ClinVar Miner

Submissions for variant NM_000336.3(SCNN1B):c.657C>T (p.Tyr219=)

gnomAD frequency: 0.00034  dbSNP: rs746821073
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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 RCV000888087 SCV001031698 likely benign not provided 2024-04-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005021273 SCV005644578 likely benign Bronchiectasis with or without elevated sweat chloride 1; Liddle syndrome 1; Pseudohypoaldosteronism, type IB2, autosomal recessive 2024-01-15 criteria provided, single submitter clinical testing

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