ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.1384-2A>G

dbSNP: rs1574571769
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000986852 SCV001135995 likely pathogenic Seizures, benign familial infantile, 3 2019-05-28 criteria provided, single submitter clinical testing
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV002468609 SCV002764870 likely pathogenic Episodic ataxia, type 9 2021-12-14 criteria provided, single submitter clinical testing

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