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
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 RCV000713511 SCV000562998 benign not provided 2019-02-28 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000713511 SCV000844132 benign not provided 2018-04-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV000719762 SCV000850632 likely benign Seizures 2019-02-06 criteria provided, single submitter clinical testing Subpopulation frequency in support of benign classification
Bioinformatics Core,Luxembourg Center for Systems Biomedicine RCV000656024 SCV000588300 pathogenic Rolandic epilepsy 2017-01-01 no assertion criteria provided case-control CAADphred>15

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