ClinVar Miner

Submissions for variant NM_001038.6(SCNN1A):c.1554A>G (p.Arg518=)

gnomAD frequency: 0.00010  dbSNP: rs570566104
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Total submissions: 2
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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 RCV000825232 SCV000966515 likely benign not specified 2018-07-05 criteria provided, single submitter clinical testing The p.Arg577Arg variant in SCNN1A is classified as likely benign because it does not alter an amino acid residue, it is not located within the splice consensus sequence, and splice prediction algorithms do not predict a newly created splice site. It has been identified in 6/24000 African chromosomes by the Genome Aggre gation Database (gnomAD, http://gnomad.broadinstitute.org). ACMG/AMP Criteria ap plied: BP4, BP7.
Fulgent Genetics, Fulgent Genetics RCV002501153 SCV002805337 likely benign Autosomal recessive pseudohypoaldosteronism type 1; Bronchiectasis with or without elevated sweat chloride 2; Liddle syndrome 3 2022-05-06 criteria provided, single submitter clinical testing

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