ClinVar Miner

Submissions for variant NM_001039.4(SCNN1G):c.1176+14A>G (rs5740)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000151823 SCV000200290 benign not specified 2013-02-21 criteria provided, single submitter clinical testing 1176+14A>G in intron 7 of SCNN1G: This variant is not expected to have clinical significance because it is not located within the conserved splice consensus seq uence. It has been identified in 34.5% (1518/4394) of African American chromosom es from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs. washington.edu/EVS; dbSNP rs5740).
PreventionGenetics,PreventionGenetics RCV000151823 SCV000306093 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000391223 SCV000395732 benign Liddle syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000309447 SCV000395733 benign Pseudohypoaldosteronism type 1 autosomal recessive 2016-06-14 criteria provided, single submitter clinical testing

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