ClinVar Miner

Submissions for variant NM_001038.6(SCNN1A):c.1439+1G>A

dbSNP: rs1369791519
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000988776 SCV001138636 pathogenic Autosomal recessive pseudohypoaldosteronism type 1 2019-05-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002497281 SCV002814064 likely pathogenic Autosomal recessive pseudohypoaldosteronism type 1; Bronchiectasis with or without elevated sweat chloride 2; Liddle syndrome 3 2022-01-05 criteria provided, single submitter clinical testing

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