ClinVar Miner

Submissions for variant NM_000336.3(SCNN1B):c.1313A>G (p.Glu438Gly)

gnomAD frequency: 0.00001  dbSNP: rs749772908
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005014475 SCV005646390 uncertain significance Bronchiectasis with or without elevated sweat chloride 1; Liddle syndrome 1; Pseudohypoaldosteronism, type IB2, autosomal recessive 2024-05-14 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001354153 SCV001548696 uncertain significance not provided no assertion criteria provided clinical testing

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