ClinVar Miner

Submissions for variant NM_000336.3(SCNN1B):c.1115A>T (p.Asn372Ile)

dbSNP: rs1555489480
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521539 SCV000619452 uncertain significance not provided 2020-01-06 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); 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
Fulgent Genetics, Fulgent Genetics RCV005018893 SCV005646376 uncertain significance Bronchiectasis with or without elevated sweat chloride 1; Liddle syndrome 1; Pseudohypoaldosteronism, type IB2, autosomal recessive 2024-02-22 criteria provided, single submitter clinical testing

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