ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.638T>C (p.Val213Ala)

dbSNP: rs1574556643
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000986850 SCV001135992 likely pathogenic Seizures, benign familial infantile, 3 2019-05-28 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV002283516 SCV002573443 pathogenic Malignant migrating partial seizures of infancy 2018-10-31 criteria provided, single submitter clinical testing

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