ClinVar Miner

Submissions for variant NM_001038.6(SCNN1A):c.997C>T (p.Arg333Cys)

gnomAD frequency: 0.00010  dbSNP: rs146177203
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000223571 SCV000272419 uncertain significance not specified 2018-02-07 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
Fulgent Genetics, Fulgent Genetics RCV002478772 SCV002789178 uncertain significance Pseudohypoaldosteronism, type IB1, autosomal recessive; Bronchiectasis with or without elevated sweat chloride 2; Liddle syndrome 3 2021-11-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005090072 SCV005823037 benign not provided 2024-04-15 criteria provided, single submitter clinical testing

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