ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.3546T>C (p.Asp1182=) (rs945831)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000147628 SCV000195077 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000147628 SCV000306756 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000270198 SCV000477501 likely benign Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000467123 SCV000562981 benign Early infantile epileptic encephalopathy 2017-08-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716406 SCV000847246 benign Seizures 2016-02-25 criteria provided, single submitter clinical testing

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