ClinVar Miner

Submissions for variant NM_000336.3(SCNN1B):c.1501G>A (p.Glu501Lys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005022282 SCV005646402 uncertain significance Bronchiectasis with or without elevated sweat chloride 1; Liddle syndrome 1; Pseudohypoaldosteronism, type IB2, autosomal recessive 2024-03-24 criteria provided, single submitter clinical testing

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