ClinVar Miner

Submissions for variant NM_000336.3(SCNN1B):c.1401C>T (p.Ser467=) (rs74012901)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000151816 SCV000200283 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Ser467Ser in exon 10 of SCNN1B: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 1.2% (51/4394) of African American chromosomes from a broad population by the NHLBI Exome Sequenci ng Project (http://evs.gs.washington.edu/EVS; dbSNP rs74012901).
Illumina Clinical Services Laboratory,Illumina RCV000312543 SCV000395896 likely benign Pseudohypoaldosteronism type 1 autosomal recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000348729 SCV000395897 likely benign Bronchiectasis with or without elevated sweat chloride 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000398815 SCV000395898 likely benign Pseudoprimary hyperaldosteronism 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000713385 SCV000843985 benign not provided 2017-12-30 criteria provided, single submitter clinical testing
Invitae RCV000713385 SCV001057592 benign not provided 2018-09-05 criteria provided, single submitter clinical testing

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