249358)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000379677 SCV000477257 uncertain significance Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000516890 SCV000615517 benign not specified 2017-01-17 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726837 SCV000703524 uncertain significance not provided 2016-12-15 criteria provided, single submitter clinical testing
GeneDx RCV000516890 SCV000730119 likely benign not specified 2017-12-20 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.
Invitae RCV001080534 SCV000758026 likely benign Early infantile epileptic encephalopathy 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000719597 SCV000850466 likely benign History of neurodevelopmental disorder 2017-02-01 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign

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