ClinVar Miner

Submissions for variant NM_001077350.3(NPRL3):c.629+9G>C

gnomAD frequency: 0.00290  dbSNP: rs142080016
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000538666 SCV000656700 benign Epilepsy, familial focal, with variable foci 3 2024-01-30 criteria provided, single submitter clinical testing
GeneDx RCV001683591 SCV001897436 benign not provided 2020-05-10 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001683591 SCV001926940 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001726244 SCV001966236 benign not specified no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004553249 SCV004756521 benign NPRL3-related disorder 2019-06-26 no assertion criteria provided 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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