ClinVar Miner

Submissions for variant NM_001077350.3(NPRL3):c.924+7C>G

gnomAD frequency: 0.00004  dbSNP: rs778499898
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000653308 SCV000775187 benign Epilepsy, familial focal, with variable foci 3 2024-01-08 criteria provided, single submitter clinical testing
GeneDx RCV001692253 SCV001907458 benign not provided 2020-05-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003907916 SCV004724853 likely benign NPRL3-related condition 2021-10-28 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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