ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.6498C>A (p.Arg2166=) (rs72758823)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000717991 SCV000848852 likely benign Seizures 2017-01-17 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Athena Diagnostics Inc RCV000713521 SCV000844142 benign not provided 2018-08-08 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000420949 SCV000860313 likely benign not specified 2018-03-29 criteria provided, single submitter clinical testing
GeneDx RCV000420949 SCV000521699 likely benign not specified 2016-06-14 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 RCV000147646 SCV000195095 uncertain significance Early infantile epileptic encephalopathy 5 2013-03-04 criteria provided, single submitter clinical testing
Invitae RCV000557639 SCV000633796 benign Early infantile epileptic encephalopathy 2017-08-24 criteria provided, single submitter clinical testing

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