ClinVar Miner

Submissions for variant NM_001038.6(SCNN1A):c.*1012TGTT[1]

dbSNP: rs796798913
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001823901 SCV000380688 benign Bronchiectasis with or without elevated sweat chloride 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000264167 SCV000380689 benign Pseudohypoaldosteronism, type IB1, autosomal recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000358137 SCV000483391 likely benign Familial Periodic Fever 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001690028 SCV001914530 benign not provided 2021-05-22 criteria provided, single submitter clinical testing

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