ClinVar Miner

Submissions for variant NM_000336.3(SCNN1B):c.448C>G (p.Leu150Val)

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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 RCV005022240 SCV005644565 uncertain significance Bronchiectasis with or without elevated sweat chloride 1; Liddle syndrome 1; Pseudohypoaldosteronism, type IB2, autosomal recessive 2024-04-25 criteria provided, single submitter clinical testing

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