ClinVar Miner

Submissions for variant NM_001077350.3(NPRL3):c.922C>T (p.Gln308Ter)

dbSNP: rs2141920098
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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 RCV001785359 SCV002026373 pathogenic Epilepsy, familial focal, with variable foci 3 2021-10-08 criteria provided, single submitter clinical testing This variant was identified as de novo (maternity and paternity confirmed)._x000D_ Criteria applied: PVS1, PS2_MOD, PM2_SUP

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