ClinVar Miner

Submissions for variant NM_001038.6(SCNN1A):c.654C>A (p.Asp218Glu)

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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 RCV005004925 SCV005629555 uncertain significance Pseudohypoaldosteronism, type IB1, autosomal recessive; Bronchiectasis with or without elevated sweat chloride 2; Liddle syndrome 3 2024-04-20 criteria provided, single submitter clinical testing

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