ClinVar Miner

Submissions for variant NM_001161352.2(KCNMA1):c.3195C>T (p.Thr1065=) (rs45527834)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000117329 SCV000151510 likely benign not specified 2013-08-28 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000117329 SCV000202879 benign not specified 2014-01-27 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000401590 SCV000365114 likely benign Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Invitae RCV000401590 SCV000638713 benign Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy 2019-12-31 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000401590 SCV000743905 likely benign Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy 2015-04-19 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000401590 SCV000745338 likely benign Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy 2015-09-21 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000859643 SCV001147994 likely benign not provided 2019-06-01 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000401590 SCV000732965 benign Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy no assertion criteria provided clinical testing

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