ClinVar Miner

Submissions for variant NM_145239.3(PRRT2):c.107_110del (p.Gln36fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005022320 SCV005646545 likely pathogenic Seizures, benign familial infantile, 2; Episodic kinesigenic dyskinesia 1; Infantile convulsions and choreoathetosis 2024-01-17 criteria provided, single submitter clinical testing

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