ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.5616G>A (p.Met1872Ile)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004797412 SCV005416973 likely pathogenic Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11; Episodic ataxia, type 9 criteria provided, single submitter clinical testing PM2_Supporting+PS4_Supporting+PM6_Supporting+PP2+PP3+PP4

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