ClinVar Miner

Submissions for variant NM_001077350.3(NPRL3):c.469G>T (p.Glu157Ter)

dbSNP: rs1596522356
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV000790461 SCV000929788 likely pathogenic Epilepsy, familial focal, with variable foci 3 2019-02-04 criteria provided, single submitter clinical testing

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