ClinVar Miner

Submissions for variant NM_000336.3(SCNN1B):c.1299C>T (p.Ser433=)

gnomAD frequency: 0.00019  dbSNP: rs149172890
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000248527 SCV000303674 likely benign not specified criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002479958 SCV002795134 likely benign Bronchiectasis with or without elevated sweat chloride 1; Liddle syndrome 1; Pseudohypoaldosteronism, type IB1, autosomal recessive 2022-01-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002518574 SCV003276732 likely benign not provided 2023-06-15 criteria provided, single submitter clinical testing

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