ClinVar Miner

Submissions for variant NM_001039.4(SCNN1G):c.547G>A (p.Gly183Ser) (rs5736)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000224250 SCV000843991 benign not provided 2017-11-06 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224250 SCV000280831 benign not provided 2015-12-22 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000272918 SCV000395718 likely benign Pseudohypoaldosteronism type 1 autosomal recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000328044 SCV000395719 likely benign Pseudoprimary hyperaldosteronism 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000609005 SCV000711352 benign not specified 2017-11-02 criteria provided, single submitter clinical testing p.Gly183Ser in exon 3 of SCNN1G: This variant is not expected to have clinical s ignificance because it has been identified in 3.6% (868/24032) of African chromo somes including 17 homozygotes by the Genome Aggregation Database (gnomAD, http: //gnomad.broadinstitute.org; dbSNP rs5736) and there is lack of conservation acr oss species, including mammals. Of note, 44 species have a serine (Ser) residue at this position despite high nearby amino acid conservation. ACMG/AMP Criteria applied: BA1, BS4, BP4.
OMIM RCV000009376 SCV000029594 pathogenic Bronchiectasis with or without elevated sweat chloride 3 2008-05-28 no assertion criteria provided literature only

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