ClinVar Miner

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

gnomAD frequency: 0.00019  dbSNP: rs149172890
Minimum review status: Collection method:
Minimum conflict level:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002518574 SCV003276732 likely benign not provided 2025-09-10 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
PreventionGenetics, part of Exact Sciences RCV000248527 SCV000303674 likely benign not specified criteria provided, single submitter clinical testing

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