ClinVar Miner

Submissions for variant NM_001077350.3(NPRL3):c.1516A>T (p.Asn506Tyr)

gnomAD frequency: 0.00086  dbSNP: rs202015937
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000653305 SCV000775184 likely benign Epilepsy, familial focal, with variable foci 3 2024-01-27 criteria provided, single submitter clinical testing
GeneDx RCV001766420 SCV001988696 benign not provided 2021-07-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001766420 SCV004131645 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing NPRL3: BS1

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