ClinVar Miner

Submissions for variant NM_000336.3(SCNN1B):c.1367C>T (p.Thr456Ile)

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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 RCV005022277 SCV005646394 uncertain significance Bronchiectasis with or without elevated sweat chloride 1; Liddle syndrome 1; Pseudohypoaldosteronism, type IB2, autosomal recessive 2023-12-27 criteria provided, single submitter clinical testing

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