ClinVar Miner

Submissions for variant NM_001039.4(SCNN1G):c.549C>T (p.Gly183=) (rs5737)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000151821 SCV000200288 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Gly183Gly in exon 3 of SCNN1G: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 6.9% (596/8600) of European American chromosomes from a broad population by the NHLBI Exome Sequenc ing Project (http://evs.gs.washington.edu/EVS; dbSNP rs5737).
PreventionGenetics,PreventionGenetics RCV000151821 SCV000306098 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000387398 SCV000395720 benign Pseudohypoaldosteronism type 1 autosomal recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000293041 SCV000395721 benign Liddle syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000713391 SCV000843992 benign not provided 2017-12-15 criteria provided, single submitter clinical testing

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