ClinVar Miner

Submissions for variant NM_000336.3(SCNN1B):c.777-5T>C (rs61759915)

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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 RCV000220924 SCV000615139 likely benign not specified 2017-06-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000316419 SCV000395862 likely benign Pseudoprimary hyperaldosteronism 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000371088 SCV000395863 likely benign Pseudohypoaldosteronism type 1 autosomal recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000275967 SCV000395864 likely benign Bronchiectasis with or without elevated sweat chloride 1 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000220924 SCV000269801 benign not specified 2016-02-03 criteria provided, single submitter clinical testing c.777-5T>C in intron 4 of SCNN1B: This variant is not expected to have clinical significance because it has been identified in 1% (181/16512) of South Asian chr omosomes, including 4 homozygotes by the Exome Aggregation Consortium (ExAC, htt p://exac.broadinstitute.org; dbSNP rs61759915).

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