ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.3720-5T>G (rs200543425)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000719762 SCV000850632 likely benign Seizures 2018-01-26 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Athena Diagnostics Inc RCV000713511 SCV000844132 benign not provided 2018-04-11 criteria provided, single submitter clinical testing
Bioinformatics Core,Luxembourg Center for Systems Biomedicine RCV000656024 SCV000588300 pathogenic Rolandic epilepsy 2017-01-01 no assertion criteria provided case-control CAADphred>15
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000153992 SCV000203617 likely benign not specified 2017-08-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000327603 SCV000477502 likely benign Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000464221 SCV000562998 benign Early infantile epileptic encephalopathy 2017-10-31 criteria provided, single submitter clinical testing

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