ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.7161-9C>T (rs187613754)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725332 SCV000336104 uncertain significance not provided 2015-11-02 criteria provided, single submitter clinical testing
GeneDx RCV000128277 SCV000171869 benign not specified 2013-08-01 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 RCV000147658 SCV000195107 uncertain significance Early infantile epileptic encephalopathy 5 2014-05-06 criteria provided, single submitter clinical testing
Invitae RCV000476878 SCV000562982 benign Early infantile epileptic encephalopathy 2017-10-20 criteria provided, single submitter clinical testing

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