ClinVar Miner

Submissions for variant NM_001039.4(SCNN1G):c.1575G>A (p.Glu525=) (rs72647541)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725881 SCV000340222 uncertain significance not provided 2016-03-24 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000284257 SCV000395744 likely benign Pseudohypoaldosteronism type 1 autosomal recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000341572 SCV000395745 likely benign Pseudoprimary hyperaldosteronism 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000278515 SCV000711353 likely benign not specified 2016-07-28 criteria provided, single submitter clinical testing p.Glu525Glu in exon 13 of SCNN1G: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 0.2% (10/6482) o f Finnish chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.bro adinstitute.org; dbSNP rs72647541).

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