ClinVar Miner

Submissions for variant NM_001038.6(SCNN1A):c.1960G>A (p.Gly654Arg)

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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 RCV005011477 SCV005636515 uncertain significance Pseudohypoaldosteronism, type IB1, autosomal recessive; Bronchiectasis with or without elevated sweat chloride 2; Liddle syndrome 3 2024-05-04 criteria provided, single submitter clinical testing

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