ClinVar Miner

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

gnomAD frequency: 0.00032  dbSNP: rs75040504
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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 RCV000117332 SCV000151513 likely benign not specified 2013-12-11 criteria provided, single submitter clinical testing
Invitae RCV001085544 SCV000638728 likely benign Generalized epilepsy-paroxysmal dyskinesia syndrome 2024-01-07 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000712120 SCV000842541 benign not provided 2017-11-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000712120 SCV001961232 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing KCNMA1: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003925140 SCV004746950 likely benign KCNMA1-related condition 2019-03-18 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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