ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.1330G>A (p.Val444Ile) (rs77358650)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000128230 SCV000171822 benign not specified 2014-06-02 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 RCV000128230 SCV000195054 benign not specified 2016-02-08 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000128230 SCV000331607 benign not specified 2015-11-19 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000274173 SCV000477481 likely benign Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2016-06-14 criteria provided, single submitter clinical testing
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000454129 SCV000537980 likely pathogenic Abnormality of brain morphology criteria provided, single submitter research
Invitae RCV000458268 SCV000562991 benign not provided 2019-02-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716370 SCV000847210 benign Seizures 2017-02-10 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

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