ClinVar Miner

Submissions for variant NM_001038.6(SCNN1A):c.1074A>G (p.Glu358=)

gnomAD frequency: 0.00011  dbSNP: rs149430403
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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 RCV000900585 SCV001044911 likely benign not provided 2024-05-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495450 SCV002801159 likely benign Pseudohypoaldosteronism, type IB1, autosomal recessive; Bronchiectasis with or without elevated sweat chloride 2; Liddle syndrome 3 2022-02-23 criteria provided, single submitter clinical testing

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