ClinVar Miner

Submissions for variant NM_001038.6(SCNN1A):c.340G>A (p.Val114Ile)

gnomAD frequency: 0.00018  dbSNP: rs61759861
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001762041 SCV001989348 uncertain significance not provided 2019-04-02 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 9654209, 19462466, 31589614)
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV000009850 SCV004807687 uncertain significance Bronchiectasis with or without elevated sweat chloride 2 2024-03-29 criteria provided, single submitter clinical testing
OMIM RCV000009850 SCV000030071 pathogenic Bronchiectasis with or without elevated sweat chloride 2 2009-07-01 no assertion criteria provided literature only
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) RCV000009850 SCV003926480 uncertain significance Bronchiectasis with or without elevated sweat chloride 2 no assertion criteria provided clinical testing

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