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

gnomAD frequency: 0.00578  dbSNP: rs45527834

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000117329	SCV000151510	benign	not specified	2021-06-01	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000117329	SCV000202879	benign	not specified	2014-01-27	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000401590	SCV000365114	likely benign	Generalized epilepsy-paroxysmal dyskinesia syndrome	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000401590	SCV000638713	benign	Generalized epilepsy-paroxysmal dyskinesia syndrome	2024-01-30	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000401590	SCV000743905	likely benign	Generalized epilepsy-paroxysmal dyskinesia syndrome	2015-04-19	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000401590	SCV000745338	likely benign	Generalized epilepsy-paroxysmal dyskinesia syndrome	2015-09-21	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000859643	SCV001147994	likely benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	KCNMA1: BP4, BP7, BS2; KCNMA1-AS1: BS2
GeneDx	RCV000859643	SCV001835248	benign	not provided	2018-08-23	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000117329	SCV001879816	benign	not specified	2020-11-24	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000859643	SCV005228793	likely benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000401590	SCV000732965	benign	Generalized epilepsy-paroxysmal dyskinesia syndrome		no assertion criteria provided	clinical testing