ClinVar Miner

Submissions for variant NM_001077350.3(NPRL3):c.393G>A (p.Arg131=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV004759519 SCV005368112 uncertain significance Epilepsy, familial focal, with variable foci 1 2024-06-17 criteria provided, single submitter clinical testing Criteria applied: PM2_SUP,PP3

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