ClinVar Miner

Submissions for variant NM_001039.4(SCNN1G):c.435C>T (p.Ser145=) (rs62639702)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000390088 SCV000395706 likely benign Liddle syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000294984 SCV000395707 likely benign Pseudohypoaldosteronism type 1 autosomal recessive 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000602942 SCV000711351 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Ser145Ser 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 0.9% (38/4394) of A frican American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS; dbSNP rs62639702).
Invitae RCV000971805 SCV001119473 benign not provided 2019-02-21 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000971805 SCV001145740 benign not provided 2018-09-17 criteria provided, single submitter clinical testing

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