ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.3486C>T (p.Leu1162=) (rs2227864)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000147626 SCV000195075 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000147626 SCV000306754 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000390746 SCV000477498 benign Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000713509 SCV000844130 benign not provided 2018-05-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715203 SCV000846031 benign Seizures 2015-12-31 criteria provided, single submitter clinical testing

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