Submissions for variant NM_001039.4(SCNN1G):c.1432-7G>A

gnomAD frequency: 0.21894  dbSNP: rs13306653

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000151822	SCV000200289	benign	not specified	2013-02-21	criteria provided, single submitter	clinical testing	1432-7G>A in intron 10 of SCNN1G: This variant is not expected to have clinical significance because it has been identified in 25.1% (1104/4394) of African Amer ican chromosomes from a broad population by the NHLBI Exome Sequencing Project ( http://evs.gs.washington.edu/EVS; dbSNP rs13306653).
PreventionGenetics, part of Exact Sciences	RCV000151822	SCV000306094	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000277495	SCV000395738	benign	Autosomal recessive pseudohypoaldosteronism type 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	RCV000316196	SCV000395739	benign	Liddle syndrome 2	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 Inc	RCV000713395	SCV000843996	benign	not provided	2017-07-24	criteria provided, single submitter	clinical testing
GeneDx	RCV000713395	SCV001846922	benign	not provided	2019-11-22	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001807095	SCV002054652	benign	Bronchiectasis with or without elevated sweat chloride 3	2021-07-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000316196	SCV002054653	benign	Liddle syndrome 2	2021-07-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000277495	SCV002054654	benign	Autosomal recessive pseudohypoaldosteronism type 1	2021-07-15	criteria provided, single submitter	clinical testing
Invitae	RCV000713395	SCV002372539	benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000151822	SCV001739971	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000151822	SCV001959212	benign	not specified		no assertion criteria provided	clinical testing