ClinVar Miner

Submissions for variant NM_001039.4(SCNN1G):c.1455T>C (p.Thr485=)

gnomAD frequency: 0.00001  dbSNP: rs1270059843
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000911884 SCV001056964 likely benign not provided 2018-03-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002479053 SCV002798936 likely benign Pseudohypoaldosteronism, type IB1, autosomal recessive; Bronchiectasis with or without elevated sweat chloride 3; Liddle syndrome 2 2022-04-22 criteria provided, single submitter clinical testing

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