ClinVar Miner

Submissions for variant NM_001038.5(SCNN1A):c.-186C>T

gnomAD frequency: 0.00258  dbSNP: rs72645139
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000325265 SCV000380793 likely benign Pseudohypoaldosteronism, type IB1, autosomal recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001823904 SCV000380794 likely benign Bronchiectasis with or without elevated sweat chloride 1 2016-06-14 criteria provided, single submitter clinical testing

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