ClinVar Miner

Submissions for variant NM_000336.3(SCNN1B):c.1467-14G>A (rs34618783)

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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 RCV000320856 SCV000395905 benign Pseudohypoaldosteronism type 1 autosomal recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000375553 SCV000395906 benign Bronchiectasis with or without elevated sweat chloride 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000262269 SCV000395907 benign Pseudoprimary hyperaldosteronism 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000151817 SCV000200284 benign not specified 2013-02-21 criteria provided, single submitter clinical testing 1467-14G>A in intron 11 of SCNN1B: This variant is not expected to have clinical significance because it has been identified in 2.5% (214/8600) of European Amer ican chromosomes from a broad population by the NHLBI Exome Sequencing Project ( http://evs.gs.washington.edu/EVS; dbSNP rs34618783).
PreventionGenetics RCV000151817 SCV000303676 benign not specified criteria provided, single submitter clinical testing

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