ClinVar Miner

Submissions for variant NM_001144967.3(NEDD4L):c.813+5G>A

gnomAD frequency: 0.00091  dbSNP: rs199959002
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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 RCV000476784 SCV000563277 likely benign not provided 2025-01-25 criteria provided, single submitter clinical testing
GeneDx RCV000476784 SCV001845338 benign not provided 2020-02-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002496848 SCV002805935 likely benign Periventricular nodular heterotopia 7 2021-09-13 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000476784 SCV005208146 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003932769 SCV004752652 likely benign NEDD4L-related disorder 2019-07-12 no assertion criteria provided 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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