ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.6660C>T (p.Asn2220=) (rs112955915)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000147651 SCV000171864 benign not specified 2013-02-07 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 RCV000147651 SCV000195100 likely benign not specified 2012-09-07 criteria provided, single submitter clinical testing
Invitae RCV001080420 SCV000562988 benign Early infantile epileptic encephalopathy with suppression bursts 2020-11-18 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000713522 SCV000844144 benign not provided 2018-08-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716555 SCV000847396 benign Seizures 2016-03-18 criteria provided, single submitter clinical testing Subpopulation frequency in support of benign classification;Synonymous alterations with insufficient evidence to classify as benign

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