ClinVar Miner

Submissions for variant NM_001038.6(SCNN1A):c.385G>A (p.Ala129Thr)

gnomAD frequency: 0.00006  dbSNP: rs141756749
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000714666 SCV000845386 uncertain significance Autosomal recessive pseudohypoaldosteronism type 1 2018-08-07 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000714667 SCV000845387 uncertain significance Bronchiectasis with or without elevated sweat chloride 2 2018-08-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002507252 SCV002816436 uncertain significance Autosomal recessive pseudohypoaldosteronism type 1; Bronchiectasis with or without elevated sweat chloride 2; Liddle syndrome 3 2022-04-07 criteria provided, single submitter clinical testing

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