ClinVar Miner

Submissions for variant NM_001038.6(SCNN1A):c.1987A>G (p.Thr663Ala) (rs2228576)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000151811 SCV000200278 benign not specified 2013-06-11 criteria provided, single submitter clinical testing Benign based on allele frequency. A single GWAS study comparing nenoates with s mall intestinal atresia to controls. The variant is reported to correlate with blood pressure (OR 0.7, 95% CI 0.4-1.3). This is insufficient to warrant inclus ion on a Mendelian report
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000151811 SCV000225812 benign not specified 2015-03-05 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000151811 SCV000306090 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000295920 SCV000380715 benign Pseudohypoaldosteronism type 1 autosomal recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000325126 SCV000380716 benign Cystic Fibrosis-Like Syndrome 2016-06-14 criteria provided, single submitter clinical testing

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