ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.6111C>T (p.Gly2037=) (rs139799727)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000716909 SCV000847754 benign Seizures 2016-09-06 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Athena Diagnostics Inc RCV000713520 SCV000844141 benign not provided 2017-12-20 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000128267 SCV000863296 likely benign not specified 2018-09-18 criteria provided, single submitter clinical testing
GeneDx RCV000128267 SCV000171859 benign not specified 2014-02-07 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.
Genetic Services Laboratory, University of Chicago RCV000128267 SCV000249026 benign not specified 2016-08-02 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000376967 SCV000477526 likely benign Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000556010 SCV000633787 benign Early infantile epileptic encephalopathy 2018-01-01 criteria provided, single submitter clinical testing

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