ClinVar Miner

Submissions for variant NM_001161352.2(KCNMA1):c.90C>T (p.His30=) (rs75040504)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000117332 SCV000151513 likely benign not specified 2013-12-11 criteria provided, single submitter clinical testing
Invitae RCV001085544 SCV000638728 likely benign Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy 2020-12-04 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000712120 SCV000842541 benign not provided 2017-11-30 criteria provided, single submitter clinical testing

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