ClinVar Miner

Submissions for variant NM_001161352.2(KCNMA1):c.1305C>T (p.Asp435=)

gnomAD frequency: 0.00001  dbSNP: rs201999021
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000404665 SCV000334336 uncertain significance not provided 2015-08-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002059114 SCV002495210 likely benign Generalized epilepsy-paroxysmal dyskinesia syndrome 2024-06-04 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000404665 SCV005435996 likely benign not provided 2024-09-01 criteria provided, single submitter clinical testing KCNMA1: BP4, BP7

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