ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.3051G>A (p.Pro1017=) (rs140279996)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000147621 SCV000171835 benign not specified 2013-07-25 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.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000147621 SCV000227910 benign not specified 2015-03-13 criteria provided, single submitter clinical testing
Invitae RCV001083005 SCV000562962 benign Early infantile epileptic encephalopathy with suppression bursts 2020-11-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716757 SCV000847600 benign Seizures 2016-08-19 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Athena Diagnostics Inc RCV000476592 SCV001145802 benign not provided 2018-11-21 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000147621 SCV000195070 likely benign not specified no assertion criteria provided clinical testing

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