ClinVar Miner

Submissions for variant NM_001038.6(SCNN1A):c.685-1G>A

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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 RCV005004924 SCV005629551 likely pathogenic Pseudohypoaldosteronism, type IB1, autosomal recessive; Bronchiectasis with or without elevated sweat chloride 2; Liddle syndrome 3 2024-06-12 criteria provided, single submitter clinical testing

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