ClinVar Miner

Submissions for variant NM_001077350.3(NPRL3):c.1165C>T (p.Gln389Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MVZ Medizinische Genetik Mainz RCV004797652 SCV005419008 likely pathogenic Epilepsy, familial focal, with variable foci 3 2024-10-31 criteria provided, single submitter clinical testing ACMG Criteria: PVS1,PM2_SUP

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