ClinVar Miner

Submissions for variant NM_000336.3(SCNN1B):c.1765G>A (p.Gly589Ser) (rs61759926)

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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 RCV000151818 SCV000200285 likely benign not specified 2014-07-01 criteria provided, single submitter clinical testing Gly589Ser in exon 13 of SCNN1B: This variant is not expected to have clinical si gnificance due to a lack of evolutionary conservation of the affected amino acid . Of note, 10 mammals carry a serine (Ser) at this position. Additionally, this variant has been identified in 19/8596 European American chromosomes and 3/4392 African American chromosomes by the NHLBI Exome Sequencing Project (http://evs. gs.washington.edu/EVS/; dbSNP rs61759926).
Illumina Clinical Services Laboratory,Illumina RCV000389821 SCV000395926 likely benign Pseudoprimary hyperaldosteronism 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000274463 SCV000395927 likely benign Bronchiectasis with or without elevated sweat chloride 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000331370 SCV000395928 likely benign Pseudohypoaldosteronism type 1 autosomal recessive 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000893164 SCV001037081 benign not provided 2019-01-25 criteria provided, single submitter clinical testing

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