ClinVar Miner

Submissions for variant NM_001039.4(SCNN1G):c.1432-7G>A (rs13306653)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000713395 SCV000843996 benign not provided 2017-07-24 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000277495 SCV000395738 benign Pseudohypoaldosteronism type 1 autosomal recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000316196 SCV000395739 benign Pseudoprimary hyperaldosteronism 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000151822 SCV000200289 benign not specified 2013-02-21 criteria provided, single submitter clinical testing 1432-7G>A in intron 10 of SCNN1G: This variant is not expected to have clinical significance because it has been identified in 25.1% (1104/4394) of African Amer ican chromosomes from a broad population by the NHLBI Exome Sequencing Project ( http://evs.gs.washington.edu/EVS; dbSNP rs13306653).
PreventionGenetics RCV000151822 SCV000306094 benign not specified criteria provided, single submitter clinical testing

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