ClinVar Miner

Submissions for variant NM_001077350.3(NPRL3):c.1593C>T (p.Tyr531=) (rs200669192)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000653307 SCV000775186 likely benign Epilepsy, familial focal, with variable foci 3 2017-12-21 criteria provided, single submitter clinical testing

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