ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.4832del (p.Leu1611fs)

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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 RCV004797146 SCV005418186 uncertain significance Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11; Episodic ataxia, type 9 criteria provided, single submitter clinical testing PVS1_Strong+PM2_Supporting

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