ClinVar Miner

Submissions for variant NM_001161352.2(KCNMA1):c.1131+11dup

dbSNP: rs545073914
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000385160 SCV000365131 uncertain significance Generalized epilepsy-paroxysmal dyskinesia syndrome 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000385160 SCV002406167 benign Generalized epilepsy-paroxysmal dyskinesia syndrome 2024-01-22 criteria provided, single submitter clinical testing

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