ClinVar Miner

Submissions for variant NM_001144967.3(NEDD4L):c.2093A>G (p.Asn698Ser)

gnomAD frequency: 0.00003  dbSNP: rs377143286
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000432003 SCV000535975 uncertain significance not provided 2019-09-06 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV000432003 SCV001540435 benign not provided 2024-01-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002481345 SCV002780083 uncertain significance Periventricular nodular heterotopia 7 2021-10-08 criteria provided, single submitter clinical testing

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