ClinVar Miner

Submissions for variant NM_001039.4(SCNN1G):c.152T>C (p.Leu51Pro)

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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 RCV005022191 SCV005642352 uncertain significance Bronchiectasis with or without elevated sweat chloride 3; Liddle syndrome 2; Pseudohypoaldosteronism, type IB3, autosomal recessive 2024-02-28 criteria provided, single submitter clinical testing

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