ClinVar Miner

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

gnomAD frequency: 0.66128  dbSNP: rs238547
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Total submissions: 15
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham 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).
Eurofins Ntd Llc (ga) RCV000151814 SCV000227099 benign not specified 2014-10-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000151814 SCV000303680 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000307100 SCV000395839 benign Bronchiectasis with or without elevated sweat chloride 1 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina RCV000361247 SCV000395840 benign Liddle syndrome 1 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina RCV000266524 SCV000395841 benign Pseudohypoaldosteronism, type IB1, autosomal recessive 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Athena Diagnostics RCV000151814 SCV000615138 benign not specified 2017-07-24 criteria provided, single submitter clinical testing
GeneDx RCV001675638 SCV001894913 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000307100 SCV002054638 benign Bronchiectasis with or without elevated sweat chloride 1 2021-07-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000361247 SCV002054639 benign Liddle syndrome 1 2021-07-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000266524 SCV002054641 benign Pseudohypoaldosteronism, type IB1, autosomal recessive 2021-07-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001675638 SCV002404262 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001675638 SCV005293166 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000151814 SCV001743338 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000151814 SCV001953949 benign not specified no assertion criteria provided clinical testing

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