ClinVar Miner

Submissions for variant NM_001077350.3(NPRL3):c.1278C>G (p.Asp426Glu)

dbSNP: rs74712570
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000548406 SCV000656692 benign Epilepsy, familial focal, with variable foci 3 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001692205 SCV001915277 benign not provided 2019-07-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003925728 SCV004741876 benign NPRL3-related condition 2019-03-13 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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