ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.4283C>G (p.Ala1428Gly) (rs143166100)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000177733 SCV000229653 likely benign not specified 2015-04-15 criteria provided, single submitter clinical testing
GeneDx RCV001701540 SCV000243103 benign not provided 2021-02-23 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 29741288, 31515523)
Genetic Services Laboratory, University of Chicago RCV000177733 SCV000249025 uncertain significance not specified 2015-01-09 criteria provided, single submitter clinical testing
Invitae RCV000547579 SCV000633778 likely benign Early infantile epileptic encephalopathy with suppression bursts 2020-12-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000719781 SCV000850651 likely benign Seizures 2018-01-31 criteria provided, single submitter clinical testing In silico models in agreement (benign);Subpopulation frequency in support of benign classification
Institute of Human Genetics, University of Leipzig Medical Center RCV000601636 SCV001440756 likely benign Early infantile epileptic encephalopathy 5 2019-01-01 criteria provided, single submitter clinical testing
Bioinformatics Core,Luxembourg Center for Systems Biomedicine RCV000656025 SCV000588301 pathogenic Rolandic epilepsy 2017-01-01 no assertion criteria provided case-control CAADphred>15
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000601636 SCV000734648 likely benign Early infantile epileptic encephalopathy 5 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001701540 SCV001932112 likely benign not provided no assertion criteria provided clinical testing

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