Submissions for variant NM_000336.3(SCNN1B):c.245C>G (p.Ser82Cys)

gnomAD frequency: 0.00463  dbSNP: rs35731153

Total submissions: 16

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000175586	SCV000227098	benign	not specified	2014-11-26	criteria provided, single submitter	clinical testing
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center	RCV000009392	SCV000267493	uncertain significance	Bronchiectasis with or without elevated sweat chloride 1	2016-03-18	criteria provided, single submitter	reference population
Illumina Laboratory Services, Illumina	RCV000009392	SCV000395835	benign	Bronchiectasis with or without elevated sweat chloride 1	2018-03-06	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.
GeneDx	RCV000175586	SCV000514593	benign	not specified	2016-09-01	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Athena Diagnostics	RCV000713389	SCV000843989	benign	not provided	2017-12-11	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000713389	SCV001022755	benign	not provided	2023-11-13	criteria provided, single submitter	clinical testing
Mendelics	RCV000009392	SCV001139975	benign	Bronchiectasis with or without elevated sweat chloride 1	2023-08-22	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001120418	SCV001278902	benign	Liddle syndrome 1	2018-03-06	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	RCV001120419	SCV001278903	likely benign	Pseudohypoaldosteronism, type IB1, autosomal recessive	2018-03-06	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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Johns Hopkins Genomics, Johns Hopkins University	RCV000009392	SCV002051789	benign	Bronchiectasis with or without elevated sweat chloride 1	2021-10-21	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000713389	SCV004141299	likely benign	not provided	2024-04-01	criteria provided, single submitter	clinical testing	SCNN1B: BS2
Molecular Genetics, Royal Melbourne Hospital	RCV001120418	SCV004812736	likely benign	Liddle syndrome 1	2024-04-07	criteria provided, single submitter	clinical testing
OMIM	RCV000009392	SCV000029610	pathogenic	Bronchiectasis with or without elevated sweat chloride 1	2008-05-28	no assertion criteria provided	literature only
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000713389	SCV001931566	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000713389	SCV001958511	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003914823	SCV004734847	benign	SCNN1B-related disorder	2020-01-15	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).