ClinVar Miner

Submissions for variant NM_000336.3(SCNN1B):c.279T>C (p.Pro93=) (rs238547)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000151814 SCV000615138 benign not specified 2017-07-24 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000151814 SCV000227099 benign not specified 2014-10-21 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000307100 SCV000395839 benign Bronchiectasis with or without elevated sweat chloride 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000361247 SCV000395840 benign Pseudoprimary hyperaldosteronism 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000266524 SCV000395841 benign Pseudohypoaldosteronism type 1 autosomal recessive 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000151814 SCV000200281 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Pro93Pro in exon 2 of SCNN1B: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 45.2% (3883/8600) of European American chromosomes from a broad population by the NHLBI Exome Sequen cing Project (http://evs.gs.washington.edu/EVS; dbSNP rs238547).
PreventionGenetics RCV000151814 SCV000303680 benign not specified criteria provided, single submitter clinical testing

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